Machado-Joseph disease with retinal degeneration and dementia.

Item

http://www.wikidata.org/entity/Q43923064

description

2001 nî lūn-bûn

@nan

2001年の論文

@ja

2001年学术文章

@wuu

2001年学术文章

@zh

2001年学术文章

@zh-cn

2001年学术文章

@zh-hans

2001年学术文章

@zh-my

2001年学术文章

@zh-sg

2001年學術文章

@yue

2001年學術文章

@zh-hant

name

Machado-Joseph disease with retinal degeneration and dementia.

@en

Machado-Joseph disease with retinal degeneration and dementia.

@nl

type

Item

label

Machado-Joseph disease with retinal degeneration and dementia.

@en

Machado-Joseph disease with retinal degeneration and dementia.

@nl

prefLabel

Machado-Joseph disease with retinal degeneration and dementia.

@en

Machado-Joseph disease with retinal degeneration and dementia.

@nl

P1476

Machado-Joseph disease with retinal degeneration and dementia.

@en

P2093

Eiraku N

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Ikeda K

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Isashiki Y

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Kubota S

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Nakagawa M

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Osame M

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P2860

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions.

Machado-Joseph disease: an autosomal dominant motor system degeneration.

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.

Pure cerebellar ataxia phenotype in Machado-Joseph disease.

A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy.

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

P304

402-405

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P31

scholarly article

P356

10.1034/J.1600-0404.2001.00120.X

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P407

English

P433

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P478

104

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P577

2001-12-01T00:00:00Z

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P698

11903098

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