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Charcot-Marie-Tooth Disease, Type Ia (disorder)

Known as: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A, Hereditary Motor and Sensory Neuropathy 1A, Charcot-Marie-Tooth Disease Type 1A 
Charcot-Marie-Tooth disease caused by mutations in the PMP22 gene (mapped to chromosome 17), resulting in peripheral nerve demyelination.
National Institutes of Health

Papers overview

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Review
2019
Review
2019
Idiopathic inflammatory myopathies (IIM) are a group of diseases characterized by immune-mediated muscular lesions that may be… Expand
Highly Cited
2011
Highly Cited
2011
  • M. Magrane
  • Database J. Biol. Databases Curation
  • 2011
  • Corpus ID: 14076525
The UniProt Knowledgebase (UniProtKB) acts as a central hub of protein knowledge by providing a unified view of protein sequence… Expand
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Highly Cited
2007
Highly Cited
2007
In its simplest definition, a trait is a surrogate of organismal performance, and this meaning of the term has been used by… Expand
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Highly Cited
2007
Highly Cited
2007
Mutations in the mitochondrial fusion gene Mfn2 cause the human neurodegenerative disease Charcot-Marie-Tooth type 2A. However… Expand
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Highly Cited
2004
Highly Cited
2004
We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in seven large pedigrees affected with… Expand
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Highly Cited
2001
Highly Cited
2001
The kinesin superfamily motor protein KIF1B has been shown to transport mitochondria. Here, we describe an isoform of KIF1B… Expand
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Highly Cited
1993
Highly Cited
1993
X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was… Expand
Highly Cited
1993
Highly Cited
1993
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that causes episodes of focal… Expand
Highly Cited
1991
Highly Cited
1991
Charcot-Marie-tooth disease type 1A (CMT1A) was localized by genetic mapping to a 3 cM interval on human chromosome 17p. DNA… Expand
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Highly Cited
1974
Highly Cited
1974
  • H. Skre
  • Clinical genetics
  • 1974
  • Corpus ID: 45225191
The prevalence of Charcot‐Marie‐Tooth's disease (CMT) was studied in Western Norway, an area with several isolated districts with… Expand