CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)

Known as: CMT4A, CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A, Charcot-Marie-Tooth disease, Type 4A 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1975-2018
02419752018

Papers overview

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2015
2015
Mutations in GDAP1, which encodes protein located in the mitochondrial outer membrane, cause axonal recessive (AR-CMT2), axonal… (More)
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2012
2012
Mutations in GDAP1 lead to recessively or dominantly inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT… (More)
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2011
2011
Mutations in the GDAP1 gene are responsible of the Charcot-Marie-Tooth CMT4A, ARCMT2K, and CMT2K variants. GDAP1 is a… (More)
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2010
2010
BACKGROUND Mutations in GDAP1 associate with demyelinating (CMT4A) and axonal (CMT2K) forms of CMT. While CMT4A shows recessive… (More)
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2008
2008
Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have… (More)
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2007
2007
Charcot-Marie-Tooth disease is a genetically heterogeneous group of hereditary motor and sensory neuropathies. Three loci for the… (More)
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2003
2003
Three Spanish families with an autosomal recessive severe hereditary motor and sensory neuropathy, showing mutations in the… (More)
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2003
2003
Mutations of the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause autosomal recessive Charcot-Marie… (More)
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Highly Cited
2002
Highly Cited
2002
We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT… (More)
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Highly Cited
2002
Highly Cited
2002
BACKGROUND Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) were recently shown to be… (More)
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