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
2017
Review
2017
The UniProt knowledgebase is a large resource of protein sequences and associated detailed annotation. The database contains over… (More)
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Highly Cited
2011
Highly Cited
2011
Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. Mutations in the 27-kDa… (More)
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Highly Cited
2011
Highly Cited
2011
The UniProt Knowledgebase (UniProtKB) acts as a central hub of protein knowledge by providing a unified view of protein sequence… (More)
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Highly Cited
2007
Highly Cited
2007
Cyrille Violle (cyrille.violle@cefe.cnrs.fr), Marie-Laure Navas, Denis Vile, Elena Kazakou, Claire Fortunel, Irène Hummel and… (More)
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Review
2006
Review
2006
Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of disorders sharing the same clinical phenotype… (More)
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Review
2006
Review
2006
The autosomal-dominant axonal peripheral neuropathies comprise a genetically heterogeneous group of disorders that are clinically… (More)
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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… (More)
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Highly Cited
1997
Highly Cited
1997
The relationship between the loss of connexin 32 function and clinical manifestations of X-linked Charcot-Marie-Tooth (CMTX… (More)
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Highly Cited
1992
Highly Cited
1992
We have investigated the peripheral myelin protein gene, PMP–22, in a family with Charcot–Marie–Tooth disease type 1A (CMT1A… (More)
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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… (More)
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