-
1
-
-
84863443830
-
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis
-
(2231.e1-2231.e6)
-
Y. Abramzon, J.O. Johnson, S.W. Scholz, J.P. Taylor, M. Brunetti, A. Calvo, J. Mandrioli, M. Benatar, G. Mora, G. Restagno, A. Chiò, and B.J. Traynor Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis Neurobiol. Aging 33 9 2012 (2231.e1-2231.e6)
-
(2012)
Neurobiol. Aging
, vol.33
, Issue.9
-
-
Abramzon, Y.1
Johnson, J.O.2
Scholz, S.W.3
Taylor, J.P.4
Brunetti, M.5
Calvo, A.6
Mandrioli, J.7
Benatar, M.8
Mora, G.9
Restagno, G.10
Chiò, A.11
Traynor, B.J.12
-
2
-
-
84920528572
-
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy
-
([Epub ahead of print])
-
S. Ajroud-Driss, F. Fecto, K. Ajroud, I. Lalani, S.E. Calvo, V.K. Mootha, H.X. Deng, N. Siddique, A.J. Tahmoush, T.D. Heiman-Patterson, and T. Siddique Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy Neurogenetics 2014 ([Epub ahead of print])
-
(2014)
Neurogenetics
-
-
Ajroud-Driss, S.1
Fecto, F.2
Ajroud, K.3
Lalani, I.4
Calvo, S.E.5
Mootha, V.K.6
Deng, H.X.7
Siddique, N.8
Tahmoush, A.J.9
Heiman-Patterson, T.D.10
Siddique, T.11
-
3
-
-
84873430272
-
Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients
-
(1516.e1-8)
-
A. Alavi, S. Nafissi, M. Rohani, B. Zamani, B. Sedighi, H. Shamshiri, JB. Fan, M. Ronaghi, and E. Elahi Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients Neurobiol. Aging 34 5 2013 (1516.e1-8)
-
(2013)
Neurobiol. Aging
, vol.34
, Issue.5
-
-
Alavi, A.1
Nafissi, S.2
Rohani, M.3
Zamani, B.4
Sedighi, B.5
Shamshiri, H.6
Fan, J.B.7
Ronaghi, M.8
Elahi, E.9
-
4
-
-
84885178229
-
Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients
-
(267)
-
A. Alavi, S. Nafissi, M. Rohani, G. Shahidi, B. Zamani, H. Shamshiri, I. Safari, and E. Elahi Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients Neurobiol. Aging 35 1 2014 e1 e7 (267)
-
(2014)
Neurobiol. Aging
, vol.35
, Issue.1
, pp. e1-e7
-
-
Alavi, A.1
Nafissi, S.2
Rohani, M.3
Shahidi, G.4
Zamani, B.5
Shamshiri, H.6
Safari, I.7
Elahi, E.8
-
5
-
-
84863393160
-
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
-
(S1-2)
-
C.A. Albers, D.S. Paul, H. Schulze, K. Freson, J.C. Stephens, P.A. Smethurst, J.D. Jolley, A. Cvejic, M. Kostadima, P. Bertone, M.H. Breuning, N. Debili, P. Deloukas, R. Favier, J. Fiedler, C.M. Hobbs, N. Huang, M.E. Hurles, G. Kiddle, I. Krapels, P. Nurden, C.A. Ruivenkamp, J.G. Sambrook, K. Smith, D.L. Stemple, G. Strauss, C. Thys, C. van Geet, R. Newbury-Ecob, WH. Ouwehand, and C. Ghevaert Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome Nat. Genet. 44 4 2012 435 439 (S1-2)
-
(2012)
Nat. Genet.
, vol.44
, Issue.4
, pp. 435-439
-
-
Albers, C.A.1
Paul, D.S.2
Schulze, H.3
Freson, K.4
Stephens, J.C.5
Smethurst, P.A.6
Jolley, J.D.7
Cvejic, A.8
Kostadima, M.9
Bertone, P.10
Breuning, M.H.11
Debili, N.12
Deloukas, P.13
Favier, R.14
Fiedler, J.15
Hobbs, C.M.16
Huang, N.17
Hurles, M.E.18
Kiddle, G.19
Krapels, I.20
Nurden, P.21
Ruivenkamp, C.A.22
Sambrook, J.G.23
Smith, K.24
Stemple, D.L.25
Strauss, G.26
Thys, C.27
Van Geet, C.28
Newbury-Ecob, R.29
Ouwehand, W.H.30
Ghevaert, C.31
more..
-
6
-
-
0032926368
-
Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis
-
A. Al-Chalabi, P.M. Andersen, P. Nilsson, B. Chioza, J.L. Andersson, C. Russ, C.E. Shaw, J.F. Powell, and P.N. Leigh Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis Hum. Mol. Genet. 8 2 1999 157 164
-
(1999)
Hum. Mol. Genet.
, vol.8
, Issue.2
, pp. 157-164
-
-
Al-Chalabi, A.1
Andersen, P.M.2
Nilsson, P.3
Chioza, B.4
Andersson, J.L.5
Russ, C.6
Shaw, C.E.7
Powell, J.F.8
Leigh, P.N.9
-
7
-
-
0036828798
-
"true" sporadic ALS associated with a novel SOD-1 mutation
-
M.D. Alexander, B.J. Traynor, N. Miller, B. Corr, E. Frost, S. McQuaid, F.M. Brett, A. Green, and O. Hardiman "True" sporadic ALS associated with a novel SOD-1 mutation Ann. Neurol. 52 5 2002 680 683
-
(2002)
Ann. Neurol.
, vol.52
, Issue.5
, pp. 680-683
-
-
Alexander, M.D.1
Traynor, B.J.2
Miller, N.3
Corr, B.4
Frost, E.5
McQuaid, S.6
Brett, F.M.7
Green, A.8
Hardiman, O.9
-
8
-
-
84155163741
-
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis
-
A. Al-Saif, F. Al-Mohanna, and S. Bohlega A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis Ann. Neurol. 70 6 2011 913 919
-
(2011)
Ann. Neurol.
, vol.70
, Issue.6
, pp. 913-919
-
-
Al-Saif, A.1
Al-Mohanna, F.2
Bohlega, S.3
-
9
-
-
84868091740
-
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis
-
A. Al-Saif, S. Bohlega, and F. Al-Mohanna Loss of ERLIN2 function leads to juvenile primary lateral sclerosis Ann. Neurol. 72 4 2012 510 516
-
(2012)
Ann. Neurol.
, vol.72
, Issue.4
, pp. 510-516
-
-
Al-Saif, A.1
Bohlega, S.2
Al-Mohanna, F.3
-
10
-
-
84868133881
-
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1
-
(357.e7-19)
-
ALSGEN Consortium, K.B. Ahmeti, S. Ajroud-Driss, A. Al-Chalabi, P.M. Andersen, J. Armstrong, A. Birve, H.M. Blauw, R.H. Brown, L. Bruijn, W. Chen, A. Chiò, M.C. Comeau, S. Cronin, F.P. Diekstra, A. Soraya Gkazi, J.D. Glass, J.D. Grab, E.J. Groen, J.L. Haines, O. Hardiman, S. Heller, J. Huang, W.Y Hung, ITALSGEN consortium, J.M. Jaworski, A. Jones, H. Khan, J.E. Landers, C.D. Langefeld, P.N. Leigh, M.C. Marion, R.L. McLaughlin, V. Meininger, J. Melki, J.W. Miller, G. Mora, M.A. Pericak-Vance, E. Rampersaud, W. Robberecht, L.P. Russell, F. Salachas, C.G. Saris, A. Shatunov, C.E. Shaw, N. Siddique, T. Siddique, B.N. Smith, R. Sufit, S. Topp, B.J. Traynor, C. Vance, P. van Damme, L.H. van den Berg, M.A. van Es, P.W. van Vught, J.H. Veldink, Y. Yang, and J.G. Zheng Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1 Neurobiol. Aging 34 2013 (357.e7-19)
-
(2013)
Neurobiol. Aging
, vol.34
-
-
Consortium, A.1
Ahmeti, K.B.2
Ajroud-Driss, S.3
Al-Chalabi, A.4
Andersen, P.M.5
Armstrong, J.6
Birve, A.7
Blauw, H.M.8
Brown, R.H.9
Bruijn, L.10
Chen, W.11
Chiò, A.12
Comeau, M.C.13
Cronin, S.14
Diekstra, F.P.15
Soraya Gkazi, A.16
Glass, J.D.17
Grab, J.D.18
Groen, E.J.19
Haines, J.L.20
Hardiman, O.21
Heller, S.22
Huang, J.23
Hung, W.Y.24
Consortium, I.25
Jaworski, J.M.26
Jones, A.27
Khan, H.28
Landers, J.E.29
Langefeld, C.D.30
Leigh, P.N.31
Marion, M.C.32
McLaughlin, R.L.33
Meininger, V.34
Melki, J.35
Miller, J.W.36
Mora, G.37
Pericak-Vance, M.A.38
Rampersaud, E.39
Robberecht, W.40
Russell, L.P.41
Salachas, F.42
Saris, C.G.43
Shatunov, A.44
Shaw, C.E.45
Siddique, N.46
Siddique, T.47
Smith, B.N.48
Sufit, R.49
Topp, S.50
Traynor, B.J.51
Vance, C.52
Van Damme, P.53
Van Den Berg, L.H.54
Van Es, M.A.55
Van Vught, P.W.56
Veldink, J.H.57
Yang, Y.58
Zheng, J.G.59
more..
-
11
-
-
77957375690
-
Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene
-
A. Alzualde, F. Moreno, P. Martínez-Lage, I. Ferrer, A. Gorostidi, D. Otaegui, L. Blázquez, B. Atares, S. Cardoso, M. Martínez de Pancorbo, R. Juste, A.B. Rodríguez-Martínez, B. Indakoetxea, and A. López de Munain Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene Am. J. Med. Genet. B: Neuropsychiatr. Genet 153B 7 2010 1283 1291
-
(2010)
Am. J. Med. Genet. B: Neuropsychiatr. Genet
, vol.153 B
, Issue.7
, pp. 1283-1291
-
-
Alzualde, A.1
Moreno, F.2
Martínez-Lage, P.3
Ferrer, I.4
Gorostidi, A.5
Otaegui, D.6
Blázquez, L.7
Atares, B.8
Cardoso, S.9
Martínez De Pancorbo, M.10
Juste, R.11
Rodríguez-Martínez, A.B.12
Indakoetxea, B.13
López De Munain, A.14
-
12
-
-
31544466502
-
Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene
-
P.M. Andersen Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene Curr. Neurol. Neurosci. Rep. 6 1 2006 37 46
-
(2006)
Curr. Neurol. Neurosci. Rep.
, vol.6
, Issue.1
, pp. 37-46
-
-
Andersen, P.M.1
-
13
-
-
9544236295
-
Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients
-
P.M. Andersen, L. Forsgren, M. Binzer, P. Nilsson, V. Ala-Hurula, M.L. Keränen, L. Bergmark, A. Saarinen, T. Haltia, I. Tarvainen, E. Kinnunen, B. Udd, and S.L. Marklund Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients Brain 119 Pt 4 1996 1153 1172
-
(1996)
Brain
, vol.119
, pp. 1153-1172
-
-
Andersen, P.M.1
Forsgren, L.2
Binzer, M.3
Nilsson, P.4
Ala-Hurula, V.5
Keränen, M.L.6
Bergmark, L.7
Saarinen, A.8
Haltia, T.9
Tarvainen, I.10
Kinnunen, E.11
Udd, B.12
Marklund, S.L.13
-
14
-
-
0003119862
-
Research on an as yet undescribed disease of the muscular system (progressive muscular atrophy)
-
F.A. Aran Research on an as yet undescribed disease of the muscular system (progressive muscular atrophy) Arch. Gen. Med 24 1848 15 35
-
(1848)
Arch. Gen. Med
, vol.24
, pp. 15-35
-
-
Aran, F.A.1
-
15
-
-
81855178276
-
Somatic retrotransposition alters the genetic landscape of the human brain
-
J.K. Baillie, M.W. Barnett, K.R. Upton, D.J. Gerhardt, T.A. Richmond, F. De Sapio, P.M. Brennan, P. Rizzu, S. Smith, M. Fell, R.T. Talbot, S. Gustincich, T.C. Freeman, J.S. Mattick, D.A. Hume, P. Heutink, P. Carninci, J.A. Jeddeloh, and G.J. Faulkner Somatic retrotransposition alters the genetic landscape of the human brain Nature 479 7374 2011 534 537
-
(2011)
Nature
, vol.479
, Issue.7374
, pp. 534-537
-
-
Baillie, J.K.1
Barnett, M.W.2
Upton, K.R.3
Gerhardt, D.J.4
Richmond, T.A.5
De Sapio, F.6
Brennan, P.M.7
Rizzu, P.8
Smith, S.9
Fell, M.10
Talbot, R.T.11
Gustincich, S.12
Freeman, T.C.13
Mattick, J.S.14
Hume, D.A.15
Heutink, P.16
Carninci, P.17
Jeddeloh, J.A.18
Faulkner, G.J.19
-
16
-
-
84905041572
-
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
-
S. Bannwarth, S. Ait-El-Mkadem, A. Chaussenot, E.C. Genin, S. Lacas-Gervais, K. Fragaki, L. Berg-Alonso, Y. Kageyama, V. Serre, D.G. Moore, A. Verschueren, C. Rouzier, I. Le Ber, G. Augé, C. Cochaud, F. Lespinasse, K. N'Guyen, A. de Septenville, A. Brice, P. Yu-Wai-Man, H. Sesaki, J. Pouget, and V. Paquis-Flucklinger A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement Brain 137 Pt 8 2014 2329 2345
-
(2014)
Brain
, vol.137
, pp. 2329-2345
-
-
Bannwarth, S.1
Ait-El-Mkadem, S.2
Chaussenot, A.3
Genin, E.C.4
Lacas-Gervais, S.5
Fragaki, K.6
Berg-Alonso, L.7
Kageyama, Y.8
Serre, V.9
Moore, D.G.10
Verschueren, A.11
Rouzier, C.12
Le Ber, I.13
Augé, G.14
Cochaud, C.15
Lespinasse, F.16
N'Guyen, K.17
De Septenville, A.18
Brice, A.19
Yu-Wai-Man, P.20
Sesaki, H.21
Pouget, J.22
Paquis-Flucklinger, V.23
more..
-
17
-
-
3042856300
-
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease
-
J.A. Beck, M. Poulter, T.A. Campbell, J.B. Uphill, G. Adamson, J.F. Geddes, T. Revesz, M.B. Davis, N.W. Wood, J. Collinge, and S.J. Tabrizi Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease Hum. Mol. Genet. 13 12 2004 1219 1224
-
(2004)
Hum. Mol. Genet.
, vol.13
, Issue.12
, pp. 1219-1224
-
-
Beck, J.A.1
Poulter, M.2
Campbell, T.A.3
Uphill, J.B.4
Adamson, G.5
Geddes, J.F.6
Revesz, T.7
Davis, M.B.8
Wood, N.W.9
Collinge, J.10
Tabrizi, S.J.11
-
18
-
-
84879088376
-
Motor neuron involvement in multisystem proteinopathy: Implications for ALS
-
M. Benatar, J. Wuu, C. Fernandez, C.C. Weihl, H. Katzen, J. Steele, B. Oskarsson, and J.P. Taylor Motor neuron involvement in multisystem proteinopathy: implications for ALS Neurology 80 20 2013 1874 1880
-
(2013)
Neurology
, vol.80
, Issue.20
, pp. 1874-1880
-
-
Benatar, M.1
Wuu, J.2
Fernandez, C.3
Weihl, C.C.4
Katzen, H.5
Steele, J.6
Oskarsson, B.7
Taylor, J.P.8
-
19
-
-
84879422064
-
A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS
-
H. Blasco, N. Bernard-Marissal, P. Vourc'h, Y.O. Guettard, C. Sunyach, O. Augereau, J. Khederchah, K. Mouzat, C. Antar, P.H. Gordon, C. Veyrat-Durebex, G. Besson, P.M. Andersen, F. Salachas, V. Meininger, W. Camu, B. Pettmann, CR. Andres, P. Corcia, and French ALS Study Group A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS Hum. Mutat. 34 7 2013 953 960
-
(2013)
Hum. Mutat.
, vol.34
, Issue.7
, pp. 953-960
-
-
Blasco, H.1
Bernard-Marissal, N.2
Vourc'H, P.3
Guettard, Y.O.4
Sunyach, C.5
Augereau, O.6
Khederchah, J.7
Mouzat, K.8
Antar, C.9
Gordon, P.H.10
Veyrat-Durebex, C.11
Besson, G.12
Andersen, P.M.13
Salachas, F.14
Meininger, V.15
Camu, W.16
Pettmann, B.17
Andres, C.R.18
Corcia, P.19
Als Study Group, F.20
more..
-
20
-
-
40849141981
-
Copy-number variation in sporadic amyotrophic lateral sclerosis: A genome-wide screen
-
H.M. Blauw, J.H. Veldink, M.A. van Es, P.W. van Vught, C.G. Saris, B. van der Zwaag, L. Franke, J.P. Burbach, J.H. Wokke, R.A. Ophoff, and L.H. van den Berg Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen Lancet Neurol. 7 4 2008 319 326
-
(2008)
Lancet Neurol.
, vol.7
, Issue.4
, pp. 319-326
-
-
Blauw, H.M.1
Veldink, J.H.2
Van Es, M.A.3
Van Vught, P.W.4
Saris, C.G.5
Van Der Zwaag, B.6
Franke, L.7
Burbach, J.P.8
Wokke, J.H.9
Ophoff, R.A.10
Van Den Berg, L.H.11
-
21
-
-
77957739219
-
A large genome scan for rare CNVs in amyotrophic lateral sclerosis
-
H.M. Blauw, A. Al-Chalabi, P.M. Andersen, P.W. van Vught, F.P. Diekstra, M.A. van Es, C.G. Saris, E.J. Groen, W. van Rheenen, M. Koppers, R. Van't Slot, E. Strengman, K. Estrada, F. Rivadeneira, A. Hofman, AG. Uitterlinden, LA. Kiemeney, SH. Vermeulen, A. Birve, S. Waibel, T. Meyer, S. Cronin, R.L. McLaughlin, O. Hardiman, P.C. Sapp, M.D. Tobin, L.V. Wain, B. Tomik, A. Slowik, R. Lemmens, D. Rujescu, C. Schulte, T. Gasser, R.H Brown Jr., J.E. Landers, W. Robberecht, A.C. Ludolph, R.A. Ophoff, J.H. Veldink, and L.H. van den Berg A large genome scan for rare CNVs in amyotrophic lateral sclerosis Hum. Mol. Genet. 19 20 2010 4091 4099
-
(2010)
Hum. Mol. Genet.
, vol.19
, Issue.20
, pp. 4091-4099
-
-
Blauw, H.M.1
Al-Chalabi, A.2
Andersen, P.M.3
Van Vught, P.W.4
Diekstra, F.P.5
Van Es, M.A.6
Saris, C.G.7
Groen, E.J.8
Van Rheenen, W.9
Koppers, M.10
Van'T Slot, R.11
Strengman, E.12
Estrada, K.13
Rivadeneira, F.14
Hofman, A.15
Uitterlinden, A.G.16
Kiemeney, L.A.17
Vermeulen, S.H.18
Birve, A.19
Waibel, S.20
Meyer, T.21
Cronin, S.22
McLaughlin, R.L.23
Hardiman, O.24
Sapp, P.C.25
Tobin, M.D.26
Wain, L.V.27
Tomik, B.28
Slowik, A.29
Lemmens, R.30
Rujescu, D.31
Schulte, C.32
Gasser, T.33
Brown, Jr.R.H.34
Landers, J.E.35
Robberecht, W.36
Ludolph, A.C.37
Ophoff, R.A.38
Veldink, J.H.39
Van Den Berg, L.H.40
more..
-
22
-
-
84859931823
-
SMN1 gene duplications are associated with sporadic ALS
-
H.M. Blauw, C.P. Barnes, P.W. van Vught, W. van Rheenen, M. Verheul, E. Cuppen, J.H. Veldink, and L.H. van den Berg SMN1 gene duplications are associated with sporadic ALS Neurology 78 11 2012 776 780
-
(2012)
Neurology
, vol.78
, Issue.11
, pp. 776-780
-
-
Blauw, H.M.1
Barnes, C.P.2
Van Vught, P.W.3
Van Rheenen, W.4
Verheul, M.5
Cuppen, E.6
Veldink, J.H.7
Van Den Berg, L.H.8
-
23
-
-
70350721803
-
Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease
-
B. Borroni, C. Bonvicini, A. Alberici, E. Buratti, C. Agosti, S. Archetti, A. Papetti, C. Stuani, M. Di Luca, M. Gennarelli, and A. Padovani Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease Hum. Mutat. 30 11 2009 E974 E983
-
(2009)
Hum. Mutat.
, vol.30
, Issue.11
, pp. E974-E983
-
-
Borroni, B.1
Bonvicini, C.2
Alberici, A.3
Buratti, E.4
Agosti, C.5
Archetti, S.6
Papetti, A.7
Stuani, C.8
Di Luca, M.9
Gennarelli, M.10
Padovani, A.11
-
24
-
-
84863067477
-
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience
-
J.A. Brown, J. Min, J.F. Staropoli, E. Collin, S. Bi, X. Feng, R. Barone, Y. Cao, L. O'Malley, W. Xin, T.E. Mullen, and K.B. Sims SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience Amyotroph. Lateral Scler. 13 2 2012 217 222
-
(2012)
Amyotroph. Lateral Scler.
, vol.13
, Issue.2
, pp. 217-222
-
-
Brown, J.A.1
Min, J.2
Staropoli, J.F.3
Collin, E.4
Bi, S.5
Feng, X.6
Barone, R.7
Cao, Y.8
O'Malley, L.9
Xin, W.10
Mullen, T.E.11
Sims, K.B.12
-
25
-
-
84876703071
-
The genomically mosaic brain: Aneuploidy and more in neural diversity and disease
-
D.M. Bushman, and J. Chun The genomically mosaic brain: aneuploidy and more in neural diversity and disease Semin. Cell Dev. Biol. 24 4 2013 357 369
-
(2013)
Semin. Cell Dev. Biol.
, vol.24
, Issue.4
, pp. 357-369
-
-
Bushman, D.M.1
Chun, J.2
-
26
-
-
84897398469
-
TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis
-
J. Cady, E.D. Koval, B.A. Benitez, C. Zaidman, J. Jockel-Balsarotti, P. Allred, R.H. Baloh, J. Ravits, E. Simpson, S.H. Appel, A. Pestronk, A.M. Goate, T.M. Miller, C. Cruchaga, and M.B. Harms TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis JAMA Neurol. 71 4 2014 449 453
-
(2014)
JAMA Neurol.
, vol.71
, Issue.4
, pp. 449-453
-
-
Cady, J.1
Koval, E.D.2
Benitez, B.A.3
Zaidman, C.4
Jockel-Balsarotti, J.5
Allred, P.6
Baloh, R.H.7
Ravits, J.8
Simpson, E.9
Appel, S.H.10
Pestronk, A.11
Goate, A.M.12
Miller, T.M.13
Cruchaga, C.14
Harms, M.B.15
-
27
-
-
84903367060
-
A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case
-
(e7-1513.e11)
-
A. Calvo, C. Moglia, A. Canosa, M. Brunetti, M. Barberis, B.J. Traynor, G. Carrara, C. Valentini, G. Restagno, and A. Chiò A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case Neurobiol. Aging 35 6 2014 1513 (e7-1513.e11)
-
(2014)
Neurobiol. Aging
, vol.35
, Issue.6
, pp. 1513
-
-
Calvo, A.1
Moglia, C.2
Canosa, A.3
Brunetti, M.4
Barberis, M.5
Traynor, B.J.6
Carrara, G.7
Valentini, C.8
Restagno, G.9
Chiò, A.10
-
28
-
-
84877577668
-
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase
-
P.M. Campeau, G.M. Lenk, J.T. Lu, Y. Bae, L. Burrage, P. Turnpenny, J. Román Corona-Rivera, L. Morandi, M. Mora, H. Reutter, A.T. Vulto-van Silfhout, L. Faivre, E. Haan, R.A. Gibbs, M.H. Meisler, and B.H. Lee Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase Am. J. Hum. Genet. 92 5 2013 781 791
-
(2013)
Am. J. Hum. Genet.
, vol.92
, Issue.5
, pp. 781-791
-
-
Campeau, P.M.1
Lenk, G.M.2
Lu, J.T.3
Bae, Y.4
Burrage, L.5
Turnpenny, P.6
Román Corona-Rivera, J.7
Morandi, L.8
Mora, M.9
Reutter, H.10
Vulto-Van Silfhout, A.T.11
Faivre, L.12
Haan, E.13
Gibbs, R.A.14
Meisler, M.H.15
Lee, B.H.16
-
29
-
-
0000280462
-
Deux cas d'atrophie musculaire progressive avec lesions de la substance grise et des faisceaux antero-lateraux de la moelle epiniere [French]
-
J.M. Charcot, and A. Joffroy Deux cas d'atrophie musculaire progressive avec lesions de la substance grise et des faisceaux antero-lateraux de la moelle epiniere [French] Arch. Physiol. Neurol. Pathol. 2 1869 744
-
(1869)
Arch. Physiol. Neurol. Pathol.
, vol.2
, pp. 744
-
-
Charcot, J.M.1
Joffroy, A.2
-
30
-
-
85027958118
-
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients
-
A. Chaussenot, I. Le Ber, S. Ait-El-Mkadem, A. Camuzat, A. de Septenville, S. Bannwarth, E.C. Genin, V. Serre, G. Augé, The French research network on FTD and FTD-ALS, A. Brice, J. Pouget, and V. Paquis-Flucklinger Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients Neurobiol. Aging 14 2014 00491 00496 (pii:S0197-4580)
-
(2014)
Neurobiol. Aging
, Issue.14
, pp. 00491-00496
-
-
Chaussenot, A.1
Le Ber, I.2
Ait-El-Mkadem, S.3
Camuzat, A.4
De Septenville, A.5
Bannwarth, S.6
Genin, E.C.7
Serre, V.8
Augé, G.9
Brice, A.10
Pouget, J.11
Paquis-Flucklinger, V.12
-
31
-
-
2442658908
-
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
-
Y.Z. Chen, C.L. Bennett, H.M. Huynh, I.P. Blair, I. Puls, J. Irobi, I. Dierick, A. Abel, M.L. Kennerson, B.A. Rabin, G.A. Nicholson, M. Auer-Grumbach, K. Wagner, P. De Jonghe, J.W. Griffin, K.H. Fischbeck, V. Timmerman, D.R. Cornblath, and P.F. Chance DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) Am. J. Hum. Genet. 74 6 2004 1128 1135
-
(2004)
Am. J. Hum. Genet.
, vol.74
, Issue.6
, pp. 1128-1135
-
-
Chen, Y.Z.1
Bennett, C.L.2
Huynh, H.M.3
Blair, I.P.4
Puls, I.5
Irobi, J.6
Dierick, I.7
Abel, A.8
Kennerson, M.L.9
Rabin, B.A.10
Nicholson, G.A.11
Auer-Grumbach, M.12
Wagner, K.13
De Jonghe, P.14
Griffin, J.W.15
Fischbeck, K.H.16
Timmerman, V.17
Cornblath, D.R.18
Chance, P.F.19
-
32
-
-
78650048929
-
Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis
-
H.J. Chen, G. Anagnostou, A. Chai, J. Withers, A. Morris, J. Adhikaree, G. Pennetta, and J.S. de Belleroche Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis J. Biol. Chem. 285 51 2010 40266 40281
-
(2010)
J. Biol. Chem.
, vol.285
, Issue.51
, pp. 40266-40281
-
-
Chen, H.J.1
Anagnostou, G.2
Chai, A.3
Withers, J.4
Morris, A.5
Adhikaree, J.6
Pennetta, G.7
De Belleroche, J.S.8
-
33
-
-
84889579061
-
SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis
-
(e7-9)
-
Y. Chen, Z.Z. Zheng, X. Chen, R. Huang, Y. Yang, L. Yuan, L. Pan, S. Hadano, and H.F. Shang SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis Neurobiol. Aging 35 3 2014 726 (e7-9)
-
(2014)
Neurobiol. Aging
, vol.35
, Issue.3
, pp. 726
-
-
Chen, Y.1
Zheng, Z.Z.2
Chen, X.3
Huang, R.4
Yang, Y.5
Yuan, L.6
Pan, L.7
Hadano, S.8
Shang, H.F.9
-
34
-
-
84887404098
-
Exome sequencing to identify de novo mutations in sporadic ALS trios
-
A. Chesi, B.T. Staahl, A. Jovičić, J. Couthouis, M. Fasolino, A.R. Raphael, T. Yamazaki, L. Elias, M. Polak, C. Kelly, K.L. Williams, JA. Fifita, N.J. Maragakis, G.A. Nicholson, O.D. King, R. Reed, G.R. Crabtree, I.P. Blair, J.D. Glass, and A.D. Gitler Exome sequencing to identify de novo mutations in sporadic ALS trios Nat. Neurosci. 16 7 2013 851 855
-
(2013)
Nat. Neurosci.
, vol.16
, Issue.7
, pp. 851-855
-
-
Chesi, A.1
Staahl, B.T.2
Jovičić, A.3
Couthouis, J.4
Fasolino, M.5
Raphael, A.R.6
Yamazaki, T.7
Elias, L.8
Polak, M.9
Kelly, C.10
Williams, K.L.11
Fifita, J.A.12
Maragakis, N.J.13
Nicholson, G.A.14
King, O.D.15
Reed, R.16
Crabtree, G.R.17
Blair, I.P.18
Glass, J.D.19
Gitler, A.D.20
more..
-
35
-
-
81255143014
-
Epigenetic regulation of motor neuron cell death through DNA methylation
-
B.A. Chestnut, Q. Chang, A. Price, C. Lesuisse, M. Wong, and L.J. Martin Epigenetic regulation of motor neuron cell death through DNA methylation J. Neurosci. 31 46 2011 16619 16636
-
(2011)
J. Neurosci.
, vol.31
, Issue.46
, pp. 16619-16636
-
-
Chestnut, B.A.1
Chang, Q.2
Price, A.3
Lesuisse, C.4
Wong, M.5
Martin, L.J.6
-
36
-
-
40349102131
-
Prevalence of SOD1 mutations in the Italian ALS population
-
A. Chiò, B.J. Traynor, F. Lombardo, M. Fimognari, A. Calvo, P. Ghiglione, R. Mutani, and G. Restagno Prevalence of SOD1 mutations in the Italian ALS population Neurology 70 7 2008 533 537
-
(2008)
Neurology
, vol.70
, Issue.7
, pp. 533-537
-
-
Chiò, A.1
Traynor, B.J.2
Lombardo, F.3
Fimognari, M.4
Calvo, A.5
Ghiglione, P.6
Mutani, R.7
Restagno, G.8
-
37
-
-
70450180994
-
Prognostic factors in ALS: A critical review
-
A. Chiò, G. Logroscino, O. Hardiman, R. Swingler, D. Mitchell, E. Beghi, B.G Traynor, and Eurals Consortium Prognostic factors in ALS: a critical review Amyotroph. Lateral Scler. 10 5-6 2009 310 323
-
(2009)
Amyotroph. Lateral Scler.
, vol.10
, Issue.56
, pp. 310-323
-
-
Chiò, A.1
Logroscino, G.2
Hardiman, O.3
Swingler, R.4
Mitchell, D.5
Beghi, E.6
Traynor, B.G.7
Consortium, E.8
-
38
-
-
64549117768
-
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis
-
A. Chiò, J.C. Schymick, G. Restagno, S.W. Scholz, F. Lombardo, S.L. Lai, G. Mora, H.C. Fung, A. Britton, S. Arepalli, J.R. Gibbs, M. Nalls, S. Berger, L.C. Kwee, E.Z. Oddone, J. Ding, C. Crews, I. Rafferty, N. Washecka, D. Hernandez, L. Ferrucci, S. Bandinelli, J. Guralnik, F. Macciardi, F. Torri, S. Lupoli, S.J. Chanock, G. Thomas, D.J. Hunter, C. Gieger, H.E. Wichmann, A. Calvo, R. Mutani, S. Battistini, F. Giannini, C. Caponnetto, G.L. Mancardi, V. La Bella, F. Valentino, M.R. Monsurrò, G. Tedeschi, K. Marinou, M. Sabatelli, A. Conte, J. Mandrioli, P. Sola, F. Salvi, I. Bartolomei, G. Siciliano, C. Carlesi, R.W. Orrell, K. Talbot, Z. Simmons, J. Connor, E.P. Pioro, T. Dunkley, D.A. Stephan, D. Kasperaviciute, E.M. Fisher, S. Jabonka, M. Sendtner, M. Beck, L. Bruijn, J. Rothstein, S. Schmidt, A. Singleton, J. Hardy, and B.J. Traynor A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis Hum. Mol. Genet. 18 8 2009 1524 1532
-
(2009)
Hum. Mol. Genet.
, vol.18
, Issue.8
, pp. 1524-1532
-
-
Chiò, A.1
Schymick, J.C.2
Restagno, G.3
Scholz, S.W.4
Lombardo, F.5
Lai, S.L.6
Mora, G.7
Fung, H.C.8
Britton, A.9
Arepalli, S.10
Gibbs, J.R.11
Nalls, M.12
Berger, S.13
Kwee, L.C.14
Oddone, E.Z.15
Ding, J.16
Crews, C.17
Rafferty, I.18
Washecka, N.19
Hernandez, D.20
Ferrucci, L.21
Bandinelli, S.22
Guralnik, J.23
MacCiardi, F.24
Torri, F.25
Lupoli, S.26
Chanock, S.J.27
Thomas, G.28
Hunter, D.J.29
Gieger, C.30
Wichmann, H.E.31
Calvo, A.32
Mutani, R.33
Battistini, S.34
Giannini, F.35
Caponnetto, C.36
Mancardi, G.L.37
La Bella, V.38
Valentino, F.39
Monsurrò, M.R.40
Tedeschi, G.41
Marinou, K.42
Sabatelli, M.43
Conte, A.44
Mandrioli, J.45
Sola, P.46
Salvi, F.47
Bartolomei, I.48
Siciliano, G.49
Carlesi, C.50
Orrell, R.W.51
Talbot, K.52
Simmons, Z.53
Connor, J.54
Pioro, E.P.55
Dunkley, T.56
Stephan, D.A.57
Kasperaviciute, D.58
Fisher, E.M.59
Jabonka, S.60
Sendtner, M.61
Beck, M.62
Bruijn, L.63
Rothstein, J.64
Schmidt, S.65
Singleton, A.66
Hardy, J.67
Traynor, B.J.68
more..
-
39
-
-
77955444414
-
Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations
-
A. Chiò, A. Calvo, C. Moglia, G. Restagno, I. Ossola, M. Brunetti, A. Montuschi, A. Cistaro, A. Ticca, B.J. Traynor, J.C. Schymick, R. Mutani, M.G. Marrosu, M.R. Murru, and G. Borghero Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations Arch. Neurol. 67 8 2010 1002 1009
-
(2010)
Arch. Neurol.
, vol.67
, Issue.8
, pp. 1002-1009
-
-
Chiò, A.1
Calvo, A.2
Moglia, C.3
Restagno, G.4
Ossola, I.5
Brunetti, M.6
Montuschi, A.7
Cistaro, A.8
Ticca, A.9
Traynor, B.J.10
Schymick, J.C.11
Mutani, R.12
Marrosu, M.G.13
Murru, M.R.14
Borghero, G.15
-
40
-
-
79955767066
-
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene
-
Italian Amyotrophic Lateral Sclerosis Genetic (ITALSGEN) Consortium
-
A. Chiò, G. Borghero, M. Pugliatti, A. Ticca, A. Calvo, C. Moglia, R. Mutani, M. Brunetti, I. Ossola, M.G. Marrosu, M.R. Murru, G. Floris, A. Cannas, L.D. Parish, P. Cossu, Y. Abramzon, J.O. Johnson, M.A. Nalls, S. Arepalli, S. Chong, D.G. Hernandez, B.J. Traynor, G. Restagno, and Italian Amyotrophic Lateral Sclerosis Genetic (ITALSGEN) Consortium Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene Arch. Neurol. 68 5 2011 594 598
-
(2011)
Arch. Neurol.
, vol.68
, Issue.5
, pp. 594-598
-
-
Chiò, A.1
Borghero, G.2
Pugliatti, M.3
Ticca, A.4
Calvo, A.5
Moglia, C.6
Mutani, R.7
Brunetti, M.8
Ossola, I.9
Marrosu, M.G.10
Murru, M.R.11
Floris, G.12
Cannas, A.13
Parish, L.D.14
Cossu, P.15
Abramzon, Y.16
Johnson, J.O.17
Nalls, M.A.18
Arepalli, S.19
Chong, S.20
Hernandez, D.G.21
Traynor, B.J.22
Restagno, G.23
more..
-
41
-
-
79952901359
-
A de novo missense mutation of the FUS gene in a "true" sporadic ALS case
-
(e23-6)
-
A. Chiò, A. Calvo, C. Moglia, I. Ossola, M. Brunetti, L. Sbaiz, S.L. Lai, Y. Abramzon, B.J. Traynor, and G. Restagno A de novo missense mutation of the FUS gene in a "true" sporadic ALS case Neurobiol. Aging 32 3 2011 553 (e23-6)
-
(2011)
Neurobiol. Aging
, vol.32
, Issue.3
, pp. 553
-
-
Chiò, A.1
Calvo, A.2
Moglia, C.3
Ossola, I.4
Brunetti, M.5
Sbaiz, L.6
Lai, S.L.7
Abramzon, Y.8
Traynor, B.J.9
Restagno, G.10
-
42
-
-
84857522741
-
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
-
A. Chiò, G. Borghero, G. Restagno, G. Mora, C. Drepper, B.J. Traynor, M. Sendtner, M. Brunetti, I. Ossola, A. Calvo, M. Pugliatti, M.A. Sotgiu, M.R. Murru, M.G. Marrosu, F. Marrosu, K. Marinou, J. Mandrioli, P. Sola, C. Caponnetto, G. Mancardi, P. Mandich, V. La Bella, R. Spataro, A. Conte, M.R. Monsurrò, G. Tedeschi, F. Pisano, I. Bartolomei, F. Salvi, G. Lauria Pinter, I. Simone, G. Logroscino, A. Gambardella, A. Quattrone, C. Lunetta, P. Volanti, M. Zollino, S. Penco, S. Battistini, ITALSGEN consortium, A.E. Renton, E. Majounie, Y. Abramzon, F.L. Conforti, F. Giannini, M. Corbo, and M. Sabatelli Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 Brain 135 Pt 3 2012 784 793
-
(2012)
Brain
, vol.135
, pp. 784-793
-
-
Chiò, A.1
Borghero, G.2
Restagno, G.3
Mora, G.4
Drepper, C.5
Traynor, B.J.6
Sendtner, M.7
Brunetti, M.8
Ossola, I.9
Calvo, A.10
Pugliatti, M.11
Sotgiu, M.A.12
Murru, M.R.13
Marrosu, M.G.14
Marrosu, F.15
Marinou, K.16
Mandrioli, J.17
Sola, P.18
Caponnetto, C.19
Mancardi, G.20
Mandich, P.21
La Bella, V.22
Spataro, R.23
Conte, A.24
Monsurrò, M.R.25
Tedeschi, G.26
Pisano, F.27
Bartolomei, I.28
Salvi, F.29
Lauria Pinter, G.30
Simone, I.31
Logroscino, G.32
Gambardella, A.33
Quattrone, A.34
Lunetta, C.35
Volanti, P.36
Zollino, M.37
Penco, S.38
Battistini, S.39
Consortium, I.40
Renton, A.E.41
Majounie, E.42
Abramzon, Y.43
Conforti, F.L.44
Giannini, F.45
Corbo, M.46
Sabatelli, M.47
more..
-
43
-
-
84861853839
-
ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations
-
A. Chiò, G. Restagno, M. Brunetti, I. Ossola, A. Calvo, A. Canosa, C. Moglia, G. Floris, P. Tacconi, F. Marrosu, M.G. Marrosu, M.R. Murru, E. Majounie, A.E. Renton, Y. Abramzon, M. Pugliatti, M.A. Sotgiu, B.J. Traynor, G. Borghero, and SARDINIALS Consortium ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations J. Neurol. Neurosurg. Psychiatry 83 7 2012 730 733
-
(2012)
J. Neurol. Neurosurg. Psychiatry
, vol.83
, Issue.7
, pp. 730-733
-
-
Chiò, A.1
Restagno, G.2
Brunetti, M.3
Ossola, I.4
Calvo, A.5
Canosa, A.6
Moglia, C.7
Floris, G.8
Tacconi, P.9
Marrosu, F.10
Marrosu, M.G.11
Murru, M.R.12
Majounie, E.13
Renton, A.E.14
Abramzon, Y.15
Pugliatti, M.16
Sotgiu, M.A.17
Traynor, B.J.18
Borghero, G.19
Consortium, S.20
more..
-
44
-
-
84868096807
-
UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: A population-based study
-
A. Chiò, G. Mora, G. Restagno, M. Brunetti, I. Ossola, M. Barberis, L. Ferrucci, A. Canosa, U. Manera, C. Moglia, G. Fuda, B.J. Traynor, and A. Calvo UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study Neurobiol. Aging 34 1 357 2013 e1 e5
-
(2013)
Neurobiol. Aging 34
, vol.1
, Issue.357
, pp. e1-e5
-
-
Chiò, A.1
Mora, G.2
Restagno, G.3
Brunetti, M.4
Ossola, I.5
Barberis, M.6
Ferrucci, L.7
Canosa, A.8
Manera, U.9
Moglia, C.10
Fuda, G.11
Traynor, B.J.12
Calvo, A.13
-
45
-
-
58049192812
-
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS
-
C.Y. Chow, J.E. Landers, S.K. Bergren, P.C. Sapp, A.E. Grant, J.M. Jones, L. Everett, G.M. Lenk, D.M. McKenna-Yasek, L.S. Weisman, D. Figlewicz, R.H. Brown, and M.H. Meisler Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS Am. J. Hum. Genet. 84 1 2009 85 88
-
(2009)
Am. J. Hum. Genet.
, vol.84
, Issue.1
, pp. 85-88
-
-
Chow, C.Y.1
Landers, J.E.2
Bergren, S.K.3
Sapp, P.C.4
Grant, A.E.5
Jones, J.M.6
Everett, L.7
Lenk, G.M.8
McKenna-Yasek, D.M.9
Weisman, L.S.10
Figlewicz, D.11
Brown, R.H.12
Meisler, M.H.13
-
46
-
-
84855993931
-
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis
-
A. Conte, S. Lattante, M. Zollino, G. Marangi, M. Luigetti, A. Del Grande, S. Servidei, F. Trombetta, and M. Sabatelli P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis Neuromuscul. Disord 22 1 2012 73 75
-
(2012)
Neuromuscul. Disord
, vol.22
, Issue.1
, pp. 73-75
-
-
Conte, A.1
Lattante, S.2
Zollino, M.3
Marangi, G.4
Luigetti, M.5
Del Grande, A.6
Servidei, S.7
Trombetta, F.8
Sabatelli, M.9
-
47
-
-
0036156999
-
Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis
-
French ALS Research Group
-
P. Corcia, V. Mayeux-Portas, J. Khoris, B. de Toffol, A. Autret, JP. Müh, W. Camu, C. Andres, and French ALS Research Group. Amyotrophic Lateral Sclerosis Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis Ann. Neurol. 51 2 2002 243 246
-
(2002)
Ann. Neurol.
, vol.51
, Issue.2
, pp. 243-246
-
-
Corcia, P.1
Mayeux-Portas, V.2
Khoris, J.3
De Toffol, B.4
Autret, A.5
Müh, J.P.6
Camu, W.7
Andres, C.8
-
48
-
-
33749848158
-
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS
-
P. Corcia, W. Camu, J.M. Halimi, P. Vourc'h, C. Antar, S. Vedrine, B. Giraudeau, B. de Toffol, C.R Andres, and French ALS Study Group SMN1 gene, but not SMN2, is a risk factor for sporadic ALS Neurology 67 7 2006 1147 1150
-
(2006)
Neurology
, vol.67
, Issue.7
, pp. 1147-1150
-
-
Corcia, P.1
Camu, W.2
Halimi, J.M.3
Vourc'H, P.4
Antar, C.5
Vedrine, S.6
Giraudeau, B.7
De Toffol, B.8
Andres, C.R.9
Als Study Group, F.10
-
49
-
-
84859911665
-
Homozygous SMN2 deletion is a protective factor in the Swedish ALS population
-
P. Corcia, C. Ingre, H. Blasco, R. Press, J. Praline, C. Antar, C. Veyrat-Durebex, Y.O. Guettard, W. Camu, P.M. Andersen, P. Vourc'h, and C.R. Andres Homozygous SMN2 deletion is a protective factor in the Swedish ALS population Eur. J. Hum. Genet. 20 5 2012 588 591
-
(2012)
Eur. J. Hum. Genet.
, vol.20
, Issue.5
, pp. 588-591
-
-
Corcia, P.1
Ingre, C.2
Blasco, H.3
Press, R.4
Praline, J.5
Antar, C.6
Veyrat-Durebex, C.7
Guettard, Y.O.8
Camu, W.9
Andersen, P.M.10
Vourc'H, P.11
Andres, C.R.12
-
50
-
-
79952899321
-
A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient
-
(e1-6)
-
L. Corrado, Y. Carlomagno, L. Falasco, S. Mellone, M. Godi, E. Cova, C. Cereda, L. Testa, L. Mazzini, and S. D'Alfonso A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient Neurobiol. Aging 32 3 2011 552 (e1-6)
-
(2011)
Neurobiol. Aging
, vol.32
, Issue.3
, pp. 552
-
-
Corrado, L.1
Carlomagno, Y.2
Falasco, L.3
Mellone, S.4
Godi, M.5
Cova, E.6
Cereda, C.7
Testa, L.8
Mazzini, L.9
D'Alfonso, S.10
-
51
-
-
84862908655
-
A yeast functional screen predicts new candidate ALS disease genes
-
J. Couthouis, M.P. Hart, J. Shorter, M. DeJesus-Hernandez, R. Erion, R. Oristano, A.X. Liu, D. Ramos, N. Jethava, D. Hosangadi, J. Epstein, A. Chiang, Z. Diaz, T. Nakaya, F. Ibrahim, H.J. Kim, J.A. Solski, K.L. Williams, J. Mojsilovic-Petrovic, C. Ingre, K. Boylan, N.R. Graff-Radford, D.W. Dickson, D. Clay-Falcone, L. Elman, L. McCluskey, R. Greene, R.G. Kalb, V.M. Lee, J.Q. Trojanowski, A. Ludolph, W. Robberecht, P.M. Andersen, G.A. Nicholson, I.P. Blair, O.D. King, N.M. Bonini, V. Van Deerlin, R. Rademakers, Z. Mourelatos, and A.D. Gitler A yeast functional screen predicts new candidate ALS disease genes Proc. Natl. Acad. Sci. U.S.A 108 52 2011 20881 20890
-
(2011)
Proc. Natl. Acad. Sci. U.S.A
, vol.108
, Issue.52
, pp. 20881-20890
-
-
Couthouis, J.1
Hart, M.P.2
Shorter, J.3
Dejesus-Hernandez, M.4
Erion, R.5
Oristano, R.6
Liu, A.X.7
Ramos, D.8
Jethava, N.9
Hosangadi, D.10
Epstein, J.11
Chiang, A.12
Diaz, Z.13
Nakaya, T.14
Ibrahim, F.15
Kim, H.J.16
Solski, J.A.17
Williams, K.L.18
Mojsilovic-Petrovic, J.19
Ingre, C.20
Boylan, K.21
Graff-Radford, N.R.22
Dickson, D.W.23
Clay-Falcone, D.24
Elman, L.25
McCluskey, L.26
Greene, R.27
Kalb, R.G.28
Lee, V.M.29
Trojanowski, J.Q.30
Ludolph, A.31
Robberecht, W.32
Andersen, P.M.33
Nicholson, G.A.34
Blair, I.P.35
King, O.D.36
Bonini, N.M.37
Van Deerlin, V.38
Rademakers, R.39
Mourelatos, Z.40
Gitler, A.D.41
more..
-
52
-
-
84863507711
-
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
-
J. Couthouis, M.P. Hart, R. Erion, O.D. King, Z. Diaz, T. Nakaya, F. Ibrahim, H.J. Kim, J. Mojsilovic-Petrovic, S. Panossian, C.E. Kim, E.C. Frackelton, J.A. Solski, K.L. Williams, D. Clay-Falcone, L. Elman, L. McCluskey, R. Greene, H. Hakonarson, R.G. Kalb, V.M. Lee, J.Q. Trojanowski, G.A. Nicholson, I.P. Blair, N.M. Bonini, V.M. Van Deerlin, Z. Mourelatos, J. Shorter, and A.D. Gitler Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis Hum. Mol. Genet. 21 13 2012 2899 2911
-
(2012)
Hum. Mol. Genet.
, vol.21
, Issue.13
, pp. 2899-2911
-
-
Couthouis, J.1
Hart, M.P.2
Erion, R.3
King, O.D.4
Diaz, Z.5
Nakaya, T.6
Ibrahim, F.7
Kim, H.J.8
Mojsilovic-Petrovic, J.9
Panossian, S.10
Kim, C.E.11
Frackelton, E.C.12
Solski, J.A.13
Williams, K.L.14
Clay-Falcone, D.15
Elman, L.16
McCluskey, L.17
Greene, R.18
Hakonarson, H.19
Kalb, R.G.20
Lee, V.M.21
Trojanowski, J.Q.22
Nicholson, G.A.23
Blair, I.P.24
Bonini, N.M.25
Van Deerlin, V.M.26
Mourelatos, Z.27
Shorter, J.28
Gitler, A.D.29
more..
-
53
-
-
77956392186
-
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)
-
e9872 2010
-
L.E. Cox, L. Ferraiuolo, E.F. Goodall, P.R. Heath, A. Higginbottom, H. Mortiboys, H.C. Hollinger, J.A. Hartley, A. Brockington, C.E. Burness, K.E. Morrison, S.B. Wharton, A.J. Grierson, P.G. Ince, J. Kirby, and P.J. Shaw Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS) PLoS One 5 3 2010 e9872 2010
-
(2010)
PLoS One
, vol.5
, Issue.3
-
-
Cox, L.E.1
Ferraiuolo, L.2
Goodall, E.F.3
Heath, P.R.4
Higginbottom, A.5
Mortiboys, H.6
Hollinger, H.C.7
Hartley, J.A.8
Brockington, A.9
Burness, C.E.10
Morrison, K.E.11
Wharton, S.B.12
Grierson, A.J.13
Ince, P.G.14
Kirby, J.15
Shaw, P.J.16
-
55
-
-
34147123804
-
Ethnic variation in the incidence of ALS: A systematic review
-
S. Cronin, O. Hardiman, and B.J. Traynor Ethnic variation in the incidence of ALS: a systematic review Neurology 68 13 2007 1002 1007
-
(2007)
Neurology
, vol.68
, Issue.13
, pp. 1002-1007
-
-
Cronin, S.1
Hardiman, O.2
Traynor, B.J.3
-
56
-
-
39749119374
-
A genome-wide association study of sporadic ALS in a homogenous Irish population
-
S. Cronin, S. Berger, J. Ding, J.C. Schymick, N. Washecka, D.G. Hernandez, M.J. Greenway, D.G. Bradley, B.J. Traynor, and O. Hardiman A genome-wide association study of sporadic ALS in a homogenous Irish population Hum. Mol. Genet. 17 5 2008 768 774
-
(2008)
Hum. Mol. Genet.
, vol.17
, Issue.5
, pp. 768-774
-
-
Cronin, S.1
Berger, S.2
Ding, J.3
Schymick, J.C.4
Washecka, N.5
Hernandez, D.G.6
Greenway, M.J.7
Bradley, D.G.8
Traynor, B.J.9
Hardiman, O.10
-
57
-
-
54449094741
-
Analysis of genome-wide copy number variation in Irish and Dutch ALS populations
-
S. Cronin, H.M. Blauw, J.H. Veldink, M.A. van Es, R.A. Ophoff, D.G. Bradley, L.H. van den Berg, and O. Hardiman Analysis of genome-wide copy number variation in Irish and Dutch ALS populations Hum. Mol. Genet. 17 21 2008 3392 3398
-
(2008)
Hum. Mol. Genet.
, vol.17
, Issue.21
, pp. 3392-3398
-
-
Cronin, S.1
Blauw, H.M.2
Veldink, J.H.3
Van Es, M.A.4
Ophoff, R.A.5
Bradley, D.G.6
Van Den Berg, L.H.7
Hardiman, O.8
-
58
-
-
84926200943
-
Sur la paralysie musculaire, progressive, atrophique [French]. Bull
-
J. Cruveilhier Sur la paralysie musculaire, progressive, atrophique [French]. Bull Acad. Med. (Paris) 18 490-502 1852 546 583
-
(1852)
Acad. Med. (Paris)
, vol.18
, Issue.490-502
, pp. 546-583
-
-
Cruveilhier, J.1
-
59
-
-
0030810921
-
Intrathecal administration of recombinant human superoxide dismutase 1 in amyotrophic lateral sclerosis: A preliminary safety and pharmacokinetic study
-
M.E. Cudkowicz, L. Warren, J.W. Francis, K.J. Lloyd, R.M. Friedlander, L.F. Borges, N. Kassem, T.L. Munsat, and R.H. Brown Jr. Intrathecal administration of recombinant human superoxide dismutase 1 in amyotrophic lateral sclerosis: a preliminary safety and pharmacokinetic study Neurology 49 1 1997 213 222
-
(1997)
Neurology
, vol.49
, Issue.1
, pp. 213-222
-
-
Cudkowicz, M.E.1
Warren, L.2
Francis, J.W.3
Lloyd, K.J.4
Friedlander, R.M.5
Borges, L.F.6
Kassem, N.7
Munsat, T.L.8
Brown, Jr.R.H.9
-
60
-
-
79958746230
-
Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis
-
H. Daoud, V. Belzil, S. Martins, M. Sabbagh, P. Provencher, L. Lacomblez, V. Meininger, W. Camu, N. Dupré, PA. Dion, and G.A. Rouleau Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis Arch. Neurol. 68 6 2011 739 742
-
(2011)
Arch. Neurol.
, vol.68
, Issue.6
, pp. 739-742
-
-
Daoud, H.1
Belzil, V.2
Martins, S.3
Sabbagh, M.4
Provencher, P.5
Lacomblez, L.6
Meininger, V.7
Camu, W.8
Dupré, N.9
Dion, P.A.10
Rouleau, G.A.11
-
61
-
-
84856970463
-
Exome sequencing reveals SPG11 mutations causing juvenile ALS
-
(e5-9)
-
H. Daoud, S. Zhou, A. Noreau, M. Sabbagh, V. Belzil, A. Dionne-Laporte, C. Tranchant, P. Dion, and G.A. Rouleau Exome sequencing reveals SPG11 mutations causing juvenile ALS Neurobiol. Aging 33 4 2012 839 (e5-9)
-
(2012)
Neurobiol. Aging
, vol.33
, Issue.4
, pp. 839
-
-
Daoud, H.1
Zhou, S.2
Noreau, A.3
Sabbagh, M.4
Belzil, V.5
Dionne-Laporte, A.6
Tranchant, C.7
Dion, P.8
Rouleau, G.A.9
-
62
-
-
66849142526
-
CMT4J: Charcot-Marie-Tooth disorder caused by mutations in FIG4
-
C.N. de Leeuw CMT4J: Charcot-Marie-Tooth disorder caused by mutations in FIG4 Clin. Genet. 73 4 2008 318 319
-
(2008)
Clin. Genet.
, vol.73
, Issue.4
, pp. 318-319
-
-
De Leeuw, C.N.1
-
63
-
-
77951784437
-
De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis
-
M. DeJesus-Hernandez, J. Kocerha, N. Finch, R. Crook, M. Baker, P. Desaro, A. Johnston, N. Rutherford, A. Wojtas, K. Kennelly, ZK. Wszolek, N. Graff-Radford, K. Boylan, and R. Rademakers De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis Hum. Mutat. 31 5 2010 E1377 E1389
-
(2010)
Hum. Mutat.
, vol.31
, Issue.5
, pp. E1377-E1389
-
-
Dejesus-Hernandez, M.1
Kocerha, J.2
Finch, N.3
Crook, R.4
Baker, M.5
Desaro, P.6
Johnston, A.7
Rutherford, N.8
Wojtas, A.9
Kennelly, K.10
Wszolek, Z.K.11
Graff-Radford, N.12
Boylan, K.13
Rademakers, R.14
-
64
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
M. DeJesus-Hernandez, I.R. Mackenzie, B.F. Boeve, A.L. Boxer, M. Baker, N.J. Rutherford, A.M. Nicholson, N.A. Finch, H. Flynn, J. Adamson, N. Kouri, A. Wojtas, P. Sengdy, GY. Hsiung, A. Karydas, W.W. Seeley, K.A. Josephs, G. Coppola, D.H. Geschwind, Z.K. Wszolek, H. Feldman, D.S. Knopman, R.C. Petersen, B.L. Miller, D.W. Dickson, K.B. Boylan, N.R. Graff-Radford, and R. Rademakers Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS Neuron 72 2 2011 245 256
-
(2011)
Neuron
, vol.72
, Issue.2
, pp. 245-256
-
-
Dejesus-Hernandez, M.1
MacKenzie, I.R.2
Boeve, B.F.3
Boxer, A.L.4
Baker, M.5
Rutherford, N.J.6
Nicholson, A.M.7
Finch, N.A.8
Flynn, H.9
Adamson, J.10
Kouri, N.11
Wojtas, A.12
Sengdy, P.13
Hsiung, G.Y.14
Karydas, A.15
Seeley, W.W.16
Josephs, K.A.17
Coppola, G.18
Geschwind, D.H.19
Wszolek, Z.K.20
Feldman, H.21
Knopman, D.S.22
Petersen, R.C.23
Miller, B.L.24
Dickson, D.W.25
Boylan, K.B.26
Graff-Radford, N.R.27
Rademakers, R.28
more..
-
65
-
-
80052580969
-
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
-
H.X. Deng, W. Chen, S.T. Hong, K.M. Boycott, G.H. Gorrie, N. Siddique, Y. Yang, F. Fecto, Y. Shi, H. Zhai, H. Jiang, M. Hirano, E. Rampersaud, G.H. Jansen, S. Donkervoort, E.H. Bigio, B.R. Brooks, K. Ajroud, R.L. Sufit, J.L. Haines, E. Mugnaini, M.A. Pericak-Vance, and T. Siddique Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia Nature 477 7363 2011 211 215
-
(2011)
Nature
, vol.477
, Issue.7363
, pp. 211-215
-
-
Deng, H.X.1
Chen, W.2
Hong, S.T.3
Boycott, K.M.4
Gorrie, G.H.5
Siddique, N.6
Yang, Y.7
Fecto, F.8
Shi, Y.9
Zhai, H.10
Jiang, H.11
Hirano, M.12
Rampersaud, E.13
Jansen, G.H.14
Donkervoort, S.15
Bigio, E.H.16
Brooks, B.R.17
Ajroud, K.18
Sufit, R.L.19
Haines, J.L.20
Mugnaini, E.21
Pericak-Vance, M.A.22
Siddique, T.23
more..
-
66
-
-
84878723887
-
Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis
-
M. Deng, L. Wei, X. Zuo, Y. Tian, F. Xie, P. Hu, C. Zhu, F. Yu, Y. Meng, H. Wang, F. Zhang, H. Ma, R. Ye, H. Cheng, J. Du, W. Dong, S. Zhou, C. Wang, Y. Wang, J. Wang, X. Chen, Z. Sun, N. Zhou, Y. Jiang, X. Liu, X. Li, N. Zhang, N. Liu, Y. Guan, Y. Han, Y. Han, X. Lv, Y. Fu, H. Yu, C. Xi, D. Xie, Q. Zhao, P. Xie, X. Wang, Z. Zhang, L. Shen, Y. Cui, X. Yin, H. Cheng, B. Liang, X. Zheng, T.M. Lee, G. Chen, F. Zhou, J.H. Veldink, W. Robberecht, J.E. Landers, P.M. Andersen, A. Al-Chalabi, C. Shaw, C. Liu, B. Tang, S. Xiao, J. Robertson, F. Zhang, L.H. van den Berg, L. Sun, J. Liu, S. Yang, X. Ju, K. Wang, and X. Zhang Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis Nat. Genet. 45 6 2013 697 700
-
(2013)
Nat. Genet.
, vol.45
, Issue.6
, pp. 697-700
-
-
Deng, M.1
Wei, L.2
Zuo, X.3
Tian, Y.4
Xie, F.5
Hu, P.6
Zhu, C.7
Yu, F.8
Meng, Y.9
Wang, H.10
Zhang, F.11
Ma, H.12
Ye, R.13
Cheng, H.14
Du, J.15
Dong, W.16
Zhou, S.17
Wang, C.18
Wang, Y.19
Wang, J.20
Chen, X.21
Sun, Z.22
Zhou, N.23
Jiang, Y.24
Liu, X.25
Li, X.26
Zhang, N.27
Liu, N.28
Guan, Y.29
Han, Y.30
Han, Y.31
Lv, X.32
Fu, Y.33
Yu, H.34
Xi, C.35
Xie, D.36
Zhao, Q.37
Xie, P.38
Wang, X.39
Zhang, Z.40
Shen, L.41
Cui, Y.42
Yin, X.43
Cheng, H.44
Liang, B.45
Zheng, X.46
Lee, T.M.47
Chen, G.48
Zhou, F.49
Veldink, J.H.50
Robberecht, W.51
Landers, J.E.52
Andersen, P.M.53
Al-Chalabi, A.54
Shaw, C.55
Liu, C.56
Tang, B.57
Xiao, S.58
Robertson, J.59
Zhang, F.60
Van Den Berg, L.H.61
Sun, L.62
Liu, J.63
Yang, S.64
Ju, X.65
Wang, K.66
Zhang, X.67
more..
-
67
-
-
84855795589
-
UNC13A is a modifier of survival in amyotrophic lateral sclerosis
-
(630)
-
F.P. Diekstra, P.W. van Vught, W. van Rheenen, M. Koppers, R.J. Pasterkamp, M.A. van Es, H.J. Schelhaas, M. de Visser, W. Robberecht, P. Van Damme, P.M. Andersen, L.H. van den Berg, and J.H. Veldink UNC13A is a modifier of survival in amyotrophic lateral sclerosis Neurobiol. Aging 33 3 2012 e3 e8 (630)
-
(2012)
Neurobiol. Aging
, vol.33
, Issue.3
, pp. e3-e8
-
-
Diekstra, F.P.1
Van Vught, P.W.2
Van Rheenen, W.3
Koppers, M.4
Pasterkamp, R.J.5
Van Es, M.A.6
Schelhaas, H.J.7
De Visser, M.8
Robberecht, W.9
Van Damme, P.10
Andersen, P.M.11
Van Den Berg, L.H.12
Veldink, J.H.13
-
68
-
-
34548083742
-
Whole-genome analysis of sporadic amyotrophic lateral sclerosis
-
T. Dunckley, M.J. Huentelman, D.W. Craig, J.V. Pearson, S. Szelinger, K. Joshipura, R.F. Halperin, C. Stamper, K.R. Jensen, D. Letizia, S.E. Hesterlee, A. Pestronk, T. Levine, T. Bertorini, M.C. Graves, T. Mozaffar, C.E. Jackson, P. Bosch, A. McVey, A. Dick, R. Barohn, C. Lomen-Hoerth, J. Rosenfeld, D.T. O'connor, K. Zhang, R. Crook, H. Ryberg, M. Hutton, J. Katz, E.P. Simpson, H. Mitsumoto, R. Bowser, R.G. Miller, S.H. Appel, and D.A. Stephan Whole-genome analysis of sporadic amyotrophic lateral sclerosis N. Engl. J. Med. 357 8 2007 775 788
-
(2007)
N. Engl. J. Med.
, vol.357
, Issue.8
, pp. 775-788
-
-
Dunckley, T.1
Huentelman, M.J.2
Craig, D.W.3
Pearson, J.V.4
Szelinger, S.5
Joshipura, K.6
Halperin, R.F.7
Stamper, C.8
Jensen, K.R.9
Letizia, D.10
Hesterlee, S.E.11
Pestronk, A.12
Levine, T.13
Bertorini, T.14
Graves, M.C.15
Mozaffar, T.16
Jackson, C.E.17
Bosch, P.18
McVey, A.19
Dick, A.20
Barohn, R.21
Lomen-Hoerth, C.22
Rosenfeld, J.23
O'Connor, D.T.24
Zhang, K.25
Crook, R.26
Ryberg, H.27
Hutton, M.28
Katz, J.29
Simpson, E.P.30
Mitsumoto, H.31
Bowser, R.32
Miller, R.G.33
Appel, S.H.34
Stephan, D.A.35
more..
-
69
-
-
20044374998
-
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy
-
A. Duquette, K. Roddier, J. McNabb-Baltar, I. Gosselin, A. St-Denis, MJ. Dicaire, L. Loisel, D. Labuda, L. Marchand, J. Mathieu, J.P. Bouchard, and B. Brais Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy Ann. Neurol. 57 3 2005 408 414
-
(2005)
Ann. Neurol.
, vol.57
, Issue.3
, pp. 408-414
-
-
Duquette, A.1
Roddier, K.2
McNabb-Baltar, J.3
Gosselin, I.4
St-Denis, A.5
Dicaire, M.J.6
Loisel, L.7
Labuda, D.8
Marchand, L.9
Mathieu, J.10
Bouchard, J.P.11
Brais, B.12
-
70
-
-
77956155218
-
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
-
A.C. Elden, H.J. Kim, M.P. Hart, A.S. Chen-Plotkin, B.S. Johnson, X. Fang, M. Armakola, F. Geser, R. Greene, M.M. Lu, A. Padmanabhan, D. Clay-Falcone, L. McCluskey, L. Elman, D. Juhr, P.J. Gruber, U. Rüb, G. Auburger, J.Q. Trojanowski, V.M. Lee, V.M. Van Deerlin, N.M. Bonini, and A.D. Gitler Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS Nature 466 7310 2010 1069 1075
-
(2010)
Nature
, vol.466
, Issue.7310
, pp. 1069-1075
-
-
Elden, A.C.1
Kim, H.J.2
Hart, M.P.3
Chen-Plotkin, A.S.4
Johnson, B.S.5
Fang, X.6
Armakola, M.7
Geser, F.8
Greene, R.9
Lu, M.M.10
Padmanabhan, A.11
Clay-Falcone, D.12
McCluskey, L.13
Elman, L.14
Juhr, D.15
Gruber, P.J.16
Rüb, U.17
Auburger, G.18
Trojanowski, J.Q.19
Lee, V.M.20
Van Deerlin, V.M.21
Bonini, N.M.22
Gitler, A.D.23
more..
-
71
-
-
84884130368
-
De novo mutations in epileptic encephalopathies
-
Epi4K Consortium, Epilepsy Phenome/Genome Project, A.S. Allen, S.F. Berkovic, P. Cossette, N. Delanty, D. Dlugos, E.E. Eichler, M.P. Epstein, T. Glauser, D.B. Goldstein, Y. Han, E.L. Heinzen, Y. Hitomi, K.B. Howell, M.R. Johnson, R. Kuzniecky, D.H. Lowenstein, Y.F. Lu, M.R. Madou, A.G. Marson, H.C. Mefford, S. Esmaeeli Nieh, T.J. O'Brien, R. Ottman, S. Petrovski, A. Poduri, E.K. Ruzzo, I.E. Scheffer, E.H. Sherr, C.J. Yuskaitis, B. Abou-Khalil, B.K. Alldredge, J.F. Bautista, S.F. Berkovic, A. Boro, G.D. Cascino, D. Consalvo, P. Crumrine, O. Devinsky, D. Dlugos, M.P. Epstein, M. Fiol, N.B. Fountain, J. French, D. Friedman, E.B. Geller, T. Glauser, S. Glynn, S.R. Haut, J. Hayward, S.L. Helmers, S. Joshi, A. Kanner, H.E. Kirsch, R.C. Knowlton, E.H. Kossoff, R. Kuperman, R. Kuzniecky, D.H. Lowenstein, S.M. McGuire, P.V. Motika, E.J. Novotny, R. Ottman, J.M. Paolicchi, J.M. Parent, K. Park, A. Poduri, I.E. Scheffer, R.A. Shellhaas, E.H. Sherr, J.J. Shih, R. Singh, J. Sirven, M.C. Smith, J. Sullivan, L. Lin Thio, A. Venkat, E.P. Vining, G.K. Von Allmen, J.L. Weisenberg, P. Widdess-Walsh, and M.R. Winawer De novo mutations in epileptic encephalopathies Nature 501 7466 2013 217 221
-
(2013)
Nature
, vol.501
, Issue.7466
, pp. 217-221
-
-
Consortium, E.1
Phenome/genome Project, E.2
Allen, A.S.3
Berkovic, S.F.4
Cossette, P.5
Delanty, N.6
Dlugos, D.7
Eichler, E.E.8
Epstein, M.P.9
Glauser, T.10
Goldstein, D.B.11
Han, Y.12
Heinzen, E.L.13
Hitomi, Y.14
Howell, K.B.15
Johnson, M.R.16
Kuzniecky, R.17
Lowenstein, D.H.18
Lu, Y.F.19
Madou, M.R.20
Marson, A.G.21
Mefford, H.C.22
Esmaeeli Nieh, S.23
O'Brien, T.J.24
Ottman, R.25
Petrovski, S.26
Poduri, A.27
Ruzzo, E.K.28
Scheffer, I.E.29
Sherr, E.H.30
Yuskaitis, C.J.31
Abou-Khalil, B.32
Alldredge, B.K.33
Bautista, J.F.34
Berkovic, S.F.35
Boro, A.36
Cascino, G.D.37
Consalvo, D.38
Crumrine, P.39
Devinsky, O.40
Dlugos, D.41
Epstein, M.P.42
Fiol, M.43
Fountain, N.B.44
French, J.45
Friedman, D.46
Geller, E.B.47
Glauser, T.48
Glynn, S.49
Haut, S.R.50
Hayward, J.51
Helmers, S.L.52
Joshi, S.53
Kanner, A.54
Kirsch, H.E.55
Knowlton, R.C.56
Kossoff, E.H.57
Kuperman, R.58
Kuzniecky, R.59
Lowenstein, D.H.60
McGuire, S.M.61
Motika, P.V.62
Novotny, E.J.63
Ottman, R.64
Paolicchi, J.M.65
Parent, J.M.66
Park, K.67
Poduri, A.68
Scheffer, I.E.69
Shellhaas, R.A.70
Sherr, E.H.71
Shih, J.J.72
Singh, R.73
Sirven, J.74
Smith, M.C.75
Sullivan, J.76
Lin Thio, L.77
Venkat, A.78
Vining, E.P.79
Von Allmen, G.K.80
Weisenberg, J.L.81
Widdess-Walsh, P.82
Winawer, M.R.83
more..
-
72
-
-
84881587124
-
PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis
-
J. Eschbach, B. Schwalenstöcker, S.M. Soyal, H. Bayer, D. Wiesner, C. Akimoto, A.C. Nilsson, A. Birve, T. Meyer, L. Dupuis, K.M. Danzer, P.M. Andersen, A. Witting, A.C. Ludolph, W. Patsch, and P. Weydt PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis Hum. Mol. Genet. 22 17 2013 3477 3484
-
(2013)
Hum. Mol. Genet.
, vol.22
, Issue.17
, pp. 3477-3484
-
-
Eschbach, J.1
Schwalenstöcker, B.2
Soyal, S.M.3
Bayer, H.4
Wiesner, D.5
Akimoto, C.6
Nilsson, A.C.7
Birve, A.8
Meyer, T.9
Dupuis, L.10
Danzer, K.M.11
Andersen, P.M.12
Witting, A.13
Ludolph, A.C.14
Patsch, W.15
Weydt, P.16
-
73
-
-
0036724052
-
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
-
E. Eymard-Pierre, G. Lesca, S. Dollet, F.M. Santorelli, M. di Capua, E. Bertini, and O. Boespflug-Tanguy Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene Am. J. Hum. Genet. 71 3 2002 518 527
-
(2002)
Am. J. Hum. Genet.
, vol.71
, Issue.3
, pp. 518-527
-
-
Eymard-Pierre, E.1
Lesca, G.2
Dollet, S.3
Santorelli, F.M.4
Di Capua, M.5
Bertini, E.6
Boespflug-Tanguy, O.7
-
74
-
-
84889773987
-
MAPT as a predisposing gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population
-
P. Fang, W. Xu, C. Wu, M. Zhu, X. Li, and D. Hong MAPT as a predisposing gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population Neural Regen. Res 8 33 2013 3116 3123
-
(2013)
Neural Regen. Res
, vol.8
, Issue.33
, pp. 3116-3123
-
-
Fang, P.1
Xu, W.2
Wu, C.3
Zhu, M.4
Li, X.5
Hong, D.6
-
75
-
-
59149097039
-
DCTN1 mutations in Perry syndrome
-
M.J. Farrer, M.M. Hulihan, J.M. Kachergus, J.C. Dächsel, A.J. Stoessl, L.L. Grantier, S. Calne, D.B. Calne, B. Lechevalier, F. Chapon, Y. Tsuboi, T. Yamada, L. Gutmann, B. Elibol, K.P. Bhatia, C. Wider, C. Vilariño-Güell, O.A. Ross, L.A. Brown, M. Castanedes-Casey, D.W. Dickson, and Z.K. Wszolek DCTN1 mutations in Perry syndrome Nat. Genet. 41 2 2009 163 165
-
(2009)
Nat. Genet.
, vol.41
, Issue.2
, pp. 163-165
-
-
Farrer, M.J.1
Hulihan, M.M.2
Kachergus, J.M.3
Dächsel, J.C.4
Stoessl, A.J.5
Grantier, L.L.6
Calne, S.7
Calne, D.B.8
Lechevalier, B.9
Chapon, F.10
Tsuboi, Y.11
Yamada, T.12
Gutmann, L.13
Elibol, B.14
Bhatia, K.P.15
Wider, C.16
Vilariño-Güell, C.17
Ross, O.A.18
Brown, L.A.19
Castanedes-Casey, M.20
Dickson, D.W.21
Wszolek, Z.K.22
more..
-
76
-
-
80855150639
-
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis
-
F. Fecto, J. Yan, S.P. Vemula, E. Liu, Y. Yang, W. Chen, J.G. Zheng, Y. Shi, N. Siddique, H. Arrat, S. Donkervoort, S. Ajroud-Driss, RL. Sufit, S.L. Heller, H.X. Deng, and T. Siddique SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis Arch. Neurol. 68 11 2011 1440 1446
-
(2011)
Arch. Neurol.
, vol.68
, Issue.11
, pp. 1440-1446
-
-
Fecto, F.1
Yan, J.2
Vemula, S.P.3
Liu, E.4
Yang, Y.5
Chen, W.6
Zheng, J.G.7
Shi, Y.8
Siddique, N.9
Arrat, H.10
Donkervoort, S.11
Ajroud-Driss, S.12
Sufit, R.L.13
Heller, S.L.14
Deng, H.X.15
Siddique, T.16
-
77
-
-
77952570883
-
Four familial ALS pedigrees discordant for two SOD1 mutations: Are all SOD1 mutations pathogenic?
-
A. Felbecker, W. Camu, P.N. Valdmanis, A.D. Sperfeld, S. Waibel, P. Steinbach, G.A. Rouleau, A.C. Ludolph, and P.M. Andersen Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? J. Neurol. Neurosurg. Psychiatry 81 5 2010 572 577
-
(2010)
J. Neurol. Neurosurg. Psychiatry
, vol.81
, Issue.5
, pp. 572-577
-
-
Felbecker, A.1
Camu, W.2
Valdmanis, P.N.3
Sperfeld, A.D.4
Waibel, S.5
Steinbach, P.6
Rouleau, G.A.7
Ludolph, A.C.8
Andersen, P.M.9
-
78
-
-
84890059739
-
Oligonucleotide-Based Therapy for FTD/ALS Caused by the C9orf72 Repeat Expansion: A Perspective
-
S.A. Fernandes, A.G. Douglas, M.A. Varela, M.J. Wood, and Y. Aoki Oligonucleotide-Based Therapy for FTD/ALS Caused by the C9orf72 Repeat Expansion: A Perspective J. Nucleic Acids 2013 208245
-
(2013)
J. Nucleic Acids
, pp. 208245
-
-
Fernandes, S.A.1
Douglas, A.G.2
Varela, M.A.3
Wood, M.J.4
Aoki, Y.5
-
79
-
-
0028001606
-
Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
-
D.A. Figlewicz, A. Krizus, M.G. Martinoli, V. Meininger, M. Dib, G.A. Rouleau, and J.P. Julien Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis Hum. Mol. Genet. 3 10 1994 1757 1761
-
(1994)
Hum. Mol. Genet.
, vol.3
, Issue.10
, pp. 1757-1761
-
-
Figlewicz, D.A.1
Krizus, A.2
Martinoli, M.G.3
Meininger, V.4
Dib, M.5
Rouleau, G.A.6
Julien, J.P.7
-
80
-
-
85058205487
-
Evaluating noncoding nucleotide repeat expansions in amyotrophic lateral sclerosis
-
(e1-4)
-
M.D. Figley, A. Thomas, and A.D. Gitler Evaluating noncoding nucleotide repeat expansions in amyotrophic lateral sclerosis Neurobiol. Aging 35 4 2014 936 (e1-4)
-
(2014)
Neurobiol. Aging
, vol.35
, Issue.4
, pp. 936
-
-
Figley, M.D.1
Thomas, A.2
Gitler, A.D.3
-
81
-
-
84871536769
-
Identification of epigenetically altered genes in sporadic amyotrophic lateral sclerosis
-
C. Figueroa-Romero, J. Hur, D.E. Bender, C.E. Delaney, M.D. Cataldo, A.L. Smith, R. Yung, D.M. Ruden, B.C. Callaghan, and E.L. Feldman Identification of epigenetically altered genes in sporadic amyotrophic lateral sclerosis PLoS One 7 12 2012 e52672
-
(2012)
PLoS One
, vol.7
, Issue.12
, pp. e52672
-
-
Figueroa-Romero, C.1
Hur, J.2
Bender, D.E.3
Delaney, C.E.4
Cataldo, M.D.5
Smith, A.L.6
Yung, R.7
Ruden, D.M.8
Callaghan, B.C.9
Feldman, E.L.10
-
82
-
-
84897859556
-
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
-
SLAGEN Consortium and Collaborators
-
I. Fogh, A. Ratti, C. Gellera, K. Lin, C. Tiloca, V. Moskvina, L. Corrado, G. Sorarù, C. Cereda, S. Corti, D. Gentilini, D. Calini, B. Castellotti, L. Mazzini, G. Querin, S. Gagliardi, R. Del Bo, F.L. Conforti, G. Siciliano, M. Inghilleri, F. Saccà, P. Bongioanni, S. Penco, M. Corbo, S. Sorbi, M. Filosto, A. Ferlini, A.M. Di Blasio, S. Signorini, A. Shatunov, A. Jones, P.J. Shaw, K.E. Morrison, A.E. Farmer, P. Van Damme, W. Robberecht, A. Chiò, B.J. Traynor, M. Sendtner, J. Melki, V. Meininger, O. Hardiman, P.M. Andersen, N.P. Leigh, J.D. Glass, D. Overste, F.P. Diekstra, J.H. Veldink, M.A. van Es, C.E. Shaw, M.E. Weale, C.M. Lewis, J. Williams, R.H. Brown, J.E. Landers, N. Ticozzi, M. Ceroni, E. Pegoraro, G.P. Comi, S. D'Alfonso, L.H. van den Berg, F. Taroni, A. Al-Chalabi, J. Powell, V. Silani, and the SLAGEN Consortium and Collaborators A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis Hum. Mol. Genet. 23 8 2014 2220 2231
-
(2014)
Hum. Mol. Genet.
, vol.23
, Issue.8
, pp. 2220-2231
-
-
Fogh, I.1
Ratti, A.2
Gellera, C.3
Lin, K.4
Tiloca, C.5
Moskvina, V.6
Corrado, L.7
Sorarù, G.8
Cereda, C.9
Corti, S.10
Gentilini, D.11
Calini, D.12
Castellotti, B.13
Mazzini, L.14
Querin, G.15
Gagliardi, S.16
Del Bo, R.17
Conforti, F.L.18
Siciliano, G.19
Inghilleri, M.20
Saccà, F.21
Bongioanni, P.22
Penco, S.23
Corbo, M.24
Sorbi, S.25
Filosto, M.26
Ferlini, A.27
Di Blasio, A.M.28
Signorini, S.29
Shatunov, A.30
Jones, A.31
Shaw, P.J.32
Morrison, K.E.33
Farmer, A.E.34
Van Damme, P.35
Robberecht, W.36
Chiò, A.37
Traynor, B.J.38
Sendtner, M.39
Melki, J.40
Meininger, V.41
Hardiman, O.42
Andersen, P.M.43
Leigh, N.P.44
Glass, J.D.45
Overste, D.46
Diekstra, F.P.47
Veldink, J.H.48
Van Es, M.A.49
Shaw, C.E.50
Weale, M.E.51
Lewis, C.M.52
Williams, J.53
Brown, R.H.54
Landers, J.E.55
Ticozzi, N.56
Ceroni, M.57
Pegoraro, E.58
Comi, G.P.59
D'Alfonso, S.60
Van Den Berg, L.H.61
Taroni, F.62
Al-Chalabi, A.63
Powell, J.64
Silani, V.65
more..
-
83
-
-
79956311051
-
A seeding reaction recapitulates intracellular formation of Sarkosyl-insoluble transactivation response element (TAR) DNA-binding protein-43 inclusions
-
Y. Furukawa, K. Kaneko, S. Watanabe, K. Yamanaka, and N. Nukina A seeding reaction recapitulates intracellular formation of Sarkosyl-insoluble transactivation response element (TAR) DNA-binding protein-43 inclusions J. Biol. Chem. 286 2011 18664 18672
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 18664-18672
-
-
Furukawa, Y.1
Kaneko, K.2
Watanabe, S.3
Yamanaka, K.4
Nukina, N.5
-
84
-
-
84859916597
-
Disease gene identification strategies for exome sequencing
-
C. Gilissen, A. Hoischen, H.G. Brunner, and J.A. Veltman Disease gene identification strategies for exome sequencing Eur. J. Hum. Genet. 20 5 2012 490 497
-
(2012)
Eur. J. Hum. Genet.
, vol.20
, Issue.5
, pp. 490-497
-
-
Gilissen, C.1
Hoischen, A.2
Brunner, H.G.3
Veltman, J.A.4
-
85
-
-
41949119043
-
TDP-43 A315T mutation in familial motor neuron disease
-
M.A. Gitcho, R.H. Baloh, S. Chakraverty, K. Mayo, J.B. Norton, D. Levitch, K,J. Hatanpaa, C.L. White III, E,H. Bigio, R. Caselli, M. Baker, M.T. Al-Lozi, J.C. Morris, A. Pestronk, R. Rademakers, A.M. Goate, and N.J. Cairns TDP-43 A315T mutation in familial motor neuron disease Ann. Neurol. 63 4 2008 535 538
-
(2008)
Ann. Neurol.
, vol.63
, Issue.4
, pp. 535-538
-
-
Gitcho, M.A.1
Baloh, R.H.2
Chakraverty, S.3
Mayo, K.4
Norton, J.B.5
Levitch, D.6
Hatanpaa, K.J.7
White, C.L.8
Bigio, E.H.9
Caselli, R.10
Baker, M.11
Al-Lozi, M.T.12
Morris, J.C.13
Pestronk, A.14
Rademakers, R.15
Goate, A.M.16
Cairns, N.J.17
-
86
-
-
25444501340
-
Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS
-
E.F. Goodall, M.J. Greenway, I. van Marion, C.B. Carroll, O. Hardiman, and K.E. Morrison Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS Neurology 65 6 2005 934 937
-
(2005)
Neurology
, vol.65
, Issue.6
, pp. 934-937
-
-
Goodall, E.F.1
Greenway, M.J.2
Van Marion, I.3
Carroll, C.B.4
Hardiman, O.5
Morrison, K.E.6
-
87
-
-
80053652133
-
Intermolecular transmission of superoxide dismutase 1 misfolding in living cells
-
L.I. Grad, W.C. Guest, A. Yanai, E. Pokrishevsky, M.A. O'Neill, E. Gibbs, V. Semenchenko, M. Yousefi, D.S. Wishart, S.S. Plotkin, and N.R. Cashman Intermolecular transmission of superoxide dismutase 1 misfolding in living cells Proc. Natl. Acad. Sci. U.S.A 108 2011 16398 16403
-
(2011)
Proc. Natl. Acad. Sci. U.S.A
, vol.108
, pp. 16398-16403
-
-
Grad, L.I.1
Guest, W.C.2
Yanai, A.3
Pokrishevsky, E.4
O'Neill, M.A.5
Gibbs, E.6
Semenchenko, V.7
Yousefi, M.8
Wishart, D.S.9
Plotkin, S.S.10
Cashman, N.R.11
-
88
-
-
84874634237
-
Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease
-
J. Gratten, P.M. Visscher, B.J. Mowry, and N.R. Wray Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease Nat. Genet. 45 3 2013 234 238
-
(2013)
Nat. Genet.
, vol.45
, Issue.3
, pp. 234-238
-
-
Gratten, J.1
Visscher, P.M.2
Mowry, B.J.3
Wray, N.R.4
-
89
-
-
8844263662
-
A novel candidate region for ALS on chromosome 14q11.2
-
M.J. Greenway, M.D. Alexander, S. Ennis, B.J. Traynor, B. Corr, E. Frost, A. Green, and O. Hardiman A novel candidate region for ALS on chromosome 14q11.2 Neurology 6310 2004 1936 1938
-
(2004)
Neurology
, vol.6310
, pp. 1936-1938
-
-
Greenway, M.J.1
Alexander, M.D.2
Ennis, S.3
Traynor, B.J.4
Corr, B.5
Frost, E.6
Green, A.7
Hardiman, O.8
-
90
-
-
33645422711
-
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
-
M.J. Greenway, P.M. Andersen, C. Russ, S. Ennis, S. Cashman, C. Donaghy, V. Patterson, R. Swingler, D. Kieran, J. Prehn, K.E. Morrison, A. Green, K.R. Acharya, R.H. Brown Jr., and O. Hardiman ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis Nat. Genet. 38 4 2006 411 413
-
(2006)
Nat. Genet.
, vol.38
, Issue.4
, pp. 411-413
-
-
Greenway, M.J.1
Andersen, P.M.2
Russ, C.3
Ennis, S.4
Cashman, S.5
Donaghy, C.6
Patterson, V.7
Swingler, R.8
Kieran, D.9
Prehn, J.10
Morrison, K.E.11
Green, A.12
Acharya, K.R.13
Brown, Jr.R.H.14
Hardiman, O.15
-
91
-
-
84861891366
-
CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis
-
(e1-3)
-
E.J. Groen, W. van Rheenen, M. Koppers, P.T. van Doormaal, L. Vlam, F.P. Diekstra, D. Dooijes, R.J. Pasterkamp, L.H. van den Berg, and J.H. Veldink CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis Neurobiol. Aging 33 8 2012 1852 (e1-3)
-
(2012)
Neurobiol. Aging
, vol.33
, Issue.8
, pp. 1852
-
-
Groen, E.J.1
Van Rheenen, W.2
Koppers, M.3
Van Doormaal, P.T.4
Vlam, L.5
Diekstra, F.P.6
Dooijes, D.7
Pasterkamp, R.J.8
Van Den Berg, L.H.9
Veldink, J.H.10
-
92
-
-
8544222694
-
A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis
-
F. Gros-Louis, R. Larivière, G. Gowing, S. Laurent, W. Camu, J.P. Bouchard, V. Meininger, G.A. Rouleau, and J.P. Julien A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis J. Biol. Chem. 279 44 2004 45951 45956
-
(2004)
J. Biol. Chem.
, vol.279
, Issue.44
, pp. 45951-45956
-
-
Gros-Louis, F.1
Larivière, R.2
Gowing, G.3
Laurent, S.4
Camu, W.5
Bouchard, J.P.6
Meininger, V.7
Rouleau, G.A.8
Julien, J.P.9
-
93
-
-
76049085112
-
Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis
-
F. Gros-Louis, P.M. Andersen, N. Dupre, M. Urushitani, P. Dion, F. Souchon, M. D'Amour, W. Camu, V. Meininger, J.P. Bouchard, G.A. Rouleau, and J.P. Julien Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis Proc. Natl. Acad. Sci. U.S.A 106 51 2009 21777 21782
-
(2009)
Proc. Natl. Acad. Sci. U.S.A
, vol.106
, Issue.51
, pp. 21777-21782
-
-
Gros-Louis, F.1
Andersen, P.M.2
Dupre, N.3
Urushitani, M.4
Dion, P.5
Souchon, F.6
D'Amour, M.7
Camu, W.8
Meininger, V.9
Bouchard, J.P.10
Rouleau, G.A.11
Julien, J.P.12
-
94
-
-
84856239588
-
Amplification of siRNA in Caenorhabditis elegans generates a transgenerational sequence-targeted histone H3 lysine 9 methylation footprint
-
S.G. Gu, J. Pak, S. Guang, J.M. Maniar, S. Kennedy, and A. Fire Amplification of siRNA in Caenorhabditis elegans generates a transgenerational sequence-targeted histone H3 lysine 9 methylation footprint Nat. Genet. 44 2 2012 157 164
-
(2012)
Nat. Genet.
, vol.44
, Issue.2
, pp. 157-164
-
-
Gu, S.G.1
Pak, J.2
Guang, S.3
Maniar, J.M.4
Kennedy, S.5
Fire, A.6
-
95
-
-
0034785483
-
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
-
S. Hadano, C.K. Hand, H. Osuga, Y. Yanagisawa, A. Otomo, R.S. Devon, N. Miyamoto, J. Showguchi-Miyata, Y. Okada, R. Singaraja, D.A. Figlewicz, T. Kwiatkowski, B.A. Hosler, T. Sagie, J. Skaug, J. Nasir, R.H. Brown Jr., S.W. Scherer, G.A. Rouleau, M.R. Hayden, and J.E. Ikeda A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 Nat. Genet. 29 2 2001 166 173
-
(2001)
Nat. Genet.
, vol.29
, Issue.2
, pp. 166-173
-
-
Hadano, S.1
Hand, C.K.2
Osuga, H.3
Yanagisawa, Y.4
Otomo, A.5
Devon, R.S.6
Miyamoto, N.7
Showguchi-Miyata, J.8
Okada, Y.9
Singaraja, R.10
Figlewicz, D.A.11
Kwiatkowski, T.12
Hosler, B.A.13
Sagie, T.14
Skaug, J.15
Nasir, J.16
Brown, Jr.R.H.17
Scherer, S.W.18
Rouleau, G.A.19
Hayden, M.R.20
Ikeda, J.E.21
more..
-
96
-
-
18244393223
-
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q
-
C.K. Hand, J. Khoris, F. Salachas, F. Gros-Louis, A.A. Lopes, V. Mayeux-Portas, C.G. Brewer, R.H. Brown Jr., V. Meininger, W. Camu, and G.A. Rouleau A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q Am. J. Hum. Genet. 70 1 2002 251 256
-
(2002)
Am. J. Hum. Genet.
, vol.70
, Issue.1
, pp. 251-256
-
-
Hand, C.K.1
Khoris, J.2
Salachas, F.3
Gros-Louis, F.4
Lopes, A.A.5
Mayeux-Portas, V.6
Brewer, C.G.7
Brown, Jr.R.H.8
Meininger, V.9
Camu, W.10
Rouleau, G.A.11
-
97
-
-
0034605478
-
Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
-
B.A Hosler, T. Siddique, P.C. Sapp, W. Sailor, M.C. Huang, A. Hossain, J.R. Daube, M. Nance, C. Fan, J. Kaplan, W.Y. Hung, D. McKenna-Yasek, J.L. Haines, M.A. Pericak-Vance, H.R. Horvitz, and R.H. Brown Jr. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22 JAMA 284 13 2000 1664 1669
-
(2000)
JAMA
, vol.284
, Issue.13
, pp. 1664-1669
-
-
Hosler, B.A.1
Siddique, T.2
Sapp, P.C.3
Sailor, W.4
Huang, M.C.5
Hossain, A.6
Daube, J.R.7
Nance, M.8
Fan, C.9
Kaplan, J.10
Hung, W.Y.11
McKenna-Yasek, D.12
Haines, J.L.13
Pericak-Vance, M.A.14
Horvitz, H.R.15
Brown, Jr.R.H.16
-
98
-
-
80052253329
-
A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese
-
A. Iida, A. Takahashi, M. Kubo, S. Saito, N. Hosono, Y. Ohnishi, K. Kiyotani, T. Mushiroda, M. Nakajima, K. Ozaki, T. Tanaka, T. Tsunoda, S. Oshima, M. Sano, T. Kamei, T. Tokuda, M. Aoki, K. Hasegawa, K. Mizoguchi, M. Morita, Y. Takahashi, M. Katsuno, N. Atsuta, H. Watanabe, F. Tanaka, R. Kaji, I. Nakano, N. Kamatani, S. Tsuji, G. Sobue, Y. Nakamura, and S. Ikegawa A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese Hum. Mol. Genet. 20 18 2011 3684 3692
-
(2011)
Hum. Mol. Genet.
, vol.20
, Issue.18
, pp. 3684-3692
-
-
Iida, A.1
Takahashi, A.2
Kubo, M.3
Saito, S.4
Hosono, N.5
Ohnishi, Y.6
Kiyotani, K.7
Mushiroda, T.8
Nakajima, M.9
Ozaki, K.10
Tanaka, T.11
Tsunoda, T.12
Oshima, S.13
Sano, M.14
Kamei, T.15
Tokuda, T.16
Aoki, M.17
Hasegawa, K.18
Mizoguchi, K.19
Morita, M.20
Takahashi, Y.21
Katsuno, M.22
Atsuta, N.23
Watanabe, H.24
Tanaka, F.25
Kaji, R.26
Nakano, I.27
Kamatani, N.28
Tsuji, S.29
Sobue, G.30
Nakamura, Y.31
Ikegawa, S.32
more..
-
99
-
-
84920873336
-
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
-
J.O. Johnson, S.M. Glynn, J.R. Gibbs, M.A. Nalls, M. Sabatelli, G. Restagno, V.E. Drory, A. Chio, E. Rogaeva, and B.J. Traynor Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis Brain, 2014 10.1093/brain/awu265
-
(2014)
Brain
-
-
Johnson, J.O.1
Glynn, S.M.2
Gibbs, J.R.3
Nalls, M.A.4
Sabatelli, M.5
Restagno, G.6
Drory, V.E.7
Chio, A.8
Rogaeva, E.9
Traynor, B.J.10
-
100
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
J.O. Johnson, J. Mandrioli, M. Benatar, Y. Abramzon, V.M. Van Deerlin, J.Q. Trojanowski, J.R. Gibbs, M. Brunetti, S. Gronka, J. Wuu, J. Ding, L. McCluskey, M. Martinez-Lage, D. Falcone, D.G. Hernandez, S. Arepalli, S. Chong, JC. Schymick, J. Rothstein, F. Landi, Y.D. Wang, A. Calvo, G. Mora, M. Sabatelli, M.R. Monsurrò, S. Battistini, F. Salvi, R. Spataro, P. Sola, G. Borghero, ITALSGEN Consortium, G. Galassi, S.W. Scholz, J.P. Taylor, G. Restagno, A. Chiò, and B.J. Traynor Exome sequencing reveals VCP mutations as a cause of familial ALS Neuron 68 5 2010 857 864
-
(2010)
Neuron
, vol.68
, Issue.5
, pp. 857-864
-
-
Johnson, J.O.1
Mandrioli, J.2
Benatar, M.3
Abramzon, Y.4
Van Deerlin, V.M.5
Trojanowski, J.Q.6
Gibbs, J.R.7
Brunetti, M.8
Gronka, S.9
Wuu, J.10
Ding, J.11
McCluskey, L.12
Martinez-Lage, M.13
Falcone, D.14
Hernandez, D.G.15
Arepalli, S.16
Chong, S.17
Schymick, J.C.18
Rothstein, J.19
Landi, F.20
Wang, Y.D.21
Calvo, A.22
Mora, G.23
Sabatelli, M.24
Monsurrò, M.R.25
Battistini, S.26
Salvi, F.27
Spataro, R.28
Sola, P.29
Borghero, G.30
Consortium, I.31
Galassi, G.32
Scholz, S.W.33
Taylor, J.P.34
Restagno, G.35
Chiò, A.36
Traynor, B.J.37
more..
-
101
-
-
84899644069
-
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
-
J.O. Johnson, E.P. Pioro, A. Boehringer, R. Chia, H. Feit, A.E. Renton, H.A. Pliner, Y. Abramzon, G. Marangi, B.J. Winborn, J.R. Gibbs, M.A. Nalls, S. Morgan, M. Shoai, J. Hardy, A. Pittman, R.W. Orrell, A. Malaspina, K.C. Sidle, P. Fratta, M.B. Harms, R.H. Baloh, A. Pestronk, C.C. Weihl, E. Rogaeva, L. Zinman, V.E. Drory, G. Borghero, G. Mora, A. Calvo, J.D. Rothstein, ITALSGEN, C. Drepper, M. Sendtner, A.B. Singleton, J.P. Taylor, M.R. Cookson, G. Restagno, M. Sabatelli, R. Bowser, A. Chiò, and B.J. Traynor Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis Nat. Neurosci. 17 5 2014 664 666
-
(2014)
Nat. Neurosci.
, vol.17
, Issue.5
, pp. 664-666
-
-
Johnson, J.O.1
Pioro, E.P.2
Boehringer, A.3
Chia, R.4
Feit, H.5
Renton, A.E.6
Pliner, H.A.7
Abramzon, Y.8
Marangi, G.9
Winborn, B.J.10
Gibbs, J.R.11
Nalls, M.A.12
Morgan, S.13
Shoai, M.14
Hardy, J.15
Pittman, A.16
Orrell, R.W.17
Malaspina, A.18
Sidle, K.C.19
Fratta, P.20
Harms, M.B.21
Baloh, R.H.22
Pestronk, A.23
Weihl, C.C.24
Rogaeva, E.25
Zinman, L.26
Drory, V.E.27
Borghero, G.28
Mora, G.29
Calvo, A.30
Rothstein, J.D.31
Italsgen32
Drepper, C.33
Sendtner, M.34
Singleton, A.B.35
Taylor, J.P.36
Cookson, M.R.37
Restagno, G.38
Sabatelli, M.39
Bowser, R.40
Chiò, A.41
Traynor, B.J.42
more..
-
102
-
-
42649120983
-
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
-
E. Kabashi, P.N. Valdmanis, P. Dion, D. Spiegelman, B.J. McConkey, C. Vande Velde, J.P. Bouchard, L. Lacomblez, K. Pochigaeva, F. Salachas, P.F. Pradat, W. Camu, V. Meininger, N. Dupre, and G.A. Rouleau TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis Nat. Genet. 40 5 2008 572 574
-
(2008)
Nat. Genet.
, vol.40
, Issue.5
, pp. 572-574
-
-
Kabashi, E.1
Valdmanis, P.N.2
Dion, P.3
Spiegelman, D.4
McConkey, B.J.5
Vande Velde, C.6
Bouchard, J.P.7
Lacomblez, L.8
Pochigaeva, K.9
Salachas, F.10
Pradat, P.F.11
Camu, W.12
Meininger, V.13
Dupre, N.14
Rouleau, G.A.15
-
103
-
-
84907562357
-
Heritability in ALS: Meta-analysis identifies highly heritable regions associated with risk of ALS
-
M.F. Keller, L. Ferrucci, A.B. Singleton, P.J. Tienari, H. Laaksovirta, G. Restagno, A. Chiò, B.J Traynor, and M.A. Nall Heritability in ALS: meta-analysis identifies highly heritable regions associated with risk of ALS JAMA Neurol. 71 9 2014 1123 1134
-
(2014)
JAMA Neurol.
, vol.71
, Issue.9
, pp. 1123-1134
-
-
Keller, M.F.1
Ferrucci, L.2
Singleton, A.B.3
Tienari, P.J.4
Laaksovirta, H.5
Restagno, G.6
Chiò, A.7
Traynor, B.J.8
Nall, M.A.9
-
104
-
-
84875605133
-
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
-
H.J. Kim, N.C. Kim, Y.D. Wang, E.A. Scarborough, J. Moore, Z. Diaz, K.S. MacLea, B. Freibaum, S. Li, A. Molliex, AP. Kanagaraj, R. Carter, K.B. Boylan, A.M. Wojtas, R. Rademakers, J.L. Pinkus, S.A. Greenberg, J.Q. Trojanowski, B.J. Traynor, B.N. Smith, S. Topp, A.S. Gkazi, J. Miller, C.E. Shaw, M. Kottlors, J. Kirschner, A. Pestronk, Y.R. Li, A.F. Ford, A.D. Gitler, M. Benatar, O.D. King, V.E. Kimonis, E.D. Ross, C.C. Weihl, J. Shorter, and J.P. Taylor Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS Nature 495 7442 2013 467 473
-
(2013)
Nature
, vol.495
, Issue.7442
, pp. 467-473
-
-
Kim, H.J.1
Kim, N.C.2
Wang, Y.D.3
Scarborough, E.A.4
Moore, J.5
Diaz, Z.6
MacLea, K.S.7
Freibaum, B.8
Li, S.9
Molliex, A.10
Kanagaraj, A.P.11
Carter, R.12
Boylan, K.B.13
Wojtas, A.M.14
Rademakers, R.15
Pinkus, J.L.16
Greenberg, S.A.17
Trojanowski, J.Q.18
Traynor, B.J.19
Smith, B.N.20
Topp, S.21
Gkazi, A.S.22
Miller, J.23
Shaw, C.E.24
Kottlors, M.25
Kirschner, J.26
Pestronk, A.27
Li, Y.R.28
Ford, A.F.29
Gitler, A.D.30
Benatar, M.31
King, O.D.32
Kimonis, V.E.33
Ross, E.D.34
Weihl, C.C.35
Shorter, J.36
Taylor, J.P.37
more..
-
105
-
-
84856958110
-
VCP mutations in familial and sporadic amyotrophic lateral sclerosis
-
(837)
-
M. Koppers, M.M. van Blitterswijk, L. Vlam, P.A. Rowicka, P.W. van Vught, E.J. Groen, W.G. Spliet, J. Engelen-Lee, H.J. Schelhaas, M. de Visser, A.J. van der Kooi, W.L. van der Pol, R.J. Pasterkamp, J.H. Veldink, and L.H. van den Berg VCP mutations in familial and sporadic amyotrophic lateral sclerosis Neurobiol. Aging 33 4 2012 e7 13 (837)
-
(2012)
Neurobiol. Aging
, vol.33
, Issue.4
, pp. e7-13
-
-
Koppers, M.1
Van Blitterswijk, M.M.2
Vlam, L.3
Rowicka, P.A.4
Van Vught, P.W.5
Groen, E.J.6
Spliet, W.G.7
Engelen-Lee, J.8
Schelhaas, H.J.9
De Visser, M.10
Van Der Kooi, A.J.11
Van Der Pol, W.L.12
Pasterkamp, R.J.13
Veldink, J.H.14
Van Den Berg, L.H.15
-
106
-
-
0001061176
-
Epidemiologic investigations of amyotrophic lateral sclerosis. 2. Familial aggregations indicative of dominant inheritance II
-
L.T. Kurland, and D.W. Mulder Epidemiologic investigations of amyotrophic lateral sclerosis. 2. Familial aggregations indicative of dominant inheritance II Neurology 5 1955 249 268
-
(1955)
Neurology
, vol.5
, pp. 249-268
-
-
Kurland, L.T.1
Mulder, D.W.2
-
108
-
-
84859015231
-
A high-density genome-wide association screen of sporadic ALS in US veterans
-
e32768 2012
-
L.C. Kwee, Y. Liu, C. Haynes, J.R. Gibson, A. Stone, S.A. Schichman, F. Kamel, L.M. Nelson, B. Topol, S.K. Van den Eeden, C.M. Tanner, M.E. Cudkowicz, D.L. Grasso, R. Lawson, S. Muralidhar, E.Z. Oddone, S. Schmidt, and M.A. Hauser A high-density genome-wide association screen of sporadic ALS in US veterans PLoS One 7 3 2012 e32768 2012
-
(2012)
PLoS One
, vol.7
, Issue.3
-
-
Kwee, L.C.1
Liu, Y.2
Haynes, C.3
Gibson, J.R.4
Stone, A.5
Schichman, S.A.6
Kamel, F.7
Nelson, L.M.8
Topol, B.9
Van Den Eeden, S.K.10
Tanner, C.M.11
Cudkowicz, M.E.12
Grasso, D.L.13
Lawson, R.14
Muralidhar, S.15
Oddone, E.Z.16
Schmidt, S.17
Hauser, M.A.18
-
109
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
T.J. Kwiatkowski Jr., D.A. Bosco, A.L. Leclerc, E. Tamrazian, C.R. Vanderburg, C. Russ, A. Davis, J. Gilchrist, E.J. Kasarskis, T. Munsat, P. Valdmanis, G.A. Rouleau, B.A. Hosler, P. Cortelli, P.J. de Jong, Y. Yoshinaga, J.L. Haines, M.A. Pericak-Vance, J. Yan, N. Ticozzi, T. Siddique, D. McKenna-Yasek, P.C. Sapp, H.R. Horvitz, J.E. Landers, and R.H. Brown Jr. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis Science 323 5918 2009 1205 1208
-
(2009)
Science
, vol.323
, Issue.5918
, pp. 1205-1208
-
-
Kwiatkowski, Jr.T.J.1
Bosco, D.A.2
Leclerc, A.L.3
Tamrazian, E.4
Vanderburg, C.R.5
Russ, C.6
Davis, A.7
Gilchrist, J.8
Kasarskis, E.J.9
Munsat, T.10
Valdmanis, P.11
Rouleau, G.A.12
Hosler, B.A.13
Cortelli, P.14
De Jong, P.J.15
Yoshinaga, Y.16
Haines, J.L.17
Pericak-Vance, M.A.18
Yan, J.19
Ticozzi, N.20
Siddique, T.21
McKenna-Yasek, D.22
Sapp, P.C.23
Horvitz, H.R.24
Landers, J.E.25
Brown, Jr.R.H.26
more..
-
110
-
-
84896545244
-
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: Prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB
-
C.T. Kwok, A. Morris, and J.S. de Belleroche Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB Eur. J. Hum. Genet. 22 4 2014 492 496
-
(2014)
Eur. J. Hum. Genet.
, vol.22
, Issue.4
, pp. 492-496
-
-
Kwok, C.T.1
Morris, A.2
De Belleroche, J.S.3
-
111
-
-
84862794799
-
Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS
-
(e17-23)
-
M.J. Kwon, W. Baek, C.S. Ki, H.Y. Kim, S.H. Koh, J.W. Kim, and S.H. Kim Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS Neurobiol. Aging 33 5 2012 1017 (e17-23)
-
(2012)
Neurobiol. Aging
, vol.33
, Issue.5
, pp. 1017
-
-
Kwon, M.J.1
Baek, W.2
Ki, C.S.3
Kim, H.Y.4
Koh, S.H.5
Kim, J.W.6
Kim, S.H.7
-
112
-
-
77956876046
-
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: A genome-wide association study
-
H. Laaksovirta, T. Peuralinna, J.C. Schymick, S.W. Scholz, S.L. Lai, L. Myllykangas, R. Sulkava, L. Jansson, D.G. Hernandez, J.R. Gibbs, M.A. Nalls, D. Heckerman, P.J. Tienari, and B.J. Traynor Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study Lancet Neurol. 9 10 2010 978 985
-
(2010)
Lancet Neurol.
, vol.9
, Issue.10
, pp. 978-985
-
-
Laaksovirta, H.1
Peuralinna, T.2
Schymick, J.C.3
Scholz, S.W.4
Lai, S.L.5
Myllykangas, L.6
Sulkava, R.7
Jansson, L.8
Hernandez, D.G.9
Gibbs, J.R.10
Nalls, M.A.11
Heckerman, D.12
Tienari, P.J.13
Traynor, B.J.14
-
113
-
-
72749106555
-
Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: Increased susceptibility in male carriers of the -2578AA genotype
-
D. Lambrechts, K. Poesen, R. Fernández-Santiago, A. Al-Chalabi, R. Del Bo, PW. Van Vught, S. Khan, S.L. Marklund, A. Brockington, I. van Marion, J. Anneser, C. Shaw, A.C. Ludolph, N.P. Leigh, G.P. Comi, T. Gasser, P.J. Shaw, K.E. Morrison, P.M. Andersen, L.H. Van den Berg, V. Thijs, T. Siddique, W. Robberecht, and P. Carmeliet Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype J. Med. Genet. 46 12 2009 840 846
-
(2009)
J. Med. Genet.
, vol.46
, Issue.12
, pp. 840-846
-
-
Lambrechts, D.1
Poesen, K.2
Fernández-Santiago, R.3
Al-Chalabi, A.4
Del Bo, R.5
Van Vught, P.W.6
Khan, S.7
Marklund, S.L.8
Brockington, A.9
Van Marion, I.10
Anneser, J.11
Shaw, C.12
Ludolph, A.C.13
Leigh, N.P.14
Comi, G.P.15
Gasser, T.16
Shaw, P.J.17
Morrison, K.E.18
Andersen, P.M.19
Van Den Berg, L.H.20
Thijs, V.21
Siddique, T.22
Robberecht, W.23
Carmeliet, P.24
more..
-
114
-
-
67049155508
-
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis
-
J.E. Landers, J. Melki, V. Meininger, J.D. Glass, L.H. van den Berg, M.A. van Es, P.C. Sapp, P.W. van Vught, D.M. McKenna-Yasek, H.M. Blauw, T.J. Cho, M. Polak, L. Shi, A.M. Wills, W.J. Broom, N. Ticozzi, V. Silani, A. Ozoguz, I. Rodriguez-Leyva, J.H. Veldink, A.J. Ivinson, C.G. Saris, B.A. Hosler, A. Barnes-Nessa, N. Couture, J.H. Wokke, T.J. Kwiatkowski Jr., R.A. Ophoff, S. Cronin, O. Hardiman, F.P. Diekstra, P.N. Leigh, C.E. Shaw, C.L. Simpson, V.K. Hansen, J.F. Powell, P. Corcia, F. Salachas, S. Heath, P. Galan, F. Georges, H.R. Horvitz, M. Lathrop, S. Purcell, A. Al-Chalabi, and R.H. Brown Jr. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis Proc. Natl. Acad. Sci. U.S.A 106 22 2009 9004 9009
-
(2009)
Proc. Natl. Acad. Sci. U.S.A
, vol.106
, Issue.22
, pp. 9004-9009
-
-
Landers, J.E.1
Melki, J.2
Meininger, V.3
Glass, J.D.4
Van Den Berg, L.H.5
Van Es, M.A.6
Sapp, P.C.7
Van Vught, P.W.8
McKenna-Yasek, D.M.9
Blauw, H.M.10
Cho, T.J.11
Polak, M.12
Shi, L.13
Wills, A.M.14
Broom, W.J.15
Ticozzi, N.16
Silani, V.17
Ozoguz, A.18
Rodriguez-Leyva, I.19
Veldink, J.H.20
Ivinson, A.J.21
Saris, C.G.22
Hosler, B.A.23
Barnes-Nessa, A.24
Couture, N.25
Wokke, J.H.26
Kwiatkowski, Jr.T.J.27
Ophoff, R.A.28
Cronin, S.29
Hardiman, O.30
Diekstra, F.P.31
Leigh, P.N.32
Shaw, C.E.33
Simpson, C.L.34
Hansen, V.K.35
Powell, J.F.36
Corcia, P.37
Salachas, F.38
Heath, S.39
Galan, P.40
Georges, F.41
Horvitz, H.R.42
Lathrop, M.43
Purcell, S.44
Al-Chalabi, A.45
Brown, Jr.R.H.46
more..
-
115
-
-
84863602161
-
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease
-
S. Lattante, A. Conte, M. Zollino, M. Luigetti, A. Del Grande, G. Marangi, A. Romano, A. Marcaccio, E. Meleo, G. Bisogni, P.M. Rossini, and M. Sabatelli Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease Neurology 79 1 2012 66 72
-
(2012)
Neurology
, vol.79
, Issue.1
, pp. 66-72
-
-
Lattante, S.1
Conte, A.2
Zollino, M.3
Luigetti, M.4
Del Grande, A.5
Marangi, G.6
Romano, A.7
Marcaccio, A.8
Meleo, E.9
Bisogni, G.10
Rossini, P.M.11
Sabatelli, M.12
-
116
-
-
84878131682
-
TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: Summary and update
-
S. Lattante, G.A. Rouleau, and E. Kabashi TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update Hum. Mutat. 34 6 2013 812 826
-
(2013)
Hum. Mutat.
, vol.34
, Issue.6
, pp. 812-826
-
-
Lattante, S.1
Rouleau, G.A.2
Kabashi, E.3
-
117
-
-
67049135828
-
Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease
-
French Research Network on FTD/FTD-MND
-
I. Le Ber, A. Camuzat, E. Berger, D. Hannequin, A. Laquerrière, V. Golfier, D. Seilhean, G. Viennet, P. Couratier, P. Verpillat, S. Heath, W. Camu, O. Martinaud, L. Lacomblez, M. Vercelletto, F. Salachas, F. Sellal, M. Didic, C. Thomas-Anterion, M. Puel, BF. Michel, C. Besse, C. Duyckaerts, V. Meininger, D. Campion, B. Dubois, A. Brice, and French Research Network on FTD/FTD-MND Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease Neurology 72 19 2009 1669 1676
-
(2009)
Neurology
, vol.72
, Issue.19
, pp. 1669-1676
-
-
Le Ber, I.1
Camuzat, A.2
Berger, E.3
Hannequin, D.4
Laquerrière, A.5
Golfier, V.6
Seilhean, D.7
Viennet, G.8
Couratier, P.9
Verpillat, P.10
Heath, S.11
Camu, W.12
Martinaud, O.13
Lacomblez, L.14
Vercelletto, M.15
Salachas, F.16
Sellal, F.17
Didic, M.18
Thomas-Anterion, C.19
Puel, M.20
Michel, B.F.21
Besse, C.22
Duyckaerts, C.23
Meininger, V.24
Campion, D.25
Dubois, B.26
Brice, A.27
more..
-
118
-
-
84255184836
-
Homozygous SMN2 deletion is a major risk factor among twenty-five Korean sporadic amyotrophic lateral sclerosis patients
-
J.B. Lee, K.A. Lee, J.M. Hong, G.I. Suh, and Y.C. Choi Homozygous SMN2 deletion is a major risk factor among twenty-five Korean sporadic amyotrophic lateral sclerosis patients Yonsei Med. J. 53 1 2012 53 57
-
(2012)
Yonsei Med. J.
, vol.53
, Issue.1
, pp. 53-57
-
-
Lee, J.B.1
Lee, K.A.2
Hong, J.M.3
Suh, G.I.4
Choi, Y.C.5
-
119
-
-
84864402732
-
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
-
J.H. Lee, M. Huynh, J.L. Silhavy, S. Kim, T. Dixon-Salazar, A. Heiberg, E. Scott, V. Bafna, K.J. Hill, A. Collazo, V. Funari, C. Russ, S.B. Gabriel, G.W. Mathern, and J.G. Gleeson De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly Nat. Genet. 44 8 2012 941 945
-
(2012)
Nat. Genet.
, vol.44
, Issue.8
, pp. 941-945
-
-
Lee, J.H.1
Huynh, M.2
Silhavy, J.L.3
Kim, S.4
Dixon-Salazar, T.5
Heiberg, A.6
Scott, E.7
Bafna, V.8
Hill, K.J.9
Collazo, A.10
Funari, V.11
Russ, C.12
Gabriel, S.B.13
Mathern, G.W.14
Gleeson, J.G.15
-
120
-
-
4143140690
-
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis
-
C.L. Leung, C.Z. He, P. Kaufmann, S.S. Chin, A. Naini, R.K. Liem, H. Mitsumoto, and A.P. Hays A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis Brain Pathol. 14 3 2004 290 296
-
(2004)
Brain Pathol.
, vol.14
, Issue.3
, pp. 290-296
-
-
Leung, C.L.1
He, C.Z.2
Kaufmann, P.3
Chin, S.S.4
Naini, A.5
Liem, R.K.6
Mitsumoto, H.7
Hays, A.P.8
-
121
-
-
84898860132
-
Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: A meta-analysis of observational studies
-
M. Li, L. Wang, W. Wang, X.L. Qi, and Z.Y. Tang Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies Braz. J. Med. Biol. Res. 47 3 2014 215 222
-
(2014)
Braz. J. Med. Biol. Res.
, vol.47
, Issue.3
, pp. 215-222
-
-
Li, M.1
Wang, L.2
Wang, W.3
Qi, X.L.4
Tang, Z.Y.5
-
122
-
-
84878930835
-
ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis
-
(e5-8)
-
X. Liu, M. Lu, L. Tang, N. Zhang, D. Chui, and D. Fan ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis Neurobiol. Aging 34 9 2013 2236 (e5-8)
-
(2013)
Neurobiol. Aging
, vol.34
, Issue.9
, pp. 2236
-
-
Liu, X.1
Lu, M.2
Tang, L.3
Zhang, N.4
Chui, D.5
Fan, D.6
-
123
-
-
84900538318
-
CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis
-
A. Lopez-Lopez, J. Gamez, E. Syriani, M. Morales, M. Salvado, M.J. Rodríguez, N. Mahy, and J.M. Vidal-Taboada CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis PLoS One 9 5 2014 e96528
-
(2014)
PLoS One
, vol.9
, Issue.5
, pp. e96528
-
-
Lopez-Lopez, A.1
Gamez, J.2
Syriani, E.3
Morales, M.4
Salvado, M.5
Rodríguez, M.J.6
Mahy, N.7
Vidal-Taboada, J.M.8
-
124
-
-
80955178345
-
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant
-
(e15-18)
-
M. Luigetti, S. Lattante, M. Zollino, A. Conte, G. Marangi, A. Del Grande, and M. Sabatelli SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant Neurobiol. Aging 32 10 2011 1924 (e15-18)
-
(2011)
Neurobiol. Aging
, vol.32
, Issue.10
, pp. 1924
-
-
Luigetti, M.1
Lattante, S.2
Zollino, M.3
Conte, A.4
Marangi, G.5
Del Grande, A.6
Sabatelli, M.7
-
125
-
-
84858622829
-
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
-
E. Majounie, A.E. Renton, K. Mok, E.G. Dopper, A. Waite, S. Rollinson, A. Chiò, G. Restagno, N. Nicolaou, J. Simon-Sanchez, J.C. van Swieten, Y. Abramzon, J.O. Johnson, M. Sendtner, R. Pamphlett, R.W. Orrell, S. Mead, K.C. Sidle, H. Houlden, J.D. Rohrer, K.E. Morrison, H. Pall, K. Talbot, O. Ansorge, Chromosome 9-ALS/FTD Consortium; French research network on FTLD/FTLD/ALS; ITALSGEN Consortium, D.G. Hernandez, S. Arepalli, M. Sabatelli, G. Mora, M. Corbo, F. Giannini, A. Calvo, E. Englund, G. Borghero, GL. Floris, A.M. Remes, H. Laaksovirta, L. McCluskey, J.Q. Trojanowski, V.M. Van Deerlin, G.D. Schellenberg, M.A. Nalls, V.E. Drory, C.S. Lu, T.H. Yeh, H. Ishiura, Y. Takahashi, S. Tsuji, I. Le Ber, A. Brice, C. Drepper, N. Williams, J. Kirby, P. Shaw, J. Hardy, P.J. Tienari, P. Heutink, H.R. Morris, S. Pickering-Brown, and B.J. Traynor Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study Lancet Neurol. 11 4 2012 323 330
-
(2012)
Lancet Neurol.
, vol.11
, Issue.4
, pp. 323-330
-
-
Majounie, E.1
Renton, A.E.2
Mok, K.3
Dopper, E.G.4
Waite, A.5
Rollinson, S.6
Chiò, A.7
Restagno, G.8
Nicolaou, N.9
Simon-Sanchez, J.10
Van Swieten, J.C.11
Abramzon, Y.12
Johnson, J.O.13
Sendtner, M.14
Pamphlett, R.15
Orrell, R.W.16
Mead, S.17
Sidle, K.C.18
Houlden, H.19
Rohrer, J.D.20
Morrison, K.E.21
Pall, H.22
Talbot, K.23
Ansorge, O.24
Consortium, C.25
Hernandez, D.G.26
Arepalli, S.27
Sabatelli, M.28
Mora, G.29
Corbo, M.30
Giannini, F.31
Calvo, A.32
Englund, E.33
Borghero, G.34
Floris, G.L.35
Remes, A.M.36
Laaksovirta, H.37
McCluskey, L.38
Trojanowski, J.Q.39
Van Deerlin, V.M.40
Schellenberg, G.D.41
Nalls, M.A.42
Drory, V.E.43
Lu, C.S.44
Yeh, T.H.45
Ishiura, H.46
Takahashi, Y.47
Tsuji, S.48
Le Ber, I.49
Brice, A.50
Drepper, C.51
Williams, N.52
Kirby, J.53
Shaw, P.54
Hardy, J.55
Tienari, P.J.56
Heutink, P.57
Morris, H.R.58
Pickering-Brown, S.59
Traynor, B.J.60
more..
-
126
-
-
77952419246
-
Mutations of optineurin in amyotrophic lateral sclerosis
-
H. Maruyama, H. Morino, H. Ito, Y. Izumi, H. Kato, Y. Watanabe, Y. Kinoshita, M. Kamada, H. Nodera, H. Suzuki, O. Komure, S. Matsuura, K. Kobatake, N. Morimoto, K. Abe, N. Suzuki, M. Aoki, A. Kawata, T. Hirai, T. Kato, K. Ogasawara, A. Hirano, T. Takumi, H. Kusaka, K. Hagiwara, R. Kaji, and H. Kawakami Mutations of optineurin in amyotrophic lateral sclerosis Nature 465 7295 2010 223 226
-
(2010)
Nature
, vol.465
, Issue.7295
, pp. 223-226
-
-
Maruyama, H.1
Morino, H.2
Ito, H.3
Izumi, Y.4
Kato, H.5
Watanabe, Y.6
Kinoshita, Y.7
Kamada, M.8
Nodera, H.9
Suzuki, H.10
Komure, O.11
Matsuura, S.12
Kobatake, K.13
Morimoto, N.14
Abe, K.15
Suzuki, N.16
Aoki, M.17
Kawata, A.18
Hirai, T.19
Kato, T.20
Ogasawara, K.21
Hirano, A.22
Takumi, T.23
Kusaka, H.24
Hagiwara, K.25
Kaji, R.26
Kawakami, H.27
more..
-
127
-
-
84887315590
-
Mosaic copy number variation in human neurons
-
M.J. McConnell, M.R. Lindberg, K.J. Brennand, J.C. Piper, T. Voet, C. Cowing-Zitron, S. Shumilina, R.S. Lasken, J.R. Vermeesch, I.M. Hall, and F.H. Gage Mosaic copy number variation in human neurons Science 342 6158 2013 632 637
-
(2013)
Science
, vol.342
, Issue.6158
, pp. 632-637
-
-
McConnell, M.J.1
Lindberg, M.R.2
Brennand, K.J.3
Piper, J.C.4
Voet, T.5
Cowing-Zitron, C.6
Shumilina, S.7
Lasken, R.S.8
Vermeesch, J.R.9
Hall, I.M.10
Gage, F.H.11
-
128
-
-
84869201069
-
TARDBP mutations are not a frequent cause of ALS in Finnish patients
-
H.K. Mentula, L. Tuovinen, S. Penttilä, T. Suominen, B. Udd, and J. Palmio TARDBP mutations are not a frequent cause of ALS in Finnish patients Acta Myol. 31 2 2012 134 138
-
(2012)
Acta Myol.
, vol.31
, Issue.2
, pp. 134-138
-
-
Mentula, H.K.1
Tuovinen, L.2
Penttilä, S.3
Suominen, T.4
Udd, B.5
Palmio, J.6
-
129
-
-
22044432063
-
Early-onset ALS with long-term survival associated with spastin gene mutation
-
T. Meyer, A. Schwan, J.S. Dullinger, J. Brocke, K.T. Hoffmann, C.H. Nolte, A. Hopt, U. Kopp, P. Andersen, J.T. Epplen, and P. Linke Early-onset ALS with long-term survival associated with spastin gene mutation Neurology 65 1 2005 141 143
-
(2005)
Neurology
, vol.65
, Issue.1
, pp. 141-143
-
-
Meyer, T.1
Schwan, A.2
Dullinger, J.S.3
Brocke, J.4
Hoffmann, K.T.5
Nolte, C.H.6
Hopt, A.7
Kopp, U.8
Andersen, P.9
Epplen, J.T.10
Linke, P.11
-
130
-
-
77955396350
-
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: Genotype-phenotype correlations
-
S. Millecamps, F. Salachas, C. Cazeneuve, P. Gordon, B. Bricka, A. Camuzat, L. Guillot-Noël, O. Russaouen, G. Bruneteau, PF. Pradat, N. Le Forestier, N. Vandenberghe, V. Danel-Brunaud, N. Guy, C. Thauvin-Robinet, L. Lacomblez, P. Couratier, D. Hannequin, D. Seilhean, I. Le Ber, P. Corcia, W. Camu, A. Brice, G. Rouleau, E. LeGuern, and V. Meininger SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations J. Med. Genet. 47 8 2010 554 560
-
(2010)
J. Med. Genet.
, vol.47
, Issue.8
, pp. 554-560
-
-
Millecamps, S.1
Salachas, F.2
Cazeneuve, C.3
Gordon, P.4
Bricka, B.5
Camuzat, A.6
Guillot-Noël, L.7
Russaouen, O.8
Bruneteau, G.9
Pradat, P.F.10
Le Forestier, N.11
Vandenberghe, N.12
Danel-Brunaud, V.13
Guy, N.14
Thauvin-Robinet, C.15
Lacomblez, L.16
Couratier, P.17
Hannequin, D.18
Seilhean, D.19
Le Ber, I.20
Corcia, P.21
Camu, W.22
Brice, A.23
Rouleau, G.24
Leguern, E.25
Meininger, V.26
more..
-
131
-
-
84876466100
-
An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: A phase 1, randomised, first-in-man study
-
T.M. Miller, A. Pestronk, W. David, J. Rothstein, E. Simpson, SH. Appel, P.L. Andres, K. Mahoney, P. Allred, K. Alexander, L.W. Ostrow, D. Schoenfeld, E.A. Macklin, D.A. Norris, G. Manousakis, M. Crisp, R. Smith, C.F. Bennett, K.M. Bishop, and M.E. Cudkowicz An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study Lancet Neurol. 12 5 2013 435 442
-
(2013)
Lancet Neurol.
, vol.12
, Issue.5
, pp. 435-442
-
-
Miller, T.M.1
Pestronk, A.2
David, W.3
Rothstein, J.4
Simpson, E.5
Appel, S.H.6
Andres, P.L.7
Mahoney, K.8
Allred, P.9
Alexander, K.10
Ostrow, L.W.11
Schoenfeld, D.12
MacKlin, E.A.13
Norris, D.A.14
Manousakis, G.15
Crisp, M.16
Smith, R.17
Bennett, C.F.18
Bishop, K.M.19
Cudkowicz, M.E.20
more..
-
132
-
-
77952194773
-
Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase
-
J. Mitchell, P. Paul, H.J. Chen, A. Morris, M. Payling, M. Falchi, J. Habgood, S. Panoutsou, S. Winkler, V. Tisato, A. Hajitou, B. Smith, C. Vance, C. Shaw, N.D. Mazarakis, and J. de Belleroche Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase Proc. Natl. Acad. Sci. U.S.A 107 16 2010 7556 7561
-
(2010)
Proc. Natl. Acad. Sci. U.S.A
, vol.107
, Issue.16
, pp. 7556-7561
-
-
Mitchell, J.1
Paul, P.2
Chen, H.J.3
Morris, A.4
Payling, M.5
Falchi, M.6
Habgood, J.7
Panoutsou, S.8
Winkler, S.9
Tisato, V.10
Hajitou, A.11
Smith, B.12
Vance, C.13
Shaw, C.14
Mazarakis, N.D.15
De Belleroche, J.16
-
133
-
-
84887624154
-
Homozygosity analysis in amyotrophic lateral sclerosis
-
K. Mok, H. Laaksovirta, P.J. Tienari, T. Peuralinna, L. Myllykangas, A. Chiò, B.J. Traynor, M.A. Nalls, N. Gurunlian, A. Shatunov, G. Restagno, G. Mora, P. Nigel Leigh, C.E. Shaw, K.E. Morrison, P.J. Shaw, A. Al-Chalabi, J. Hardy, and R.W. Orrell Homozygosity analysis in amyotrophic lateral sclerosis Eur. J. Hum. Genet. 21 12 2013 1429 1435
-
(2013)
Eur. J. Hum. Genet.
, vol.21
, Issue.12
, pp. 1429-1435
-
-
Mok, K.1
Laaksovirta, H.2
Tienari, P.J.3
Peuralinna, T.4
Myllykangas, L.5
Chiò, A.6
Traynor, B.J.7
Nalls, M.A.8
Gurunlian, N.9
Shatunov, A.10
Restagno, G.11
Mora, G.12
Nigel Leigh, P.13
Shaw, C.E.14
Morrison, K.E.15
Shaw, P.J.16
Al-Chalabi, A.17
Hardy, J.18
Orrell, R.W.19
-
134
-
-
70450158919
-
A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis
-
J.M. Morahan, B. Yu, R.J. Trent, and R. Pamphlett A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis Amyotroph. Lateral Scler. 10 5-6 2009 418 429
-
(2009)
Amyotroph. Lateral Scler.
, vol.10
, Issue.56
, pp. 418-429
-
-
Morahan, J.M.1
Yu, B.2
Trent, R.J.3
Pamphlett, R.4
-
135
-
-
33645062075
-
A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
-
M. Morita, A. Al-Chalabi, P.M. Andersen, B. Hosler, P. Sapp, E. Englund, J.E. Mitchell, J.J. Habgood, J. de Belleroche, J. Xi, W. Jongjaroenprasert, H.R. Horvitz, L.G. Gunnarsson, and R.H. Brown Jr. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia Neurology 66 6 2006 839 844
-
(2006)
Neurology
, vol.66
, Issue.6
, pp. 839-844
-
-
Morita, M.1
Al-Chalabi, A.2
Andersen, P.M.3
Hosler, B.4
Sapp, P.5
Englund, E.6
Mitchell, J.E.7
Habgood, J.J.8
De Belleroche, J.9
Xi, J.10
Jongjaroenprasert, W.11
Horvitz, H.R.12
Gunnarsson, L.G.13
Brown, Jr.R.H.14
-
136
-
-
84920932398
-
Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease
-
K. Müller, P.M. Andersen, A. Hübers, N. Marroquin, A.E. Volk, K.M. Danzer, T. Meitinger, A.C. Ludolph, T.M. Strom, and J.H. Weishaupt Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease Brain pii: awu227 2014
-
(2014)
Brain Pii: Awu227
-
-
Müller, K.1
Andersen, P.M.2
Hübers, A.3
Marroquin, N.4
Volk, A.E.5
Danzer, K.M.6
Meitinger, T.7
Ludolph, A.C.8
Strom, T.M.9
Weishaupt, J.H.10
-
137
-
-
4143084861
-
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS
-
C. Münch, R. Sedlmeier, T. Meyer, V. Homberg, A.D. Sperfeld, A. Kurt, J. Prudlo, G. Peraus, C.O. Hanemann, G. Stumm, and A.C. Ludolph Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS Neurology 63 4 2004 724 726
-
(2004)
Neurology
, vol.63
, Issue.4
, pp. 724-726
-
-
Münch, C.1
Sedlmeier, R.2
Meyer, T.3
Homberg, V.4
Sperfeld, A.D.5
Kurt, A.6
Prudlo, J.7
Peraus, G.8
Hanemann, C.O.9
Stumm, G.10
Ludolph, A.C.11
-
138
-
-
79952743365
-
Prion-like propagation of mutant superoxide dismutase-1 misfolding in neuronal cells
-
C. Munch, J. O'Brien, and A. Bertolotti Prion-like propagation of mutant superoxide dismutase-1 misfolding in neuronal cells Proc. Natl. Acad. Sci. U.S.A 108 2011 3548 3553
-
(2011)
Proc. Natl. Acad. Sci. U.S.A
, vol.108
, pp. 3548-3553
-
-
Munch, C.1
O'Brien, J.2
Bertolotti, A.3
-
139
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
B.M. Neale, Y. Kou, L. Liu, A. Ma'ayan, K.E. Samocha, A. Sabo, C.F. Lin, C. Stevens, L.S. Wang, V. Makarov, P. Polak, S. Yoon, J. Maguire, E.L. Crawford, N.G. Campbell, E.T. Geller, O. Valladares, C. Schafer, H. Liu, T. Zhao, G. Cai, J. Lihm, R. Dannenfelser, O. Jabado, Z. Peralta, U. Nagaswamy, D. Muzny, JG. Reid, I. Newsham, Y. Wu, L. Lewis, Y. Han, B.F. Voight, E. Lim, E. Rossin, A. Kirby, J. Flannick, M. Fromer, K. Shakir, T. Fennell, K. Garimella, E. Banks, R. Poplin, S. Gabriel, M. DePristo, J.R. Wimbish, B.E. Boone, S.E. Levy, C. Betancur, S. Sunyaev, E. Boerwinkle, J.D. Buxbaum, E.H. Cook Jr., B. Devlin, R.A. Gibbs, K. Roeder, G.D. Schellenberg, J.S. Sutcliffe, and M.J. Daly Patterns and rates of exonic de novo mutations in autism spectrum disorders Nature 485 7397 2012 242 245
-
(2012)
Nature
, vol.485
, Issue.7397
, pp. 242-245
-
-
Neale, B.M.1
Kou, Y.2
Liu, L.3
Ma'Ayan, A.4
Samocha, K.E.5
Sabo, A.6
Lin, C.F.7
Stevens, C.8
Wang, L.S.9
Makarov, V.10
Polak, P.11
Yoon, S.12
Maguire, J.13
Crawford, E.L.14
Campbell, N.G.15
Geller, E.T.16
Valladares, O.17
Schafer, C.18
Liu, H.19
Zhao, T.20
Cai, G.21
Lihm, J.22
Dannenfelser, R.23
Jabado, O.24
Peralta, Z.25
Nagaswamy, U.26
Muzny, D.27
Reid, J.G.28
Newsham, I.29
Wu, Y.30
Lewis, L.31
Han, Y.32
Voight, B.F.33
Lim, E.34
Rossin, E.35
Kirby, A.36
Flannick, J.37
Fromer, M.38
Shakir, K.39
Fennell, T.40
Garimella, K.41
Banks, E.42
Poplin, R.43
Gabriel, S.44
Depristo, M.45
Wimbish, J.R.46
Boone, B.E.47
Levy, S.E.48
Betancur, C.49
Sunyaev, S.50
Boerwinkle, E.51
Buxbaum, J.D.52
Cook, Jr.E.H.53
Devlin, B.54
Gibbs, R.A.55
Roeder, K.56
Schellenberg, G.D.57
Sutcliffe, J.S.58
Daly, M.J.59
more..
-
140
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
M. Neumann, D.M. Sampathu, L.K. Kwong, A.C. Truax, M.C. Micsenyi, T.T. Chou, J. Bruce, T. Schuck, M. Grossman, C.M. Clark, L.F. McCluskey, B.L. Miller, E. Masliah, I.R. Mackenzie, H. Feldman, W. Feiden, H.A. Kretzschmar, J.Q. Trojanowski, and V.M. Lee Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Science 314 5796 2006 130 133
-
(2006)
Science
, vol.314
, Issue.5796
, pp. 130-133
-
-
Neumann, M.1
Sampathu, D.M.2
Kwong, L.K.3
Truax, A.C.4
Micsenyi, M.C.5
Chou, T.T.6
Bruce, J.7
Schuck, T.8
Grossman, M.9
Clark, C.M.10
McCluskey, L.F.11
Miller, B.L.12
Masliah, E.13
MacKenzie, I.R.14
Feldman, H.15
Feiden, W.16
Kretzschmar, H.A.17
Trojanowski, J.Q.18
Lee, V.M.19
-
141
-
-
6344257200
-
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
-
A.L. Nishimura, M. Mitne-Neto, H.C. Silva, A. Richieri-Costa, S. Middleton, D. Cascio, F. Kok, J.R. Oliveira, T. Gillingwater, J. Webb, P. Skehel, and M. Zatz A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis Am. J. Hum. Genet. 75 5 2004 822 831
-
(2004)
Am. J. Hum. Genet.
, vol.75
, Issue.5
, pp. 822-831
-
-
Nishimura, A.L.1
Mitne-Neto, M.2
Silva, H.C.3
Richieri-Costa, A.4
Middleton, S.5
Cascio, D.6
Kok, F.7
Oliveira, J.R.8
Gillingwater, T.9
Webb, J.10
Skehel, P.11
Zatz, M.12
-
142
-
-
84885484356
-
Prion-like properties of of pathological TDP-43 aggregates from diseased brains
-
T. Nonaka, M. Masuda-Suzukake, T. Arai, Y. Hasegawa, H. Akatsu, T. Obi, M. Yoshida, S. Murayama, D.M.A. Mann, H. Akiyama, and M. Hasegawa Prion-like properties of of pathological TDP-43 aggregates from diseased brains Cell Rep 4 2013 124 134
-
(2013)
Cell Rep
, vol.4
, pp. 124-134
-
-
Nonaka, T.1
Masuda-Suzukake, M.2
Arai, T.3
Hasegawa, Y.4
Akatsu, H.5
Obi, T.6
Yoshida, M.7
Murayama, S.8
Mann, D.M.A.9
Akiyama, H.10
Hasegawa, M.11
-
143
-
-
84864383816
-
Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis
-
Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) (2527)
-
K. Ogaki, Y. Li, N. Atsuta, H. Tomiyama, M. Funayama, H. Watanabe, R. Nakamura, H. Yoshino, S. Yato, A. Tamura, Y. Naito, A. Taniguchi, K. Fujita, Y. Izumi, R. Kaji, N. Hattori, G Sobue, and Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis Neurobiol. Aging 33 10 2012 e11 e16 (2527)
-
(2012)
Neurobiol. Aging
, vol.33
, Issue.10
, pp. e11-e16
-
-
Ogaki, K.1
Li, Y.2
Atsuta, N.3
Tomiyama, H.4
Funayama, M.5
Watanabe, H.6
Nakamura, R.7
Yoshino, H.8
Yato, S.9
Tamura, A.10
Naito, Y.11
Taniguchi, A.12
Fujita, K.13
Izumi, Y.14
Kaji, R.15
Hattori, N.16
Sobue, G.17
-
144
-
-
77249126425
-
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
-
A. Orlacchio, C. Babalini, A. Borreca, C. Patrono, R. Massa, S. Basaran, R.P. Munhoz, E.A. Rogaeva St, P.H. George-Hyslop, G. Bernardi, and T. Kawarai SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis Brain 133 Pt 2 2010 591 598
-
(2010)
Brain
, vol.133
, pp. 591-598
-
-
Orlacchio, A.1
Babalini, C.2
Borreca, A.3
Patrono, C.4
Massa, R.5
Basaran, S.6
Munhoz, R.P.7
Rogaeva St, E.A.8
George-Hyslop, P.H.9
Bernardi, G.10
Kawarai, T.11
-
145
-
-
0032741787
-
Association of monoamine oxidase B alleles with age at onset in amyotrophic lateral sclerosis
-
S. Orrù, V. Mascia, M. Casula, E. Giuressi, A. Loizedda, C. Carcassi, M. Giagheddu, and L. Contu Association of monoamine oxidase B alleles with age at onset in amyotrophic lateral sclerosis Neuromuscul. Disord 9 8 1999 593 597
-
(1999)
Neuromuscul. Disord
, vol.9
, Issue.8
, pp. 593-597
-
-
Orrù, S.1
Mascia, V.2
Casula, M.3
Giuressi, E.4
Loizedda, A.5
Carcassi, C.6
Giagheddu, M.7
Contu, L.8
-
146
-
-
79954994064
-
Using case-parent trios to look for rare de novo genetic variants in adult-onset neurodegenerative diseases
-
R. Pamphlett, J.M. Morahan, and B. Yu Using case-parent trios to look for rare de novo genetic variants in adult-onset neurodegenerative diseases J. Neurosci. Methods 197 2 2011 297 301
-
(2011)
J. Neurosci. Methods
, vol.197
, Issue.2
, pp. 297-301
-
-
Pamphlett, R.1
Morahan, J.M.2
Yu, B.3
-
147
-
-
80052886551
-
Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis
-
R. Pamphlett, J.M. Morahan, N. Luquin, and B. Yu Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis Muscle Nerve 44 4 2011 492 498
-
(2011)
Muscle Nerve
, vol.44
, Issue.4
, pp. 492-498
-
-
Pamphlett, R.1
Morahan, J.M.2
Luquin, N.3
Yu, B.4
-
148
-
-
79960983213
-
Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis
-
R. Pamphlett, and J.M. Morahan Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis J. Clin. Neurosci. 18 9 2011 1231 1234
-
(2011)
J. Clin. Neurosci.
, vol.18
, Issue.9
, pp. 1231-1234
-
-
Pamphlett, R.1
Morahan, J.M.2
-
149
-
-
33749006845
-
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
-
MRC Proteomics in ALS Study; FReJA Consortium
-
N. Parkinson, P.G. Ince, M.O. Smith, R. Highley, G. Skibinski, P.M. Andersen, K.E. Morrison, H.S. Pall, O. Hardiman, J. Collinge, P.J. Shaw, E.M Fisher, and MRC Proteomics in ALS Study; FReJA Consortium ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B) Neurology 67 6 2006 1074 1077
-
(2006)
Neurology
, vol.67
, Issue.6
, pp. 1074-1077
-
-
Parkinson, N.1
Ince, P.G.2
Smith, M.O.3
Highley, R.4
Skibinski, G.5
Andersen, P.M.6
Morrison, K.E.7
Pall, H.S.8
Hardiman, O.9
Collinge, J.10
Shaw, P.J.11
Fisher, E.M.12
-
150
-
-
79953814616
-
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome
-
J.P. Pearson, N.M. Williams, E. Majounie, A. Waite, J. Stott, V. Newsway, A. Murray, D. Hernandez, R. Guerreiro, A.B. Singleton, J. Neal, and H.R. Morris Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome J. Neurol. 258 4 2011 647 655
-
(2011)
J. Neurol.
, vol.258
, Issue.4
, pp. 647-655
-
-
Pearson, J.P.1
Williams, N.M.2
Majounie, E.3
Waite, A.4
Stott, J.5
Newsway, V.6
Murray, A.7
Hernandez, D.8
Guerreiro, R.9
Singleton, A.B.10
Neal, J.11
Morris, H.R.12
-
151
-
-
84859646140
-
Somatic activation of AKT3 causes hemispheric developmental brain malformations
-
A. Poduri, G.D. Evrony, X. Cai, P.C. Elhosary, R. Beroukhim, M.K. Lehtinen, L.B. Hills, E.L. Heinzen, A. Hill, R.S. Hill, B.J. Barry, B.F. Bourgeois, J.J. Riviello, A.J. Barkovich, P.M. Black, K.L. Ligon, and C.A. Walsh Somatic activation of AKT3 causes hemispheric developmental brain malformations Neuron 74 1 2012 41 48
-
(2012)
Neuron
, vol.74
, Issue.1
, pp. 41-48
-
-
Poduri, A.1
Evrony, G.D.2
Cai, X.3
Elhosary, P.C.4
Beroukhim, R.5
Lehtinen, M.K.6
Hills, L.B.7
Heinzen, E.L.8
Hill, A.9
Hill, R.S.10
Barry, B.J.11
Bourgeois, B.F.12
Riviello, J.J.13
Barkovich, A.J.14
Black, P.M.15
Ligon, K.L.16
Walsh, C.A.17
-
152
-
-
84879756120
-
Somatic mutation, genomic variation, and neurological disease
-
A. Poduri, G.D. Evrony, X. Cai, and C.A. Walsh Somatic mutation, genomic variation, and neurological disease Science 341 6141 2013 1237758
-
(2013)
Science
, vol.341
, Issue.6141
, pp. 1237758
-
-
Poduri, A.1
Evrony, G.D.2
Cai, X.3
Walsh, C.A.4
-
153
-
-
0037382240
-
Mutant dynactin in motor neuron disease
-
I. Puls, C. Jonnakuty, B.H. LaMonte, E.L. Holzbaur, M. Tokito, E. Mann, M.K. Floeter, K. Bidus, D. Drayna, S.J. Oh, R.H. Brown Jr., C.L. Ludlow, and K.H. Fischbeck Mutant dynactin in motor neuron disease Nat. Genet. 33 4 2003 455 456
-
(2003)
Nat. Genet.
, vol.33
, Issue.4
, pp. 455-456
-
-
Puls, I.1
Jonnakuty, C.2
Lamonte, B.H.3
Holzbaur, E.L.4
Tokito, M.5
Mann, E.6
Floeter, M.K.7
Bidus, K.8
Drayna, D.9
Oh, S.J.10
Brown, Jr.R.H.11
Ludlow, C.L.12
Fischbeck, K.H.13
-
154
-
-
80052726999
-
Broadening the phenotype of TARDBP mutations: The TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia
-
M. Quadri, G. Cossu, V. Saddi, E.J. Simons, D. Murgia, M. Melis, A. Ticca, B.A. Oostra, and V. Bonifati Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia Neurogenetics 12 3 2011 203 209
-
(2011)
Neurogenetics
, vol.12
, Issue.3
, pp. 203-209
-
-
Quadri, M.1
Cossu, G.2
Saddi, V.3
Simons, E.J.4
Murgia, D.5
Melis, M.6
Ticca, A.7
Oostra, B.A.8
Bonifati, V.9
-
155
-
-
41149133870
-
Neuropathy target esterase gene mutations cause motor neuron disease
-
S. Rainier, M. Bui, E. Mark, D. Thomas, D. Tokarz, L. Ming, C. Delaney, R.J. Richardson, J.W. Albers, N. Matsunami, J. Stevens, H. Coon, M. Leppert, and J.K. Fink Neuropathy target esterase gene mutations cause motor neuron disease Am. J. Hum. Genet. 82 3 2008 780 785
-
(2008)
Am. J. Hum. Genet.
, vol.82
, Issue.3
, pp. 780-785
-
-
Rainier, S.1
Bui, M.2
Mark, E.3
Thomas, D.4
Tokarz, D.5
Ming, L.6
Delaney, C.7
Richardson, R.J.8
Albers, J.W.9
Matsunami, N.10
Stevens, J.11
Coon, H.12
Leppert, M.13
Fink, J.K.14
-
156
-
-
84874279387
-
TARDBP mutations in Parkinson's disease
-
S. Rayaprolu, S. Fujioka, S. Traynor, A.I. Soto-Ortolaza, L. Petrucelli, D.W. Dickson, R. Rademakers, K.B. Boylan, N.R. Graff-Radford, R.J. Uitti, Z.K. Wszolek, and O.A. Ross TARDBP mutations in Parkinson's disease Parkinsonism Relat. Disord. 19 3 2013 312 315
-
(2013)
Parkinsonism Relat. Disord.
, vol.19
, Issue.3
, pp. 312-315
-
-
Rayaprolu, S.1
Fujioka, S.2
Traynor, S.3
Soto-Ortolaza, A.I.4
Petrucelli, L.5
Dickson, D.W.6
Rademakers, R.7
Boylan, K.B.8
Graff-Radford, N.R.9
Uitti, R.J.10
Wszolek, Z.K.11
Ross, O.A.12
-
157
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
A.E. Renton, E. Majounie, A. Waite, J. Simón-Sánchez, S. Rollinson, J.R. Gibbs, J.C. Schymick, H. Laaksovirta, J.C. van Swieten, L. Myllykangas, H. Kalimo, A. Paetau, Y. Abramzon, A.M. Remes, A. Kaganovich, S.W. Scholz, J. Duckworth, J. Ding, D.W. Harmer, D.G. Hernandez, J.O. Johnson, K. Mok, M. Ryten, D. Trabzuni, R.J. Guerreiro, R.W. Orrell, J. Neal, A. Murray, J. Pearson, I.E. Jansen, D. Sondervan, H. Seelaar, D. Blake, K. Young, N. Halliwell, J.B. Callister, G. Toulson, A. Richardson, A. Gerhard, J. Snowden, D. Mann, D. Neary, M.A. Nalls, T. Peuralinna, L. Jansson, V.M. Isoviita, A.L. Kaivorinne, M. Hölttä-Vuori, E. Ikonen, R. Sulkava, M. Benatar, J. Wuu, A. Chiò, G. Restagno, G. Borghero, M. Sabatelli, ITALSGEN Consortium, D. Heckerman, E. Rogaeva, L. Zinman, J.D. Rothstein, M. Sendtner, C. Drepper, E.E. Eichler, C. Alkan, Z. Abdullaev, S.D. Pack, A. Dutra, E. Pak, J. Hardy, A. Singleton, N.M. Williams, P. Heutink, S. Pickering-Brown, H.R. Morris, P.J. Tienari, and B.J. Traynor A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD Neuron 72 2 2011 257 268
-
(2011)
Neuron
, vol.72
, Issue.2
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
Simón-Sánchez, J.4
Rollinson, S.5
Gibbs, J.R.6
Schymick, J.C.7
Laaksovirta, H.8
Van Swieten, J.C.9
Myllykangas, L.10
Kalimo, H.11
Paetau, A.12
Abramzon, Y.13
Remes, A.M.14
Kaganovich, A.15
Scholz, S.W.16
Duckworth, J.17
Ding, J.18
Harmer, D.W.19
Hernandez, D.G.20
Johnson, J.O.21
Mok, K.22
Ryten, M.23
Trabzuni, D.24
Guerreiro, R.J.25
Orrell, R.W.26
Neal, J.27
Murray, A.28
Pearson, J.29
Jansen, I.E.30
Sondervan, D.31
Seelaar, H.32
Blake, D.33
Young, K.34
Halliwell, N.35
Callister, J.B.36
Toulson, G.37
Richardson, A.38
Gerhard, A.39
Snowden, J.40
Mann, D.41
Neary, D.42
Nalls, M.A.43
Peuralinna, T.44
Jansson, L.45
Isoviita, V.M.46
Kaivorinne, A.L.47
Hölttä-Vuori, M.48
Ikonen, E.49
Sulkava, R.50
Benatar, M.51
Wuu, J.52
Chiò, A.53
Restagno, G.54
Borghero, G.55
Sabatelli, M.56
Consortium, I.57
Heckerman, D.58
Rogaeva, E.59
Zinman, L.60
Rothstein, J.D.61
Sendtner, M.62
Drepper, C.63
Eichler, E.E.64
Alkan, C.65
Abdullaev, Z.66
Pack, S.D.67
Dutra, A.68
Pak, E.69
Hardy, J.70
Singleton, A.71
Williams, N.M.72
Heutink, P.73
Pickering-Brown, S.74
Morris, H.R.75
Tienari, P.J.76
Traynor, B.J.77
more..
-
158
-
-
84893649256
-
State of play in amyotrophic lateral sclerosis genetics
-
A.E. Renton, A. Chiò, and B.J. Traynor State of play in amyotrophic lateral sclerosis genetics Nat. Neurosci. 17 1 2014 17 23
-
(2014)
Nat. Neurosci.
, vol.17
, Issue.1
, pp. 17-23
-
-
Renton, A.E.1
Chiò, A.2
Traynor, B.J.3
-
159
-
-
18244385269
-
Adult-onset primary open-angle glaucoma caused by mutations in optineurin
-
T. Rezaie, A. Child, R. Hitchings, G. Brice, L. Miller, M. Coca-Prados, E. Héon, T. Krupin, R. Ritch, D. Kreutzer, R.P. Crick, and M. Sarfarazi Adult-onset primary open-angle glaucoma caused by mutations in optineurin Science 295 5557 2002 1077 1079
-
(2002)
Science
, vol.295
, Issue.5557
, pp. 1077-1079
-
-
Rezaie, T.1
Child, A.2
Hitchings, R.3
Brice, G.4
Miller, L.5
Coca-Prados, M.6
Héon, E.7
Krupin, T.8
Ritch, R.9
Kreutzer, D.10
Crick, R.P.11
Sarfarazi, M.12
-
160
-
-
84864400015
-
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
-
J.B. Rivière, G.M. Mirzaa, B.J. O'Roak, M. Beddaoui, D. Alcantara, R.L. Conway, J. St-Onge, J.A. Schwartzentruber, K.W. Gripp, S.M. Nikkel, T. Worthylake, C.T. Sullivan, T.R. Ward, H.E. Butler, N.A. Kramer, B. Albrecht, C.M. Armour, L. Armstrong, O. Caluseriu, C. Cytrynbaum, B.A. Drolet, A.M. Innes, J.L. Lauzon, A.E. Lin, G.M. Mancini, W.S. Meschino, J.D. Reggin, A.K. Saggar, T. Lerman-Sagie, G. Uyanik, R. Weksberg, B. Zirn, CL Beaulieu, Finding of Rare Disease Genes (FORGE) Canada Consortium, J. Majewski, D.E. Bulman, M. O'Driscoll, J. Shendure, J.M. Graham Jr., K.M. Boycott, and W.B. Dobyns De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Nat. Genet. 44 8 2012 934 940
-
(2012)
Nat. Genet.
, vol.44
, Issue.8
, pp. 934-940
-
-
Rivière, J.B.1
Mirzaa, G.M.2
O'Roak, B.J.3
Beddaoui, M.4
Alcantara, D.5
Conway, R.L.6
St-Onge, J.7
Schwartzentruber, J.A.8
Gripp, K.W.9
Nikkel, S.M.10
Worthylake, T.11
Sullivan, C.T.12
Ward, T.R.13
Butler, H.E.14
Kramer, N.A.15
Albrecht, B.16
Armour, C.M.17
Armstrong, L.18
Caluseriu, O.19
Cytrynbaum, C.20
Drolet, B.A.21
Innes, A.M.22
Lauzon, J.L.23
Lin, A.E.24
Mancini, G.M.25
Meschino, W.S.26
Reggin, J.D.27
Saggar, A.K.28
Lerman-Sagie, T.29
Uyanik, G.30
Weksberg, R.31
Zirn, B.32
Beaulieu, C.L.33
Majewski, J.34
Bulman, D.E.35
O'Driscoll, M.36
Shendure, J.37
Graham, J.M.38
Boycott, K.M.39
Dobyns, W.B.40
more..
-
161
-
-
0027401203
-
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
-
D.R. Rosen, T. Siddique, D. Patterson, D.A. Figlewicz, P. Sapp, A. Hentati, D. Donaldson, J. Goto, J.P. O'Regan, H.X. Deng, Z. Rahmani, A. Krizus, D. McKenna-Yasek, A. Cayabyab, S.M. Gaston, R. Berger, R.E. Tanzi, J.J. Halperin, B. Herzfeldt, R. Van den Bergh, W.Y. Hung, T. Bird, G. Deng, D.W. Mulder, C. Smyth, N.G. Laing, E. Soriano, M.A. Pericak-Vance, J. Haines, G.A. Rouleau, J.S. Gusella, H.R. Horvitz, and R.H. Brown Jr. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis Nature 362 6415 1993 59 62
-
(1993)
Nature
, vol.362
, Issue.6415
, pp. 59-62
-
-
Rosen, D.R.1
Siddique, T.2
Patterson, D.3
Figlewicz, D.A.4
Sapp, P.5
Hentati, A.6
Donaldson, D.7
Goto, J.8
O'Regan, J.P.9
Deng, H.X.10
Rahmani, Z.11
Krizus, A.12
McKenna-Yasek, D.13
Cayabyab, A.14
Gaston, S.M.15
Berger, R.16
Tanzi, R.E.17
Halperin, J.J.18
Herzfeldt, B.19
Van Den Bergh, R.20
Hung, W.Y.21
Bird, T.22
Deng, G.23
Mulder, D.W.24
Smyth, C.25
Laing, N.G.26
Soriano, E.27
Pericak-Vance, M.A.28
Haines, J.29
Rouleau, G.A.30
Gusella, J.S.31
Horvitz, H.R.32
Brown, Jr.R.H.33
more..
-
162
-
-
84867543551
-
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
E. Rubino, I. Rainero, A. Chiò, E. Rogaeva, D. Galimberti, P. Fenoglio, Y. Grinberg, G. Isaia, A. Calvo, S. Gentile, A.C. Bruni St, P.H. George-Hyslop, E. Scarpini, S. Gallone, and L. Pinessi SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Neurology 79 15 2012 1556 1562
-
(2012)
Neurology
, vol.79
, Issue.15
, pp. 1556-1562
-
-
Rubino, E.1
Rainero, I.2
Chiò, A.3
Rogaeva, E.4
Galimberti, D.5
Fenoglio, P.6
Grinberg, Y.7
Isaia, G.8
Calvo, A.9
Gentile, S.10
Bruni St, A.C.11
George-Hyslop, P.H.12
Scarpini, E.13
Gallone, S.14
Pinessi, L.15
-
163
-
-
70349565939
-
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis
-
M. Sabatelli, F. Eusebi, A. Al-Chalabi, A. Conte, F. Madia, M. Luigetti, I. Mancuso, C. Limatola, F. Trettel, F. Sobrero, S. Di Angelantonio, F. Grassi, A. Di Castro, C. Moriconi, S. Fucile, S. Lattante, G. Marangi, M. Murdolo, D. Orteschi, A. Del Grande, P. Tonali, G. Neri, and M. Zollino Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis Hum. Mol. Genet. 18 20 2009 3997 4006
-
(2009)
Hum. Mol. Genet.
, vol.18
, Issue.20
, pp. 3997-4006
-
-
Sabatelli, M.1
Eusebi, F.2
Al-Chalabi, A.3
Conte, A.4
Madia, F.5
Luigetti, M.6
Mancuso, I.7
Limatola, C.8
Trettel, F.9
Sobrero, F.10
Di Angelantonio, S.11
Grassi, F.12
Di Castro, A.13
Moriconi, C.14
Fucile, S.15
Lattante, S.16
Marangi, G.17
Murdolo, M.18
Orteschi, D.19
Del Grande, A.20
Tonali, P.21
Neri, G.22
Zollino, M.23
more..
-
164
-
-
84866086673
-
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study
-
M. Sabatelli, S. Lattante, A. Conte, G. Marangi, M. Luigetti, A. Del Grande, A. Chiò, M. Corbo, F. Giannini, J. Mandrioli, G. Mora, A. Calvo, G. Restagno, C. Lunetta, S. Penco, S. Battistini, P. Zeppilli, A. Bizzarro, E. Capoluongo, G. Neri, P.M. Rossini, and M. Zollino Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study Amyotroph. Lateral Scler. 13 6 2012 580 584
-
(2012)
Amyotroph. Lateral Scler.
, vol.13
, Issue.6
, pp. 580-584
-
-
Sabatelli, M.1
Lattante, S.2
Conte, A.3
Marangi, G.4
Luigetti, M.5
Del Grande, A.6
Chiò, A.7
Corbo, M.8
Giannini, F.9
Mandrioli, J.10
Mora, G.11
Calvo, A.12
Restagno, G.13
Lunetta, C.14
Penco, S.15
Battistini, S.16
Zeppilli, P.17
Bizzarro, A.18
Capoluongo, E.19
Neri, G.20
Rossini, P.M.21
Zollino, M.22
more..
-
165
-
-
84861888264
-
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population
-
(1848.e15-20)
-
M. Sabatelli, F.L. Conforti, M. Zollino, G. Mora, M.R. Monsurrò, P. Volanti, K. Marinou, F. Salvi, M. Corbo, F. Giannini, S. Battistini, S. Penco, C. Lunetta, A. Quattrone, A. Gambardella, G. Logroscino, I. Simone, I. Bartolomei, F. Pisano, G. Tedeschi, A. Conte, R. Spataro, V. La Bella, C. Caponnetto, G. Mancardi, P. Mandich, P. Sola, J. Mandrioli, A.E. Renton, E. Majounie, Y. Abramzon, F. Marrosu, M.G. Marrosu, M.R. Murru, M.A. Sotgiu, M. Pugliatti, C. Rodolico, ITALSGEN Consortium, C. Moglia, A. Calvo, I. Ossola, M. Brunetti, B.J. Traynor, G. Borghero, G. Restagno, and A. Chiò C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population Neurobiol. Aging 33 8 2012 (1848.e15-20)
-
(2012)
Neurobiol. Aging
, vol.33
, Issue.8
-
-
Sabatelli, M.1
Conforti, F.L.2
Zollino, M.3
Mora, G.4
Monsurrò, M.R.5
Volanti, P.6
Marinou, K.7
Salvi, F.8
Corbo, M.9
Giannini, F.10
Battistini, S.11
Penco, S.12
Lunetta, C.13
Quattrone, A.14
Gambardella, A.15
Logroscino, G.16
Simone, I.17
Bartolomei, I.18
Pisano, F.19
Tedeschi, G.20
Conte, A.21
Spataro, R.22
La Bella, V.23
Caponnetto, C.24
Mancardi, G.25
Mandich, P.26
Sola, P.27
Mandrioli, J.28
Renton, A.E.29
Majounie, E.30
Abramzon, Y.31
Marrosu, F.32
Marrosu, M.G.33
Murru, M.R.34
Sotgiu, M.A.35
Pugliatti, M.36
Rodolico, C.37
Consortium, I.38
Moglia, C.39
Calvo, A.40
Ossola, I.41
Brunetti, M.42
Traynor, B.J.43
Borghero, G.44
Restagno, G.45
Chiò, A.46
more..
-
166
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
S.J. Sanders, M.T. Murtha, A.R. Gupta, J.D. Murdoch, M.J. Raubeson, A.J. Willsey, A.G. Ercan-Sencicek, N.M. DiLullo, N.N. Parikshak, J.L. Stein, M.F. Walker, G.T. Ober, N.A. Teran, Y. Song, P. El-Fishawy, R.C. Murtha, M. Choi, J.D. Overton, R.D. Bjornson, N.J. Carriero, K.A. Meyer, K. Bilguvar, S.M. Mane, N. Sestan, R.P. Lifton, M. Günel, K. Roeder, D.H. Geschwind, B. Devlin, and M.W. State De novo mutations revealed by whole-exome sequencing are strongly associated with autism Nature 485 7397 2012 237 241
-
(2012)
Nature
, vol.485
, Issue.7397
, pp. 237-241
-
-
Sanders, S.J.1
Murtha, M.T.2
Gupta, A.R.3
Murdoch, J.D.4
Raubeson, M.J.5
Willsey, A.J.6
Ercan-Sencicek, A.G.7
Dilullo, N.M.8
Parikshak, N.N.9
Stein, J.L.10
Walker, M.F.11
Ober, G.T.12
Teran, N.A.13
Song, Y.14
El-Fishawy, P.15
Murtha, R.C.16
Choi, M.17
Overton, J.D.18
Bjornson, R.D.19
Carriero, N.J.20
Meyer, K.A.21
Bilguvar, K.22
Mane, S.M.23
Sestan, N.24
Lifton, R.P.25
Günel, M.26
Roeder, K.27
Geschwind, D.H.28
Devlin, B.29
State, M.W.30
more..
-
167
-
-
0041664059
-
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis
-
P.C. Sapp, B.A. Hosler, D. McKenna-Yasek, W. Chin, A. Gann, H. Genise, J. Gorenstein, M. Huang, W. Sailer, M. Scheffler, M. Valesky, J.L. Haines, M. Pericak-Vance, T. Siddique, H.R. Horvitz, and R.H. Brown Jr. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis Am. J. Hum. Genet. 73 2 2003 397 403
-
(2003)
Am. J. Hum. Genet.
, vol.73
, Issue.2
, pp. 397-403
-
-
Sapp, P.C.1
Hosler, B.A.2
McKenna-Yasek, D.3
Chin, W.4
Gann, A.5
Genise, H.6
Gorenstein, J.7
Huang, M.8
Sailer, W.9
Scheffler, M.10
Valesky, M.11
Haines, J.L.12
Pericak-Vance, M.13
Siddique, T.14
Horvitz, H.R.15
Brown, Jr.R.H.16
-
168
-
-
33847622526
-
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: First stage analysis and public release of data
-
J.C. Schymick, S.W. Scholz, H.C. Fung, A. Britton, S. Arepalli, J.R. Gibbs, F. Lombardo, M. Matarin, D. Kasperaviciute, D.G. Hernandez, C. Crews, L. Bruijn, J. Rothstein, G. Mora, G. Restagno, A. Chiò, A. Singleton, J. Hardy, and B.J. Traynor Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data Lancet Neurol. 6 4 2007 322 328
-
(2007)
Lancet Neurol.
, vol.6
, Issue.4
, pp. 322-328
-
-
Schymick, J.C.1
Scholz, S.W.2
Fung, H.C.3
Britton, A.4
Arepalli, S.5
Gibbs, J.R.6
Lombardo, F.7
Matarin, M.8
Kasperaviciute, D.9
Hernandez, D.G.10
Crews, C.11
Bruijn, L.12
Rothstein, J.13
Mora, G.14
Restagno, G.15
Chiò, A.16
Singleton, A.17
Hardy, J.18
Traynor, B.J.19
-
169
-
-
77956877621
-
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: A genome-wide association study
-
A. Shatunov, K. Mok, S. Newhouse, M.E. Weale, B. Smith, C. Vance, L. Johnson, J.H. Veldink, M.A. van Es, L.H. van den Berg, W. Robberecht, P. Van Damme, O. Hardiman, A.E. Farmer, C.M. Lewis, A.W. Butler, O. Abel, P.M. Andersen, I. Fogh, V. Silani, A. Chiò, B.J. Traynor, J. Melki, V. Meininger, J.E. Landers, P. McGuffin, J.D. Glass, H. Pall, P.N. Leigh, J. Hardy, R.H. Brown Jr., J.F. Powell, R.W. Orrell, K.E. Morrison, P.J. Shaw, C.E. Shaw, and A. Al-Chalabi Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study Lancet Neurol. 9 10 2010 986 994
-
(2010)
Lancet Neurol.
, vol.9
, Issue.10
, pp. 986-994
-
-
Shatunov, A.1
Mok, K.2
Newhouse, S.3
Weale, M.E.4
Smith, B.5
Vance, C.6
Johnson, L.7
Veldink, J.H.8
Van Es, M.A.9
Van Den Berg, L.H.10
Robberecht, W.11
Van Damme, P.12
Hardiman, O.13
Farmer, A.E.14
Lewis, C.M.15
Butler, A.W.16
Abel, O.17
Andersen, P.M.18
Fogh, I.19
Silani, V.20
Chiò, A.21
Traynor, B.J.22
Melki, J.23
Meininger, V.24
Landers, J.E.25
McGuffin, P.26
Glass, J.D.27
Pall, H.28
Leigh, P.N.29
Hardy, J.30
Brown, Jr.R.H.31
Powell, J.F.32
Orrell, R.W.33
Morrison, K.E.34
Shaw, P.J.35
Shaw, C.E.36
Al-Chalabi, A.37
more..
-
170
-
-
67651173029
-
Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization
-
S.A. Shoichet, S. Waibel, S. Endruhn, A.D. Sperfeld, B. Vorwerk, I. Müller, F. Erdogan, A.C. Ludolph, H.H. Ropers, and R. Ullmann Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization Amyotroph. Lateral Scler. 10 3 2009 162 169
-
(2009)
Amyotroph. Lateral Scler.
, vol.10
, Issue.3
, pp. 162-169
-
-
Shoichet, S.A.1
Waibel, S.2
Endruhn, S.3
Sperfeld, A.D.4
Vorwerk, B.5
Müller, I.6
Erdogan, F.7
Ludolph, A.C.8
Ropers, H.H.9
Ullmann, R.10
-
171
-
-
58749097964
-
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
-
C.L. Simpson, R. Lemmens, K. Miskiewicz, W.J. Broom, V.K. Hansen, P.W. van Vught, J.E. Landers, P. Sapp, L. Van Den Bosch, J. Knight, B.M. Neale, M.R. Turner, J.H. Veldink, R.A. Ophoff, V.B. Tripathi, A. Beleza, M.N. Shah, P. Proitsi, A. Van Hoecke, P. Carmeliet, H.R. Horvitz, P.N. Leigh, C.E. Shaw, L.H. van den Berg, P.C. Sham, J.F. Powell, P. Verstreken, R.H. Brown Jr., W. Robberecht, and A. Al-Chalabi Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration Hum. Mol. Genet. 18 3 2009 472 481
-
(2009)
Hum. Mol. Genet.
, vol.18
, Issue.3
, pp. 472-481
-
-
Simpson, C.L.1
Lemmens, R.2
Miskiewicz, K.3
Broom, W.J.4
Hansen, V.K.5
Van Vught, P.W.6
Landers, J.E.7
Sapp, P.8
Van Den Bosch, L.9
Knight, J.10
Neale, B.M.11
Turner, M.R.12
Veldink, J.H.13
Ophoff, R.A.14
Tripathi, V.B.15
Beleza, A.16
Shah, M.N.17
Proitsi, P.18
Van Hoecke, A.19
Carmeliet, P.20
Horvitz, H.R.21
Leigh, P.N.22
Shaw, C.E.23
Van Den Berg, L.H.24
Sham, P.C.25
Powell, J.F.26
Verstreken, P.27
Brown, Jr.R.H.28
Robberecht, W.29
Al-Chalabi, A.30
more..
-
172
-
-
77956788631
-
Towards a complete resolution of the genetic architecture of disease
-
A.B. Singleton, J. Hardy, B.J. Traynor, and H. Houlden Towards a complete resolution of the genetic architecture of disease Trends Genet. 26 10 2010 438 442
-
(2010)
Trends Genet.
, vol.26
, Issue.10
, pp. 438-442
-
-
Singleton, A.B.1
Hardy, J.2
Traynor, B.J.3
Houlden, H.4
-
173
-
-
42049120518
-
Progranulin genetic variability contributes to amyotrophic lateral sclerosis
-
K. Sleegers, N. Brouwers, S. Maurer-Stroh, M.A. van Es, P. Van Damme, P.W. van Vught, J. van der Zee, S. Serneels, T. De Pooter, M. Van den Broeck, M. Cruts, J. Schymkowitz, P. De Jonghe, F. Rousseau, L.H. van den Berg, W. Robberecht, and C. Van Broeckhoven Progranulin genetic variability contributes to amyotrophic lateral sclerosis Neurology 71 4 2008 253 259
-
(2008)
Neurology
, vol.71
, Issue.4
, pp. 253-259
-
-
Sleegers, K.1
Brouwers, N.2
Maurer-Stroh, S.3
Van Es, M.A.4
Van Damme, P.5
Van Vught, P.W.6
Van Der Zee, J.7
Serneels, S.8
De Pooter, T.9
Van Den Broeck, M.10
Cruts, M.11
Schymkowitz, J.12
De Jonghe, P.13
Rousseau, F.14
Van Den Berg, L.H.15
Robberecht, W.16
Van Broeckhoven, C.17
-
174
-
-
41149180753
-
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
-
J. Sreedharan, I.P. Blair, V.B. Tripathi, X. Hu, C. Vance, B. Rogelj, S. Ackerley, J.C. Durnall, K.L. Williams, E. Buratti, F. Baralle, J. de Belleroche, J.D. Mitchell, P.N. Leigh, A. Al-Chalabi, C.C. Miller, G. Nicholson, and C.E. Shaw TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis Science 319 5870 2008 1668 1672
-
(2008)
Science
, vol.319
, Issue.5870
, pp. 1668-1672
-
-
Sreedharan, J.1
Blair, I.P.2
Tripathi, V.B.3
Hu, X.4
Vance, C.5
Rogelj, B.6
Ackerley, S.7
Durnall, J.C.8
Williams, K.L.9
Buratti, E.10
Baralle, F.11
De Belleroche, J.12
Mitchell, J.D.13
Leigh, P.N.14
Al-Chalabi, A.15
Miller, C.C.16
Nicholson, G.17
Shaw, C.E.18
-
175
-
-
80051570216
-
Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population
-
(e9-10)
-
K. Sugihara, H. Maruyama, M. Kamada, H. Morino, and H. Kawakami Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population Neurobiol. Aging 32 10 2011 1923 (e9-10)
-
(2011)
Neurobiol. Aging
, vol.32
, Issue.10
, pp. 1923
-
-
Sugihara, K.1
Maruyama, H.2
Kamada, M.3
Morino, H.4
Kawakami, H.5
-
176
-
-
84870881192
-
ZNF512B gene is a prognostic factor in patients with amyotrophic lateral sclerosis
-
S. Tetsuka, M. Morita, A. Iida, R. Uehara, S. Ikegawa, and I. Nakano ZNF512B gene is a prognostic factor in patients with amyotrophic lateral sclerosis J. Neurol. Sci. 324 1-2 2013 163 166
-
(2013)
J. Neurol. Sci.
, vol.324
, Issue.12
, pp. 163-166
-
-
Tetsuka, S.1
Morita, M.2
Iida, A.3
Uehara, R.4
Ikegawa, S.5
Nakano, I.6
-
177
-
-
84876533723
-
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: Genetics and neuropathology
-
E. Teyssou, T. Takeda, V. Lebon, S. Boillée, B. Doukouré, G. Bataillon, V. Sazdovitch, C. Cazeneuve, V. Meininger, E. LeGuern, F. Salachas, D. Seilhean, and S. Millecamps Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology Acta Neuropathol. 125 4 2013 511 522
-
(2013)
Acta Neuropathol.
, vol.125
, Issue.4
, pp. 511-522
-
-
Teyssou, E.1
Takeda, T.2
Lebon, V.3
Boillée, S.4
Doukouré, B.5
Bataillon, G.6
Sazdovitch, V.7
Cazeneuve, C.8
Meininger, V.9
Leguern, E.10
Salachas, F.11
Seilhean, D.12
Millecamps, S.13
-
178
-
-
77955445286
-
Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients
-
B.J. Traynor, M. Nalls, S.L. Lai, R.J. Gibbs, J.C. Schymick, S. Arepalli, D. Hernandez, M.P. van der Brug, J.O. Johnson, A. Dillman, M. Cookson, C. Moglia, A. Calvo, G. Restagno, G. Mora, and A. Chiò Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients Proc. Natl. Acad. Sci. U.S.A 107 27 2010 12335 12338
-
(2010)
Proc. Natl. Acad. Sci. U.S.A
, vol.107
, Issue.27
, pp. 12335-12338
-
-
Traynor, B.J.1
Nalls, M.2
Lai, S.L.3
Gibbs, R.J.4
Schymick, J.C.5
Arepalli, S.6
Hernandez, D.7
Van Der Brug, M.P.8
Johnson, J.O.9
Dillman, A.10
Cookson, M.11
Moglia, C.12
Calvo, A.13
Restagno, G.14
Mora, G.15
Chiò, A.16
-
179
-
-
79952900459
-
FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS
-
(e13-21)
-
C.P. Tsai, B.W. Soong, K.P. Lin, P.H. Tu, J.L. Lin, and Y.C. Lee FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS Neurobiol. Aging 32 3 2011 553 (e13-21)
-
(2011)
Neurobiol. Aging
, vol.32
, Issue.3
, pp. 553
-
-
Tsai, C.P.1
Soong, B.W.2
Lin, K.P.3
Tu, P.H.4
Lin, J.L.5
Lee, Y.C.6
-
180
-
-
84883124262
-
Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: Deletion of EPHA3 is a possible protective factor
-
(e72381)
-
Ö. Uyan, Ö. Ömür, ZS. AʇIm, A. Özoʇuz, H. Li, Y. Parman, F. Deymeer, P. Oflazer, F. Koç, E. Tan, H. O'Elik, and A.N. Başak Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor PLoS One 8 8 2013 (e72381)
-
(2013)
PLoS One
, vol.8
, Issue.8
-
-
Uyan, O.1
Ömür, O.2
Aʇim, Z.S.3
Özoʇuz, A.4
Li, H.5
Parman, Y.6
Deymeer, F.7
Oflazer, P.8
Koç, F.9
Tan, E.10
O'Elik, H.11
Başak, A.N.12
-
181
-
-
84865071988
-
Evidence for an oligogenic basis of amyotrophic lateral sclerosis
-
M. van Blitterswijk, M.A. van Es, E.A. Hennekam, D. Dooijes, W. van Rheenen, J. Medic, P.R. Bourque, H.J. Schelhaas, A.J. van der Kooi, M. de Visser, P.I. de Bakker, J.H. Veldink, and L.H. van den Berg Evidence for an oligogenic basis of amyotrophic lateral sclerosis Hum. Mol. Genet. 21 17 2012 3776 3784
-
(2012)
Hum. Mol. Genet.
, vol.21
, Issue.17
, pp. 3776-3784
-
-
Van Blitterswijk, M.1
Van Es, M.A.2
Hennekam, E.A.3
Dooijes, D.4
Van Rheenen, W.5
Medic, J.6
Bourque, P.R.7
Schelhaas, H.J.8
Van Der Kooi, A.J.9
De Visser, M.10
De Bakker, P.I.11
Veldink, J.H.12
Van Den Berg, L.H.13
-
182
-
-
79959653680
-
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
-
P. Van Damme, J.H. Veldink, M. van Blitterswijk, A. Corveleyn, P.W. van Vught, V. Thijs, B. Dubois, G. Matthijs, L.H. van den Berg, and W. Robberecht Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2 Neurology 76 24 2011 2066 2072
-
(2011)
Neurology
, vol.76
, Issue.24
, pp. 2066-2072
-
-
Van Damme, P.1
Veldink, J.H.2
Van Blitterswijk, M.3
Corveleyn, A.4
Van Vught, P.W.5
Thijs, V.6
Dubois, B.7
Matthijs, G.8
Van Den Berg, L.H.9
Robberecht, W.10
-
183
-
-
34548646702
-
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: A genome-wide association study
-
M.A. van Es, P.W. Van Vught, H.M. Blauw, L. Franke, C.G. Saris, P.M. Andersen, L. Van Den Bosch, S.W. de Jong, R. van't Slot, A. Birve, R. Lemmens, V. de Jong, F. Baas, H.J. Schelhaas, K. Sleegers, C. Van Broeckhoven, J.H. Wokke, C. Wijmenga, W. Robberecht, J.H. Veldink, R.A. Ophoff, and L.H. van den Berg ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study Lancet Neurol. 6 10 2007 869 877
-
(2007)
Lancet Neurol.
, vol.6
, Issue.10
, pp. 869-877
-
-
Van Es, M.A.1
Van Vught, P.W.2
Blauw, H.M.3
Franke, L.4
Saris, C.G.5
Andersen, P.M.6
Van Den Bosch, L.7
De Jong, S.W.8
Van'T Slot, R.9
Birve, A.10
Lemmens, R.11
De Jong, V.12
Baas, F.13
Schelhaas, H.J.14
Sleegers, K.15
Van Broeckhoven, C.16
Wokke, J.H.17
Wijmenga, C.18
Robberecht, W.19
Veldink, J.H.20
Ophoff, R.A.21
Van Den Berg, L.H.22
more..
-
184
-
-
37549062995
-
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
-
MA. van Es, P.W. van Vught, H.M. Blauw, L. Franke, C.G. Saris, L. Van den Bosch, S.W. de Jong, V. de Jong, F. Baas, R. van't Slot, R. Lemmens, H.J. Schelhaas, A. Birve, K. Sleegers, C. Van Broeckhoven, J.C. Schymick, B.J. Traynor, J.H. Wokke, C. Wijmenga, W. Robberecht, P.M. Andersen, J.H. Veldink, R.A. Ophoff, and L.H. van den Berg Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis Nat. Genet. 40 1 2008 29 31
-
(2008)
Nat. Genet.
, vol.40
, Issue.1
, pp. 29-31
-
-
Van Es, M.A.1
Van Vught, P.W.2
Blauw, H.M.3
Franke, L.4
Saris, C.G.5
Van Den Bosch, L.6
De Jong, S.W.7
De Jong, V.8
Baas, F.9
Van'T Slot, R.10
Lemmens, R.11
Schelhaas, H.J.12
Birve, A.13
Sleegers, K.14
Van Broeckhoven, C.15
Schymick, J.C.16
Traynor, B.J.17
Wokke, J.H.18
Wijmenga, C.19
Robberecht, W.20
Andersen, P.M.21
Veldink, J.H.22
Ophoff, R.A.23
Van Den Berg, L.H.24
more..
-
185
-
-
70349592269
-
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
-
M.A. van Es, J.H. Veldink, C.G. Saris, H.M. Blauw, P.W. van Vught, A. Birve, R. Lemmens, H.J. Schelhaas, E.J. Groen, M.H. Huisman, A.J. van der Kooi, M. de Visser, C. Dahlberg, K. Estrada, F. Rivadeneira, A. Hofman, M.J. Zwarts, P.T. van Doormaal, D. Rujescu, E. Strengman, I. Giegling, P. Muglia, B. Tomik, A. Slowik, A.G. Uitterlinden, C. Hendrich, S. Waibel, T. Meyer, A.C. Ludolph, J.D. Glass, S. Purcell, S. Cichon, M.M. Nöthen, H.E. Wichmann, S. Schreiber, S.H. Vermeulen, L.A. Kiemeney, J.H. Wokke, S. Cronin, R.L. McLaughlin, O. Hardiman, K. Fumoto, R.J. Pasterkamp, V. Meininger, J. Melki, P.N. Leigh, CE. Shaw, J.E. Landers, A. Al-Chalabi, R.H. Brown Jr., W. Robberecht, P.M. Andersen, R.A. Ophoff, and L.H. van den Berg Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis Nat. Genet. 41 10 2009 1083 1087
-
(2009)
Nat. Genet.
, vol.41
, Issue.10
, pp. 1083-1087
-
-
Van Es, M.A.1
Veldink, J.H.2
Saris, C.G.3
Blauw, H.M.4
Van Vught, P.W.5
Birve, A.6
Lemmens, R.7
Schelhaas, H.J.8
Groen, E.J.9
Huisman, M.H.10
Van Der Kooi, A.J.11
De Visser, M.12
Dahlberg, C.13
Estrada, K.14
Rivadeneira, F.15
Hofman, A.16
Zwarts, M.J.17
Van Doormaal, P.T.18
Rujescu, D.19
Strengman, E.20
Giegling, I.21
Muglia, P.22
Tomik, B.23
Slowik, A.24
Uitterlinden, A.G.25
Hendrich, C.26
Waibel, S.27
Meyer, T.28
Ludolph, A.C.29
Glass, J.D.30
Purcell, S.31
Cichon, S.32
Nöthen, M.M.33
Wichmann, H.E.34
Schreiber, S.35
Vermeulen, S.H.36
Kiemeney, L.A.37
Wokke, J.H.38
Cronin, S.39
McLaughlin, R.L.40
Hardiman, O.41
Fumoto, K.42
Pasterkamp, R.J.43
Meininger, V.44
Melki, J.45
Leigh, P.N.46
Shaw, C.E.47
Landers, J.E.48
Al-Chalabi, A.49
Brown, Jr.R.H.50
Robberecht, W.51
Andersen, P.M.52
Ophoff, R.A.53
Van Den Berg, L.H.54
more..
-
186
-
-
84868656581
-
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
-
A. Van Hoecke, L. Schoonaert, R. Lemmens, M. Timmers, K.A. Staats, A.S. Laird, E. Peeters, T. Philips, A. Goris, B. Dubois, P.M. Andersen, A. Al-Chalabi, V. Thijs, A.M. Turnley, P.W. van Vught, J.H. Veldink, O. Hardiman, L. Van Den Bosch, P. Gonzalez-Perez, P. Van Damme, R.H. Brown Jr., L.H. van den Berg, and W Robberecht EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans Nat. Med 18 9 2012 1418 1422
-
(2012)
Nat. Med
, vol.18
, Issue.9
, pp. 1418-1422
-
-
Van Hoecke, A.1
Schoonaert, L.2
Lemmens, R.3
Timmers, M.4
Staats, K.A.5
Laird, A.S.6
Peeters, E.7
Philips, T.8
Goris, A.9
Dubois, B.10
Andersen, P.M.11
Al-Chalabi, A.12
Thijs, V.13
Turnley, A.M.14
Van Vught, P.W.15
Veldink, J.H.16
Hardiman, O.17
Van Den Bosch, L.18
Gonzalez-Perez, P.19
Van Damme, P.20
Brown, Jr.R.H.21
Van Den Berg, L.H.22
Robberecht, W.23
more..
-
187
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
C. Vance, B. Rogelj, T. Hortobágyi, K.J. De Vos, A.L. Nishimura, J. Sreedharan, X. Hu, B. Smith, D. Ruddy, P. Wright, J. Ganesalingam, K.L. Williams, V. Tripathi, S. Al-Saraj, A. Al-Chalabi, P.N. Leigh, I.P. Blair, G. Nicholson, J. de Belleroche, J.M. Gallo, C.C. Miller, and C.E. Shaw Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6 Science 323 5918 2009 1208 1211
-
(2009)
Science
, vol.323
, Issue.5918
, pp. 1208-1211
-
-
Vance, C.1
Rogelj, B.2
Hortobágyi, T.3
De Vos, K.J.4
Nishimura, A.L.5
Sreedharan, J.6
Hu, X.7
Smith, B.8
Ruddy, D.9
Wright, P.10
Ganesalingam, J.11
Williams, K.L.12
Tripathi, V.13
Al-Saraj, S.14
Al-Chalabi, A.15
Leigh, P.N.16
Blair, I.P.17
Nicholson, G.18
De Belleroche, J.19
Gallo, J.M.20
Miller, C.C.21
Shaw, C.E.22
more..
-
188
-
-
78649484216
-
A de novo paradigm for mental retardation
-
L.E. Vissers, J. de Ligt, C. Gilissen, I. Janssen, M. Steehouwer, P. de Vries, B. van Lier, P. Arts, N. Wieskamp, M. del Rosario, B.W. van Bon, A. Hoischen, B.B. de Vries, H.G. Brunner, and J.A. Veltman A de novo paradigm for mental retardation Nat. Genet. 42 12 2010 1109 1112
-
(2010)
Nat. Genet.
, vol.42
, Issue.12
, pp. 1109-1112
-
-
Vissers, L.E.1
De Ligt, J.2
Gilissen, C.3
Janssen, I.4
Steehouwer, M.5
De Vries, P.6
Van Lier, B.7
Arts, P.8
Wieskamp, N.9
Del Rosario, M.10
Van Bon, B.W.11
Hoischen, A.12
De Vries, B.B.13
Brunner, H.G.14
Veltman, J.A.15
-
189
-
-
77949529252
-
The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: Genome-wide association study and comparison with published loci
-
L.V. Wain, I. Pedroso, J.E. Landers, G. Breen, C.E. Shaw, P.N. Leigh, R.H. Brown, M.D. Tobin, and A. Al-Chalabi The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci PLoS One 4 12 2009 e8175
-
(2009)
PLoS One
, vol.4
, Issue.12
, pp. e8175
-
-
Wain, L.V.1
Pedroso, I.2
Landers, J.E.3
Breen, G.4
Shaw, C.E.5
Leigh, P.N.6
Brown, R.H.7
Tobin, M.D.8
Al-Chalabi, A.9
-
190
-
-
84899984949
-
SMN1 duplications contribute to sporadic amyotrophic lateral sclerosis susceptibility: Evidence from a meta-analysis
-
X.B. Wang, N.H. Cui, J.J. Gao, X.P. Qiu, and F. Zheng SMN1 duplications contribute to sporadic amyotrophic lateral sclerosis susceptibility: evidence from a meta-analysis J. Neurol. Sci. 340 1-2 2014 63 68
-
(2014)
J. Neurol. Sci.
, vol.340
, Issue.12
, pp. 63-68
-
-
Wang, X.B.1
Cui, N.H.2
Gao, J.J.3
Qiu, X.P.4
Zheng, F.5
-
191
-
-
68249141410
-
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS
-
A.M. Wills, S. Cronin, A. Slowik, D. Kasperaviciute, M.A. Van Es, J.M. Morahan, P.N. Valdmanis, V. Meininger, J. Melki, C.E. Shaw, G.A. Rouleau, E.M. Fisher, P.J. Shaw, K.E. Morrison, R. Pamphlett, L.H. Van den Berg, D.A. Figlewicz, P.M. Andersen, A. Al-Chalabi, O. Hardiman, S. Purcell, J.E. Landers, and R.H. Brown Jr. A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS Neurology 73 1 2009 16 24
-
(2009)
Neurology
, vol.73
, Issue.1
, pp. 16-24
-
-
Wills, A.M.1
Cronin, S.2
Slowik, A.3
Kasperaviciute, D.4
Van Es, M.A.5
Morahan, J.M.6
Valdmanis, P.N.7
Meininger, V.8
Melki, J.9
Shaw, C.E.10
Rouleau, G.A.11
Fisher, E.M.12
Shaw, P.J.13
Morrison, K.E.14
Pamphlett, R.15
Van Den Berg, L.H.16
Figlewicz, D.A.17
Andersen, P.M.18
Al-Chalabi, A.19
Hardiman, O.20
Purcell, S.21
Landers, J.E.22
Brown, Jr.R.H.23
more..
-
192
-
-
84865235172
-
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
-
C.H. Wu, C. Fallini, N. Ticozzi, P.J. Keagle, P.C. Sapp, K. Piotrowska, P. Lowe, M. Koppers, D. McKenna-Yasek, D.M. Baron, J.E. Kost, P. Gonzalez-Perez, A.D. Fox, J. Adams, F. Taroni, C. Tiloca, A.L. Leclerc, S.C. Chafe, D. Mangroo, M.J. Moore, J.A. Zitzewitz, Z.S. Xu, L.H. van den Berg, J.D. Glass, G. Siciliano, E.T. Cirulli, D.B. Goldstein, F. Salachas, V. Meininger, W. Rossoll, A. Ratti, C. Gellera, D.A. Bosco, G.J. Bassell, V. Silani, V.E. Drory, R.H. Brown Jr., and J.E. Landers Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis Nature 488 7412 2012 499 503
-
(2012)
Nature
, vol.488
, Issue.7412
, pp. 499-503
-
-
Wu, C.H.1
Fallini, C.2
Ticozzi, N.3
Keagle, P.J.4
Sapp, P.C.5
Piotrowska, K.6
Lowe, P.7
Koppers, M.8
McKenna-Yasek, D.9
Baron, D.M.10
Kost, J.E.11
Gonzalez-Perez, P.12
Fox, A.D.13
Adams, J.14
Taroni, F.15
Tiloca, C.16
Leclerc, A.L.17
Chafe, S.C.18
Mangroo, D.19
Moore, M.J.20
Zitzewitz, J.A.21
Xu, Z.S.22
Van Den Berg, L.H.23
Glass, J.D.24
Siciliano, G.25
Cirulli, E.T.26
Goldstein, D.B.27
Salachas, F.28
Meininger, V.29
Rossoll, W.30
Ratti, A.31
Gellera, C.32
Bosco, D.A.33
Bassell, G.J.34
Silani, V.35
Drory, V.E.36
Brown, Jr.R.H.37
Landers, J.E.38
more..
-
193
-
-
85058204934
-
A genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations
-
(Jan 17 [Epub ahead of print])
-
T. Xie, L. Deng, P. Mei, Y. Zhou, B. Wang, J. Zhang, J. Lin, Y. Wei, X. Zhang, and R. Xu A genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations Neurobiol. Aging 2014 (Jan 17 [Epub ahead of print])
-
(2014)
Neurobiol. Aging
-
-
Xie, T.1
Deng, L.2
Mei, P.3
Zhou, Y.4
Wang, B.5
Zhang, J.6
Lin, J.7
Wei, Y.8
Zhang, X.9
Xu, R.10
-
194
-
-
80052273655
-
Exome sequencing supports a de novo mutational paradigm for schizophrenia
-
B. Xu, J.L. Roos, P. Dexheimer, B. Boone, B. Plummer, S. Levy, J.A. Gogos, and M. Karayiorgou Exome sequencing supports a de novo mutational paradigm for schizophrenia Nat. Genet. 43 9 2011 864 868
-
(2011)
Nat. Genet.
, vol.43
, Issue.9
, pp. 864-868
-
-
Xu, B.1
Roos, J.L.2
Dexheimer, P.3
Boone, B.4
Plummer, B.5
Levy, S.6
Gogos, J.A.7
Karayiorgou, M.8
-
195
-
-
77956357112
-
Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia
-
J. Yan, H.X. Deng, N. Siddique, F. Fecto, W. Chen, Y. Yang, E. Liu, S. Donkervoort, J.G. Zheng, Y. Shi, K.B. Ahmeti, B. Brooks, W.K. Engel, and T. Siddique Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia Neurology 75 9 2010 807 814
-
(2010)
Neurology
, vol.75
, Issue.9
, pp. 807-814
-
-
Yan, J.1
Deng, H.X.2
Siddique, N.3
Fecto, F.4
Chen, W.5
Yang, Y.6
Liu, E.7
Donkervoort, S.8
Zheng, J.G.9
Shi, Y.10
Ahmeti, K.B.11
Brooks, B.12
Engel, W.K.13
Siddique, T.14
-
196
-
-
50049096429
-
Association of APOE with age at onset of sporadic amyotrophic lateral sclerosis
-
H. Zetterberg, J. Jacobsson, L. Rosengren, K. Blennow, and P.M. Andersen Association of APOE with age at onset of sporadic amyotrophic lateral sclerosis J. Neurol. Sci. 273 1-2 2008 67 69
-
(2008)
J. Neurol. Sci.
, vol.273
, Issue.12
, pp. 67-69
-
-
Zetterberg, H.1
Jacobsson, J.2
Rosengren, L.3
Blennow, K.4
Andersen, P.M.5
-
197
-
-
84875241102
-
Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients
-
(e5-6)
-
Z.Y. Zou, X.G. Li, M.S. Liu, and L.Y. Cui Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients Neurobiol. Aging 34 6 2013 1710 (e5-6)
-
(2013)
Neurobiol. Aging
, vol.34
, Issue.6
, pp. 1710
-
-
Zou, Z.Y.1
Li, X.G.2
Liu, M.S.3
Cui, L.Y.4
-
198
-
-
84872327415
-
De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China
-
(e1-8)
-
Z.Y. Zou, L.Y. Cui, Q. Sun, X.G. Li, M.S. Liu, Y. Xu, Y. Zhou, and X.Z. Yang De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China Neurobiol. Aging 34 4 2013 1312 (e1-8)
-
(2013)
Neurobiol. Aging
, vol.34
, Issue.4
, pp. 1312
-
-
Zou, Z.Y.1
Cui, L.Y.2
Sun, Q.3
Li, X.G.4
Liu, M.S.5
Xu, Y.6
Zhou, Y.7
Yang, X.Z.8
|