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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2002-12-24
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pubmed:abstractText |
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) were recently shown to be responsible for autosomal recessive (AR) demyelinating Charcot-Marie-Tooth disease (CMT) type 4A (CMT4A) as well as AR axonal CMT with vocal cord paralysis.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0028-3878
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pubmed:author |
pubmed-author:Belpaire-DethiouM-CMC,
pubmed-author:CeuterickCC,
pubmed-author:CuestaAA,
pubmed-author:De JonghePP,
pubmed-author:DemirciMM,
pubmed-author:ErdemSS,
pubmed-author:Gabreëls-FestenA A W MAA,
pubmed-author:NelisEE,
pubmed-author:PalatGG,
pubmed-author:PedrolaLL,
pubmed-author:TanEE,
pubmed-author:TimmermanVV,
pubmed-author:TopalogluHH,
pubmed-author:Van BroeckhovenCC,
pubmed-author:Van Den BerghP Y KPY,
pubmed-author:Van GerwenVV,
pubmed-author:VerellenCC
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pubmed:issnType |
Print
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pubmed:day |
24
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pubmed:volume |
59
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1865-72
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:12499475-Age of Onset,
pubmed-meshheading:12499475-Axons,
pubmed-meshheading:12499475-Charcot-Marie-Tooth Disease,
pubmed-meshheading:12499475-Child,
pubmed-meshheading:12499475-Child, Preschool,
pubmed-meshheading:12499475-Chromosomes, Human, Pair 8,
pubmed-meshheading:12499475-Demyelinating Diseases,
pubmed-meshheading:12499475-Electrophysiology,
pubmed-meshheading:12499475-Family,
pubmed-meshheading:12499475-Female,
pubmed-meshheading:12499475-Genes, Recessive,
pubmed-meshheading:12499475-Genetic Linkage,
pubmed-meshheading:12499475-Genetic Testing,
pubmed-meshheading:12499475-Humans,
pubmed-meshheading:12499475-Infant,
pubmed-meshheading:12499475-Male,
pubmed-meshheading:12499475-Mutation,
pubmed-meshheading:12499475-Nerve Tissue Proteins,
pubmed-meshheading:12499475-Neural Conduction,
pubmed-meshheading:12499475-Pedigree,
pubmed-meshheading:12499475-Sural Nerve,
pubmed-meshheading:12499475-Turkey
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pubmed:year |
2002
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pubmed:articleTitle |
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
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pubmed:affiliation |
Molecular Genetics Department, Flanders Interuniversity Institute of Biotechnology, Belgium.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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