-
2
-
-
0033989243
-
Amyotrophic lateral sclerosis: Copper/zinc superoxide dismutase (SOD-1) gene mutations
-
Orrell RW. Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD-1) gene mutations. Neuromuscul Discord 2000; 10: 63-68.
-
(2000)
Neuromuscul. Discord.
, vol.10
, pp. 63-68
-
-
Orrell, R.W.1
-
4
-
-
0001477869
-
Genetics of amyotrophic lateral sclerosis: An overview
-
Brown RH Jr, Meininger V, Swash M, editors. London: Martin Dunitz
-
Andersen PM, Morita M, Brown RH Jr. Genetics of amyotrophic lateral sclerosis: an overview. In: Brown RH Jr, Meininger V, Swash M, editors. Amyotrophic lateral sclerosis. London: Martin Dunitz, 1999; 223-250.
-
(1999)
Amyotrophic Lateral Sclerosis
, pp. 223-250
-
-
Andersen, P.M.1
Morita, M.2
Brown R.H., Jr.3
-
5
-
-
0029010496
-
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala 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
-
6
-
-
9544236295
-
Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients
-
Andersen PM, Forsgren L, Binzer M et al. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-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
-
7
-
-
0035036119
-
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: Identification of three novel missense mutations
-
Gellera C, Castellotti 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 Discord 2001; 11: 404-410.
-
(2001)
Neuromusc. Discord.
, vol.11
, pp. 404-410
-
-
Gellera, C.1
Castellotti, B.2
Riggio, M.C.3
-
8
-
-
0033753586
-
Recessively inherited amyotrophic lateral sclerosis: A German family with the D90A CuZn-SOD mutation
-
Winter SM, Claus A, Oberwittler C et al. Recessively inherited amyotrophic lateral sclerosis: a German family with the D90A CuZn-SOD mutation. J Neurol 2000; 247: 783-786.
-
(2000)
J. Neurol.
, vol.247
, pp. 783-786
-
-
Winter, S.M.1
Claus, A.2
Oberwittler, C.3
-
9
-
-
0031854283
-
Identification of six novel SOD-1 gene mutations in familial amyotrophic lateral sclerosis
-
Boukaftane Y, Khoris J, Moulard B et al Identification of six novel SOD-1 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
-
10
-
-
0005366063
-
Atypical familial amyotrophic lateral sclerosis
-
(abstract)
-
Kaplan JP, Brooks BR, Mitsumoto H. Atypical familial amyotrophic lateral sclerosis (abstract) Am J Hum Genet 1996; 59 (suppl): 1534.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, Issue.SUPPL.
, pp. 1534
-
-
Kaplan, J.P.1
Brooks, B.R.2
Mitsumoto, H.3
-
11
-
-
0035065017
-
Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia
-
Skvortsova VI, Limborska SA, Slominski PA et al. Sporadic ALS associated with the D90A Cu,Zn superoxide dismutase mutation in Russia. Eur J Neurol 2001; 8: 167-172.
-
(2001)
Eur. J. Neurol.
, vol.8
, pp. 167-172
-
-
Skvortsova, V.I.1
Limborska, S.A.2
Slominski, P.A.3
-
12
-
-
0032692215
-
Motor system abnormalities in heterozygous relatives of a D90A homozygous CuZn-SOD ALS patient of Finnish extraction
-
Mezei M, Andersen PM, Stewart H et al. Motor system abnormalities in heterozygous relatives of a D90A homozygous CuZn-SOD ALS patient of Finnish extraction. J Neurol Sci 1999; 169: 49-55.
-
(1999)
J. Neurol. Sci.
, vol.169
, pp. 49-55
-
-
Mezei, M.1
Andersen, P.M.2
Stewart, H.3
-
13
-
-
7844227669
-
Recessive amyotrophic lateral sclerosis families with the D90A SOD-1 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 SOD-1 mutation share a common founder: evidence for a linked protective factor. Hum Mol Genet 1998; 7: 2045-2050.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 2045-2050
-
-
Al-Chalabi, A.1
Andersen, P.M.2
Chioza, B.3
-
14
-
-
0028142392
-
-
Subcommittee on motor neuron diseases/amyotrophic lateral sclerosis of the World Federation of Neurology research group on neuromuscular diseases and the El Escorial clinical limits of amyotrophic lateral sclerosis workshop contributors B.R. Brooks, El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis
-
Subcommittee on motor neuron diseases/amyotrophic lateral sclerosis of the World Federation of Neurology research group on neuromuscular diseases and the El Escorial clinical limits of amyotrophic lateral sclerosis workshop contributors B.R. Brooks, El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. J Neurol Sci 1994; 124: 96-10.
-
(1994)
J. Neurol. Sci.
, vol.124
, pp. 96-110
-
-
-
16
-
-
1842311445
-
Nucleotide sequence and expression of human chromosome 21-encoded superoxide dismutase mRNA
-
Sherman L, Dafni N, Lieman-Hurwitz J, Groner Y. Nucleotide sequence and expression of human chromosome 21-encoded superoxide dismutase mRNA. Proc Natl Acad Sci 1983; 80: 5465-5469.
-
(1983)
Proc. Natl. Acad. Sci.
, vol.80
, pp. 5465-5469
-
-
Sherman, L.1
Dafni, N.2
Lieman-Hurwitz, J.3
Groner, Y.4
-
17
-
-
0030749160
-
Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia
-
Andersen PM, Nilsson P, Keranen M-L et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 1997: 120; 1723-1737.
-
(1997)
Brain
, vol.120
, pp. 1723-1737
-
-
Andersen, P.M.1
Nilsson, P.2
Keranen, M.-L.3
-
18
-
-
0035838427
-
Clinical implications of the genetics of ALS and other motor neuron diseases
-
Orrell RW, Figlewicz DA. Clinical implications of the genetics of ALS and other motor neuron diseases. Neurology 2001; 57: 9-17.
-
(2001)
Neurology
, vol.57
, pp. 9-17
-
-
Orrell, R.W.1
Figlewicz, D.A.2
-
19
-
-
0035033662
-
A case of amyotrophic lateral sclerosis with a very slow progression over 44 years
-
Grohme K, Maravic MV, Gasser T, Borasio GD. A case of amyotrophic lateral sclerosis with a very slow progression over 44 years. Neuromuscul Disord 2001; 11: 414-416.
-
(2001)
Neuromuscul. Disord.
, vol.11
, pp. 414-416
-
-
Grohme, K.1
Maravic, M.V.2
Gasser, T.3
Borasio, G.D.4
-
20
-
-
0033595217
-
A SOD-1 gene mutation in a patient with slowly progressing familial ALS
-
Penco, S, Schenone A, Bordo D et al. A SOD-1 gene mutation in a patient with slowly progressing familial ALS. Neurology 1999; 53: 404-406.
-
(1999)
Neurology
, vol.53
, pp. 404-406
-
-
Penco, S.1
Schenone, A.2
Bordo, D.3
-
21
-
-
0029854883
-
D90A heterozygosity in the SOD-1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
-
Robberecht W, Aguirre T, Van Den Bosch L et al. D90A heterozygosity in the SOD-1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology 1996; 47: 1336-1339.
-
(1996)
Neurology
, vol.47
, pp. 1336-1339
-
-
Robberecht, W.1
Aguirre, T.2
Van Den Bosch, L.3
-
22
-
-
0030780350
-
SOD-1 and sporadic ALS: Analysis of 155 cases and identification of a novel insertion mutation
-
Jackson M, Al-Chalabi A, Enayat ZE et al. SOD-1 and sporadic ALS: analysis of 155 cases and identification of a novel insertion mutation. Ann Neurol 1997; 42: 803-806.
-
(1997)
Ann. Neurol.
, vol.42
, pp. 803-806
-
-
Jackson, M.1
Al-Chalabi, A.2
Enayat, Z.E.3
-
23
-
-
0013277696
-
Familial amyotrophic lateral sclerosis associated with either homozygous or heterozygous Asp90Ala Cu/Zn superoxide dismutase mutation
-
(abstract) Proceedings of the 8th International Symposium on ALS/MND, Abstract Booklet
-
Khoris J, Boukaftane Y, Moulard B et al Familial amyotrophic lateral sclerosis associated with either homozygous or heterozygous Asp90Ala Cu/Zn superoxide dismutase mutation (abstract). Proceedings of the 8th International Symposium on ALS/MND, Abstract Booklet, 1997: 46.
-
(1997)
, pp. 46
-
-
Khoris, J.1
Boukaftane, Y.2
Moulard, B.3
et al4
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