-
1
-
-
0029959667
-
Autosomal dominant cerebellar ataxia type 1. Clinical features and MRI in families with SCA1, SCA2 and SCA3
-
Bürk K., Abele M., Fetter M., et al. Autosomal dominant cerebellar ataxia type 1. Clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain. 119:1996;1497-1505.
-
(1996)
Brain
, vol.119
, pp. 1497-1505
-
-
Bürk, K.1
Abele, M.2
Fetter, M.3
-
2
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David G., Abbas N., Stevanin G., et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 17:1997;65-70.
-
(1997)
Nat Genet
, vol.17
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
-
3
-
-
0030465538
-
Brain MRI, lumbar CSF monoamine concentrations, and clinical descriptors of patients with spinocerebellar ataxia mutations
-
Higgins J.J., Harvey-White J.D., Nee L.E., Colli M.J., Grossi T.A., Kopin I.J. Brain MRI, lumbar CSF monoamine concentrations, and clinical descriptors of patients with spinocerebellar ataxia mutations. J Neurol Neurosurg Psychiatry. 61:1996;591-595.
-
(1996)
J Neurol Neurosurg Psychiatry
, vol.61
, pp. 591-595
-
-
Higgins, J.J.1
Harvey-White, J.D.2
Nee, L.E.3
Colli, M.J.4
Grossi, T.A.5
Kopin, I.J.6
-
4
-
-
0031442152
-
Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population
-
Ikeuchi T., Takano H., Koide R., et al. Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol. 42:1997;879-884.
-
(1997)
Ann Neurol
, vol.42
, pp. 879-884
-
-
Ikeuchi, T.1
Takano, H.2
Koide, R.3
-
5
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G., Saudou F., Yvert G., et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 14:1996;285-291.
-
(1996)
Nat Genet
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
-
6
-
-
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. 61:1997;336-346.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 336-346
-
-
Ishikawa, K.1
Tanaka, H.2
Saito, M.3
-
7
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y., Okamoto T., Taniwaki M., et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 8:1994;221-228.
-
(1994)
Nat Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
8
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide R., Ikeuchi T., Onodera O., et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet. 6:1994;9-13.
-
(1994)
Nat Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
-
10
-
-
0030668895
-
The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia
-
Lorenzetti D., Bohlega S., Zoghbi H. The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology. 49:1997;1009-1113.
-
(1997)
Neurology
, vol.49
, pp. 1009-1113
-
-
Lorenzetti, D.1
Bohlega, S.2
Zoghbi, H.3
-
11
-
-
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. 49:1997;1238-1243.
-
(1997)
Neurology
, vol.49
, pp. 1238-1243
-
-
Matsumura, R.1
Futamura, N.2
Fujimoto, Y.3
-
12
-
-
8544255538
-
Molecular features of the CAG repeats of spinocerebellar ataxia 6
-
Matsuyama Z., Kawakami H., Maruyama H., et al. Molecular features of the CAG repeats of spinocerebellar ataxia 6. Hum Mol Genet. 6:1997;1283-1287.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1283-1287
-
-
Matsuyama, Z.1
Kawakami, H.2
Maruyama, H.3
-
13
-
-
0023836562
-
Spinocerebellar degeneration: Qualitative and quantitative MR analysis of atrophy
-
Nabatame H., Fukuyama H., Akiguchi I., Kameyama M., Nishimura K., Nakano Y. Spinocerebellar degeneration: qualitative and quantitative MR analysis of atrophy. J Comput Assist Tomogr. 12:1988;298-303.
-
(1988)
J Comput Assist Tomogr
, vol.12
, pp. 298-303
-
-
Nabatame, H.1
Fukuyama, H.2
Akiguchi, I.3
Kameyama, M.4
Nishimura, K.5
Nakano, Y.6
-
14
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi S., Yanagisawa H., Sato K., et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet. 6:1994;14-18.
-
(1994)
Nat Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
-
15
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr H.T., Chung M.Y., Banfi S., et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 4:1993;221-226.
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
-
16
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst S.M., Nechiporuk A., Nechiporuk T., et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 14:1996;269-276.
-
(1996)
Nat Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
-
17
-
-
0004136246
-
-
J. Sambrook, E.F. Fritsch, & T. Maniatis. New York: Cold Spring Harbor Laboratory Press
-
Sambrook J., Fritsch E.F., Maniatis T. Molecular cloning. A laboratory manual. 2nd ed :1989;Cold Spring Harbor Laboratory Press, New York.
-
(1989)
Molecular Cloning. a Laboratory Manual 2nd Ed
-
-
-
18
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
Sanpei K., Takano H., Igarashi S., et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet. 14:1996;277-284.
-
(1996)
Nat Genet
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
Takano, H.2
Igarashi, S.3
-
19
-
-
0027818325
-
Linkage study of hereditary spinocerebellar ataxia, and probable correlation for the loci to the disease phenotypes [in Japanese]
-
Sasaki H. Linkage study of hereditary spinocerebellar ataxia, and probable correlation for the loci to the disease phenotypes [in Japanese]. Rinsho Shinkeigaku (Clin Neurol). 33:1993;1285-1287.
-
(1993)
Rinsho Shinkeigaku (Clin Neurol)
, vol.33
, pp. 1285-1287
-
-
Sasaki, H.1
-
20
-
-
2642589007
-
Autosomal dominant cerebellar ataxia : Phenotypic differences in genetically defined subtypes?
-
Schöls L., Amoiridis G., Buttner T., Przuntek H., Epplen J.T., Riess O. Autosomal dominant cerebellar ataxia : phenotypic differences in genetically defined subtypes? Ann Neurol. 42:1997;924-932.
-
(1997)
Ann Neurol
, vol.42
, pp. 924-932
-
-
Schöls, L.1
Amoiridis, G.2
Buttner, T.3
Przuntek, H.4
Epplen, J.T.5
Riess, O.6
-
21
-
-
0343416801
-
Clinical and molecular features of spinocerebellar ataxia type 6
-
Stevanin G., Durr A., David G., et al. Clinical and molecular features of spinocerebellar ataxia type 6. Neurology. 49:1997;1243-1246.
-
(1997)
Neurology
, vol.49
, pp. 1243-1246
-
-
Stevanin, G.1
Durr, A.2
David, G.3
-
22
-
-
0032231668
-
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations
-
Takano H., Cancel G., Ikeuchi T., et al. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet. 63:1998;1060-1066.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1060-1066
-
-
Takano, H.1
Cancel, G.2
Ikeuchi, T.3
-
23
-
-
0029121944
-
Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry
-
Wakisaka A., Sasaki H., Takada A., et al. Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry. J Med Genet. 32:1995;590-592.
-
(1995)
J Med Genet
, vol.32
, pp. 590-592
-
-
Wakisaka, A.1
Sasaki, H.2
Takada, A.3
-
24
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
-
Zhuchenko O., Bailey J., Bonnen P., et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 15:1997;62-69.
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
|