-
2
-
-
0032539787
-
SCA 6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia
-
Yabe I, Sasaki H, Matsuura T, et al : SCA 6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. J Neurol Sci 156 : 89-95, 1998
-
(1998)
J Neurol Sci
, vol.156
, pp. 89-95
-
-
Yabe, I.1
Sasaki, H.2
Matsuura, T.3
-
3
-
-
16944366032
-
Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1 - p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1
-
Ishikawa K, Tanaka H, Saito M, et al : Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1 - p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. Am J Hum Genet 61 : 336-346, 1997
-
(1997)
Am J Hum Genet
, vol.61
, pp. 336-346
-
-
Ishikawa, K.1
Tanaka, H.2
Saito, M.3
-
4
-
-
0030679611
-
Spinocerebellar ataxia type 6 . Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion
-
Matsumura R, Futamura N, Fujimoto Y, et al : Spinocerebellar ataxia type 6 . Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion Neurology 49 : 1238-1243, 1997
-
(1997)
Neurology
, vol.49
, pp. 1238-1243
-
-
Matsumura, R.1
Futamura, N.2
Fujimoto, Y.3
-
5
-
-
8544255538
-
Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA 6)
-
Matsuyama Z, Kawakami H, Maruyama H, et al : Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA 6). Hum Mol Genet 6 : 1283-1287, 1997
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1283-1287
-
-
Matsuyama, Z.1
Kawakami, H.2
Maruyama, H.3
-
6
-
-
0031442152
-
1A voltage-dependent calcium channel gene and clinical variations in Japanese population
-
1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol 42 : 879-884, 1997
-
(1997)
Ann Neurol
, vol.42
, pp. 879-884
-
-
Ikeuchi, T.1
Takano, H.2
Koide, R.3
-
7
-
-
0030699138
-
Spinocerebellar ataxia type 6 . Frequency of the mutation and genotype-phenotype correlations
-
Geschwind DH, Perlman S, Figueroa KP, et al : Spinocerebellar ataxia type 6 . Frequency of the mutation and genotype-phenotype correlations. Neurology 49 : 1247-1251, 1997
-
(1997)
Neurology
, vol.49
, pp. 1247-1251
-
-
Geschwind, D.H.1
Perlman, S.2
Figueroa, K.P.3
-
8
-
-
0343416801
-
Clinical and molecullar features of spinocerebellar ataxia type 6
-
Stevanin G, Dürr A, David G, et al : Clinical and molecullar features of spinocerebellar ataxia type 6 . Neurology 49 : 1243-1246, 1997
-
(1997)
Neurology
, vol.49
, pp. 1243-1246
-
-
Stevanin, G.1
Dürr, A.2
David, G.3
-
10
-
-
0031454530
-
Spinocerebellar ataxia type 6 : Gaze-evoked and vertical nystagmus. Purkinje cell degeneration. and variable age of onset
-
Gomez CM, Thompson RM, Gammack JT, et al : Spinocerebellar ataxia type 6 : gaze-evoked and vertical nystagmus. Purkinje cell degeneration. and variable age of onset. Ann Neurol 42 : 933-950, 1997
-
(1997)
Ann Neurol
, vol.42
, pp. 933-950
-
-
Gomez, C.M.1
Thompson, R.M.2
Gammack, J.T.3
-
11
-
-
2642589007
-
Autosomal dominant cerebellar ataxia : Phenotypic differences in genetically defined subtypes?
-
Schöls L, Amoiridis G, Buttner T, et al : Autosomal dominant cerebellar ataxia : phenotypic differences in genetically defined subtypes? Ann Neurol 42 : 924-932, 1997
-
(1997)
Ann Neurol
, vol.42
, pp. 924-932
-
-
Schöls, L.1
Amoiridis, G.2
Buttner, T.3
-
12
-
-
0020447807
-
Electrooculographic findings in Machado-Joseph disease
-
Dawson DM, Feudo P, Zubick HH, et al : Electrooculographic findings in Machado-Joseph disease. Neurology 32 : 1272-1276, 1982
-
(1982)
Neurology
, vol.32
, pp. 1272-1276
-
-
Dawson, D.M.1
Feudo, P.2
Zubick, H.H.3
-
13
-
-
0023082827
-
The search for a physiologic marker of Machado-Joseph disease
-
Hotson JR, Langston EB, Louis AA, et al : The search for a physiologic marker of Machado-Joseph disease. Neurology 37 : 112-116, 1987
-
(1987)
Neurology
, vol.37
, pp. 112-116
-
-
Hotson, J.R.1
Langston, E.B.2
Louis, A.A.3
-
14
-
-
9044227266
-
Clinical features and natural history of spinocerebellar ataxia type 1
-
Sasaki H, Fukazawa T, Yanagihara T, et al: Clinical features and natural history of spinocerebellar ataxia type 1 . Acta Neurol Scand 93 : 64-71, 1996
-
(1996)
Acta Neurol Scand
, vol.93
, pp. 64-71
-
-
Sasaki, H.1
Fukazawa, T.2
Yanagihara, T.3
-
15
-
-
0030449316
-
Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA 2 ) : A clinical and genetic study with a pedigree in the Japanese
-
Sasaki H, Fukazawa T, Wakisaka A, et al : Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA 2 ) : a clinical and genetic study with a pedigree in the Japanese. J Neurol Sci 144 : 176-181, 1996
-
(1996)
J Neurol Sci
, vol.144
, pp. 176-181
-
-
Sasaki, H.1
Fukazawa, T.2
Wakisaka, A.3
-
16
-
-
0029611008
-
Autosomal dominant cerebellar ataxia type I in Marinique (French West Indies) . Clinical and neuropathological analysis of 53 patients from three unrelated SCA 2 families
-
Dürr A, Smadja D, Cancel G, et al : Autosomal dominant cerebellar ataxia type I in Marinique (French West Indies) . Clinical and neuropathological analysis of 53 patients from three unrelated SCA 2 families. Brain 118 : 1573-1581, 1995
-
(1995)
Brain
, vol.118
, pp. 1573-1581
-
-
Dürr, A.1
Smadja, D.2
Cancel, G.3
-
17
-
-
15444348424
-
Spinocerebellar ataxia type 2 . Genotype and phenotype in German kindreds
-
Schöls L, Gispert S, Vorgerd M, et al : Spinocerebellar ataxia type 2 . Genotype and phenotype in German kindreds. Arch Neurol 54 : 1073-1080, 1997
-
(1997)
Arch Neurol
, vol.54
, pp. 1073-1080
-
-
Schöls, L.1
Gispert, S.2
Vorgerd, M.3
-
18
-
-
0022623282
-
Joseph's disease : Clinical and pathological studies in a Japanese family
-
Yuasa T, Ohama E, Harayama H, et al : Joseph's disease : clinical and pathological studies in a Japanese family. Ann Neurol 19 : 152-157, 1986
-
(1986)
Ann Neurol
, vol.19
, pp. 152-157
-
-
Yuasa, T.1
Ohama, E.2
Harayama, H.3
-
19
-
-
0029792130
-
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA 4 ) . clinical description and genetic localization to chromosome 16q22.1
-
Flanigan K, Gardner K, Alderson K, et al : Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA 4 ) . clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 59 : 392-399, 1996
-
(1996)
Am J Hum Genet
, vol.59
, pp. 392-399
-
-
Flanigan, K.1
Gardner, K.2
Alderson, K.3
-
20
-
-
0028020605
-
Spinocerebellar ataxia type 5 in a family descended from the grandparents of president Lincoln maps to chromosome 11
-
Ranum LPW, Schut LJ, Lundgren JK, et al : Spinocerebellar ataxia type 5 in a family descended from the grandparents of president Lincoln maps to chromosome 11. Nature Genet 8 : 280-284, 1994
-
(1994)
Nature Genet
, vol.8
, pp. 280-284
-
-
Ranum, L.P.W.1
Schut, L.J.2
Lundgren, J.K.3
-
21
-
-
0031963416
-
Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA 7 ) patients : Effect of CAG repeat length on the clinical manifestation
-
Johansson J, Forsgren L, Sandgren O, et al : Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA 7 ) patients : effect of CAG repeat length on the clinical manifestation. Hum Mol Genet 7 : 171-176, 1998
-
(1998)
Hum Mol Genet
, vol.7
, pp. 171-176
-
-
Johansson, J.1
Forsgren, L.2
Sandgren, O.3
-
22
-
-
0031883338
-
Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA 6 )
-
Sasaki H, Kojima H, Yabe I, et al : Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA 6 ). Acta Neuropathol 95 : 199-204, 1998
-
(1998)
Acta Neuropathol
, vol.95
, pp. 199-204
-
-
Sasaki, H.1
Kojima, H.2
Yabe, I.3
-
23
-
-
0028071571
-
Treatment of abnormal eye movements that impair vision : Strategies based on current concepts of physiology and pharmacology
-
Leigh RJ, Averbuch-Heller L, Tomsak RL, et al : Treatment of abnormal eye movements that impair vision : strategies based on current concepts of physiology and pharmacology. Ann Neurol 36 : 129-141, 1994
-
(1994)
Ann Neurol
, vol.36
, pp. 129-141
-
-
Leigh, R.J.1
Averbuch-Heller, L.2
Tomsak, R.L.3
-
25
-
-
0027732778
-
-
Equilibrium Res 52: 524-529, 1993
-
(1993)
Equilibrium Res
, vol.52
, pp. 524-529
-
-
-
26
-
-
7844244236
-
-
Japanese source
-
-
-
-
27
-
-
0029898038
-
Olivopontocerebellar pathology in multiple system atrophy
-
Wenning GK, Tison F, Elliot L, et al : Olivopontocerebellar pathology in multiple system atrophy. Mov Disord 11 : 157-162, 1996
-
(1996)
Mov Disord
, vol.11
, pp. 157-162
-
-
Wenning, G.K.1
Tison, F.2
Elliot, L.3
-
29
-
-
0031015937
-
Familial episodic ataxia : Clinical heterogeneity in four families linked to chromosome 19p
-
Baloh RW, Vue Q, Furman JM, et al : Familial episodic ataxia : clinical heterogeneity in four families linked to chromosome 19p. Ann Neurol 41 : 8-16, 1997
-
(1997)
Ann Neurol
, vol.41
, pp. 8-16
-
-
Baloh, R.W.1
Vue, Q.2
Furman, J.M.3
-
30
-
-
0022939362
-
Autosomal dominant episodic ataxia : A heterogeneous syndrome
-
Gancher ST, Nutt JG : Autosomal dominant episodic ataxia : a heterogeneous syndrome. Mov Disord 1 : 239-253, 1986
-
(1986)
Mov Disord
, vol.1
, pp. 239-253
-
-
Gancher, S.T.1
Nutt, J.G.2
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