-
1
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
Kwiatkowski TJ Jr., Bosco DA, Leclerc AL, et al. 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, Jr.T.J.1
Bosco, D.A.2
Leclerc, A.L.3
-
2
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
Vance C, Rogelj B, Hortobagyi T, et al. 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
-
3
-
-
67349155310
-
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation
-
Chio A, Restagno G, Brunetti M, et al. Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol Aging 2009 30 : 1272 1275.
-
(2009)
Neurobiol Aging
, vol.30
, pp. 1272-1275
-
-
Chio, A.1
Restagno, G.2
Brunetti, M.3
-
4
-
-
0029854883
-
D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
-
Robberecht W, Aguirre T, Van denBosch L, Tilkin P, Cassiman JJ, Matthijs G. D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology 1996 47 : 1336 1339. (Pubitemid 26374913)
-
(1996)
Neurology
, vol.47
, Issue.5
, pp. 1336-1339
-
-
Robberecht, W.1
Aguirre, T.2
Van Den Bosch, L.3
Tilkin, P.4
Cassiman, J.J.5
Matthijs, G.6
-
5
-
-
0032796004
-
Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
-
DOI 10.1038/sj.ejhg.5200337
-
Aguirre T, Matthijs G, Robberecht W, Tilkin P, Cassiman JJ. Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium. Eur J Hum Genet 1999 7 : 599 602. (Pubitemid 29378037)
-
(1999)
European Journal of Human Genetics
, vol.7
, Issue.5
, pp. 599-602
-
-
Aguirre, T.1
Matthijs, G.2
Robberecht, W.3
Tilkin, P.4
Cassiman, J.-J.5
-
6
-
-
61549125034
-
TDP-43 M311V mutation in familial amyotrophic lateral sclerosis
-
Lemmens R, Race V, Hersmus N, et al. TDP-43 M311V mutation in familial amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2009 80 : 354 355.
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.80
, pp. 354-355
-
-
Lemmens, R.1
Race, V.2
Hersmus, N.3
-
7
-
-
41149180753
-
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
-
DOI 10.1126/science.1154584
-
Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008 319 : 1668 1672. (Pubitemid 351432505)
-
(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
-
8
-
-
42649120983
-
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
-
DOI 10.1038/ng.132, PII NG132
-
Kabashi E, Valdmanis PN, Dion P, et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 2008 40 : 572 574. (Pubitemid 351601218)
-
(2008)
Nature Genetics
, vol.40
, Issue.5
, pp. 572-574
-
-
Kabashi, E.1
Valdmanis, P.N.2
Dion, P.3
Spiegelman, D.4
McConkey, B.J.5
Velde, C.V.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
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