-
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, Büttner 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
Büttner, T.3
-
12
-
-
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
-
13
-
-
0025775195
-
Primary structure and functional expression from complementary DNA of a brain calcium channel
-
Mori Y, Friedrich T, Kim M-S, et al : Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 350 : 398-402, 1991
-
(1991)
Nature
, vol.350
, pp. 398-402
-
-
Mori, Y.1
Friedrich, T.2
Kim, M.-S.3
-
14
-
-
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
-
15
-
-
84903509739
-
Cerebellum and precerebellar nuclei
-
ed by Paxinos G, Academic Press, San Diego
-
Voogd J, Feirabend HKP, Schoen JHR : Cerebellum and precerebellar nuclei. In the Human nervous system, ed by Paxinos G, Academic Press, San Diego, 1990, pp 321-386
-
(1990)
The Human Nervous System
, pp. 321-386
-
-
Voogd, J.1
Feirabend, H.K.P.2
Schoen, J.H.R.3
-
16
-
-
0028920029
-
Mapping the gene for acetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p
-
Von Brederlow B, Hahn AF, Koopman WJ, et al : Mapping the gene for acetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet 4 : 279-284, 1995
-
(1995)
Hum Mol Genet
, vol.4
, pp. 279-284
-
-
Von Brederlow, B.1
Hahn, A.F.2
Koopman, W.J.3
-
18
-
-
0031015937
-
Familial episodic ataxia : Clinical heterogeneity in four families linked to chromosome 19p
-
Baloh RW, Yue 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
Yue, Q.2
Furman, J.M.3
-
19
-
-
0027732778
-
-
Equilibrium Res 52: 524-529, 1993
-
(1993)
Equilibrium Res
, vol.52
, pp. 524-529
-
-
|