Article révisé par les pairs
Titre:
  • Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Auteur:Baets, Jonathan; Deconinck, Tine; De Vriendt, Els; Zimoń, Magdalena; Yperzeele, Laetitia; Van Hoorenbeeck, Kim; Peeters, Kristien; Spiegel, Ronen; Parman, Yesim; Ceulemans, Berten; Van Bogaert, Patrick; Pou-Serradell, Adolf; Bernert, Günther; Dinopoulos, Argirios; Auer-Grumbach, Michaela; Sallinen, Satu-Leena; Fabrizi, Gian Maria; Pauly, Fernand; Van den Bergh, Peter; Bilir, Birdal; Battaloglu, Esra; Madrid, Ricardo E; Kabzińska, Dagmara; Kochanski, Andrzej; Topaloglu, Haluk; Miller, Geoffrey; Jordanova, Albena; Timmerman, Vincent; de Jonghe, Peter
Informations sur la publication:Brain, 134, Pt 9, page (2664-2676)
Statut de publication:Publié, 2011-09
Sujet CREF:Neurologie
Génétique clinique
Mots-clés:Charcot-Marie-Tooth disease
congenital hypomyelinating neuropathy
Dejerine-Sottas neuropathy
early onset hereditary neuropathies
genotype-phenotype correlations
MeSH keywords:Adolescent
Adult
Age of Onset
Aged
Charcot-Marie-Tooth Disease -- genetics -- pathology -- physiopathology
Child
Child, Preschool
Cohort Studies
DNA Mutational Analysis
Hereditary Sensory and Motor Neuropathy -- genetics -- pathology -- physiopathology
Humans
Infant
Middle Aged
Mutation
Phenotype
Young Adult
Note générale:Journal Article
Research Support, Non-U.S. Gov't
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0006-8950
info:doi/10.1093/brain/awr184
info:pii/awr184
info:scp/80052927465
info:pmid/21840889
PMC3170533

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