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… (More)
National Institutes of Health

Related topics

Related topics

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

Narrower (2)

Machado-Joseph Disease Type IMachado-Joseph Disease Type IV

Broader (1)

Spinocerebellar Degeneration

Papers overview

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Highly Cited
2011
Highly Cited
2011
Excitation-induced ataxin-3 aggregation in neurons from patients with Machado–Joseph disease
Machado–Joseph disease (MJD; also called spinocerebellar ataxia type 3) is a dominantly inherited late-onset neurodegenerative… (More)
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Highly Cited
2004
Highly Cited
2004
A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration.
Machado-Joseph disease (MJD) is an inherited neurodegenerative disorder caused by ataxin-3 with a polyglutamine expansion. It is… (More)
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Highly Cited
1998
Highly Cited
1998
Characteristic magnetic resonance imaging findings in Machado-Joseph disease.
OBJECTIVE To clarify the characteristic magnetic resonance imaging (MRI) findings in patients with Machado-Joseph disease (MJD… (More)
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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
Jan A Staessen, Robert Fagard, Lutgarde Thijs, Hilde Celis, Guramy G Arabidze, Willem H Birkenhäger, Christopher J Bulpitt, Peter… (More)
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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 MJD1 gene. One… (More)
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1996
1996
Cognitive deficits in Machado-Joseph disease.
Cognitive function was examined in 6 patients with genetically confirmed Machado-Joseph disease (MJD) and 15 age- and ethnically… (More)
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Review
1995
Review
1995
Machado-Joseph disease.
Machado-Joseph disease (MJD) is a form of dominantly-inherited ataxia originally described in people of Azorean and Portuguese… (More)
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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… (More)
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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… (More)
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Review
1992
Review
1992
Machado-Joseph disease: an autosomal dominant motor system degeneration.
Machado-Joseph disease is an autosomal dominant spinocerebellar degeneration. It expresses itself clinically with variable… (More)
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