-
1
-
-
37749020600
-
Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues
-
Logroscino G., Traynor B.J., Hardiman O., Chio A., Couratier P., Mitchell J.D., Swingler R.J., Beghi E. Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues. J. Neurol. Neurosurg. Psychiatry 2008, 79:6-11.
-
(2008)
J. Neurol. Neurosurg. Psychiatry
, vol.79
, pp. 6-11
-
-
Logroscino, G.1
Traynor, B.J.2
Hardiman, O.3
Chio, A.4
Couratier, P.5
Mitchell, J.D.6
Swingler, R.J.7
Beghi, E.8
-
2
-
-
0034574407
-
El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis
-
Brooks B.R., Miller R.G., Swash M., Munsat T.L. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. Other Motor Neuron Disord. 2000, 1:293-299.
-
(2000)
Amyotroph. Lateral Scler. Other Motor Neuron Disord.
, vol.1
, pp. 293-299
-
-
Brooks, B.R.1
Miller, R.G.2
Swash, M.3
Munsat, T.L.4
-
3
-
-
84867521307
-
Amyotrophic lateral sclerosis, frontotemporal lobar dementia, and p62: a functional convergence?
-
Appel S.H., Rowland L.P. Amyotrophic lateral sclerosis, frontotemporal lobar dementia, and p62: a functional convergence?. Neurology 2012, 79:1526-1527.
-
(2012)
Neurology
, vol.79
, pp. 1526-1527
-
-
Appel, S.H.1
Rowland, L.P.2
-
4
-
-
0024334904
-
Linkage analysis in familial amyotrophic lateral sclerosis
-
Siddique T., Pericak-Vance M.A., Brooks B.R., Roos R.P., Hung W.Y., Antel J.P., Munsat T.L., Phillips K., Warner K., Speer M., et al. Linkage analysis in familial amyotrophic lateral sclerosis. Neurology 1989, 39:919-925.
-
(1989)
Neurology
, vol.39
, pp. 919-925
-
-
Siddique, T.1
Pericak-Vance, M.A.2
Brooks, B.R.3
Roos, R.P.4
Hung, W.Y.5
Antel, J.P.6
Munsat, T.L.7
Phillips, K.8
Warner, K.9
Speer, M.10
-
5
-
-
12044249765
-
Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity
-
Siddique T., Figlewicz D.A., Pericak-Vance M.A., Haines J.L., Rouleau G., Jeffers A.J., Sapp P., Hung W.Y., Bebout J., McKenna-Yasek D., et al. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N. Engl. J. Med. 1991, 324:1381-1384.
-
(1991)
N. Engl. J. Med.
, vol.324
, pp. 1381-1384
-
-
Siddique, T.1
Figlewicz, D.A.2
Pericak-Vance, M.A.3
Haines, J.L.4
Rouleau, G.5
Jeffers, A.J.6
Sapp, P.7
Hung, W.Y.8
Bebout, J.9
McKenna-Yasek, D.10
-
6
-
-
0027401203
-
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
-
Rosen D.R., Siddique T., Patterson D., Figlewicz D.A., Sapp P., Hentati A., Donaldson D., Goto J., O'Regan J.P., Deng H.X., et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993, 362:59-62.
-
(1993)
Nature
, vol.362
, 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
-
7
-
-
0027426169
-
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase
-
Deng H.X., Hentati A., Tainer J.A., Iqbal Z., Cayabyab A., Hung W.Y., Getzoff E.D., Hu P., Herzfeldt B., Roos R.P., et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 1993, 261:1047-1051.
-
(1993)
Science
, vol.261
, pp. 1047-1051
-
-
Deng, H.X.1
Hentati, A.2
Tainer, J.A.3
Iqbal, Z.4
Cayabyab, A.5
Hung, W.Y.6
Getzoff, E.D.7
Hu, P.8
Herzfeldt, B.9
Roos, R.P.10
-
8
-
-
0031057003
-
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
-
Cudkowicz M.E., McKenna-Yasek D., Sapp P.E., Chin W., Geller B., Hayden D.L., Schoenfeld D.A., Hosler B.A., Horvitz H.R., Brown R.H. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann. Neurol. 1997, 41:210-221.
-
(1997)
Ann. Neurol.
, vol.41
, pp. 210-221
-
-
Cudkowicz, M.E.1
McKenna-Yasek, D.2
Sapp, P.E.3
Chin, W.4
Geller, B.5
Hayden, D.L.6
Schoenfeld, D.A.7
Hosler, B.A.8
Horvitz, H.R.9
Brown, R.H.10
-
9
-
-
0028284779
-
Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
-
Gurney M.E., Pu H., Chiu A.Y., Dal Canto M.C., Polchow C.Y., Alexander D.D., Caliendo J., Hentati A., Kwon Y.W., Deng H.X., et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 1994, 264:1772-1775.
-
(1994)
Science
, vol.264
, pp. 1772-1775
-
-
Gurney, M.E.1
Pu, H.2
Chiu, A.Y.3
Dal Canto, M.C.4
Polchow, C.Y.5
Alexander, D.D.6
Caliendo, J.7
Hentati, A.8
Kwon, Y.W.9
Deng, H.X.10
-
10
-
-
33646466296
-
Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria
-
Deng H.X., Shi Y., Furukawa Y., Zhai H., Fu R., Liu E., Gorrie G.H., Khan M.S., Hung W.Y., Bigio E.H., Lukas T., Dal Canto M.C., O'Halloran T.V., Siddique T. Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria. Proc. Natl. Acad. Sci. U. S. A. 2006, 103:7142-7147.
-
(2006)
Proc. Natl. Acad. Sci. U. S. A.
, vol.103
, pp. 7142-7147
-
-
Deng, H.X.1
Shi, Y.2
Furukawa, Y.3
Zhai, H.4
Fu, R.5
Liu, E.6
Gorrie, G.H.7
Khan, M.S.8
Hung, W.Y.9
Bigio, E.H.10
Lukas, T.11
Dal Canto, M.C.12
O'Halloran, T.V.13
Siddique, T.14
-
11
-
-
0028933344
-
Neuropathological changes in two lines of mice carrying a transgene for mutant human Cu, Zn SOD, and in mice overexpressing wild type human SOD: a model of familial amyotrophic lateral sclerosis (FALS)
-
Dal Canto M.C., Gurney M.E. Neuropathological changes in two lines of mice carrying a transgene for mutant human Cu, Zn SOD, and in mice overexpressing wild type human SOD: a model of familial amyotrophic lateral sclerosis (FALS). Brain Res. 1995, 676:25-40.
-
(1995)
Brain Res.
, vol.676
, pp. 25-40
-
-
Dal Canto, M.C.1
Gurney, M.E.2
-
12
-
-
0032544674
-
Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1
-
Bruijn L.I., Houseweart M.K., Kato S., Anderson K.L., Anderson S.D., Ohama E., Reaume A.G., Scott R.W., Cleveland D.W. Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1. Science 1998, 281:1851-1854.
-
(1998)
Science
, vol.281
, pp. 1851-1854
-
-
Bruijn, L.I.1
Houseweart, M.K.2
Kato, S.3
Anderson, K.L.4
Anderson, S.D.5
Ohama, E.6
Reaume, A.G.7
Scott, R.W.8
Cleveland, D.W.9
-
13
-
-
0029927679
-
Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement
-
Shibata N., Hirano A., Kobayashi M., Siddique T., Deng H.X., Hung W.Y., Kato T., Asayama K. Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement. J. Neuropathol. Exp. Neurol. 1996, 55:481-490.
-
(1996)
J. Neuropathol. Exp. Neurol.
, vol.55
, pp. 481-490
-
-
Shibata, N.1
Hirano, A.2
Kobayashi, M.3
Siddique, T.4
Deng, H.X.5
Hung, W.Y.6
Kato, T.7
Asayama, K.8
-
14
-
-
33646486372
-
Disulfide cross-linked protein represents a significant fraction of ALS-associated Cu, Zn-superoxide dismutase aggregates in spinal cords of model mice
-
Furukawa Y., Fu R., Deng H.X., Siddique T., O'Halloran T.V. Disulfide cross-linked protein represents a significant fraction of ALS-associated Cu, Zn-superoxide dismutase aggregates in spinal cords of model mice. Proc. Natl. Acad. Sci. U. S. A. 2006, 103:7148-7153.
-
(2006)
Proc. Natl. Acad. Sci. U. S. A.
, vol.103
, pp. 7148-7153
-
-
Furukawa, Y.1
Fu, R.2
Deng, H.X.3
Siddique, T.4
O'Halloran, T.V.5
-
15
-
-
34250177650
-
Wild-type superoxide dismutase acquires binding and toxic properties of ALS-linked mutant forms through oxidation
-
Ezzi S.A., Urushitani M., Julien J.P. Wild-type superoxide dismutase acquires binding and toxic properties of ALS-linked mutant forms through oxidation. J. Neurochem. 2007, 102:170-178.
-
(2007)
J. Neurochem.
, vol.102
, pp. 170-178
-
-
Ezzi, S.A.1
Urushitani, M.2
Julien, J.P.3
-
16
-
-
77958519939
-
Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS
-
Bosco D.A., Morfini G., Karabacak N.M., Song Y., Gros-Louis F., Pasinelli P., Goolsby H., Fontaine B.A., Lemay N., McKenna-Yasek D., Frosch M.P., Agar J.N., Julien J.P., Brady S.T., Brown R.H. Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS. Nat. Neurosci. 2010, 13:1396-1403.
-
(2010)
Nat. Neurosci.
, vol.13
, pp. 1396-1403
-
-
Bosco, D.A.1
Morfini, G.2
Karabacak, N.M.3
Song, Y.4
Gros-Louis, F.5
Pasinelli, P.6
Goolsby, H.7
Fontaine, B.A.8
Lemay, N.9
McKenna-Yasek, D.10
Frosch, M.P.11
Agar, J.N.12
Julien, J.P.13
Brady, S.T.14
Brown, R.H.15
-
17
-
-
84890890208
-
An emerging role for misfolded wild-type SOD1 in sporadic ALS pathogenesis
-
Rotunno M.S., Bosco D.A. An emerging role for misfolded wild-type SOD1 in sporadic ALS pathogenesis. Front. Cell. Neurosci. 2013, 7:253.
-
(2013)
Front. Cell. Neurosci.
, vol.7
, pp. 253
-
-
Rotunno, M.S.1
Bosco, D.A.2
-
18
-
-
0034785509
-
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
-
Yang Y., Hentati A., Deng H.X., Dabbagh O., Sasaki T., Hirano M., Hung W.Y., Ouahchi K., Yan J., Azim A.C., Cole N., Gascon G., Yagmour A., Ben-Hamida M., Pericak-Vance M., Hentati F., Siddique T. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat. Genet. 2001, 29:160-165.
-
(2001)
Nat. Genet.
, vol.29
, pp. 160-165
-
-
Yang, Y.1
Hentati, A.2
Deng, H.X.3
Dabbagh, O.4
Sasaki, T.5
Hirano, M.6
Hung, W.Y.7
Ouahchi, K.8
Yan, J.9
Azim, A.C.10
Cole, N.11
Gascon, G.12
Yagmour, A.13
Ben-Hamida, M.14
Pericak-Vance, M.15
Hentati, F.16
Siddique, T.17
-
19
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Neumann M., Sampathu D.M., Kwong L.K., Truax A.C., Micsenyi M.C., Chou T.T., Bruce J., Schuck T., Grossman M., Clark C.M., McCluskey L.F., Miller B.L., Masliah E., Mackenzie I.R., Feldman H., Feiden W., Kretzschmar H.A., Trojanowski J.Q., Lee V.M. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006, 314:130-133.
-
(2006)
Science
, vol.314
, 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
-
20
-
-
41149180753
-
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
-
Sreedharan J., Blair I.P., Tripathi V.B., Hu X., Vance C., Rogelj B., Ackerley S., Durnall J.C., Williams K.L., Buratti E., Baralle F., de Belleroche J., Mitchell J.D., Leigh P.N., Al-Chalabi A., Miller C.C., Nicholson G., Shaw C.E. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008, 319:1668-1672.
-
(2008)
Science
, vol.319
, 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
-
21
-
-
17144426507
-
Human, Drosophila, and C. elegans TDP43: nucleic acid binding properties and splicing regulatory function
-
Ayala Y.M., Pantano S., D'Ambrogio A., Buratti E., Brindisi A., Marchetti C., Romano M., Baralle F.E. Human, Drosophila, and C. elegans TDP43: nucleic acid binding properties and splicing regulatory function. J. Mol. Biol. 2005, 348:575-588.
-
(2005)
J. Mol. Biol.
, vol.348
, pp. 575-588
-
-
Ayala, Y.M.1
Pantano, S.2
D'Ambrogio, A.3
Buratti, E.4
Brindisi, A.5
Marchetti, C.6
Romano, M.7
Baralle, F.E.8
-
22
-
-
77957317483
-
The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation
-
Buratti E., Baralle F.E. The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation. RNA Biol. 2010, 7:420-429.
-
(2010)
RNA Biol.
, vol.7
, pp. 420-429
-
-
Buratti, E.1
Baralle, F.E.2
-
23
-
-
70349292075
-
Cytosolic TDP-43 expression following axotomy is associated with caspase 3 activation in NFL-/- mice: support for a role for TDP-43 in the physiological response to neuronal injury
-
Moisse K., Mepham J., Volkening K., Welch I., Hill T., Strong M.J. Cytosolic TDP-43 expression following axotomy is associated with caspase 3 activation in NFL-/- mice: support for a role for TDP-43 in the physiological response to neuronal injury. Brain Res. 2009, 1296:176-186.
-
(2009)
Brain Res.
, vol.1296
, pp. 176-186
-
-
Moisse, K.1
Mepham, J.2
Volkening, K.3
Welch, I.4
Hill, T.5
Strong, M.J.6
-
24
-
-
84893508018
-
Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations
-
Alami N.H., Smith R.B., Carrasco M.A., Williams L.A., Winborn C.S., Han S.S., Kiskinis E., Winborn B., Freibaum B.D., Kanagaraj A., Clare A.J., Badders N.M., Bilican B., Chaum E., Chandran S., Shaw C.E., Eggan K.C., Maniatis T., Taylor J.P. Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations. Neuron 2014, 81:536-543.
-
(2014)
Neuron
, vol.81
, pp. 536-543
-
-
Alami, N.H.1
Smith, R.B.2
Carrasco, M.A.3
Williams, L.A.4
Winborn, C.S.5
Han, S.S.6
Kiskinis, E.7
Winborn, B.8
Freibaum, B.D.9
Kanagaraj, A.10
Clare, A.J.11
Badders, N.M.12
Bilican, B.13
Chaum, E.14
Chandran, S.15
Shaw, C.E.16
Eggan, K.C.17
Maniatis, T.18
Taylor, J.P.19
-
25
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
Kwiatkowski T.J., Bosco D.A., Leclerc A.L., Tamrazian E., Vanderburg C.R., Russ C., Davis A., Gilchrist J., Kasarskis E.J., Munsat T., Valdmanis P., Rouleau G.A., Hosler B.A., Cortelli P., de Jong P.J., Yoshinaga Y., Haines J.L., Pericak-Vance M.A., Yan J., Ticozzi N., Siddique T., McKenna-Yasek D., Sapp P.C., Horvitz H.R., Landers J.E., Brown R.H. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009, 323:1205-1208.
-
(2009)
Science
, vol.323
, pp. 1205-1208
-
-
Kwiatkowski, 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, R.H.26
more..
-
26
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
Vance C., Rogelj B., Hortobagyi T., De Vos K.J., Nishimura A.L., Sreedharan J., Hu X., Smith B., Ruddy D., Wright P., Ganesalingam J., Williams K.L., Tripathi V., Al-Saraj S., Al-Chalabi A., Leigh P.N., Blair I.P., Nicholson G., de Belleroche J., Gallo J.M., Miller C.C., Shaw C.E. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009, 323:1208-1211.
-
(2009)
Science
, vol.323
, pp. 1208-1211
-
-
Vance, C.1
Rogelj, B.2
Hortobagyi, 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..
-
27
-
-
77952932485
-
FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis
-
Deng H.X., Zhai H., Bigio E.H., Yan J., Fecto F., Ajroud K., Mishra M., Ajroud-Driss S., Heller S., Sufit R., Siddique N., Mugnaini E., Siddique T. FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis. Ann. Neurol. 2010, 67:739-748.
-
(2010)
Ann. Neurol.
, vol.67
, pp. 739-748
-
-
Deng, H.X.1
Zhai, H.2
Bigio, E.H.3
Yan, J.4
Fecto, F.5
Ajroud, K.6
Mishra, M.7
Ajroud-Driss, S.8
Heller, S.9
Sufit, R.10
Siddique, N.11
Mugnaini, E.12
Siddique, T.13
-
28
-
-
79955502687
-
Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS
-
Sun Z., Diaz Z., Fang X., Hart M.P., Chesi A., Shorter J., Gitler A.D. Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS. PLoS Biol. 2011, 9:e1000614.
-
(2011)
PLoS Biol.
, vol.9
, pp. e1000614
-
-
Sun, Z.1
Diaz, Z.2
Fang, X.3
Hart, M.P.4
Chesi, A.5
Shorter, J.6
Gitler, A.D.7
-
29
-
-
84868152371
-
Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs
-
Lagier-Tourenne C., Polymenidou M., Hutt K.R., Vu A.Q., Baughn M., Huelga S.C., Clutario K.M., Ling S.C., Liang T.Y., Mazur C., Wancewicz E., Kim A.S., Watt A., Freier S., Hicks G.G., Donohue J.P., Shiue L., Bennett C.F., Ravits J., Cleveland D.W., Yeo G.W. Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs. Nat. Neurosci. 2012, 15:1488-1497.
-
(2012)
Nat. Neurosci.
, vol.15
, pp. 1488-1497
-
-
Lagier-Tourenne, C.1
Polymenidou, M.2
Hutt, K.R.3
Vu, A.Q.4
Baughn, M.5
Huelga, S.C.6
Clutario, K.M.7
Ling, S.C.8
Liang, T.Y.9
Mazur, C.10
Wancewicz, E.11
Kim, A.S.12
Watt, A.13
Freier, S.14
Hicks, G.G.15
Donohue, J.P.16
Shiue, L.17
Bennett, C.F.18
Ravits, J.19
Cleveland, D.W.20
Yeo, G.W.21
more..
-
30
-
-
84862151933
-
The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease
-
King O.D., Gitler A.D., Shorter J. The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease. Brain Res. 2012, 1462:61-80.
-
(2012)
Brain Res.
, vol.1462
, pp. 61-80
-
-
King, O.D.1
Gitler, A.D.2
Shorter, J.3
-
31
-
-
77951183978
-
Prion-like disorders: blurring the divide between transmissibility and infectivity
-
Cushman M., Johnson B.S., King O.D., Gitler A.D., Shorter J. Prion-like disorders: blurring the divide between transmissibility and infectivity. J. Cell Sci. 2010, 123:1191-1201.
-
(2010)
J. Cell Sci.
, vol.123
, pp. 1191-1201
-
-
Cushman, M.1
Johnson, B.S.2
King, O.D.3
Gitler, A.D.4
Shorter, J.5
-
32
-
-
80054832080
-
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
-
Dejesus-Hernandez M., Mackenzie I.R., Boeve B.F., Boxer A.L., Baker M., Rutherford N.J., Nicholson A.M., Finch N.A., Flynn H., Adamson J., Kouri N., Wojtas A., Sengdy P., Hsiung G.Y., Karydas A., Seeley W.W., Josephs K.A., Coppola G., Geschwind D.H., Wszolek Z.K., Feldman H., Knopman D.S., Petersen R.C., Miller B.L., Dickson D.W., Boylan K.B., Graff-Radford N.R., Rademakers R. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS. Neuron 2011, 72:245-256.
-
(2011)
Neuron
, vol.72
, 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..
-
33
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton A.E., Majounie E., Waite A., Simon-Sanchez J., Rollinson S., Gibbs J.R., Schymick J.C., Laaksovirta H., van Swieten J.C., Myllykangas L., Kalimo H., Paetau A., Abramzon Y., Remes A.M., Kaganovich A., Scholz S.W., Duckworth J., Ding J., Harmer D.W., Hernandez D.G., Johnson J.O., Mok K., Ryten M., Trabzuni D., Guerreiro R.J., Orrell R.W., Neal J., Murray A., Pearson J., Jansen I.E., Sondervan D., Seelaar H., Blake D., Young K., Halliwell N., Callister J.B., Toulson G., Richardson A., Gerhard A., Snowden J., Mann D., Neary D., Nalls M.A., Peuralinna T., Jansson L., Isoviita V.M., Kaivorinne A.L., Holtta-Vuori M., Ikonen E., Sulkava R., Benatar M., Wuu J., Chio A., Restagno G., Borghero G., Sabatelli M., Heckerman D., Rogaeva E., Zinman L., Rothstein J.D., Sendtner M., Drepper C., Eichler E.E., Alkan C., Abdullaev Z., Pack S.D., Dutra A., Pak E., Hardy J., Singleton A., Williams N.M., Heutink P., Pickering-Brown S., Morris H.R., Tienari P.J., Traynor B.J. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011, 72:257-268.
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
Simon-Sanchez, 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
Holtta-Vuori, M.48
Ikonen, E.49
Sulkava, R.50
Benatar, M.51
Wuu, J.52
Chio, A.53
Restagno, G.54
Borghero, G.55
Sabatelli, M.56
Heckerman, D.57
Rogaeva, E.58
Zinman, L.59
Rothstein, J.D.60
Sendtner, M.61
Drepper, C.62
Eichler, E.E.63
Alkan, C.64
Abdullaev, Z.65
Pack, S.D.66
Dutra, A.67
Pak, E.68
Hardy, J.69
Singleton, A.70
Williams, N.M.71
Heutink, P.72
Pickering-Brown, S.73
Morris, H.R.74
Tienari, P.J.75
Traynor, B.J.76
more..
-
34
-
-
84890233174
-
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic
-
Lee Y.B., Chen H.J., Peres J.N., Gomez-Deza J., Attig J., Stalekar M., Troakes C., Nishimura A.L., Scotter E.L., Vance C., Adachi Y., Sardone V., Miller J.W., Smith B.N., Gallo J.M., Ule J., Hirth F., Rogelj B., Houart C., Shaw C.E. Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic. Cell Rep. 2013, 5:1178-1186.
-
(2013)
Cell Rep.
, vol.5
, pp. 1178-1186
-
-
Lee, Y.B.1
Chen, H.J.2
Peres, J.N.3
Gomez-Deza, J.4
Attig, J.5
Stalekar, M.6
Troakes, C.7
Nishimura, A.L.8
Scotter, E.L.9
Vance, C.10
Adachi, Y.11
Sardone, V.12
Miller, J.W.13
Smith, B.N.14
Gallo, J.M.15
Ule, J.16
Hirth, F.17
Rogelj, B.18
Houart, C.19
Shaw, C.E.20
more..
-
35
-
-
84892590289
-
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
-
Gendron T.F., Bieniek K.F., Zhang Y.J., Jansen-West K., Ash P.E., Caulfield T., Daughrity L., Dunmore J.H., Castanedes-Casey M., Chew J., Cosio D.M., van Blitterswijk M., Lee W.C., Rademakers R., Boylan K.B., Dickson D.W., Petrucelli L. Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol. 2013, 126:829-844.
-
(2013)
Acta Neuropathol.
, vol.126
, pp. 829-844
-
-
Gendron, T.F.1
Bieniek, K.F.2
Zhang, Y.J.3
Jansen-West, K.4
Ash, P.E.5
Caulfield, T.6
Daughrity, L.7
Dunmore, J.H.8
Castanedes-Casey, M.9
Chew, J.10
Cosio, D.M.11
van Blitterswijk, M.12
Lee, W.C.13
Rademakers, R.14
Boylan, K.B.15
Dickson, D.W.16
Petrucelli, L.17
-
36
-
-
84890837640
-
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
-
Zu T., Liu Y., Banez-Coronel M., Reid T., Pletnikova O., Lewis J., Miller T.M., Harms M.B., Falchook A.E., Subramony S.H., Ostrow L.W., Rothstein J.D., Troncoso J.C., Ranum L.P. RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc. Natl. Acad. Sci. U. S. A. 2013, 110:E4968-E4977.
-
(2013)
Proc. Natl. Acad. Sci. U. S. A.
, vol.110
, pp. E4968-E4977
-
-
Zu, T.1
Liu, Y.2
Banez-Coronel, M.3
Reid, T.4
Pletnikova, O.5
Lewis, J.6
Miller, T.M.7
Harms, M.B.8
Falchook, A.E.9
Subramony, S.H.10
Ostrow, L.W.11
Rothstein, J.D.12
Troncoso, J.C.13
Ranum, L.P.14
-
37
-
-
84878556716
-
Protein aggregation in amyotrophic lateral sclerosis
-
Blokhuis A.M., Groen E.J., Koppers M., van den Berg L.H., Pasterkamp R.J. Protein aggregation in amyotrophic lateral sclerosis. Acta Neuropathol. 2013, 125:777-794.
-
(2013)
Acta Neuropathol.
, vol.125
, pp. 777-794
-
-
Blokhuis, A.M.1
Groen, E.J.2
Koppers, M.3
van den Berg, L.H.4
Pasterkamp, R.J.5
-
38
-
-
83155185539
-
Emerging role of p62/sequestosome-1 in the pathogenesis of Alzheimer's disease
-
Salminen A., Kaarniranta K., Haapasalo A., Hiltunen M., Soininen H., Alafuzoff I. Emerging role of p62/sequestosome-1 in the pathogenesis of Alzheimer's disease. Prog. Neurobiol. 2012, 96:87-95.
-
(2012)
Prog. Neurobiol.
, vol.96
, pp. 87-95
-
-
Salminen, A.1
Kaarniranta, K.2
Haapasalo, A.3
Hiltunen, M.4
Soininen, H.5
Alafuzoff, I.6
-
39
-
-
0035919837
-
Ubiquitin-binding protein p62 is present in neuronal and glial inclusions in human tauopathies and synucleinopathies
-
Kuusisto E., Salminen A., Alafuzoff I. Ubiquitin-binding protein p62 is present in neuronal and glial inclusions in human tauopathies and synucleinopathies. Neuroreport 2001, 12:2085-2090.
-
(2001)
Neuroreport
, vol.12
, pp. 2085-2090
-
-
Kuusisto, E.1
Salminen, A.2
Alafuzoff, I.3
-
40
-
-
2442520399
-
Ubiquilin interacts with ubiquitylated proteins and proteasome through its ubiquitin-associated and ubiquitin-like domains
-
Ko H.S., Uehara T., Tsuruma K., Nomura Y. Ubiquilin interacts with ubiquitylated proteins and proteasome through its ubiquitin-associated and ubiquitin-like domains. FEBS Lett. 2004, 566:110-114.
-
(2004)
FEBS Lett.
, vol.566
, pp. 110-114
-
-
Ko, H.S.1
Uehara, T.2
Tsuruma, K.3
Nomura, Y.4
-
41
-
-
54049083042
-
Testing the Holy Grail framework: using functional traits to predict ecosystem change
-
Suding K.N., Goldstein L.J. Testing the Holy Grail framework: using functional traits to predict ecosystem change. New Phytol. 2008, 180:559-562.
-
(2008)
New Phytol.
, vol.180
, pp. 559-562
-
-
Suding, K.N.1
Goldstein, L.J.2
-
42
-
-
80052580969
-
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
-
Deng H.X., Chen W., Hong S.T., Boycott K.M., Gorrie G.H., Siddique N., Yang Y., Fecto F., Shi Y., Zhai H., Jiang H., Hirano M., Rampersaud E., Jansen G.H., Donkervoort S., Bigio E.H., Brooks B.R., Ajroud K., Sufit R.L., Haines J.L., Mugnaini E., Pericak-Vance M.A., Siddique T. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 2011, 477:211-215.
-
(2011)
Nature
, vol.477
, 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..
-
43
-
-
33645926989
-
P62/SQSTM1: a missing link between protein aggregates and the autophagy machinery
-
Bjorkoy G., Lamark T., Johansen T. p62/SQSTM1: a missing link between protein aggregates and the autophagy machinery. Autophagy 2006, 2:138-139.
-
(2006)
Autophagy
, vol.2
, pp. 138-139
-
-
Bjorkoy, G.1
Lamark, T.2
Johansen, T.3
-
44
-
-
80855150639
-
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis
-
Fecto F., Yan J., Vemula S.P., Liu E., Yang Y., Chen W., Zheng J.G., Shi Y., Siddique N., Arrat H., Donkervoort S., Ajroud-Driss S., Sufit R.L., Heller S.L., Deng H.X., Siddique T. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch. Neurol. 2011, 68:1440-1446.
-
(2011)
Arch. Neurol.
, vol.68
, 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
-
45
-
-
84867543551
-
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Rubino E., Rainero I., Chio A., Rogaeva E., Galimberti D., Fenoglio P., Grinberg Y., Isaia G., Calvo A., Gentile S., Bruni A.C., St George-Hyslop P.H., Scarpini E., Gallone S., Pinessi L. SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology 2012, 79:1556-1562.
-
(2012)
Neurology
, vol.79
, pp. 1556-1562
-
-
Rubino, E.1
Rainero, I.2
Chio, A.3
Rogaeva, E.4
Galimberti, D.5
Fenoglio, P.6
Grinberg, Y.7
Isaia, G.8
Calvo, A.9
Gentile, S.10
Bruni, A.C.11
St George-Hyslop, P.H.12
Scarpini, E.13
Gallone, S.14
Pinessi, L.15
-
46
-
-
84888882093
-
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis
-
Le Ber I., Camuzat A., Guerreiro R., Bouya-Ahmed K., Bras J., Nicolas G., Gabelle A., Didic M., De Septenville A., Millecamps S., Lenglet T., Latouche M., Kabashi E., Campion D., Hannequin D., Hardy J., Brice A. SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA Neurol. 2013, 70:1403-1410.
-
(2013)
JAMA Neurol.
, vol.70
, pp. 1403-1410
-
-
Le Ber, I.1
Camuzat, A.2
Guerreiro, R.3
Bouya-Ahmed, K.4
Bras, J.5
Nicolas, G.6
Gabelle, A.7
Didic, M.8
De Septenville, A.9
Millecamps, S.10
Lenglet, T.11
Latouche, M.12
Kabashi, E.13
Campion, D.14
Hannequin, D.15
Hardy, J.16
Brice, A.17
-
47
-
-
83755225692
-
Genetic determinants of Paget's disease of bone
-
Ralston S.H., Albagha O.M. Genetic determinants of Paget's disease of bone. Ann. N. Y. Acad. Sci. 2011, 1240:53-60.
-
(2011)
Ann. N. Y. Acad. Sci.
, vol.1240
, pp. 53-60
-
-
Ralston, S.H.1
Albagha, O.M.2
-
48
-
-
84899680397
-
E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy
-
Chalasani M.L., Kumari A., Radha V., Swarup G. E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy. PLoS One 2014, 9:e95758.
-
(2014)
PLoS One
, vol.9
, pp. e95758
-
-
Chalasani, M.L.1
Kumari, A.2
Radha, V.3
Swarup, G.4
-
49
-
-
67349090057
-
Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia
-
Weihl C.C., Pestronk A., Kimonis V.E. Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. Neuromuscul. Disord. 2009, 19:308-315.
-
(2009)
Neuromuscul. Disord.
, vol.19
, pp. 308-315
-
-
Weihl, C.C.1
Pestronk, A.2
Kimonis, V.E.3
-
50
-
-
70349592269
-
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
-
van Es M.A., Veldink J.H., Saris C.G., Blauw H.M., van Vught P.W., Birve A., Lemmens R., Schelhaas H.J., Groen E.J., Huisman M.H., van der Kooi A.J., de Visser M., Dahlberg C., Estrada K., Rivadeneira F., Hofman A., Zwarts M.J., van Doormaal P.T., Rujescu D., Strengman E., Giegling I., Muglia P., Tomik B., Slowik A., Uitterlinden A.G., Hendrich C., Waibel S., Meyer T., Ludolph A.C., Glass J.D., Purcell S., Cichon S., Nothen M.M., Wichmann H.E., Schreiber S., Vermeulen S.H., Kiemeney L.A., Wokke J.H., Cronin S., McLaughlin R.L., Hardiman O., Fumoto K., Pasterkamp R.J., Meininger V., Melki J., Leigh P.N., Shaw C.E., Landers J.E., Al-Chalabi A., Brown R.H., Robberecht W., Andersen P.M., Ophoff R.A., van den Berg L.H. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat. Genet. 2009, 41:1083-1087.
-
(2009)
Nat. Genet.
, vol.41
, 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
Nothen, 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, R.H.50
Robberecht, W.51
Andersen, P.M.52
Ophoff, R.A.53
van den Berg, L.H.54
more..
-
51
-
-
84855795589
-
UNC13A is a modifier of survival in amyotrophic lateral sclerosis
-
(e633-638)
-
Diekstra F.P., van Vught P.W., van Rheenen W., Koppers M., Pasterkamp R.J., van Es M.A., Schelhaas H.J., de Visser M., Robberecht W., Van Damme P., Andersen P.M., van den Berg L.H., Veldink J.H. UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Neurobiol. Aging 2012, 33:630. (e633-638).
-
(2012)
Neurobiol. Aging
, vol.33
, pp. 630
-
-
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
-
52
-
-
21744434371
-
Aberrant morphology and residual transmitter release at the Munc13-deficient mouse neuromuscular synapse
-
Varoqueaux F., Sons M.S., Plomp J.J., Brose N. Aberrant morphology and residual transmitter release at the Munc13-deficient mouse neuromuscular synapse. Mol. Cell. Biol. 2005, 25:5973-5984.
-
(2005)
Mol. Cell. Biol.
, vol.25
, pp. 5973-5984
-
-
Varoqueaux, F.1
Sons, M.S.2
Plomp, J.J.3
Brose, N.4
-
53
-
-
58749097964
-
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
-
Simpson C.L., Lemmens R., Miskiewicz K., Broom W.J., Hansen V.K., van Vught P.W., Landers J.E., Sapp P., Van Den Bosch L., Knight J., Neale B.M., Turner M.R., Veldink J.H., Ophoff R.A., Tripathi V.B., Beleza A., Shah M.N., Proitsi P., Van Hoecke A., Carmeliet P., Horvitz H.R., Leigh P.N., Shaw C.E., van den Berg L.H., Sham P.C., Powell J.F., Verstreken P., Brown R.H., Robberecht W., Al-Chalabi A. Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum. Mol. Genet. 2009, 18:472-481.
-
(2009)
Hum. Mol. Genet.
, vol.18
, 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, R.H.28
Robberecht, W.29
Al-Chalabi, A.30
more..
-
54
-
-
77956155218
-
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
-
Elden A.C., Kim H.J., Hart M.P., Chen-Plotkin A.S., Johnson B.S., Fang X., Armakola M., Geser F., Greene R., Lu M.M., Padmanabhan A., Clay-Falcone D., McCluskey L., Elman L., Juhr D., Gruber P.J., Rub U., Auburger G., Trojanowski J.Q., Lee V.M., Van Deerlin V.M., Bonini N.M., Gitler A.D. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010, 466:1069-1075.
-
(2010)
Nature
, vol.466
, 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
Rub, 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..
-
55
-
-
33748707208
-
Paraoxonase cluster polymorphisms are associated with sporadic ALS
-
Saeed M., Siddique N., Hung W.Y., Usacheva E., Liu E., Sufit R.L., Heller S.L., Haines J.L., Pericak-Vance M., Siddique T. Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology 2006, 67:771-776.
-
(2006)
Neurology
, vol.67
, pp. 771-776
-
-
Saeed, M.1
Siddique, N.2
Hung, W.Y.3
Usacheva, E.4
Liu, E.5
Sufit, R.L.6
Heller, S.L.7
Haines, J.L.8
Pericak-Vance, M.9
Siddique, T.10
-
56
-
-
68249141410
-
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS
-
Wills A.M., Cronin S., Slowik A., Kasperaviciute D., Van Es M.A., Morahan J.M., Valdmanis P.N., Meininger V., Melki J., Shaw C.E., Rouleau G.A., Fisher E.M., Shaw P.J., Morrison K.E., Pamphlett R., Van den Berg L.H., Figlewicz D.A., Andersen P.M., Al-Chalabi A., Hardiman O., Purcell S., Landers J.E., Brown R.H. A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology 2009, 73:16-24.
-
(2009)
Neurology
, vol.73
, 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, R.H.23
more..
-
57
-
-
0029838035
-
Neuropathology of ALS: an overview
-
Hirano A. Neuropathology of ALS: an overview. Neurology 1996, 47:S63-S66.
-
(1996)
Neurology
, vol.47
, pp. S63-S66
-
-
Hirano, A.1
-
58
-
-
80051563478
-
Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations
-
Deng H.X., Bigio E.H., Zhai H., Fecto F., Ajroud K., Shi Y., Yan J., Mishra M., Ajroud-Driss S., Heller S., Sufit R., Siddique N., Mugnaini E., Siddique T. Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations. Arch. Neurol. 2011, 68:1057-1061.
-
(2011)
Arch. Neurol.
, vol.68
, pp. 1057-1061
-
-
Deng, H.X.1
Bigio, E.H.2
Zhai, H.3
Fecto, F.4
Ajroud, K.5
Shi, Y.6
Yan, J.7
Mishra, M.8
Ajroud-Driss, S.9
Heller, S.10
Sufit, R.11
Siddique, N.12
Mugnaini, E.13
Siddique, T.14
-
59
-
-
84896697357
-
The neuropathology associated with repeat expansions in the C9ORF72 gene
-
Mackenzie I.R., Frick P., Neumann M. The neuropathology associated with repeat expansions in the C9ORF72 gene. Acta Neuropathol. 2014, 127:347-357.
-
(2014)
Acta Neuropathol.
, vol.127
, pp. 347-357
-
-
Mackenzie, I.R.1
Frick, P.2
Neumann, M.3
-
60
-
-
82355180826
-
P62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
-
Al-Sarraj S., King A., Troakes C., Smith B., Maekawa S., Bodi I., Rogelj B., Al-Chalabi A., Hortobagyi T., Shaw C.E. p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol. 2011, 122:691-702.
-
(2011)
Acta Neuropathol.
, vol.122
, pp. 691-702
-
-
Al-Sarraj, S.1
King, A.2
Troakes, C.3
Smith, B.4
Maekawa, S.5
Bodi, I.6
Rogelj, B.7
Al-Chalabi, A.8
Hortobagyi, T.9
Shaw, C.E.10
-
61
-
-
33746667851
-
Antisense oligonucleotide therapy for neurodegenerative disease
-
Smith R.A., Miller T.M., Yamanaka K., Monia B.P., Condon T.P., Hung G., Lobsiger C.S., Ward C.M., McAlonis-Downes M., Wei H., Wancewicz E.V., Bennett C.F., Cleveland D.W. Antisense oligonucleotide therapy for neurodegenerative disease. J. Clin. Invest. 2006, 116:2290-2296.
-
(2006)
J. Clin. Invest.
, vol.116
, pp. 2290-2296
-
-
Smith, R.A.1
Miller, T.M.2
Yamanaka, K.3
Monia, B.P.4
Condon, T.P.5
Hung, G.6
Lobsiger, C.S.7
Ward, C.M.8
McAlonis-Downes, M.9
Wei, H.10
Wancewicz, E.V.11
Bennett, C.F.12
Cleveland, D.W.13
-
62
-
-
84876466100
-
An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study
-
Miller T.M., Pestronk A., David W., Rothstein J., Simpson E., Appel S.H., Andres P.L., Mahoney K., Allred P., Alexander K., Ostrow L.W., Schoenfeld D., Macklin E.A., Norris D.A., Manousakis G., Crisp M., Smith R., Bennett C.F., Bishop K.M., Cudkowicz M.E. 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. 2013, 12:435-442.
-
(2013)
Lancet Neurol.
, vol.12
, 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..
-
63
-
-
84897997188
-
Intraspinal neural stem cell transplantation in amyotrophic lateral sclerosis: phase 1 trial outcomes
-
Feldman E.L., Boulis N.M., Hur J., Johe K., Rutkove S.B., Federici T., Polak M., Bordeau J., Sakowski S.A., Glass J.D. Intraspinal neural stem cell transplantation in amyotrophic lateral sclerosis: phase 1 trial outcomes. Ann. Neurol. 2014, 75:363-373.
-
(2014)
Ann. Neurol.
, vol.75
, pp. 363-373
-
-
Feldman, E.L.1
Boulis, N.M.2
Hur, J.3
Johe, K.4
Rutkove, S.B.5
Federici, T.6
Polak, M.7
Bordeau, J.8
Sakowski, S.A.9
Glass, J.D.10
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