-
1
-
-
33747605320
-
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
-
Pasinelli, P. and Brown, R.H. (2006) Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat. Rev. Neurosci., 7, 710-723.
-
(2006)
Nat. Rev. Neurosci.
, vol.7
, pp. 710-723
-
-
Pasinelli, P.1
Brown, R.H.2
-
2
-
-
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. et al. (2010) Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature, 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
-
3
-
-
78649632679
-
An estimate of amyotrophic lateral sclerosis heritability using twin data
-
Al-Chalabi, A., Fang, F., Hanby, M.F., Leigh, P.N., Shaw, C.E., Ye, W. and Rijsdijk, F. (2010) An estimate of amyotrophic lateral sclerosis heritability using twin data. J. Neurol. Neurosurg. Psychiatry, 81, 1324-1326.
-
(2010)
J. Neurol. Neurosurg. Psychiatry
, vol.81
, pp. 1324-1326
-
-
Al-Chalabi, A.1
Fang, F.2
Hanby, M.F.3
Leigh, P.N.4
Shaw, C.E.5
Ye, W.6
Rijsdijk, F.7
-
4
-
-
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. et al. (2009) Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat. Genet., 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
-
5
-
-
77957739219
-
A large genome scan for rare CNVs in amyotrophic lateral sclerosis
-
Blauw, H.M., Al-Chalabi, A., Andersen, P.M., van Vught, P.W., Diekstra, F.P., van Es, M.A., Saris, C.G., Groen, E.J., van Rheenen, W., Koppers, M. et al. (2010) A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum. Mol. Genet., 19, 4091-4099.
-
(2010)
Hum. Mol. Genet.
, vol.19
, 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
-
6
-
-
0142122897
-
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
-
Rainier, S., Chai, J.-H., Tokarz, D., Nicholls, R.D. and Fink, J.K. (2003) NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am. J. Hum. Genet., 73, 967-971.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 967-971
-
-
Rainier, S.1
Chai, J.-H.2
Tokarz, D.3
Nicholls, R.D.4
Fink, J.K.5
-
7
-
-
58149396830
-
Hereditary spastic paraplegia-associated mutations in the nipa1 gene and its caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism
-
Zhao, J., Matthies, D.S., Botzolakis, E.J., Macdonald, R.L., Blakely, R.D. and Hedera, P. (2008) Hereditary spastic paraplegia-associated mutations in the nipa1 gene and its caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism. J. Neurosci., 28, 13938-13951.
-
(2008)
J. Neurosci.
, vol.28
, pp. 13938-13951
-
-
Zhao, J.1
Matthies, D.S.2
Botzolakis, E.J.3
Macdonald, R.L.4
Blakely, R.D.5
Hedera, P.6
-
8
-
-
0142027581
-
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons
-
Chai, J.-H., Locke, D.P., Greally, J.M., Knoll, J.H.M., Ohta, T., Dunai, J., Yavor, A., Eichler, E.E. and Nicholls, R.D. (2003) Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am. J. Hum. Genet., 73, 898-925.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 898-925
-
-
Chai, J.-H.1
Locke, D.P.2
Greally, J.M.3
Knoll, J.H.M.4
Ohta, T.5
Dunai, J.6
Yavor, A.7
Eichler, E.E.8
Nicholls, R.D.9
-
9
-
-
67349104211
-
Molecular mechanisms underlying polyalanine diseases
-
Messaed, C. and Rouleau, G.A. (2009) Molecular mechanisms underlying polyalanine diseases. Neurobiol. Dis., 34, 397-405.
-
(2009)
Neurobiol. Dis.
, vol.34
, pp. 397-405
-
-
Messaed, C.1
Rouleau, G.A.2
-
10
-
-
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. et al. (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron, 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
-
11
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton, A.E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J.R., Schymick, J.C., Laaksovirta, H., van Swieten, J.C., Myllykangas, L. et al. (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron, 72, 257-268.
-
(2011)
Neuron
, vol.72
, 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
-
12
-
-
79953176451
-
Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients
-
Lee, T., Li, Y.R., Ingre, C., Weber, M., Grehl, T., Gredal, O., de Carvalho, M., Meyer, T., Tysnes, O.B., Auburger, G. et al. (2011) Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum. Mol. Genet., 20, 1697-1700.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 1697-1700
-
-
Lee, T.1
Li, Y.R.2
Ingre, C.3
Weber, M.4
Grehl, T.5
Gredal, O.6
de Carvalho, M.7
Meyer, T.8
Tysnes, O.B.9
Auburger, G.10
-
13
-
-
79959653680
-
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
-
Van Damme, P., Veldink, J.H., van Blitterswijk, M., Corveleyn, A., van Vught, P.W., Thijs, V., Dubois, B., Matthijs, G., van den Berg, L.H. and Robberecht, W. (2011) Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology, 76, 2066-2072.
-
(2011)
Neurology
, vol.76
, 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
-
14
-
-
70349579493
-
The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling
-
Tsang, H.T.H., Edwards, T.L., Wang, X., Connell, J.W., Davies, R.J., Durrington, H.J., O'Kane, C.J., Luzio, J.P. and Reid, E. (2009) The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling. Hum. Mol. Genet., 18, 3805-3821.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 3805-3821
-
-
Tsang, H.T.H.1
Edwards, T.L.2
Wang, X.3
Connell, J.W.4
Davies, R.J.5
Durrington, H.J.6
O'Kane, C.J.7
Luzio, J.P.8
Reid, E.9
-
15
-
-
33846631991
-
Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules
-
Wang, X., Shaw, W.R., Tsang, H.T., Reid, E. and O'Kane, C.J. (2007) Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules. Nat. Neurosci., 10, 177-185.
-
(2007)
Nat. Neurosci.
, vol.10
, pp. 177-185
-
-
Wang, X.1
Shaw, W.R.2
Tsang, H.T.3
Reid, E.4
O'Kane, C.J.5
-
16
-
-
27544493682
-
Poly-(L-alanine) expansions form core beta-sheets that nucleate amyloid assembly
-
Shinchuk, L.M., Sharma, D., Blondelle, S.E., Reixach, N., Inouye, H. and Kirschner, D.A. (2005) Poly-(L-alanine) expansions form core beta-sheets that nucleate amyloid assembly. Proteins, 61, 579-589.
-
(2005)
Proteins
, vol.61
, pp. 579-589
-
-
Shinchuk, L.M.1
Sharma, D.2
Blondelle, S.E.3
Reixach, N.4
Inouye, H.5
Kirschner, D.A.6
-
17
-
-
79959652226
-
Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis
-
Lee, T., Li, Y.R., Chesi, A., Hart, M.P., Ramos, D., Jethava, N., Hosangadi, D., Epstein, J., Hodges, B., Bonini, N.M. et al. (2011) Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis. Neurology, 76, 2062-2065.
-
(2011)
Neurology
, vol.76
, pp. 2062-2065
-
-
Lee, T.1
Li, Y.R.2
Chesi, A.3
Hart, M.P.4
Ramos, D.5
Jethava, N.6
Hosangadi, D.7
Epstein, J.8
Hodges, B.9
Bonini, N.M.10
-
18
-
-
13444309076
-
Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families
-
Chen, S., Song, C., Guo, H., Xu, P., Huang, W., Zhou, Y., Sun, J., Li, C.-X., Du, Y., Li, X. et al. (2005) Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. Hum. Mutat., 25, 135-141.
-
(2005)
Hum. Mutat.
, vol.25
, pp. 135-141
-
-
Chen, S.1
Song, C.2
Guo, H.3
Xu, P.4
Huang, W.5
Zhou, Y.6
Sun, J.7
Li, C.-X.8
Du, Y.9
Li, X.10
-
19
-
-
20044364199
-
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia
-
Reed, J.A., Wilkinson, P.A., Patel, H., Simpson, M.A., Chatonnet, A., Robay, D., Patton, M.A., Crosby, A.H. and Warner, T.T. (2005) A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics, 6, 79-84.
-
(2005)
Neurogenetics
, vol.6
, pp. 79-84
-
-
Reed, J.A.1
Wilkinson, P.A.2
Patel, H.3
Simpson, M.A.4
Chatonnet, A.5
Robay, D.6
Patton, M.A.7
Crosby, A.H.8
Warner, T.T.9
-
20
-
-
33750363902
-
Novel SPG6 mutation p A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
-
Kaneko, S., Kawarai, T., Yip, E., Salehi-Rad, S., Sato, C., Orlacchio, A., Bernardi, G., Liang, Y., Hasegawa, H., Rogaeva, E. et al. (2006) Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia. Mov. Disord., 21, 1531-1533.
-
(2006)
Mov. Disord.
, vol.21
, pp. 1531-1533
-
-
Kaneko, S.1
Kawarai, T.2
Yip, E.3
Salehi-Rad, S.4
Sato, C.5
Orlacchio, A.6
Bernardi, G.7
Liang, Y.8
Hasegawa, H.9
Rogaeva, E.10
-
21
-
-
54049093244
-
Improved generation of rat gene knockouts by target-selected mutagenesis in mismatch repair-deficient animals
-
van Boxtel, R., Toonen, P.W., Verheul, M., van Roekel, H.S., Nijman, I.J., Guryev, V. and Cuppen, E. (2008) Improved generation of rat gene knockouts by target-selected mutagenesis in mismatch repair-deficient animals. BMC Genomics, 9, 460.
-
(2008)
BMC Genomics
, vol.9
, pp. 460
-
-
van Boxtel, R.1
Toonen, P.W.2
Verheul, M.3
van Roekel, H.S.4
Nijman, I.J.5
Guryev, V.6
Cuppen, E.7
-
22
-
-
33644601589
-
Generation of gene knockouts and mutant models in the laboratory rat by ENU-driven target-selected mutagenesis
-
Smits, B.M., Mudde, J.B., van de Belt, J., Verheul, M., Olivier, J., Homberg, J., Guryev, V., Cools, A.R., Ellenbroek, B.A., Plasterk, R.H. et al. (2006) Generation of gene knockouts and mutant models in the laboratory rat by ENU-driven target-selected mutagenesis. Pharmacogenet. Genomics, 16, 159-169.
-
(2006)
Pharmacogenet. Genomics
, vol.16
, pp. 159-169
-
-
Smits, B.M.1
Mudde, J.B.2
van de Belt, J.3
Verheul, M.4
Olivier, J.5
Homberg, J.6
Guryev, V.7
Cools, A.R.8
Ellenbroek, B.A.9
Plasterk, R.H.10
-
23
-
-
0030872838
-
PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
-
Nickerson, D.A., Tobe, V.O. and Taylor, S.L. (1997) PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res., 25, 2745-2751.
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 2745-2751
-
-
Nickerson, D.A.1
Tobe, V.O.2
Taylor, S.L.3
|