-
1
-
-
0029983886
-
Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations
-
Abe K., Aoki M., Ikeda M., Watanabe M., Hirai S., Itoyama Y. Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations. J Neurol Sci. 136:1996;101-108.
-
(1996)
J Neurol Sci
, vol.136
, pp. 101-108
-
-
Abe, K.1
Aoki, M.2
Ikeda, M.3
Watanabe, M.4
Hirai, S.5
Itoyama, Y.6
-
2
-
-
0032926368
-
Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis
-
Al-Chalabi A., Andersen P.M., Nilsson P., et al. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet. 8:1999;157-164.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 157-164
-
-
Al-Chalabi, A.1
Andersen, P.M.2
Nilsson, P.3
-
3
-
-
9544236295
-
Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation
-
Andersen P.M., Forsgren L., Binzer M., et al. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. Brain. 119:1996;1153-1172.
-
(1996)
Brain
, vol.119
, pp. 1153-1172
-
-
Andersen, P.M.1
Forsgren, L.2
Binzer, M.3
-
4
-
-
0030749160
-
Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia
-
Andersen P.M., Nilsson P., Keranen M.L., et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain. 120:1997;1723-1737.
-
(1997)
Brain
, vol.120
, pp. 1723-1737
-
-
Andersen, P.M.1
Nilsson, P.2
Keranen, M.L.3
-
5
-
-
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. 37:1995;676-679.
-
(1995)
Ann Neurol
, vol.37
, pp. 676-679
-
-
Aoki, M.1
Abe, K.2
Houi, K.3
-
6
-
-
0030993978
-
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis
-
Bereznai B., Winkler A., Borasio G.D., Gasser T. A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. Neuromusc Disord. 7:1997;113-116.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 113-116
-
-
Bereznai, B.1
Winkler, A.2
Borasio, G.D.3
Gasser, T.4
-
7
-
-
0028987929
-
Superoxide dismutase (glu100gly) in a family with inherited motor neuron disease: Detection of mutant superoxide dismutase activity and the presence of heterodimers
-
Calder V.L., Domigan N.M., George P.M., Donaldson I.M., Winterbourn C.C. Superoxide dismutase (glu100gly) in a family with inherited motor neuron disease: detection of mutant superoxide dismutase activity and the presence of heterodimers. Neurosci Lett. 189:1995;143-146.
-
(1995)
Neurosci Lett
, vol.189
, pp. 143-146
-
-
Calder, V.L.1
Domigan, N.M.2
George, P.M.3
Donaldson, I.M.4
Winterbourn, C.C.5
-
8
-
-
0031814006
-
Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc dismutase gene
-
Cudkowicz M.E., McKennar-Yasek D., Chen C., Hedley-Whyte E.T., Brown R.H. Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc dismutase gene. Ann Neurol. 43:1998;703-710.
-
(1998)
Ann Neurol
, vol.43
, pp. 703-710
-
-
Cudkowicz, M.E.1
McKennar-Yasek, D.2
Chen, C.3
Hedley-Whyte, E.T.4
Brown, R.H.5
-
9
-
-
0031057003
-
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
-
Cudkowicz M.E., McKennar-Yasek D., Sapp P.E., et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 41:1997;210-221.
-
(1997)
Ann Neurol
, vol.41
, pp. 210-221
-
-
Cudkowicz, M.E.1
McKennar-Yasek, D.2
Sapp, P.E.3
-
10
-
-
0027426169
-
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase
-
Deng H.X., Hentati A., Tainer J.A., et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science. 261:1993;1047-1051.
-
(1993)
Science
, vol.261
, pp. 1047-1051
-
-
Deng, H.X.1
Hentati, A.2
Tainer, J.A.3
-
11
-
-
0029003428
-
Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis
-
Deng H.X., Tainer J.A., Mitsumoto H., et al. Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis. Hum Mol Genet. 4:1995;1113-1116.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1113-1116
-
-
Deng, H.X.1
Tainer, J.A.2
Mitsumoto, H.3
-
12
-
-
0029047111
-
Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
-
Enayat Z.E., Orrell R.W., Claus A., et al. Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Hum Mol Genet. 4:1995;1239-1240.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1239-1240
-
-
Enayat, Z.E.1
Orrell, R.W.2
Claus, A.3
-
13
-
-
0028244477
-
Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis
-
Esteban J., Rosen D.R., Bowling A.C., et al. Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis. Hum Mol Genet. 3:1994;997-998.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 997-998
-
-
Esteban, J.1
Rosen, D.R.2
Bowling, A.C.3
-
14
-
-
0028001606
-
Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
-
Figlewicz D.A., Krizus A., Martinoli M.G., Meininger V., Dib M., Rouleau G.A., Julien J.P. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet. 3:1994;1757-1761.
-
(1994)
Hum Mol Genet
, vol.3
, 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
-
15
-
-
0031960868
-
Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis
-
Hayward C., Brock D.J.H., Minns R.A., Swingler R.J. Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis. J Med Genet. 35:1998;174-176.
-
(1998)
J Med Genet
, vol.35
, pp. 174-176
-
-
Hayward, C.1
Brock, D.J.H.2
Minns, R.A.3
Swingler, R.J.4
-
16
-
-
0032414948
-
Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers
-
Hentati A., Ouahchi K., Pericak-Vance M.A., et al. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics. 2:1998;55-60.
-
(1998)
Neurogenetics
, vol.2
, pp. 55-60
-
-
Hentati, A.1
Ouahchi, K.2
Pericak-Vance, M.A.3
-
17
-
-
0028132231
-
A new variant Cu/Zn superoxide dismutase (Val7Glu) 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 (Val7Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis. Biochem Biophys Res Commun. 204:1994;572-577.
-
(1994)
Biochem Biophys Res Commun
, vol.204
, pp. 572-577
-
-
Hirano, M.1
Fujii, J.2
Nagai, Y.3
-
18
-
-
0343537868
-
Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis
-
Hosler B.A., Nicholson G.A., Sapp P.C., et al. Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis. Neuromusc Disord. 6:1996;361-366.
-
(1996)
Neuromusc Disord
, vol.6
, pp. 361-366
-
-
Hosler, B.A.1
Nicholson, G.A.2
Sapp, P.C.3
-
19
-
-
0032443063
-
Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33
-
Hosler N.A., Sapp P.C., Berger R., et al. Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33. Neurogenetics. 2:1998;34-42.
-
(1998)
Neurogenetics
, vol.2
, pp. 34-42
-
-
Hosler, N.A.1
Sapp, P.C.2
Berger, R.3
-
20
-
-
0029792449
-
Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: Pathological and immunocytochemical changes
-
Ince P.G., Shaw P.J., Slade J.Y., Jones C., Hudgson P. Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes. Acta Neuropathol. 92:1996;395-403.
-
(1996)
Acta Neuropathol
, vol.92
, pp. 395-403
-
-
Ince, P.G.1
Shaw, P.J.2
Slade, J.Y.3
Jones, C.4
Hudgson, P.5
-
21
-
-
0031723557
-
Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: Molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS
-
Ince P.G., Tomkins J., Slade J.Y., Thatcher N.M., Shaw P.J. Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS. J Neuropathol Exp Neurol. 57:1998;895-904.
-
(1998)
J Neuropathol Exp Neurol
, vol.57
, pp. 895-904
-
-
Ince, P.G.1
Tomkins, J.2
Slade, J.Y.3
Thatcher, N.M.4
Shaw, P.J.5
-
22
-
-
0030780350
-
Copper/zinc 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 Z.E., Chioza B., Leigh P.N., Morrison K.E. Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation. Ann Neurol. 42:1997;803-807.
-
(1997)
Ann Neurol
, vol.42
, pp. 803-807
-
-
Jackson, M.1
Al-Chalabi, A.2
Enayat, Z.E.3
Chioza, B.4
Leigh, P.N.5
Morrison, K.E.6
-
23
-
-
0028916910
-
Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients
-
Jones C.T., Swingler R.J., Simpson S.A., Brock D.J.H. Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J Med Genet. 32:1995;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
-
24
-
-
0029840428
-
Familial amyotrophic lateral sclerosis with a two base pair deletion in superoxide dismutase 1 gene: Multisystem degeneration with intracytoplasmic hyaline inclusions in astroctyes
-
Kato S., Shimoda M., Watanabe Y., Nakashima K., Takahashi K., Ohama E. Familial amyotrophic lateral sclerosis with a two base pair deletion in superoxide dismutase 1 gene: multisystem degeneration with intracytoplasmic hyaline inclusions in astroctyes. J Neuropathol Exp Neurol. 55:1996;1089-1101.
-
(1996)
J Neuropathol Exp Neurol
, vol.55
, pp. 1089-1101
-
-
Kato, S.1
Shimoda, M.2
Watanabe, Y.3
Nakashima, K.4
Takahashi, K.5
Ohama, E.6
-
25
-
-
0028771134
-
Leu106Val (CTC-GTC) mutation of superoxide dismutase 1 gene in patient with familial amyotrophic lateral sclerosis in Japan
-
Kawamata J., Hasegawa H., Shimohama S., Kimura J., Tanaka S., Ueda K. Leu106Val (CTC-GTC) mutation of superoxide dismutase 1 gene in patient with familial amyotrophic lateral sclerosis in Japan. Lancet. 343:1994;1501.
-
(1994)
Lancet
, vol.343
, pp. 1501
-
-
Kawamata, J.1
Hasegawa, H.2
Shimohama, S.3
Kimura, J.4
Tanaka, S.5
Ueda, K.6
-
26
-
-
0030961866
-
Novel G16S (GGC-AGC) mutation in the SOD1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis
-
Kawamata J., Shimohama S., Takano S., Harada K., Ueda K., Kimura J. Novel G16S (GGC-AGC) mutation in the SOD1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis. Hum Mutat. 9:1997;356-358.
-
(1997)
Hum Mutat
, vol.9
, pp. 356-358
-
-
Kawamata, J.1
Shimohama, S.2
Takano, S.3
Harada, K.4
Ueda, K.5
Kimura, J.6
-
27
-
-
0343205032
-
-
referenced in Siddique T, Denge, H.-X. Genetics of amyotrophic lateral sclerosis. Hum Mol Genet 1996;5:1465-1470
-
Kawamata J., Shimohama S., Hasegawa H., et al. Abstract of Eleventh TMIN International Symposium. 1995;. referenced in Siddique T, Denge, H.-X. Genetics of amyotrophic lateral sclerosis. Hum Mol Genet 1996;5:1465-1470.
-
(1995)
Abstract of Eleventh TMIN International Symposium
-
-
Kawamata, J.1
Shimohama, S.2
Hasegawa, H.3
-
28
-
-
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. 153:1997;82-85.
-
(1997)
J Neurol Sci
, vol.153
, pp. 82-85
-
-
Kawata, A.1
Kato, S.2
Hayashi, H.3
Hirai, S.4
-
29
-
-
0031215411
-
A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity
-
Kikugawa K., Nakano R., Inuzuka T., et al. A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity. Japan. Neurogenetics. 1:1997;113-115.
-
(1997)
Japan. Neurogenetics
, vol.1
, pp. 113-115
-
-
Kikugawa, K.1
Nakano, R.2
Inuzuka, T.3
-
30
-
-
0028601342
-
Autosomal dominant amyotrophic lateral sclerosis: A novel mutation in the Cu/Zn superoxide dismutase 1 gene
-
Kostrzewa M., Burck-Lehmann U., Muller U. Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase 1 gene. Hum Mol Genet. 3:1994;2261-2262.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2261-2262
-
-
Kostrzewa, M.1
Burck-Lehmann, U.2
Muller, U.3
-
31
-
-
0029977273
-
Superoxide dismutase 1: Identification of a novel mutation in a case of familial amyotrophic lateral sclerosis
-
Kostrzewa M., Damian M.S., Muller U. Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis. Hum Genet. 98:1996;48-50.
-
(1996)
Hum Genet
, vol.98
, pp. 48-50
-
-
Kostrzewa, M.1
Damian, M.S.2
Muller, U.3
-
32
-
-
0021921322
-
Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase
-
Levanon D., Lieman-Hurwitz J., Dafni N., et al. Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase. EMBO J. 4:1985;77-84.
-
(1985)
EMBO J
, vol.4
, pp. 77-84
-
-
Levanon, D.1
Lieman-Hurwitz, J.2
Dafni, N.3
-
33
-
-
0030052392
-
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis 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 amyotrophic lateral sclerosis in Japan. Neurosci Lett. 205:1996;79-82.
-
(1996)
Neurosci Lett
, vol.205
, pp. 79-82
-
-
Morita, M.1
Aoki, M.2
Abe, K.3
-
34
-
-
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. 5:1998;389-392.
-
(1998)
Eur J Neurol
, vol.5
, pp. 389-392
-
-
Morita, M.1
Abe, K.2
Takahashi, M.3
-
36
-
-
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. Biochem Biophys Res Commun. 200:1994;695-703.
-
(1994)
Biochem Biophys Res Commun
, vol.200
, pp. 695-703
-
-
Nakano, R.1
Sato, S.2
Inuzuka, T.3
-
37
-
-
0029771677
-
Familial amyotrophic lateral sclerosis showing variable clinical courses with Leu84Val mutation of Cu/Zn superoxide dismutase
-
Ohnishi A., Miyazaki S., Murai Y., Ueno S., Sakai H. Familial amyotrophic lateral sclerosis showing variable clinical courses with Leu84Val mutation of Cu/Zn superoxide dismutase. Clin Neurol. 36:1996;485-487.
-
(1996)
Clin Neurol
, vol.36
, pp. 485-487
-
-
Ohnishi, A.1
Miyazaki, S.2
Murai, Y.3
Ueno, S.4
Sakai, H.5
-
38
-
-
0028941313
-
A novel SOD mutant and ALS
-
Orrell R., deBelleroche J., Marklund S., Bowe F., Hallewell R. A novel SOD mutant and ALS. Nature. 374:1995;504-505.
-
(1995)
Nature
, vol.374
, pp. 504-505
-
-
Orrell, R.1
Debelleroche, J.2
Marklund, S.3
Bowe, F.4
Hallewell, R.5
-
39
-
-
0029080304
-
Familial amyotrophic lateral sclerosis with a point mutation of SOD1: Intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles
-
Orrell R.W., King A.W., Hilton D.A., et al. Familial amyotrophic lateral sclerosis with a point mutation of SOD1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles. J Neurol Neurosurg Psychiatry. 59:1995;266-270.
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.59
, pp. 266-270
-
-
Orrell, R.W.1
King, A.W.2
Hilton, D.A.3
-
40
-
-
0029945513
-
Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis
-
Orrell R.W., Habgood J., Rudge P., Lane R.J.M., deBelleroche J.S. Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis. Ann Neurol. 39:1996;810-812.
-
(1996)
Ann Neurol
, vol.39
, pp. 810-812
-
-
Orrell, R.W.1
Habgood, J.2
Rudge, P.3
Lane, R.J.M.4
Debelleroche, J.S.5
-
41
-
-
0031443762
-
Familial ALS is associated with mutations in all exons of SOD1: A novel mutation in exon 3 (Gly72Ser)
-
Orrell R.W., Marklund S.L., deBelleroche J.S. Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). J Neurol Sci. 153:1997;46-49.
-
(1997)
J Neurol Sci
, vol.153
, pp. 46-49
-
-
Orrell, R.W.1
Marklund, S.L.2
Debelleroche, J.S.3
-
42
-
-
0030945491
-
Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
-
Orrell R.W., Habgood J.J., Gardiner I., et al. Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology. 48:1997;746-751.
-
(1997)
Neurology
, vol.48
, pp. 746-751
-
-
Orrell, R.W.1
Habgood, J.J.2
Gardiner, I.3
-
43
-
-
0031027733
-
A novel mutation of SOD1 (Gly108Val) in familial amyotrophic lateral sclerosis
-
Orrell R.W., Habgood J.J., Shepherd D.I., Donnai D., deBelleroche J. A novel mutation of SOD1 (Gly108Val) in familial amyotrophic lateral sclerosis. Eur J Neurol. 4:1997;48-51.
-
(1997)
Eur J Neurol
, vol.4
, pp. 48-51
-
-
Orrell, R.W.1
Habgood, J.J.2
Shepherd, D.I.3
Donnai, D.4
Debelleroche, J.5
-
44
-
-
0028918944
-
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
-
Pramatarova A., Figlewicz D.A., 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. 56:1995;592-596.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 592-596
-
-
Pramatarova, A.1
Figlewicz, D.A.2
Krizus, A.3
-
45
-
-
0028199849
-
SOD1 missense mutation in an Italian family with ALS
-
Rainero I., Pinessi L., Tsuda T., et al. SOD1 missense mutation in an Italian family with ALS. Neurology. 44:1994;347-349.
-
(1994)
Neurology
, vol.44
, pp. 347-349
-
-
Rainero, I.1
Pinessi, L.2
Tsuda, T.3
-
46
-
-
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 J.J., Matthijs G. D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology. 47:1996;1336-1339.
-
(1996)
Neurology
, vol.47
, pp. 1336-1339
-
-
Robberecht, W.1
Aguirre, T.2
Van Den Bosch, L.3
Tilkin, P.4
Cassiman, J.J.5
Matthijs, G.6
-
47
-
-
0027401203
-
Mutations in Cu/Zn superoxide dismutase are associated with familial amyotrophic lateral sclerosis
-
Rosen D.R., Siddique T., Patterson D., et al. Mutations in Cu/Zn superoxide dismutase are associated with familial amyotrophic lateral sclerosis. Nature. 362:1993;59-62.
-
(1993)
Nature
, vol.362
, pp. 59-62
-
-
Rosen, D.R.1
Siddique, T.2
Patterson, D.3
-
48
-
-
0030034545
-
SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis
-
Rouleau G.A., Clark A.W., Rooke K., et al. SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis. Ann Neurol. 39:1996;128-131.
-
(1996)
Ann Neurol
, vol.39
, pp. 128-131
-
-
Rouleau, G.A.1
Clark, A.W.2
Rooke, K.3
-
49
-
-
0031936175
-
Mutations in all five exons of SOD-1 may cause ALS
-
Shaw C.E., Enayat Z.E., Chioza B.A., et al. Mutations in all five exons of SOD-1 may cause ALS. Ann Neurol. 43:1998;390-394.
-
(1998)
Ann Neurol
, vol.43
, pp. 390-394
-
-
Shaw, C.E.1
Enayat, Z.E.2
Chioza, B.A.3
-
51
-
-
0029810307
-
Genetics of amyotrophic lateral sclerosis
-
Siddique T., Deng H.X. Genetics of amyotrophic lateral sclerosis. Hum Mol Genet. 5:1996;1465-1470.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1465-1470
-
-
Siddique, T.1
Deng, H.X.2
-
52
-
-
0028598738
-
'Sporadic' motoneuron disease due to familial SOD1 mutation with low penetrance
-
Suthers G., Laing N., Wilton S., Dorosz S., Waddy H. 'Sporadic' motoneuron disease due to familial SOD1 mutation with low penetrance. Lancet. 334:1994;1773.
-
(1994)
Lancet
, vol.334
, pp. 1773
-
-
Suthers, G.1
Laing, N.2
Wilton, S.3
Dorosz, S.4
Waddy, H.5
-
53
-
-
0028106044
-
Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene
-
Takahashi H., Makifuchi T., Nakano R., et al. Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene. Acta Neuropathol. 88:1994;185-188.
-
(1994)
Acta Neuropathol.
, vol.88
, pp. 185-188
-
-
Takahashi, H.1
Makifuchi, T.2
Nakano, R.3
-
54
-
-
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 Mutat. 9:1997;69-71.
-
(1997)
Hum Mutat
, vol.9
, pp. 69-71
-
-
Watanabe, M.1
Aoki, M.2
Abe, K.3
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