-
2
-
-
10544251065
-
Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins
-
Gaspar, C., I. Lopes-Cendes, A.L. DeStefano et al. 1996. Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins. Hum. Genet. 98:620-624.
-
(1996)
Hum. Genet.
, vol.98
, pp. 620-624
-
-
Gaspar, C.1
Lopes-Cendes, I.2
DeStefano, A.L.3
-
3
-
-
84985818064
-
Evolution du patrimoine génétique des Kel Kumer
-
Jacquard, A. 1972. Evolution du patrimoine génétique des Kel Kumer. Population 4-5:784-800.
-
(1972)
Population
, vol.4-5
, pp. 784-800
-
-
Jacquard, A.1
-
4
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi, Y., T. Okamoto, M. Taniwaki et al. 1994. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Natur. Genet. 8:221-228.
-
(1994)
Natur. Genet.
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
5
-
-
2242495213
-
-
IREP Document III-C-43. Chicoutimi, Canada: University of Quebec
-
Kouladjian, K. 1986. Une mesure d'entropie généalogique. IREP Document III-C-43. Chicoutimi, Canada: University of Quebec.
-
(1986)
Une Mesure D'entropie Généalogique
-
-
Kouladjian, K.1
-
6
-
-
0018872672
-
Clinical criteria for diagnosis of Machado-Joseph disease: Report of a non-Azorean Portuguese family
-
Lima, L., and P. Coutinho. 1980. Clinical criteria for diagnosis of Machado-Joseph disease: Report of a non-Azorean Portuguese family. Neurology 30:319-322.
-
(1980)
Neurology
, vol.30
, pp. 319-322
-
-
Lima, L.1
Coutinho, P.2
-
7
-
-
85196607758
-
Founder effect in Machado-Joseph disease on the island of São Miguel (Azores, Portugal)
-
Lima, M. 1994. Founder effect in Machado-Joseph disease on the island of São Miguel (Azores, Portugal). Am. J. Hum. Genet. 55(3):335.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, Issue.3
, pp. 335
-
-
Lima, M.1
-
8
-
-
3643079147
-
-
Ph.D. dissertation, University of the Azores, Ponta Delgada, Portugal
-
Lima, M. 1996. Doença de Machado-Joseph nos Açores: Estudo epidemiológico, biodemográfico e genético. Ph.D. dissertation, University of the Azores, Ponta Delgada, Portugal.
-
(1996)
Doença de Machado-Joseph Nos Açores: Estudo Epidemiológico, Biodemográfico e Genético
-
-
Lima, M.1
-
10
-
-
85196592220
-
The origins of the Machado-Joseph disease mutation in the islands of the Azores (Portugal): Genealogical research and analysis
-
Montreal, Canada
-
Lima, M., A. Abade, P. Coutinho et al. 1997. The origins of the Machado-Joseph disease mutation in the islands of the Azores (Portugal): Genealogical research and analysis. International Meeting on Hereditary Ataxias, Montreal, Canada.
-
(1997)
International Meeting on Hereditary Ataxias
-
-
Lima, M.1
Abade, A.2
Coutinho, P.3
-
11
-
-
0031172472
-
Prevalence, geographical distribution, and genealogical investigation of Machado-Joseph disease in the islands of the Azores (Portugal)
-
Lima, M., F. Mayer, P. Coutinho et al. 1997. Prevalence, geographical distribution, and genealogical investigation of Machado-Joseph disease in the islands of the Azores (Portugal). Hum. Biol. 69(3):383-391.
-
(1997)
Hum. Biol.
, vol.69
, Issue.3
, pp. 383-391
-
-
Lima, M.1
Mayer, F.2
Coutinho, P.3
-
12
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
-
Maciel, P., C. Gaspar, A. DeStefano et al. 1995. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am. J. Hum. Genet. 57:54-61.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 54-61
-
-
Maciel, P.1
Gaspar, C.2
DeStefano, A.3
-
14
-
-
0015251021
-
Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts
-
Nakano, K., D.M. Dawson, and A. Spence. 1972. Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 22:49-55.
-
(1972)
Neurology
, vol.22
, pp. 49-55
-
-
Nakano, K.1
Dawson, D.M.2
Spence, A.3
-
15
-
-
85196583514
-
A família Coelho dos Campos oficializada pelo Santo Ofício
-
Payo, L. 1992. A família Coelho dos Campos oficializada pelo Santo Ofício. Armas e Troféus 4(1-3):39-103.
-
(1992)
Armas e Troféus
, vol.4
, Issue.1-3
, pp. 39-103
-
-
Payo, L.1
-
16
-
-
0017117382
-
Autosomal dominant striatonigral degeneration: A clinical, pathologic, and biochemical study of a new genetic disorder
-
Rosenberg, R., W.L. Nyhan, C. Bay et al. 1976. Autosomal dominant striatonigral degeneration: A clinical, pathologic, and biochemical study of a new genetic disorder. Neurology 26:703-714.
-
(1976)
Neurology
, vol.26
, pp. 703-714
-
-
Rosenberg, R.1
Nyhan, W.L.2
Bay, C.3
-
18
-
-
0027356605
-
Epidemiology and clinical aspects of Machado-Joseph disease
-
Sequeiros, J., and P. Coutinho. 1993. Epidemiology and clinical aspects of Machado-Joseph disease. Adv. Neurol. 61:139-153.
-
(1993)
Adv. Neurol.
, vol.61
, pp. 139-153
-
-
Sequeiros, J.1
Coutinho, P.2
-
19
-
-
9344245162
-
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
-
Silveira, I., I. Lopes-Cendes, S. Kish et al. 1996. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology 46:214-218.
-
(1996)
Neurology
, vol.46
, pp. 214-218
-
-
Silveira, I.1
Lopes-Cendes, I.2
Kish, S.3
-
20
-
-
0026793566
-
Research initiatives on MJD: National Institute of Neurological Disorders and Stroke Workshop summary
-
Spinella, G., and P.H. Sheridan. 1992. Research initiatives on MJD: National Institute of Neurological Disorders and Stroke Workshop summary. Neurology 42:2048-2051.
-
(1992)
Neurology
, vol.42
, pp. 2048-2051
-
-
Spinella, G.1
Sheridan, P.H.2
-
21
-
-
0028787581
-
Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: Evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation
-
Stevanin, G., G. Cancel, O. Didierjean et al. 1995. Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: Evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation. Am. J. Hum. Genet. 57:1247-1250.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1247-1250
-
-
Stevanin, G.1
Cancel, G.2
Didierjean, O.3
-
22
-
-
0029009456
-
Evidence for intergenerational 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., S. Igarashi, E.A. Rogaeva et al. 1995. Evidence for intergenerational 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. Molec. Genet. 4(7):1137-1146.
-
(1995)
Hum. Molec. Genet.
, vol.4
, Issue.7
, pp. 1137-1146
-
-
Takiyama, Y.1
Igarashi, S.2
Rogaeva, E.A.3
-
23
-
-
0027279503
-
The gene for Machado-Joseph disease maps to human chromosome 14q
-
Takiyama, Y., M. Nishizawa, H. Tanaka et al. 1993. The gene for Machado-Joseph disease maps to human chromosome 14q. Natur. Genet. 4(3):300-304.
-
(1993)
Natur. Genet.
, vol.4
, Issue.3
, pp. 300-304
-
-
Takiyama, Y.1
Nishizawa, M.2
Tanaka, H.3
-
24
-
-
0015412724
-
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: A unique and partially treatable clinico-pathological entity
-
Woods, B.T., and H.H. Schaumburg. 1972. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: A unique and partially treatable clinico-pathological entity. Neurol. Sci. 17:149-166.
-
(1972)
Neurol. Sci.
, vol.17
, pp. 149-166
-
-
Woods, B.T.1
Schaumburg, H.H.2
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