Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Mutations in GDAP1, which encodes protein located in the mitochondrial outer membrane, cause axonal recessive (AR-CMT2), axonal… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2012
2012
Mutations in GDAP1 lead to recessively or dominantly inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT… Expand
Is this relevant?
2012
2012
CYP2E1, CYP2A6 and CYP3A5 enzymes belong to phase I group of drug-metabolizing enzymes, which are involved in the metabolism of… Expand
  • table I
  • table II
  • table IV
Is this relevant?
Review
2011
Review
2011
Mitochondrial disorders (MIDs) occasionally manifest as polyneuropathy either as the dominant feature or as one of many other… Expand
Is this relevant?
2008
2008
Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have… Expand
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
2007
2007
Toll-like receptors and RNA helicase family members [retinoic acid-inducible gene I (RIG-I) and melanoma differentiation… Expand
Is this relevant?
2006
2006
Single phase chamfered-edge zeolite 4A samples in pure form with a high crystallinity were synthesized by applying step-change of… Expand
Is this relevant?
Highly Cited
2003
Highly Cited
2003
Three Spanish families with an autosomal recessive severe hereditary motor and sensory neuropathy, showing mutations in the… Expand
Is this relevant?
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
  • figure 1
  • figure 2
  • figure 1
Is this relevant?
1997
1997
The hereditary sensory and motor neuropathies form a clinically heterogenous group of disorders, the most frequent of which is… Expand
  • figure 1
  • table 2
  • figure 2
  • figure 3
  • figure 4
Is this relevant?