Titre:
  • Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
Auteur:Vaurs-Barrière, Catherine; Deville, Marlène; Sarret, Catherine; Giraud, Geneviève; Des Portes, Vincent; Prats-Viñas, José-Maria; De Michele, G; Dan, Bernard; Brady, Angela F; Boespflug-Tanguy, Odile; Touraine, Renaud
Informations sur la publication:Annals of neurology, 65, 1, page (114-118)
Statut de publication:Publié, 2009-01
Sujet CREF:Sciences bio-médicales et agricoles
Psychologie
MeSH keywords:Brain -- pathology
Child
DNA Mutational Analysis
Disease Progression
Exons -- genetics
Family Health
Follow-Up Studies
Genetic Predisposition to Disease
Humans
Magnetic Resonance Imaging -- methods
Male
Monocarboxylic Acid Transporters -- genetics
Mutation -- genetics
Myelin Sheath -- pathology
Pelizaeus-Merzbacher Disease -- blood
Pelizaeus-Merzbacher Disease -- genetics
Pelizaeus-Merzbacher Disease -- pathology
Pelizaeus-Merzbacher Disease -- physiopathology
Thyroxine -- blood
Triiodothyronine -- blood
Note générale:Journal Article
Research Support, Non-U.S. Gov't
FLWIN
Langue:Anglais
Identificateurs:urn:issn:0364-5134
info:doi/10.1002/ana.21579
info:scp/60749137633
info:pmid/19194886