Art

J-GLOBAL ID：201402212454317741   Reference number：14A1151445

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

大脳基底核と小脳の萎縮によるミエリン形成不全: 表現型および遺伝子型-表現型相関の詳しい解説

Author (17)： HAMILTON Eline M. (VU Univ. Medical Centre, Amsterdam, NLD) ,  POLDER Emiel (VU Univ. Medical Centre, Amsterdam, NLD) ,  VANDERVER Adeline (Children’s National Medical Centre, Washington, USA) ,  NAIDU Sakkubai (Johns Hopkins Univ. School of Medicine, Baltimore, USA) ,  SCHIFFMANN Raphael (Baylor Res. Inst., Dallas, USA) ,  FISHER Kate (Worthing Hospital, Lyndhurst Road, Worthing, West Sussex, GBR) ,  RAGUZ Ana Boban (Clinical Hospital Mostar, Mostar, BIH) ,  BLUMKIN Luba (E. Wolfson Medical Centre, Holon, ISR) ,  H-ABC RESEARCH GROUP ,  VAN BERKEL Carola G. M. (VU Univ. Medical Centre, Amsterdam, NLD) ,  WAISFISZ Quinten (Children’s National Medical Centre, Washington, USA) ,  SIMONS Cas (Univ. of Queensland, Queensland, AUS) ,  TAFT Ryan J. (Univ. of Queensland, Queensland, AUS) ,  ABBINK Truus E. M. (VU Univ. Medical Centre, Amsterdam, NLD) ,  WOLF Nicole I. (VU Univ. Medical Centre, Amsterdam, NLD) ,  VAN DER KNAAP Marjo S. (VU Univ. Medical Centre, Amsterdam, NLD) ,  VAN DER KNAAP Marjo S. (VU Univ., Amsterdam, NLD)
Material： Brain
Volume： 137  Issue： 7  Page： 1921-1930  Publication year： Jul. 2014 
JST Material Number： C0919B  ISSN： 0006-8950  Document type： Article
Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Terms in the title (8)： 大脳基底核 ,  小脳 ,  萎縮 ,  ミエリン ,  形成不全 ,  表現型 ,  遺伝子型 ,  表現型相関