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Machado-Joseph Disease

Known as: 3s, Spinocerebellar Ataxia, disease josephs, disease machado joseph 
A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and… Expand
National Institutes of Health

Related topics

Related topics

35 relations
Abnormal pyramidal signsAbnormality of extrapyramidal motor functionAnticipation, GeneticAtaxia, Truncal
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Narrower (2)

Machado-Joseph Disease Type IMachado-Joseph Disease Type IV

Broader (1)

Spinocerebellar Degeneration

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Machado–Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy
Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an incurable disorder, widely regarded as… Expand
Review
2018
Review
2018
Spinocerebellar ataxias: prospects and challenges for therapy development
The spinocerebellar ataxias (SCAs) comprise more than 40 autosomal dominant neurodegenerative disorders that present principally… Expand
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Review
2018
Review
2018
Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias
Autosomal dominant cerebellar ataxias (ADCAs) are a group of neurodegenerative disorders characterized by degeneration of the… Expand
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Highly Cited
1999
Highly Cited
1999
Frictionless Commerce? A Comparison of Internet and Conventional Retailers
There have been many claims that the Internet represents a new "frictionless market." Our research empirically analyzes the… Expand
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Highly Cited
1997
Highly Cited
1997
Randomised double-blind comparison of placebo and active treatment for older patients with isolated systolic hypertension
Summary Background Isolated systolic hypertension occurs in about 15% of people aged 60 years or older. In 1989, the European… Expand
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Highly Cited
1996
Highly Cited
1996
Spinocerebellar ataxia 3 and machado‐joseph disease: Clinical, molecular, and neuropathological features
Patients with spinocerebellar ataxia 3 (SCA3) and Machado‐Joseph disease (MJD) carry an expanded CAG repeat in the MJDl gene. One… Expand
Highly Cited
1995
Highly Cited
1995
Correlation between CAG repeat length and clinical features in Machado-Joseph disease.
Machado-Joseph disease (MJD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene on 14q32.1. We… Expand
Highly Cited
1994
Highly Cited
1994
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado-Joseph… Expand
Highly Cited
1993
Highly Cited
1993
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum… Expand
Highly Cited
1993
Highly Cited
1993
The gene for Machado–Joseph disease maps to human chromosome 14q
Machado–Joseph disease (MJD) is an autosomal dominant, multisystem neurodegenerative disorder involving predominantly cerebellar… Expand
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