-
1
-
-
0027164824
-
Erratum: Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis (Nature (1993) 362 (59-62))
-
Rosen DR. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 364: 362. (Pubitemid 23265284)
-
(1993)
Nature
, vol.364
, Issue.6435
, pp. 362
-
-
Rosen, D.R.1
-
2
-
-
0029010496
-
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90 Ala mutation in CuZn-superoxide dismutase
-
Andersen PM, Nilsson P, Ala-Hurula V, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 1995; 10: 61-66.
-
(1995)
Nat Genet
, vol.10
, pp. 61-66
-
-
Andersen, P.M.1
Nilsson, P.2
Ala-Hurula, V.3
-
3
-
-
7844227669
-
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: Evidence for a linked protective factor
-
Al-Chalabi A, Andersen PM, Chioza B, et al. Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. Hum Mol Genet 1998; 7: 2045-2050. (Pubitemid 28546412)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.13
, pp. 2045-2050
-
-
Al-Chalabi, A.1
Andersen, P.M.2
Chioza, B.3
Shaw, C.4
Sham, P.C.5
Robberecht, W.6
Matthijs, G.7
Camu, W.8
Marklund, S.L.9
Forsgren, L.10
Rouleau, G.11
Laing, N.G.12
Hurse, P.V.13
Siddique, T.14
Leigh, P.N.15
Powell, J.F.16
-
4
-
-
0031015422
-
Prognosis in familial amyotrophic lateral sclerosis: Progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase
-
Juneja T, Pericak-Vance MA, Laing NG, Dave S, Siddique T. Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase. Neurology 1997; 48: 55-57. (Pubitemid 27039517)
-
(1997)
Neurology
, vol.48
, Issue.1
, pp. 55-57
-
-
Juneja, T.1
Pericak-Vance, M.A.2
Laing, N.G.3
Dave, S.4
Siddique, T.5
-
5
-
-
0031057003
-
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
-
DOI 10.1002/ana.410410212
-
Cudkowicz ME, McKenna-Yasek D, Sapp PE, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997; 41: 210-221. (Pubitemid 27082102)
-
(1997)
Annals of Neurology
, vol.41
, Issue.2
, 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
-
6
-
-
0029854883
-
D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
-
Robberecht W, Aguirre T, Van den Bosch L, Tilkin P, Cassiman JJ, Matthijs G. D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyo-trophic 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
-
7
-
-
0031959591
-
Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34
-
DOI 10.1086/301769
-
Chance PF, Rabin BA, Ryan SG, et al. Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am J Hum Genet 1998; 62: 633-640. (Pubitemid 28164621)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.3
, pp. 633-640
-
-
Chance, P.F.1
Rabin, B.A.2
Ryan, S.G.3
Ding, Y.4
Scavina, M.5
Crain, B.6
Griffin, J.W.7
Cornblath, D.R.8
-
8
-
-
0032414948
-
Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers
-
DOI 10.1007/s100480050052
-
Hentati A, Ouahchi K, Pericak-Vance MA, et al. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics 1998; 2: 55-60. (Pubitemid 29067535)
-
(1998)
Neurogenetics
, vol.2
, Issue.1
, pp. 55-60
-
-
Hentati, A.1
Ouahchi, K.2
Pericak-Vance, M.A.3
Nijhawan, D.4
Ahmad, A.5
Yang, Y.6
Rimmler, J.7
Hung, W.-Y.8
Schlotter, B.9
Ahmed, A.10
Ben Hamida, M.11
Hentati, F.12
Siddique, T.13
-
9
-
-
0028334717
-
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35
-
DOI 10.1038/ng0794-425
-
Hentati A, Bejaoui K, Pericak-Vance MA, et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet 1994; 7: 425-428. (Pubitemid 24204421)
-
(1994)
Nature Genetics
, vol.7
, Issue.3
, pp. 425-428
-
-
Hentati, A.1
Bejaoui, K.2
Pericak-Vance, M.A.3
Hentati, F.4
Speer, M.C.5
Hung, W.-Y.6
Figlewicz, D.A.7
Haines, J.8
Rimmler, J.9
Ben Hamida, C.10
Ben Hamida, M.11
Brown Jr., R.H.12
Siddique, T.13
-
10
-
-
0006604867
-
X-linked dominant locus for late-onset familial amyotrophic lateral sclerosis
-
Hong S, Brooks BR, Hung WY, et al. X-linked dominant locus for late-onset familial amyotrophic lateral sclerosis. Soc Neurosci Abstr 1998; 24: 478.
-
(1998)
Soc Neurosci Abstr
, vol.24
, pp. 478
-
-
Hong, S.1
Brooks, B.R.2
Hung, W.Y.3
-
11
-
-
0028001606
-
Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
-
Figlewicz DA, Krizus A, Martinoli MG, et al. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 1757-1761. (Pubitemid 24310467)
-
(1994)
Human Molecular Genetics
, 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
-
12
-
-
0032427646
-
Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)
-
Tomkins J, Usher P, Slade JY, et al. Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS). Neuroreport 1998; 9: 3967-3970. (Pubitemid 29189335)
-
(1998)
NeuroReport
, vol.9
, Issue.17
, pp. 3967-3970
-
-
Tomkins, J.1
Usher, P.2
Slade, J.Y.3
Ince, P.G.4
Curtis, A.5
Bushby, K.6
Shaw, P.J.7
-
13
-
-
0033381436
-
Genetic disorders of motor neurones
-
Cole N, Siddique T. Genetic disorders of motor neurones. Semin Neurol 1999; 19: 407-418.
-
(1999)
Semin Neurol
, vol.19
, pp. 407-418
-
-
Cole, N.1
Siddique, T.2
-
14
-
-
0032926368
-
Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis
-
DOI 10.1093/hmg/8.2.157
-
Al-Chalabi A, Andersen PM, Nilsson P, et al. Deletions of the heavy neuroilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet 1999; 8: 157-164. (Pubitemid 29054257)
-
(1999)
Human Molecular Genetics
, 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
-
15
-
-
0031915174
-
Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease
-
DOI 10.1002/ana.410430119
-
Comi GP, Bordoni A, Salani S, et al. Cytochrome c oxidase subunit I microdeletion in a patient with motor neurone disease. Ann Neurol 1998; 43: 110-116. (Pubitemid 28124656)
-
(1998)
Annals of Neurology
, vol.43
, Issue.1
, pp. 110-116
-
-
Comi, G.P.1
Bordoni, A.2
Salani, S.3
Franceschina, L.4
Sciacco, M.5
Prelle, A.6
Fortunato, F.7
Zeviani, M.8
Napoli, L.9
Bresolin, N.10
Moggio, M.11
Ausenda, C.D.12
Taanman, J.-W.13
Scarlato, G.14
-
16
-
-
0032567807
-
Mutant AP endonuclease in patients with amyotrophic lateral sclerosis
-
Olkowski ZL. Mutant AP endonuclease in patients with amyotrophic lateral sclerosis. NeuroReport 1998; 9: 239-242. (Pubitemid 28081395)
-
(1998)
NeuroReport
, vol.9
, Issue.2
, pp. 239-242
-
-
Olkowski, Z.L.1
-
17
-
-
0029787386
-
Apolipoprotein e genotyping in sporadic amyotrophic lateral sclerosis: Evidence for a major influence on the clinical presentation and prognosis
-
Moulard B, Sefiani A, Laamri A, Malafosse A, Camu W. Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis: evidence for a major influence on the clinical presentation and prognosis. J Neurol Sci 1996; 139: 34-37.
-
(1996)
J Neurol Sci
, vol.139
, pp. 34-37
-
-
Moulard, B.1
Sefiani, A.2
Laamri, A.3
Malafosse, A.4
Camu, W.5
-
18
-
-
0030025431
-
Association of apolipoprotein E ε4 allele with bulbar-onset motor neuron disease
-
DOI 10.1016/S0140-6736(96)90343-8
-
Al-Chalabi A, Enayat ZE, Bakker MC, et al. Association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neurone disease. Lancet 1996; 347: 159-160. (Pubitemid 26025156)
-
(1996)
Lancet
, vol.347
, Issue.8995
, pp. 159-160
-
-
Al-Chalabi, A.1
Enayat, Z.E.2
Bakker, M.C.3
Sham, P.C.4
Ball, D.M.5
Shaw, C.E.6
Lloyd, C.M.7
Powell, J.F.8
Leigh, P.N.9
-
19
-
-
0033009789
-
Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis
-
Hayward C, Colville S, Swingler RJ, Brock DJ. Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis. Neurology 1999; 52: 1899-1901. (Pubitemid 29260908)
-
(1999)
Neurology
, vol.52
, Issue.9
, pp. 1899-1901
-
-
Hayward, C.1
Colville, S.2
Swingler, R.J.3
Brock, D.J.H.4
-
20
-
-
0029921651
-
Debrisoquine hydroxylase gene polymorphism frequencies in patients with amyotrophic lateral sclerosis
-
DOI 10.1016/0304-3940(96)12549-0
-
Siddons MA, Pickering-Brown SM, Mann DM, Owen F, Cooper PN. Debrisoquine hydroxylase gene polymorphism frequencies in patients with amyotrophic lateral sclerosis. Neurosci Lett 1996; 208: 65-68. (Pubitemid 26128109)
-
(1996)
Neuroscience Letters
, vol.208
, Issue.1
, pp. 65-68
-
-
Siddons, M.A.1
Pickering-Brown, S.M.2
Mann, D.M.A.3
Owen, F.4
Cooper, P.N.5
-
21
-
-
0031958077
-
Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease
-
DOI 10.1002/ana.410430513
-
Moulard B, Salachas F, Chassande B, et al. Association between centromeric deletions of the SMN gene and sporadic adultonset lower motor neurone disease. Ann Neurol 1998; 43: 640-644. (Pubitemid 28225556)
-
(1998)
Annals of Neurology
, vol.43
, Issue.5
, pp. 640-644
-
-
Moulard, B.1
Salachas, F.2
Chassande, B.3
Briolotti, V.4
Meininger, V.5
Malafosse, A.6
Camu, W.7
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