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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… Expand
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Highly Cited
2012
Highly Cited
2012
Mutations in GDAP1 lead to recessively or dominantly inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT… Expand
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… Expand
Highly Cited
2008
Highly Cited
2008
Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have… Expand
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2007
2007
Toll‐like receptors and RNA helicase family members [retinoic acid‐inducible gene I (RIG‐I) and melanoma differentiation… Expand
Highly Cited
2006
Highly Cited
2006
  • K. Hui, C. Chao
  • Journal of hazardous materials
  • 2006
  • Corpus ID: 27509469
Single phase chamfered-edge zeolite 4A samples in pure form with a high crystallinity were synthesized by applying step-change of… Expand
Highly Cited
2003
Highly Cited
2003
Three Spanish families with an autosomal recessive severe hereditary motor and sensory neuropathy, showing mutations in the… Expand
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… Expand
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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… Expand
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Highly Cited
1997
Highly Cited
1997
The hereditary sensory and motor neuropathies form a clinically heterogenous group of disorders, the most frequent of which is… Expand
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