-
1
-
-
0000280462
-
Deux cas d'atrophie musculaire progressive avec lésions de la substance grise et des faisceaux antéro-latéraux de la moelle épinière
-
Charcot JM, Jeffrey A. Deux cas d'atrophie musculaire progressive avec lésions de la substance grise et des faisceaux antéro-latéraux de la moelle épinière. Arch Physiol Neurol Path 1869;2:744-60.
-
(1869)
Arch Physiol Neurol Path
, vol.2
, pp. 744-760
-
-
Charcot, J.M.1
Jeffrey, A.2
-
2
-
-
0027401203
-
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
-
Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, 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
Figlewicz, D.A.4
Sapp, P.5
Hentati, A.6
-
3
-
-
0022443737
-
Familial adult motor neuron disease: Amyotrophic lateral sclerosis
-
Mulder DW, Kurland LT, Offord KP, Beard CM. Familial adult motor neuron disease: Amyotrophic lateral sclerosis. Neurology 1986;366:511-7.
-
(1986)
Neurology
, vol.366
, pp. 511-517
-
-
Mulder, D.W.1
Kurland, L.T.2
Offord, K.P.3
Beard, C.M.4
-
4
-
-
0025295206
-
Autosomal dominant adult amyotrophic lateral sclerosis
-
Veltema AN, Roos RAC, Bruyn GW. Autosomal dominant adult amyotrophic lateral sclerosis. J Neurol Sci 1990;97: 93-115.
-
(1990)
J Neurol Sci
, vol.97
, pp. 93-115
-
-
Veltema, A.N.1
Roos, R.A.C.2
Bruyn, G.W.3
-
5
-
-
0023918762
-
Comparison of sporadic and familial disease amongst 580 cases of motor neurone disease
-
Li T-M, Alberman E, Swash M. Comparison of sporadic and familial disease amongst 580 cases of motor neurone disease. J Neurol Neurosurg Psychiatry 1988;51:778-84.
-
(1988)
J Neurol Neurosurg Psychiatry
, vol.51
, pp. 778-784
-
-
Li, T.-M.1
Alberman, E.2
Swash, M.3
-
7
-
-
0028068186
-
Free radicals, antioxidants, and human disease: Curiosity, cause, or consequence?
-
Halliwell B. Free radicals, antioxidants, and human disease: curiosity, cause, or consequence? Lancet 1994;344: 721-4.
-
(1994)
Lancet
, vol.344
, pp. 721-724
-
-
Halliwell, B.1
-
8
-
-
0016816804
-
The interaction of bovine erythrocyte superoxide dismutase with hydrogen peroxide: Inactivation of the enzyme
-
Hodgson EK, Fridovich I. The interaction of bovine erythrocyte superoxide dismutase with hydrogen peroxide: inactivation of the enzyme. Biochemistry 1975;14:5294-9.
-
(1975)
Biochemistry
, vol.14
, pp. 5294-5299
-
-
Hodgson, E.K.1
Fridovich, I.2
-
9
-
-
0027456505
-
Enzyme function of copper, zinc superoxide dismutase as a free radical generator
-
Yim MB, Chock PB, Stadtman ER. Enzyme function of copper, zinc superoxide dismutase as a free radical generator. J Biol Chem 1993;268:4099-105.
-
(1993)
J Biol Chem
, vol.268
, pp. 4099-4105
-
-
Yim, M.B.1
Chock, P.B.2
Stadtman, E.R.3
-
10
-
-
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
-
11
-
-
0029671220
-
Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis
-
Wiedau-Pazos M, Goto JJ, Rabizadeh S, Grall EB, Roe JA, Lee MK, Valentine JS, Bredesen DE. Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis. Science 1996;271:515-8.
-
(1996)
Science
, vol.271
, pp. 515-518
-
-
Wiedau-Pazos, M.1
Goto, J.J.2
Rabizadeh, S.3
Grall, E.B.4
Roe, J.A.5
Lee, M.K.6
Valentine, J.S.7
Bredesen, D.E.8
-
12
-
-
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, Wigderson M, Sherman L, Bernstein Y, et al. Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase. EMBO J 1985;4:77-84.
-
(1985)
EMBO J
, vol.4
, pp. 77-84
-
-
Levanon, D.1
Lieman-Hurwitz, J.2
Dafni, N.3
Wigderson, M.4
Sherman, L.5
Bernstein, Y.6
-
13
-
-
0027426169
-
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase
-
Deng H-X, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung W-Y. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 1993; 261:1047-51.
-
(1993)
Science
, vol.261
, pp. 1047-1051
-
-
Deng, H.-X.1
Hentati, A.2
Tainer, J.A.3
Iqbal, Z.4
Cayabyab, A.5
Hung, W.-Y.6
-
14
-
-
0027452090
-
Mild ALS in Japan associated with novel SOD mutation
-
Erratum Nature Genet 1994;6:225
-
Aoki M, Ogasawara M, Matsubara Y, Narisawa K, Nakamura S, Itoyama Y, Abe K. Mild ALS in Japan associated with novel SOD mutation. Nature Genet 1993:5:323-4; Erratum Nature Genet 1994;6:225.
-
(1993)
Nature Genet
, vol.5
, pp. 323-324
-
-
Aoki, M.1
Ogasawara, M.2
Matsubara, Y.3
Narisawa, K.4
Nakamura, S.5
Itoyama, Y.6
Abe, K.7
-
15
-
-
7844225076
-
Different phenotype and clinical course in a family with motor neuron disease
-
Kurahashi K, Okushima T, Kimura K, Narita S, Matsunaga M. Different phenotype and clinical course in a family with motor neuron disease. Medical Journal of Aomori 1993;38:142-6.
-
(1993)
Medical Journal of Aomori
, vol.38
, pp. 142-146
-
-
Kurahashi, K.1
Okushima, T.2
Kimura, K.3
Narita, S.4
Matsunaga, M.5
-
16
-
-
0028204413
-
A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis
-
Nakano R, Sato S, Inuzuka T, Sakimura K, Mishina M, Takahashi H, et al. A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. Biochem Biophys Res Commun 1994;200: 695-703.
-
(1994)
Biochem Biophys Res Commun
, vol.200
, pp. 695-703
-
-
Nakano, R.1
Sato, S.2
Inuzuka, T.3
Sakimura, K.4
Mishina, M.5
Takahashi, H.6
-
18
-
-
0028123297
-
Identifaction of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase SOD-1 gene in a family with amyotrophic lateral sclerosis
-
Elshafey A, Lanyon WG, Connor JM. Identifaction of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase SOD-1 gene in a family with amyotrophic lateral sclerosis. Hum Mol Genet 1994;3:363-4.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 363-364
-
-
Elshafey, A.1
Lanyon, W.G.2
Connor, J.M.3
-
19
-
-
0028244477
-
Identifaction 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, Sapp P, McKenna-Yasek D, O'Regan JP, et al. Identifaction 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;3:997-8.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 997-998
-
-
Esteban, J.1
Rosen, D.R.2
Bowling, A.C.3
Sapp, P.4
McKenna-Yasek, D.5
O'Regan, J.P.6
-
20
-
-
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;3:2261-2.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2261-2262
-
-
Kostrzewa, M.1
Burck-Lehmann, U.2
Müller, U.3
-
21
-
-
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, Ogasawara M, Matsubara Y, Kobayashi T, 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;37:676-9.
-
(1995)
Ann Neurol
, vol.37
, pp. 676-679
-
-
Aoki, M.1
Abe, K.2
Houi, K.3
Ogasawara, M.4
Matsubara, Y.5
Kobayashi, T.6
-
22
-
-
0028918944
-
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
-
Pramatorova A, Figlewicz DA, Krizus A, Han FY, Ceballos-Picot I, Nicole 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;56:592-6.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 592-596
-
-
Pramatorova, A.1
Figlewicz, D.A.2
Krizus, A.3
Han, F.Y.4
Ceballos-Picot, I.5
Nicole, A.6
-
23
-
-
0029010496
-
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase
-
Andersen PM, Nilsson P, Ala-Hurula V, Keränen M-L, Tarvainen I, Haltia T, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nature Genetics 1995; 10:61-6.
-
(1995)
Nature Genetics
, vol.10
, pp. 61-66
-
-
Andersen, P.M.1
Nilsson, P.2
Ala-Hurula, V.3
Keränen, M.-L.4
Tarvainen, I.5
Haltia, T.6
-
24
-
-
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, Ogasawara M, Kameya T, Watanabe 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;4:491-2.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 491-492
-
-
Ikeda, M.1
Abe, K.2
Aoki, M.3
Ogasawara, M.4
Kameya, T.5
Watanabe, M.6
-
25
-
-
0029048169
-
Identifaction 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, Esteban J, McKenna-Yasek D, O'Regan JP, et al. Identifaction of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis. Neuromusc Disord 1995;5:353-7.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 353-357
-
-
Sapp, P.C.1
Rosen, D.R.2
Hosler, B.A.3
Esteban, J.4
McKenna-Yasek, D.5
O'Regan, J.P.6
-
26
-
-
0029036463
-
An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4
-
Yulug IG, Katsanis N, de Belleroche J, Collinge J, Fisher EMC. An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4. Hum Mol Genet 1995;4:1101-4.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1101-1104
-
-
Yulug, I.G.1
Katsanis, N.2
De Belleroche, J.3
Collinge, J.4
Fisher, E.M.C.5
-
27
-
-
0029003428
-
Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis
-
Deng H-X, Tainer JA, Mitsumoto H, Ohnishi A, He X, Hung W-Y, et al. Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995;4:1113-6.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1113-1116
-
-
Deng, H.-X.1
Tainer, J.A.2
Mitsumoto, H.3
Ohnishi, A.4
He, X.5
Hung, W.-Y.6
-
28
-
-
0029047111
-
Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
-
Enayat ZE, Orrell RW, Claus A, Ludolph A, Bachus R, Brockmüller J, et al. Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Hum Mol Genet 1995;4: 1239-40.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1239-1240
-
-
Enayat, Z.E.1
Orrell, R.W.2
Claus, A.3
Ludolph, A.4
Bachus, R.5
Brockmüller, J.6
-
29
-
-
1842401057
-
A previously undescribed mutation in the SOD1 gene in a French family with atypical ALS
-
Dublin, [abstract]
-
Moulard B, Camu W, Brice A, Salachas F, Meininger V, Malafosse A. A previously undescribed mutation in the SOD1 gene in a French family with atypical ALS. 6th International Symposium on ALS/MND, Pathogenesis and treatment of ALS/MND II, Dublin, 1995 [abstract].
-
(1995)
6th International Symposium on ALS/MND, Pathogenesis and Treatment of ALS/MND II
-
-
Moulard, B.1
Camu, W.2
Brice, A.3
Salachas, F.4
Meininger, V.5
Malafosse, A.6
-
30
-
-
0346693234
-
Functional and structural correlates of 12 superoxide dismutase-1 mutations in UK families with amyotrophic lateral sclerosis
-
Dublin, [abstract]
-
de Belleroche J, Orrell R, Marklund S, Hallewell R, Bowe F. Functional and structural correlates of 12 superoxide dismutase-1 mutations in UK families with amyotrophic lateral sclerosis. 6th International Symposium on ALS/ MND, Fathogenesis and treatment of ALS/MND II, Dublin, 1995 [abstract].
-
(1995)
6th International Symposium on ALS/ MND, Fathogenesis and Treatment of ALS/MND II
-
-
De Belleroche, J.1
Orrell, R.2
Marklund, S.3
Hallewell, R.4
Bowe, F.5
-
31
-
-
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 1996;136:108-16.
-
(1996)
J Neurol Sci
, vol.136
, pp. 108-116
-
-
Abe, K.1
Aoki, M.2
Ikeda, M.3
Watanabe, M.4
Hirai, S.5
Itoyama, Y.6
-
32
-
-
16944364061
-
A novel missense point mutation S134N of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease
-
in press
-
Watanabe M, Aoki M, Abe K, Shoji M, Iizuka T, Ikeda Y, et al. A novel missense point mutation S134N of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease. Hum Mutat 1996 (in press).
-
(1996)
Hum Mutat
-
-
Watanabe, M.1
Aoki, M.2
Abe, K.3
Shoji, M.4
Iizuka, T.5
Ikeda, Y.6
-
33
-
-
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: 649-50.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 649-650
-
-
Jones, C.T.1
Swingler, R.J.2
Brock, D.J.H.3
-
34
-
-
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 Cell Probes 1994;8:329-30.
-
(1994)
Mol Cell Probes
, vol.8
, pp. 329-330
-
-
Jones, C.T.1
Shaw, P.J.2
Chari, G.3
Brock, D.J.H.4
-
35
-
-
0027360313
-
Cu/Zn superoxide dismutase SOD1 mutations and sporadic amyotrophic lateral sclerosis
-
Jones CT, Brock DJH, Chancellor AM, Warlow CP, Swingler RJ. Cu/Zn superoxide dismutase SOD1 mutations and sporadic amyotrophic lateral sclerosis. Lancet 1993;342:1050-1.
-
(1993)
Lancet
, vol.342
, pp. 1050-1051
-
-
Jones, C.T.1
Brock, D.J.H.2
Chancellor, A.M.3
Warlow, C.P.4
Swingler, R.J.5
-
36
-
-
0347033767
-
Deletion and point mutations in superoxide dismutase-1 gene in amyotrophic lateral sclerosis
-
Tokyo, [abstract]
-
Kawamata J, Shimohama S, Hasegawa H, Imura T, Kimura J, Ueda K. Deletion and point mutations in superoxide dismutase-1 gene in amyotrophic lateral sclerosis. XIth TMIN International Symposium: amyotrophic lateral sclerosis, progress and perspectives in basic research and clinical application, Tokyo, 1995 [abstract].
-
(1995)
XIth TMIN International Symposium: Amyotrophic Lateral Sclerosis, Progress and Perspectives in Basic Research and Clinical Application
-
-
Kawamata, J.1
Shimohama, S.2
Hasegawa, H.3
Imura, T.4
Kimura, J.5
Ueda, K.6
-
37
-
-
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, Hasegawa T, Sakuma R, Onodera Y, 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
Hasegawa, T.4
Sakuma, R.5
Onodera, Y.6
-
38
-
-
0028067985
-
A two basepair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis
-
Pramatorova A, Goto J, Nanba E, Nakashima K, Takahashi K, Takagi A, et al. A two basepair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis. Hum Mol Genet 1994;3:2061-2.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2061-2062
-
-
Pramatorova, A.1
Goto, J.2
Nanba, E.3
Nakashima, K.4
Takahashi, K.5
Takagi, A.6
-
39
-
-
19244379203
-
Evolutionary aspects of superoxide dismutase: The copper/zinc enzyme
-
Bannister WH, Bannister JV, Barra D, Bond J, Bossa F. Evolutionary aspects of superoxide dismutase: the copper/zinc enzyme. Free Rad Res Commun 1991;12-13: 349-61.
-
(1991)
Free Rad Res Commun
, vol.12-13
, pp. 349-361
-
-
Bannister, W.H.1
Bannister, J.V.2
Barra, D.3
Bond, J.4
Bossa, F.5
-
40
-
-
0028343223
-
A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis
-
Rosen DR, Bowling AC, Patterson D, Usdin T, Sapp P, Mezey E, et al. A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis. Hum Mol Genet 1994;3:981-7.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 981-987
-
-
Rosen, D.R.1
Bowling, A.C.2
Patterson, D.3
Usdin, T.4
Sapp, P.5
Mezey, E.6
-
41
-
-
0028940996
-
Superoxide dismutase concentration and activity in familial amyotrophic lateral sclerosis
-
Bowling AC, Barkowski EE, McKenna-Yasek D, Sapp P, Horvitz HR, Beal MF, Brown RH Jr. Superoxide dismutase concentration and activity in familial amyotrophic lateral sclerosis. J Neurochem 1995;64:2366-69.
-
(1995)
J Neurochem
, vol.64
, pp. 2366-2369
-
-
Bowling, A.C.1
Barkowski, E.E.2
McKenna-Yasek, D.3
Sapp, P.4
Horvitz, H.R.5
Beal, M.F.6
Brown Jr., R.H.7
-
42
-
-
0028199849
-
SOD1 missense mutation in an Italian family with ALS
-
Rainero I, Pinessi L, Tsuda T, Vignocchi MG, Vaula G, Calvi L, et al. SOD1 missense mutation in an Italian family with ALS. Neurology 1994;44:347-9.
-
(1994)
Neurology
, vol.44
, pp. 347-349
-
-
Rainero, I.1
Pinessi, L.2
Tsuda, T.3
Vignocchi, M.G.4
Vaula, G.5
Calvi, L.6
-
43
-
-
0028771134
-
106 → Val CTC → GTC mutation of superoxide dismutase-1 gene in patient with familial amyotrophic lateral sclerosis in Japan
-
106 → Val CTC → GTC mutation of superoxide dismutase-1 gene in patient with familial amyotrophic lateral sclerosis in Japan. Lancet 1994;343:1501.
-
(1994)
Lancet
, vol.343
, pp. 1501
-
-
Kawamata, J.1
Hasegawa, H.2
Shimohama, S.3
Kimura, J.4
Tanaka, S.5
Ueda, K.6
-
44
-
-
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 1994;344:1773.
-
(1994)
Lancet
, vol.344
, pp. 1773
-
-
Suthers, G.1
Laing, N.2
Wilton, S.3
Dorosz, S.4
Waddy, H.5
-
45
-
-
0028916910
-
Superoxide dismutase in an unselected cohort of Scottish amyotrophic lateral sclerosis patients
-
Jones CT, Swingler RJ, Simson SA, Brock DJH. Superoxide dismutase in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J Med Genet 1995; 32:290-92.
-
(1995)
J Med Genet
, vol.32
, pp. 290-292
-
-
Jones, C.T.1
Swingler, R.J.2
Simson, S.A.3
Brock, D.J.H.4
-
46
-
-
0027952571
-
Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis
-
Robberecht W, Sapp P, Viaene MK, Rosen D, McKenna-Yasek D, Haines J, et al. Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis. J Neurochem 1994;62:384-7.
-
(1994)
J Neurochem
, vol.62
, pp. 384-387
-
-
Robberecht, W.1
Sapp, P.2
Viaene, M.K.3
Rosen, D.4
McKenna-Yasek, D.5
Haines, J.6
-
47
-
-
0028168971
-
Familial amyotrophic lateral sclerosis ALS in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: A possible new subtype of familial ALS
-
Aoki M, Ogasawara M, Matsubara Y, Narisawa K, Nakamura S, Itoyama Y, Abe K. Familial amyotrophic lateral sclerosis ALS in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS. J Neurol Sci 1994;126: 77-83.
-
(1994)
J Neurol Sci
, vol.126
, pp. 77-83
-
-
Aoki, M.1
Ogasawara, M.2
Matsubara, Y.3
Narisawa, K.4
Nakamura, S.5
Itoyama, Y.6
Abe, K.7
-
48
-
-
0028941313
-
A novel SOD mutant and ALS
-
Orrell R, de Belerroche J, Marklund S, Bowe F, Hallewell R. A novel SOD mutant and ALS. Nature 1995;374:504-5.
-
(1995)
Nature
, vol.374
, pp. 504-505
-
-
Orrell, R.1
De Belerroche, J.2
Marklund, S.3
Bowe, F.4
Hallewell, R.5
-
49
-
-
0028987929
-
100 → gly in a family with inherited motor neuron disease: Detection of mutant superoxide dismutase activity and the presence of heterodimers
-
100 → gly in a family with inherited motor neuron disease: detection of mutant superoxide dismutase activity and the presence of heterodimers. Neurosci Lett 1995;189:143-46.
-
(1995)
Neurosci Lett
, vol.189
, pp. 143-146
-
-
Calder, V.L.1
Domingan, N.M.2
George, P.M.3
Donaldson, I.M.4
Winterbourn, C.C.5
-
50
-
-
0029020394
-
Abnormality of Cu/Zn superoxide dismutase SOD1 activity in Japanese familial amyotrophic lateral sclerosis with two base pair deletion in the SOD1 gene
-
Nakashima K, Watanabe Y, Kuno N, Nanba E, Takahashi K. Abnormality of Cu/Zn superoxide dismutase SOD1 activity in Japanese familial amyotrophic lateral sclerosis with two base pair deletion in the SOD1 gene. Neurology 1995;45:1019-20.
-
(1995)
Neurology
, vol.45
, pp. 1019-1020
-
-
Nakashima, K.1
Watanabe, Y.2
Kuno, N.3
Nanba, E.4
Takahashi, K.5
-
51
-
-
34447495719
-
Familial amyotrophic lateral sclerosis in the Turkish community of Cyprus
-
Dublin, [abstract]
-
Aksoy H, Siddique T, Dean G. Familial amyotrophic lateral sclerosis in the Turkish community of Cyprus. 6th International Symposium on ALS/MND, Pathogenesis and treatment of ALS/MND II, Dublin, 1995 [abstract].
-
(1995)
6th International Symposium on ALS/MND, Pathogenesis and Treatment of ALS/MND II
-
-
Aksoy, H.1
Siddique, T.2
Dean, G.3
-
52
-
-
0029080304
-
Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: Intrafamilial heterogenity of disease duration associated with neurofibrillary tangles
-
Orrell RW, King AW, Hilton DA, Campbell MJ, Lane RJM, de Belleroche JS. Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: intrafamilial heterogenity of disease duration associated with neurofibrillary tangles. J Neurol Neurosurg Psychiatry 1995;59: 266-70.
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.59
, pp. 266-270
-
-
Orrell, R.W.1
King, A.W.2
Hilton, D.A.3
Campbell, M.J.4
Lane, R.J.M.5
De Belleroche, J.S.6
-
54
-
-
0030034545
-
SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis
-
Rouleau GA, Clark AW, Rooke K, Pramatorova A, Krizus A, Suchowersky O, Julien J-P, Figlewicz D. SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis. Ann Neurol 1996;39: 128-131.
-
(1996)
Ann Neurol
, vol.39
, pp. 128-131
-
-
Rouleau, G.A.1
Clark, A.W.2
Rooke, K.3
Pramatorova, A.4
Krizus, A.5
Suchowersky, O.6
Julien, J.-P.7
Figlewicz, D.8
-
55
-
-
0029854883
-
D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
-
in press
-
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 amyotrophic lateral sclerosis. Neurology 1996 (in press).
-
(1996)
Neurology
-
-
Robberecht, W.1
Aguirre, T.2
Van Den Bosch, L.3
Tilkin, P.4
Cassiman, J.J.5
Matthijs, G.6
-
56
-
-
9544236295
-
A clinical and genealogical study of 36 patients
-
Andersen PM, Forsgren L, Binzer M, Nilsson P, Ala-Hurula V, Keränen M-L, et al. A clinical and genealogical study of 36 patients. Brain 1996;119:1153-72.
-
(1996)
Brain
, vol.119
, pp. 1153-1172
-
-
Andersen, P.M.1
Forsgren, L.2
Binzer, M.3
Nilsson, P.4
Ala-Hurula, V.5
Keränen, M.-L.6
-
57
-
-
0028208658
-
The Cu/Zn superoxide dismutase gene in ALS and parkinsonism-dementia of Guam
-
Figlewicz DA, Garruto RM, Krizus A, Yanagihara R, Rouleau GA. The Cu/Zn superoxide dismutase gene in ALS and parkinsonism-dementia of Guam. NeuroReport 1994;5:557-60.
-
(1994)
NeuroReport
, vol.5
, pp. 557-560
-
-
Figlewicz, D.A.1
Garruto, R.M.2
Krizus, A.3
Yanagihara, R.4
Rouleau, G.A.5
-
58
-
-
0028827062
-
Absence of mutations in superoxide dismutase and catalase genes in patients with Parkinson's disease
-
Parboosingh JS, Roussaeau M, Rogan F, Amit Z, Chertkow H, Johnson WG, et al. Absence of mutations in superoxide dismutase and catalase genes in patients with Parkinson's disease. Arch Neurol 1995;52,1160-3.
-
(1995)
Arch Neurol
, vol.52
, pp. 1160-1163
-
-
Parboosingh, J.S.1
Roussaeau, M.2
Rogan, F.3
Amit, Z.4
Chertkow, H.5
Johnson, W.G.6
-
59
-
-
0026591855
-
A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase HPRT deficiency
-
Sculley DG, Dawson PA, Emmerson BT, Gordon RB. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase HPRT deficiency. Hum Genet 1992;90:195-207.
-
(1992)
Hum Genet
, vol.90
, pp. 195-207
-
-
Sculley, D.G.1
Dawson, P.A.2
Emmerson, B.T.3
Gordon, R.B.4
-
60
-
-
0026622926
-
Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease
-
Takahashi T, Suchi M, Desnick RJ, Takada G, Schuchman EH. Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. J Biol Chem 1992;267:12552-8.
-
(1992)
J Biol Chem
, vol.267
, pp. 12552-12558
-
-
Takahashi, T.1
Suchi, M.2
Desnick, R.J.3
Takada, G.4
Schuchman, E.H.5
-
61
-
-
0027327087
-
Onset, natural history and outcome in idiopathic motor neuron disease
-
Norris F, Shepherd R, Denys E, Kwei V, Mukai E, Elias L. Onset, natural history and outcome in idiopathic motor neuron disease. J Neurol Sci 1993;118:48-55.
-
(1993)
J Neurol Sci
, vol.118
, pp. 48-55
-
-
Norris, F.1
Shepherd, R.2
Denys, E.3
Kwei, V.4
Mukai, E.5
Elias, L.6
-
63
-
-
77049209200
-
Epidemiological investigations of amyotrophic lateral sclerosis. II Familial aggregations indicative of dominant inheritance
-
Kurland LT, Mulder DW. Epidemiological investigations of amyotrophic lateral sclerosis. II Familial aggregations indicative of dominant inheritance. Neurology 1955;5: 182-96; 249-68.
-
(1955)
Neurology
, vol.5
, pp. 182-196
-
-
Kurland, L.T.1
Mulder, D.W.2
-
65
-
-
0027055105
-
Adult onset motor neuron disease: Worldwide mortality, incidence, and distribution since 1950
-
Chancellor AM, Warlow CP. Adult onset motor neuron disease: worldwide mortality, incidence, and distribution since 1950. J Neurol Neurosurg Psychiatry 1992;55: 1106-15.
-
(1992)
J Neurol Neurosurg Psychiatry
, vol.55
, pp. 1106-1115
-
-
Chancellor, A.M.1
Warlow, C.P.2
-
66
-
-
0028106044
-
Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene
-
Takahashi H, Makifuchi T, Nakano R, Sato S, Inuzuka T, Sakimura K, et al. Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene. Acta Neuropathol (Berl) 1994;88:185-8.
-
(1994)
Acta Neuropathol (Berl)
, vol.88
, pp. 185-188
-
-
Takahashi, H.1
Makifuchi, T.2
Nakano, R.3
Sato, S.4
Inuzuka, T.5
Sakimura, K.6
-
67
-
-
34447494134
-
Molecular pathology of familial amyotrophic lateral sclerosis ALS with a mutation of SOD1
-
Shaw CE, Anderson VER, Al-Sarraj S, Lantos PL, Leigh PN. Molecular pathology of familial amyotrophic lateral sclerosis ALS with a mutation of SOD1 [abstract]. Neuropathol Appl Neurobiol 1996;22:154.
-
(1996)
Neuropathol Appl Neurobiol
, vol.22
, pp. 154
-
-
Shaw, C.E.1
Anderson, V.E.R.2
Al-Sarraj, S.3
Lantos, P.L.4
Leigh, P.N.5
-
68
-
-
0029792449
-
Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene - Pathological and immunocytochemical changes
-
Ince PG, Shaw PJ, Slade JY, 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 1996; 92:395-403.
-
(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
-
69
-
-
0029792449
-
Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene - Pathological and immunocytochemical changes
-
Ince PG, Shaw PJ, Slade JY, Jones C, Hudgson PH. Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene - pathological and immunocytochemical changes. Acta Neuropathol 1996;92:395-403.
-
(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.H.5
-
71
-
-
0028001606
-
Variants of heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
-
Figlewicz DA, Krizus A, Martinoli MG, Meininger V, Dib M, Rouleau GA, Julien J-P. Variants of heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet 1994;3: 1757-61.
-
(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
-
72
-
-
0028116467
-
A mutant neurofilament subunit causes massive, selective motor neuron death: Implications for the pathogenesis of human motor neuron disease
-
Lee MK, Marszalek JR, Cleveland DW. A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease. Neuron 1994;13:975-88.
-
(1994)
Neuron
, vol.13
, pp. 975-988
-
-
Lee, M.K.1
Marszalek, J.R.2
Cleveland, D.W.3
-
73
-
-
0027965073
-
Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity
-
Borchelt DR, Lee MK, Slunt HS, Guarnieri M, Xu Z-S, Wong P-C, et al. Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. Proc Natl Acad Sci USA 1994;91: 8292-6.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 8292-8296
-
-
Borchelt, D.R.1
Lee, M.K.2
Slunt, H.S.3
Guarnieri, M.4
Xu, Z.-S.5
Wong, P.-C.6
-
74
-
-
0027997236
-
Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis
-
Tsuda T, Munthasser S, Fraser PE, Percy ME, Rainero I, Vaula G, et al. Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis. Neuron 1994;13:727-36.
-
(1994)
Neuron
, vol.13
, pp. 727-736
-
-
Tsuda, T.1
Munthasser, S.2
Fraser, P.E.3
Percy, M.E.4
Rainero, I.5
Vaula, G.6
-
75
-
-
0027359334
-
Superoxide dismutase activity, oxidative damage and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis
-
Bowling AC, Shulz JB, Brown RH Jr, Beal MF. Superoxide dismutase activity, oxidative damage and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis. J Neurochem 1993;61:2322-5.
-
(1993)
J Neurochem
, vol.61
, pp. 2322-2325
-
-
Bowling, A.C.1
Shulz, J.B.2
Brown Jr., R.H.3
Beal, M.F.4
-
76
-
-
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, Lee MK, Copeland NG, Jenkins NA, et al. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 1995;14:1105-16.
-
(1995)
Neuron
, vol.14
, pp. 1105-1116
-
-
Wong, P.C.1
Pardo, C.A.2
Borchelt, D.R.3
Lee, M.K.4
Copeland, N.G.5
Jenkins, N.A.6
-
77
-
-
0028284779
-
Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
-
Gurney ME, Pu H, Chiu AY, Dal Canto MC, Polchow CY, Alexander DD, et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 1994;264:1772-5.
-
(1994)
Science
, vol.264
, pp. 1772-1775
-
-
Gurney, M.E.1
Pu, H.2
Chiu, A.Y.3
Dal Canto, M.C.4
Polchow, C.Y.5
Alexander, D.D.6
-
78
-
-
0028888945
-
Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis
-
Ripps ME, Huntley GW, Hof PR, Morrison JH, Gordon JW. Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 1995; 92:689-93.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 689-693
-
-
Ripps, M.E.1
Huntley, G.W.2
Hof, P.R.3
Morrison, J.H.4
Gordon, J.W.5
-
79
-
-
0029417023
-
Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro
-
Busciglio J, Yankner BA. Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro. Nature 1995;378:776-9.
-
(1995)
Nature
, vol.378
, pp. 776-779
-
-
Busciglio, J.1
Yankner, B.A.2
-
80
-
-
0023809302
-
Down's syndrome: Abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase
-
Avraham KB, Schickler M, Sapoznikov D, Yarom R, Groner Y. Down's syndrome: abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase. Cell 1988;54: 823-9.
-
(1988)
Cell
, vol.54
, pp. 823-829
-
-
Avraham, K.B.1
Schickler, M.2
Sapoznikov, D.3
Yarom, R.4
Groner, Y.5
-
81
-
-
0028960506
-
Amyotrophic lateral sclerosis: Recent insights from genetics and transgenic mice
-
Brown RH Jr. Amyotrophic lateral sclerosis: recent insights from genetics and transgenic mice. Cell 1995;80:687-92.
-
(1995)
Cell
, vol.80
, pp. 687-692
-
-
Brown Jr., R.H.1
-
82
-
-
0030050727
-
Benefit of vitamin E, riluzole, and gabapentin in a transgenic model of familial amyotrophic lateral sclerosis
-
Gurney ME, Cutting FB, Zhai P, et al. Benefit of vitamin E, riluzole, and gabapentin in a transgenic model of familial amyotrophic lateral sclerosis. Ann Neurol 1996; 39:147-57.
-
(1996)
Ann Neurol
, vol.39
, pp. 147-157
-
-
Gurney, M.E.1
Cutting, F.B.2
Zhai, P.3
|