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

Papers overview

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Highly Cited
2011
Highly Cited
2011
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
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
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
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
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 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 (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
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
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 is an autosomal dominant spinocerebellar degeneration. It expresses itself clinically with variable… (More)
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