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

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

Papers overview

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Highly Cited
2015
Highly Cited
2015
Mutations in GDAP1, which encodes protein located in the mitochondrial outer membrane, cause axonal recessive (AR-CMT2), axonal… 
Highly Cited
2012
Highly Cited
2012
Mutations in GDAP1 lead to recessively or dominantly inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT… 
Highly Cited
2008
Highly Cited
2008
A series of mixed ligand ruthenium(II) complexes [Ru(pdto)(diimine)](ClO4)2/(PF6)2 1-3 and [Ru(bbdo)(diimine)](ClO4), 4-6, where… 
Highly Cited
2008
Highly Cited
2008
Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have… 
Highly Cited
2003
Highly Cited
2003
Three Spanish families with an autosomal recessive severe hereditary motor and sensory neuropathy, showing mutations in the… 
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… 
Highly Cited
2002
Highly Cited
2002
Background: Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) were recently shown to be…