-
1
-
-
0027401203
-
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
-
Rosen DR, Siddique T, Patterson D 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
-
2
-
-
0001477869
-
Genetics of amyotrophic lateral sclerosis: An overview
-
edited by RH Brown Jr, V Meininger and M Swash. Martin Dunitz Publishers Ltd, London
-
Andersen PM, Morita M, Brown RH, Jr. Genetics of amyotrophic lateral sclerosis: an overview, pp223-250. In: Amyotrophic Lateral Sclerosis, edited by RH Brown Jr, V Meininger and M Swash. Martin Dunitz Publishers Ltd, London, 1999.
-
(1999)
Amyotrophic Lateral Sclerosis
, pp. 223-250
-
-
Andersen, P.M.1
Morita, M.2
Brown R.H., Jr.3
-
3
-
-
0030749160
-
Phenotypic heterogeneity in MND-patients with Cu/Zn superoxide dismutase mutations in Scandinavia
-
Andersen PM, Nilsson P, Keränen M-L et al. Phenotypic heterogeneity in MND-patients with Cu/Zn superoxide dismutase mutations in Scandinavia. Brain 1997; 10: 1723-1737.
-
(1997)
Brain
, vol.10
, pp. 1723-1737
-
-
Andersen, P.M.1
Nilsson, P.2
Keränen, M.-L.3
-
4
-
-
0031057003
-
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
-
Cudkowicz ME, McKenna-Yusen D, Asp PE et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997; 2: 210-221.
-
(1997)
Ann. Neurol.
, vol.2
, pp. 210-221
-
-
Cudkowicz, M.E.1
McKenna-Yusen, D.2
Asp, P.E.3
-
5
-
-
0031936175
-
Mutations in all five exons of SOD1 may cause ALS
-
Shaw CE, Enayat ZE, Chioza BA et al. Mutations in all five exons of SOD1 may cause ALS. Ann Neurol 1998; 43: 390-394.
-
(1998)
Ann. Neurol.
, vol.43
, pp. 390-394
-
-
Shaw, C.E.1
Enayat, Z.E.2
Chioza, B.A.3
-
6
-
-
0031854283
-
Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis
-
Boukaftane Y, Khoris J, Moulard B et al. Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis. Can J Neurol Sci 1998; 25: 192-196.
-
(1998)
Can. J. Neurol. Sci.
, vol.25
, pp. 192-196
-
-
Boukaftane, Y.1
Khoris, J.2
Moulard, B.3
-
7
-
-
0028916910
-
Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients
-
Jones CT, Swingler RJ, Simpson SA, Brock DJH. Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J Med Genet 1995; 32: 290-292.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 290-292
-
-
Jones, C.T.1
Swingler, R.J.2
Simpson, S.A.3
Brock, D.J.H.4
-
8
-
-
0030780350
-
Cu/Zn superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of a novel insertion mutation
-
Jackson M, Al-Chalabi A, Enayat ZE et al. Cu/Zn superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation. Ann Neurol 1997; 42: 803-807.
-
(1997)
Ann. Neurol.
, vol.42
, pp. 803-807
-
-
Jackson, M.1
Al-Chalabi, A.2
Enayat, Z.E.3
-
9
-
-
0037971097
-
On heredity in progressive muscular atrophy as illustrated in the Farr family of Vermont
-
Osler W. On heredity in progressive muscular atrophy as illustrated in the Farr family of Vermont. Arch Med 1880; 4: 316-320.
-
(1880)
Arch. Med.
, vol.4
, pp. 316-320
-
-
Osler, W.1
-
10
-
-
0036338710
-
Molecular analysis of the SOD1 gene in Spanish patients with sporadic or familial ALS
-
Garcia-Redondo A, Bustos F, Juan Y et al. Molecular analysis of the SOD1 gene in Spanish patients with sporadic or familial ALS. Muscle Nerve 2002; 26: 274-278.
-
(2002)
Muscle Nerve
, vol.26
, pp. 274-278
-
-
Garcia-Redondo, A.1
Bustos, F.2
Juan, Y.3
-
11
-
-
0028244477
-
Identification of two mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis
-
Esteban J, Rosen DR, Bowling AC et al. Identification of two mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 997-998.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 997-998
-
-
Esteban, J.1
Rosen, D.R.2
Bowling, A.C.3
-
12
-
-
0032101171
-
Simple and defined method to detect SOD1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometry
-
Nakanishi T, Kishikawa M, Miyazaki A et al. Simple and defined method to detect SOD1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometry. J Neurosci Methods 1998; 81: 41-44.
-
(1998)
J. Neurosci. Methods
, vol.81
, pp. 41-44
-
-
Nakanishi, T.1
Kishikawa, M.2
Miyazaki, A.3
-
13
-
-
0028204413
-
A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis
-
Nakano R, Sato S, Inuzuka T et al. A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. Bichem Biophys Res Com 1994; 200: 695-703.
-
(1994)
Bichem. Biophys. Res. Com.
, vol.200
, pp. 695-703
-
-
Nakano, R.1
Sato, S.2
Inuzuka, T.3
-
14
-
-
0027426169
-
Amyotrophic lateral sclerosis and structural defects in Cu/Zn superoxide dismutase
-
Deng H-X, Hentati A, Tainer JA 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
-
15
-
-
0030052392
-
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial ALS in Japan
-
Morita M, Aoki M, Abe K et al. A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial ALS in Japan. Neurosci Lett 1996; 205: 79-82.
-
(1996)
Neurosci. Lett.
, vol.205
, pp. 79-82
-
-
Morita, M.1
Aoki, M.2
Abe, K.3
-
16
-
-
0032749585
-
A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressing familial amyotrophic lateral sclerosis
-
Kohno S, Takahashi Y, Miyajima H et al. A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressing familial amyotrophic lateral sclerosis. Neurosci Lett 1999; 276: 135-137.
-
(1999)
Neurosci. Lett.
, vol.276
, pp. 135-137
-
-
Kohno, S.1
Takahashi, Y.2
Miyajima, H.3
-
17
-
-
0028132231
-
A new variant Cu/Zn superoxide dismutase (Val7 Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis
-
Hirano M, Fujii J, Nagai Y et al. A new variant Cu/Zn superoxide dismutase (Val7 Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis. Biochem Biophys Res Commun 1994; 204: 572-577.
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.204
, pp. 572-577
-
-
Hirano, M.1
Fujii, J.2
Nagai, Y.3
-
18
-
-
0030993978
-
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis
-
Bereznai B, Winkler A, Borasio GD, Gasser T. A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. Neuromusc Disord 1997; 7: 113-116.
-
(1997)
Neuromusc. Disord.
, vol.7
, pp. 113-116
-
-
Bereznai, B.1
Winkler, A.2
Borasio, G.D.3
Gasser, T.4
-
19
-
-
0037437678
-
A novel SOD1 gene mutation in Korean patients with slowly progressive familial ALS
-
Kim NH, Kim HJ, Kim M, Lee KW. A novel SOD1 gene mutation in Korean patients with slowly progressive familial ALS. J Neurol Sci 2003; 206: 65-69.
-
(2003)
J. Neurol. Sci.
, vol.206
, pp. 65-69
-
-
Kim, N.H.1
Kim, H.J.2
Kim, M.3
Lee, K.W.4
-
20
-
-
0033595217
-
A SOD1 gene mutation in a patient with slowly progressive familial ALS
-
Penco S, Schjenone A, Bordo D et al. A SOD1 gene mutation in a patient with slowly progressive familial ALS. Neurology 1999; 53: 404-406.
-
(1999)
Neurology
, vol.53
, pp. 404-406
-
-
Penco, S.1
Schjenone, A.2
Bordo, D.3
-
21
-
-
0029003428
-
Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis
-
Deng H-X, Tainer JA, Mitsumoto H et al. Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 1113-1116.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1113-1116
-
-
Deng, H.-X.1
Tainer, J.A.2
Mitsumoto, H.3
-
23
-
-
0030961866
-
Novel G16S (GGCAGC) mutation in the SOD1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis
-
Kawamata J, Shimohama S, Takano S et al. Novel G16S (GGCAGC) mutation in the SOD1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis. Hum Mutation 1997; 9: 356-358.
-
(1997)
Hum. Mutation
, vol.9
, pp. 356-358
-
-
Kawamata, J.1
Shimohama, S.2
Takano, S.3
-
24
-
-
0038647347
-
-
Personal communication
-
Chio A. Personal communication, 2002.
-
(2002)
-
-
Chio, A.1
-
25
-
-
0028273306
-
Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others
-
Jones CT, Swingler RJ, Brock DJH. Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others. Hum Mol Genet 1994; 3: 649-650.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 649-650
-
-
Jones, C.T.1
Swingler, R.J.2
Brock, D.J.H.3
-
26
-
-
0035036119
-
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: Identification of three novel missense mutations
-
Gellera C, Castelotti B, Riggio MC et al. Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations. Neuromusc Disord 2001; 11: 404-410.
-
(2001)
Neuromusc. Disord.
, vol.11
, pp. 404-410
-
-
Gellera, C.1
Castelotti, B.2
Riggio, M.C.3
-
27
-
-
0027452090
-
Mild ALS in Japan associated with a novel SOD mutation
-
Aoki M, Ogasawara M, Matsubara Y et al. Mild ALS in Japan associated with a novel SOD mutation. Nat Genet 1993; 5: 323-324.
-
(1993)
Nat. Genet.
, vol.5
, pp. 323-324
-
-
Aoki, M.1
Ogasawara, M.2
Matsubara, Y.3
-
28
-
-
0029047111
-
Two novel mutations in the gene for Cu/Zn superoxide dismutase in UK families with amyotrophic lateral sclerosis
-
Enayat ZE, Orrell RW, Claus A et al. Two novel mutations in the gene for Cu/Zn superoxide dismutase in UK families with amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 1239-1240.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1239-1240
-
-
Enayat, Z.E.1
Orrell, R.W.2
Claus, A.3
-
29
-
-
0031443762
-
Familial ALS is associated with mutations in all exons of SOD1: A novel mutation in exon 3 (Gly72Ser)
-
Orrell RW, Marklund SL, de Belleroche JS. Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). J Neurol Sci 1997; 153: 46-49.
-
(1997)
J. Neurol. Sci.
, vol.153
, pp. 46-49
-
-
Orrell, R.W.1
Marklund, S.L.2
de Belleroche, J.S.3
-
31
-
-
0036828798
-
"True" sporadic ALS associated with a novel SOD1 mutation
-
Alexander MD, Traynor , Miller N et al. "True" sporadic ALS associated with a novel SOD1 mutation. Ann Neurol 2002; 52: 680-683.
-
(2002)
Ann. Neurol.
, vol.52
, pp. 680-683
-
-
Alexander, M.D.1
Traynor, A.2
Miller, N.3
-
32
-
-
0029005002
-
Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn Superoxide dismutase mutation
-
Aoki M, Abe K, Houi K et al. Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn Superoxide dismutase mutation. Ann Neurol 1995; 37: 676-679.
-
(1995)
Ann. Neurol.
, vol.37
, pp. 676-679
-
-
Aoki, M.1
Abe, K.2
Houi, K.3
-
33
-
-
0030792832
-
On intra-familial clinical diversities of a familial amyotrophic lateral sclerosis with a point mutation of Cu/Zn superoxide dismutase (Asn86-Ser)
-
Maeda T, Kurahashi K, Matsunaga M et al. On intra-familial clinical diversities of a familial amyotrophic lateral sclerosis with a point mutation of Cu/Zn superoxide dismutase (Asn86-Ser). No To Shinkei 1997; 49: 847-851.
-
(1997)
No To Shinkei
, vol.49
, pp. 847-851
-
-
Maeda, T.1
Kurahashi, K.2
Matsunaga, M.3
-
34
-
-
0034956740
-
Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without Cu/Zn superoxide dismutase mutations
-
Jacobsson J, Jonsson A, Andersen PM et al. Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without Cu/Zn superoxide dismutase mutations. Brain 2001; 124: 1461-1466.
-
(2001)
Brain
, vol.124
, pp. 1461-1466
-
-
Jacobsson, J.1
Jonsson, A.2
Andersen, P.M.3
-
35
-
-
0029010496
-
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in Cu/Zn superoxide dismutase
-
Andersen PM, Nilsson P, Ala-Hurula V et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in Cu/Zn 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
-
36
-
-
0031949024
-
A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS
-
Morita M, Abe K, Takahashi M et al. A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS. Eur J Neurol 1998; 5: 389-392.
-
(1998)
Eur. J. Neurol.
, vol.5
, pp. 389-392
-
-
Morita, M.1
Abe, K.2
Takahashi, M.3
-
37
-
-
0028123297
-
Identification of a new missense mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD1) gene in a family with amyotrophic lateral sclerosis
-
Elshafey A, Lanyon WG, Connor JM. Identification of a new missense mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD1) gene in a family with amyotrophic lateral sclerosis. Hum Mol Genet 1994; 2: 363-364.
-
(1994)
Hum. Mol. Genet.
, vol.2
, pp. 363-364
-
-
Elshafey, A.1
Lanyon, W.G.2
Connor, J.M.3
-
38
-
-
0031458389
-
Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene
-
Kawata A, Kato S, Hayashi H, Hirai S. Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene. J Neurol Sci 1997; 153: 82-85.
-
(1997)
J. Neurol. Sci.
, vol.153
, pp. 82-85
-
-
Kawata, A.1
Kato, S.2
Hayashi, H.3
Hirai, S.4
-
39
-
-
0343537868
-
Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis
-
Hosler BA, Nicholson GA, Sapp PC et al. Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis. Neuromusc Disord 1996; 6: 361-366.
-
(1996)
Neuromusc. Disord.
, vol.6
, pp. 361-366
-
-
Hosler, B.A.1
Nicholson, G.A.2
Sapp, P.C.3
-
40
-
-
4244025717
-
Cu/Zn superoxide dismutase 1 and ALS: A population analysis
-
Traynor BJ, Corr B, Frost E et al. Cu/Zn superoxide dismutase 1 and ALS: a population analysis. J Neurology 1999; 246 Suppl. 1: S60.
-
(1999)
J. Neurology
, vol.246
, Issue.SUPPL. 1
-
-
Traynor, B.J.1
Corr, B.2
Frost, E.3
-
41
-
-
0035136084
-
Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family
-
Hand CK, Mayeux-Portas V, Khoris J et al. Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. Ann Neurol 2001; 49: 267-271.
-
(2001)
Ann. Neurol.
, vol.49
, pp. 267-271
-
-
Hand, C.K.1
Mayeux-Portas, V.2
Khoris, J.3
-
43
-
-
0029036463
-
An improved protocol for the analysis of SOD1 mutations, and a new mutation in exon 4
-
Yulug IG, Katsanis N, de Belleroche J et al. An improved protocol for the analysis of SOD1 mutations, and a new mutation in exon 4. Hum Mol Genet 1995; 4: 1101-1104.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1101-1104
-
-
Yulug, I.G.1
Katsanis, N.2
de Belleroche, J.3
-
44
-
-
0027944708
-
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient
-
Jones CT, Shaw PJ, Chari G, Brock DJH. Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. Mol Cellul Probes 1994; 8: 329-330.
-
(1994)
Mol. Cellul. Probes
, vol.8
, pp. 329-330
-
-
Jones, C.T.1
Shaw, P.J.2
Chari, G.3
Brock, D.J.H.4
-
45
-
-
0029983886
-
Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations
-
Abe K, Aoki M, Ikeda M et al. Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations. J Neurol Sci 1996; 136: 108-116.
-
(1996)
J. Neurol. Sci.
, vol.136
, pp. 108-116
-
-
Abe, K.1
Aoki, M.2
Ikeda, M.3
-
46
-
-
0037971088
-
-
personal communication
-
Andersen PM, personal communication, 2000.
-
(2000)
-
-
Andersen, P.M.1
-
47
-
-
0031027733
-
A novel mutation of SOD1 (Gly108Val) in familial amyotrophic lateral sclerosis
-
Orrell RW, Jabgood JJ, Shepherd DI et al. A novel mutation of SOD1 (Gly108Val) in familial amyotrophic lateral sclerosis. Eur J Neurol 1997; 4: 48-51.
-
(1997)
Eur. J. Neurol.
, vol.4
, pp. 48-51
-
-
Orrell, R.W.1
Jabgood, J.J.2
Shepherd, D.I.3
-
48
-
-
0028601342
-
Autosomal dominant amyotrophic lateral sclerosis: A novel mutation in the Cu/Zn superoxide dismutase-1 gene
-
Kostrzewa M, Burck-Lehmann U, Müller U. Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene. Hum Mol Genet 1994; 3: 2261-2262.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 2261-2262
-
-
Kostrzewa, M.1
Burck-Lehmann, U.2
Müller, U.3
-
49
-
-
0034636120
-
Autonomic failure in ALS with novel SOD1 gene mutation
-
Shimizu T, Kawata A, Kato S et al. Autonomic failure in ALS with novel SOD1 gene mutation. Neurology 2000; 54: 1534-1537.
-
(2000)
Neurology
, vol.54
, pp. 1534-1537
-
-
Shimizu, T.1
Kawata, A.2
Kato, S.3
-
50
-
-
0028067985
-
A two basepair deletion in the SOD1 gene causes familial amyotrophic lateral sclerosis
-
Pramatarova A, Goto J, Nanba E et al. A two basepair deletion in the SOD1 gene causes familial amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 2061-2062.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 2061-2062
-
-
Pramatarova, A.1
Goto, J.2
Nanba, E.3
-
51
-
-
0035881980
-
A novel SOD1 gene mutation in familial ALS with low penetrance in females
-
Murakami T, Warita H, Hayashi T et al. A novel SOD1 gene mutation in familial ALS with low penetrance in females. J Neurol Sci 2001; 189: 45-47.
-
(2001)
J. Neurol. Sci.
, vol.189
, pp. 45-47
-
-
Murakami, T.1
Warita, H.2
Hayashi, T.3
-
52
-
-
0031128772
-
Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: Identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis
-
Zu JS, Deng H-X, Lo TP et al. Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis. Neurogenetics 1997; 1: 65-71.
-
(1997)
Neurogenetics
, vol.1
, pp. 65-71
-
-
Zu, J.S.1
Deng, H.-X.2
Lo, T.P.3
-
53
-
-
23544462828
-
Novel 4-bp insertion in the Cu/Zn superoxide dismutase (SOD1) gene associated with familial amyotrophic lateral sclerosis
-
Hansen C, Gredal O, Werdelin L et al. Novel 4-bp insertion in the Cu/Zn superoxide dismutase (SOD1) gene associated with familial amyotrophic lateral sclerosis. Hum Mutation 1998 Suppl. 1: S327-8.
-
(1998)
Hum. Mutation
, Issue.SUPPL. 1
-
-
Hansen, C.1
Gredal, O.2
Werdelin, L.3
-
54
-
-
0030945491
-
Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for Cu/Zn superoxide dismutase in UK families with amyotrophic lateral sclerosis
-
Orrell RW, Habgood JJ, Gardiner I et al. Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for Cu/Zn superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology 1997; 48: 746-751.
-
(1997)
Neurology
, vol.48
, pp. 746-751
-
-
Orrell, R.W.1
Habgood, J.J.2
Gardiner, I.3
-
55
-
-
16944364061
-
A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease
-
Watanabe M, Aoki M, Abe K et al. A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease. Hum Mutation 1997; 9: 69-71.
-
(1997)
Hum. Mutation
, vol.9
, pp. 69-71
-
-
Watanabe, M.1
Aoki, M.2
Abe, K.3
-
56
-
-
0038308360
-
Les anomalies du gène superoxyde dismutase 1 dans la sclérose latérale amyotrophique familiale: Corrélations phénotype-génotype et implications pratiques
-
(in press)
-
Jafari-Schluep HF, Khoris J, Mayeux-Portas V et al. Les anomalies du gène superoxyde dismutase 1 dans la sclérose latérale amyotrophique familiale: corrélations phénotype-génotype et implications pratiques. Rev Neurol 2003. (in press).
-
(2003)
Rev. Neurol.
-
-
Jafari-Schluep, H.F.1
Khoris, J.2
Mayeux-Portas, V.3
-
57
-
-
0028918944
-
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
-
Pramatarova A, Figlewicz DA, Krizus A et al. Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet 1995; 56: 592-596.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 592-596
-
-
Pramatarova, A.1
Figlewicz, D.A.2
Krizus, A.3
-
58
-
-
0037098621
-
Identification of a novel mutation in Cu/Zn SOD gene associated with familial ALS
-
Naini A, Musumeci O, Hayes L, et al. Identification of a novel mutation in Cu/Zn SOD gene associated with familial ALS. J Neurol Sci 2002; 198: 17-19.
-
(2002)
J. Neurol. Sci.
, vol.198
, pp. 17-19
-
-
Naini, A.1
Musumeci, O.2
Hayes, L.3
-
59
-
-
0029048169
-
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis
-
Sapp PC, Rosen DR, Hosler BA et al. Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis. Neuromuscular Disord 1995; 5: 353-357.
-
(1995)
Neuromuscular Disord.
, vol.5
, pp. 353-357
-
-
Sapp, P.C.1
Rosen, D.R.2
Hosler, B.A.3
-
60
-
-
0037971084
-
-
Personal communication
-
DP Keckarevic. Personal communication, 2001.
-
(2001)
-
-
Keckarevic, D.P.1
-
61
-
-
0028956222
-
A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis
-
Ikeda M, Abe K, Aoki M et al. A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 491-492.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 491-492
-
-
Ikeda, M.1
Abe, K.2
Aoki, M.3
-
62
-
-
0029977273
-
Superoxide dismutase 1: Identification of a novel mutation in a case of familial amyotrophic lateral sclerosis
-
Kostrzewa M, Damian MS, Müller U. Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis. Hum Genet 1996; 98: 48-50.
-
(1996)
Hum. Genet.
, vol.98
, pp. 48-50
-
-
Kostrzewa, M.1
Damian, M.S.2
Müller, U.3
-
63
-
-
0028987929
-
Superoxide dismutase (Glu100Gly) in a family with inherited motor neuron disease: Detection of mutant superoxide dismutase activity and the presence of heterodimers
-
Calder VL, Domigan NM, George PM et al. Superoxide dismutase (Glu100Gly) in a family with inherited motor neuron disease: detection of mutant superoxide dismutase activity and the presence of heterodimers. Neurosci Lett 1995; 189: 143-146.
-
(1995)
Neurosci. Lett.
, vol.189
, pp. 143-146
-
-
Calder, V.L.1
Domigan, N.M.2
George, P.M.3
-
64
-
-
9544236295
-
Autosomal recessive adult-onset ALS associated with homozygosity for Asp90Ala Cu/Zn superoxide dismutase mutation. A clinical and genealogical study of 36 patients
-
Andersen PM, Forsgren L, Binzer M et al. Autosomal recessive adult-onset ALS associated with homozygosity for Asp90Ala Cu/Zn superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain 1996; 119: 1153-1172.
-
(1996)
Brain
, vol.119
, pp. 1153-1172
-
-
Andersen, P.M.1
Forsgren, L.2
Binzer, M.3
-
65
-
-
33746534237
-
Maladies du système nerveux (moelle épinière)
-
chapter 23. Paris: Octave Doin
-
Vulpian A. Maladies du système nerveux (moelle épinière). Vol 2, chapter 23. Paris: Octave Doin, 1886: 436.
-
(1886)
, vol.2
, pp. 436
-
-
Vulpian, A.1
-
67
-
-
0036885011
-
D90A-SOD1 mediated amyotrophic lateral Sclerosis: A single founder for all cases with evidence for a Cis-acting disease modifer in the recessive haplotype
-
Parton MJ, Broom W, Andersen PM et al. D90A-SOD1 mediated amyotrophic lateral Sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifer in the recessive haplotype. Human Mutation 2002; 20: 473.
-
(2002)
Human Mutation
, vol.20
, pp. 473
-
-
Parton, M.J.1
Broom, W.2
Andersen, P.M.3
-
68
-
-
0028815433
-
Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons
-
Pardo CA, Xu Z, Borchelt DR et al. Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons. Proc Natl Acad Sci USA 1995; 92: 954-958.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 954-958
-
-
Pardo, C.A.1
Xu, Z.2
Borchelt, D.R.3
-
69
-
-
0035516124
-
From Charcot to Lougehrig: Deciphering selective motor neuron death in ALS
-
Cleveland DW, Rothstein JD. From Charcot to Lougehrig: deciphering selective motor neuron death in ALS. Nat Rev Neurosci 2001; 2: 806-819.
-
(2001)
Nat. Rev. Neurosci.
, vol.2
, pp. 806-819
-
-
Cleveland, D.W.1
Rothstein, J.D.2
-
70
-
-
0030900245
-
A familial amyotrophic lateral sclerosis-associated A4V Cu/Zn superoxide dismutase mutant has a lower Km for hydrogen peroxide. Correlation between clinical severity and the Km value
-
Yim HS, Kang JH, Chock PB et al. A familial amyotrophic lateral sclerosis-associated A4V Cu/Zn superoxide dismutase mutant has a lower Km for hydrogen peroxide. Correlation between clinical severity and the Km value. J Biol Chem 1997; 272: 8861-8863.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 8861-8863
-
-
Yim, H.S.1
Kang, J.H.2
Chock, P.B.3
-
71
-
-
0027293275
-
ALS, SOD and peroxynitrite
-
Beckman JS, Carson M, Smith CD, Koppenol WH. ALS, SOD and peroxynitrite. Nature 1993; 364: 584.
-
(1993)
Nature
, vol.364
, pp. 584
-
-
Beckman, J.S.1
Carson, M.2
Smith, C.D.3
Koppenol, W.H.4
-
72
-
-
0034763797
-
Oxidative inactivation of calcineurin by Cu/Zn superoxide dismutase G93A, a mutant typical of familial amyotrophic lateral sclerosis
-
Ferri A, Gabbianelli R, Casciati A et al. Oxidative inactivation of calcineurin by Cu/Zn superoxide dismutase G93A, a mutant typical of familial amyotrophic lateral sclerosis. J Neurochem 2001; 79: 531-538.
-
(2001)
J. Neurochem.
, vol.79
, pp. 531-538
-
-
Ferri, A.1
Gabbianelli, R.2
Casciati, A.3
-
73
-
-
0029053881
-
An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria
-
Wong PC, Pardo CA, Borchelt DR et al. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 1995; 14: 1105-1116.
-
(1995)
Neuron
, vol.14
, pp. 1105-1116
-
-
Wong, P.C.1
Pardo, C.A.2
Borchelt, D.R.3
-
74
-
-
0031012304
-
Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions
-
Kunst CB, Mezey E, Brownstein MJ, Patterson D. Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions. Nat Genet 1997; 15: 91-94.
-
(1997)
Nat. Genet.
, vol.15
, pp. 91-94
-
-
Kunst, C.B.1
Mezey, E.2
Brownstein, M.J.3
Patterson, D.4
-
76
-
-
0030777650
-
Aggregation of mutant Cu/Zn superoxide dismutase proteins in a culture model of ALS
-
Durham HD, Roy J, Deng L, Figlewicz DA. Aggregation of mutant Cu/Zn superoxide dismutase proteins in a culture model of ALS. J Neuropathol Exp Neurol 1997; 56: 523-530.
-
(1997)
J. Neuropathol. Exp. Neurol.
, vol.56
, pp. 523-530
-
-
Durham, H.D.1
Roy, J.2
Deng, L.3
Figlewicz, D.A.4
-
77
-
-
0037168643
-
Common denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: Decreased stability of the apostate
-
Lindberg MJ, Tibell L, Oliveberg M. Common denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: decreased stability of the apostate. Proc Natl Acad Sci USA 2002; 99: 16607-16612.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 16607-16612
-
-
Lindberg, M.J.1
Tibell, L.2
Oliveberg, M.3
-
78
-
-
0037458564
-
Familial ALS mutants of Cu/Zn superoxide dismutase are susceptible to disulfide reduction
-
Tiwari A, Hayward LJ. Familial ALS mutants of Cu/Zn superoxide dismutase are susceptible to disulfide reduction. J Biol Chem 2003; 278: 5984-5992.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 5984-5992
-
-
Tiwari, A.1
Hayward, L.J.2
-
79
-
-
0036212119
-
Mutant SOD1 causes motor neuron disease independent of copper chaperone-mediated copper loading
-
Subramaniam JR, Lyons WE, Liu J et al. Mutant SOD1 causes motor neuron disease independent of copper chaperone-mediated copper loading. Nat Neurosci 2002; 5: 301-307.
-
(2002)
Nat. Neurosci.
, vol.5
, pp. 301-307
-
-
Subramaniam, J.R.1
Lyons, W.E.2
Liu, J.3
-
80
-
-
0035085455
-
Differential expression of 14 genes in ALS spinal cord detected using gridded cDNA arrays
-
Malaspina A, Kaushik N, Belleroche J de. Differential expression of 14 genes in ALS spinal cord detected using gridded cDNA arrays. J Neurochemistry 2001; 77: 132-145.
-
(2001)
J. Neurochemistry
, vol.77
, pp. 132-145
-
-
Malaspina, A.1
Kaushik, N.2
de Belleroche, J.3
-
81
-
-
0031577722
-
Stability of mutant superoxide dismutase1 associated with familial ALS determines the manner of copper release and induction of thioredoxin in erythrocytes
-
Ogawa Y, Kosaka H, Nakanishi T et al. Stability of mutant superoxide dismutase1 associated with familial ALS determines the manner of copper release and induction of thioredoxin in erythrocytes. Biochem Biophys Res Commun 1997; 241: 251-257.
-
(1997)
Biochem. Biophys. Res. Commun.
, vol.241
, pp. 251-257
-
-
Ogawa, Y.1
Kosaka, H.2
Nakanishi, T.3
-
82
-
-
0034785483
-
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
-
Hadano S, Hand CK, Osuga H et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001; 29: 166-173.
-
(2001)
Nat. Genet.
, vol.29
, pp. 166-173
-
-
Hadano, S.1
Hand, C.K.2
Osuga, H.3
-
83
-
-
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 HX et al. 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
-
84
-
-
0023836298
-
Hexosaminidase A activity and amyotrophic lateral sclerosis
-
Gudesblatt M, Ludman MD, Cohen JA et al. Hexosaminidase A activity and amyotrophic lateral sclerosis. Muscle Nerve 1988; 11: 227-230.
-
(1988)
Muscle Nerve
, vol.11
, pp. 227-230
-
-
Gudesblatt, M.1
Ludman, M.D.2
Cohen, J.A.3
-
85
-
-
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.
-
(1999)
Neurology
, vol.52
, pp. 1899-1901
-
-
Hayward, C.1
Colville, S.2
Swingler, R.J.3
Brock, D.J.4
-
86
-
-
0032779847
-
Manganese-containing superoxide dismutase signal sequence polymorphism associated with sporadic motor neuron disease
-
van Landeghem GF, Tabatabie P, Beckman G et al. Manganese-containing superoxide dismutase signal sequence polymorphism associated with sporadic motor neuron disease. Eur J Neurol 1999; 6: 639-644.
-
(1999)
Eur. J. Neurol.
, vol.6
, pp. 639-644
-
-
van Landeghem, G.F.1
Tabatabie, P.2
Beckman, G.3
|