-
1
-
-
0029151475
-
Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus
-
Cancel G., Abbas N., Stevanin G.et al. Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am. J. Hum. Genet. 57:1995;809-816.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 809-816
-
-
Cancel, G.1
Abbas, N.2
Stevanin, G.3
-
2
-
-
0029890963
-
A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease
-
DeStefano A.L., Cupples L.A., Maciel P.et al. A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. Am. J. Hum. Genet. 59:1996;119-127.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 119-127
-
-
DeStefano, A.L.1
Cupples, L.A.2
Maciel, P.3
-
3
-
-
2442761245
-
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: Implications for the molecular mechanisms of the instability of the CAG repeat
-
Igarashi S., Takiyama Y., Cancel G.et al. Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. Hum. Mol. Genet. 5:1996;923-932.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 923-932
-
-
Igarashi, S.1
Takiyama, Y.2
Cancel, G.3
-
4
-
-
0029044667
-
Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat
-
Ikeuchi T., Koide R., Tanaka H.et al. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann. Neurol. 37:1995;769-775.
-
(1995)
Ann. Neurol.
, vol.37
, pp. 769-775
-
-
Ikeuchi, T.1
Koide, R.2
Tanaka, H.3
-
5
-
-
0028229119
-
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1
-
Jodice C., Malaspina P., Persichetti F.et al. Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1. Am. J. Hum. Genet. 54:1994;959-965.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 959-965
-
-
Jodice, C.1
Malaspina, P.2
Persichetti, F.3
-
6
-
-
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. Nature Genet. 8:1994;221-227.
-
(1994)
Nature Genet.
, vol.8
, pp. 221-227
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
7
-
-
0018872672
-
Clinical criteria for diagnosis of Machado-Joseph disease: Report of a non-Azorean Portuguese family
-
Lima L., Coutinho P. Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorean Portuguese family. Neurology. 30:1980;319-322.
-
(1980)
Neurology
, vol.30
, pp. 319-322
-
-
Lima, L.1
Coutinho, P.2
-
8
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
-
Maciel P., Gasper C., DeStefano A.L.et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am. J. Hum. Genet. 57:1995;54-61.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 54-61
-
-
Maciel, P.1
Gasper, C.2
DeStefano, A.L.3
-
9
-
-
0004136246
-
-
Cold Spring Harbor, New York.
-
Maniatis, T., Fritsch, E.F., Sambrook, J., 1989. Molecular Cloning: A Laboratory Manual, 2nd ed. Cold Spring Harbor, New York.
-
(1989)
Molecular Cloning: A Laboratory Manual, 2nd Ed
-
-
Maniatis, T.1
Fritsch, E.F.2
Sambrook, J.3
-
10
-
-
0031009690
-
A family with Dentato-rubro-pallido-luysian atrophy (DRPLA): An intergenerational contraction of the CAG repeat
-
Murata K., Matsumura R., Nakamuro T., Ichikawa S., Takayanagi T. A family with Dentato-rubro-pallido-luysian atrophy (DRPLA): an intergenerational contraction of the CAG repeat. Clin. Neurol. (in Japanese). 37:1997;127-130.
-
(1997)
Clin. Neurol. (in Japanese)
, vol.37
, pp. 127-130
-
-
Murata, K.1
Matsumura, R.2
Nakamuro, T.3
Ichikawa, S.4
Takayanagi, T.5
-
11
-
-
0015251021
-
Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts
-
Nakano K.K., Dawson D.M., Spence A. Machado disease: a hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology. 22:1972;49-55.
-
(1972)
Neurology
, vol.22
, pp. 49-55
-
-
Nakano, K.K.1
Dawson, D.M.2
Spence, A.3
-
13
-
-
0028100732
-
Molecular and clinical correlations in spinocerebellar ataxia type I: Evidence for familial effects on the age at onset
-
Ranum L.W., Chung M.Y., Banfi S.et al. Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am. J. Hum. Genet. 55:1994;244-252.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 244-252
-
-
Ranum, L.W.1
Chung, M.Y.2
Banfi, S.3
-
14
-
-
0017117382
-
Autosomal dominant striatonigral degeneration: A clinical, pathologic, and biochemical study of a new genetic disorder
-
Rosenberg R.N., Nyhan W.L., Bay C., Shore P. Autosomal dominant striatonigral degeneration: a clinical, pathologic, and biochemical study of a new genetic disorder. Neurology. 26:1976;703-714.
-
(1976)
Neurology
, vol.26
, pp. 703-714
-
-
Rosenberg, R.N.1
Nyhan, W.L.2
Bay, C.3
Shore, P.4
-
15
-
-
0028890672
-
Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families
-
Sasaki H., Wakisaka A., Takada A.et al. Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families. Am. J. Hum. Genet. 56:1995;231-242.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 231-242
-
-
Sasaki, H.1
Wakisaka, A.2
Takada, A.3
-
16
-
-
0028828427
-
CAG repeat expansion of Machado-Joseph disease in the Japanese: Analysis of the repeat instability for parental transmission and correlation with disease phenotype
-
Sasaki H., Wakisaka A., Fukazawa T.et al. CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission and correlation with disease phenotype. J. Neurol. Sci. 133:1995;128-133.
-
(1995)
J. Neurol. Sci.
, vol.133
, pp. 128-133
-
-
Sasaki, H.1
Wakisaka, A.2
Fukazawa, T.3
-
17
-
-
0028291077
-
Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds
-
Sequeiros J., Silveira I., Maciel P.et al. Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds. Genomics. 21:1994;645-648.
-
(1994)
Genomics
, vol.21
, pp. 645-648
-
-
Sequeiros, J.1
Silveira, I.2
Maciel, P.3
-
18
-
-
0028141728
-
Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14
-
St. George-Hyslop P., Rogaeva E., Huterer J.et al. Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. Am. J. Hum. Genet. 55:1994;120-125.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 120-125
-
-
St. George-Hyslop, P.1
Rogaeva, E.2
Huterer, J.3
-
19
-
-
0027279503
-
The gene for Machado-Joseph disease maps to human chromosome 14q
-
Takiyama Y., Nishizawa M., Tanaka H.et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet. 4:1993;300-304.
-
(1993)
Nature Genet.
, vol.4
, pp. 300-304
-
-
Takiyama, Y.1
Nishizawa, M.2
Tanaka, H.3
-
20
-
-
0028141691
-
A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q
-
Takiyama Y., Oyanagi S., Kawashima S., Sakamoto H., Saito K., Yoshida M., Tsuji S., Mizuno Y., Nishizawa M. A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology. 44:1994;1302-1308.
-
(1994)
Neurology
, vol.44
, pp. 1302-1308
-
-
Takiyama, Y.1
Oyanagi, S.2
Kawashima, S.3
Sakamoto, H.4
Saito, K.5
Yoshida, M.6
Tsuji, S.7
Mizuno, Y.8
Nishizawa, M.9
-
21
-
-
0029009456
-
Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
-
Takiyama Y., Igarashi S., Rogaeva E.A.et al. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum. Mol. Genet. 4:1995;1137-1146.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1137-1146
-
-
Takiyama, Y.1
Igarashi, S.2
Rogaeva, E.A.3
-
22
-
-
0015412724
-
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: A unique and partially treatable clinicopathological entity
-
Woods B.T., Schaumburg H.H. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clinicopathological entity. J. Neurol. Sci. 26:1972;149-166.
-
(1972)
J. Neurol. Sci.
, vol.26
, pp. 149-166
-
-
Woods, B.T.1
Schaumburg, H.H.2
-
23
-
-
0031035516
-
Machado-Joseph disease in four Chinese pedigrees: Molecular analysis of 15 patients including two juvenile cases and clinical correlations
-
Zhou Y.X., Takiyama Y., Igarashi S.et al. Machado-Joseph disease in four Chinese pedigrees: molecular analysis of 15 patients including two juvenile cases and clinical correlations. Neurology. 48:1997;482-485.
-
(1997)
Neurology
, vol.48
, pp. 482-485
-
-
Zhou, Y.X.1
Takiyama, Y.2
Igarashi, S.3
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