Art

J-GLOBAL ID：201302209832087204   Reference number：13A0484279

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

GBA2内の変異は痙性を伴う常染色体劣性の小脳性運動失調の原因となる

Author (23)： HAMMER Monia B. (Molecular Genetics Section, Lab. of Neurogenetics, National Inst. on Aging, National Institutes of Health, Bethesda ...) ,  HAMMER Monia B. (Dep. of Molecular Neurobiology and Neuropathology, National Inst. of Neurology, La Rabta, Tunis 1007, Tunisia) ,  ELEUCH-FAYACHE Ghada (Dep. of Molecular Neurobiology and Neuropathology, National Inst. of Neurology, La Rabta, Tunis 1007, Tunisia) ,  SCHOTTLAENDER Lucia V. (Dep. of Molecular Neuroscience and The MRC Centre for Neuromuscular Diseases, UCL Inst. of Neurology, and The ...) ,  NEHDI Houda (Dep. of Molecular Neurobiology and Neuropathology, National Inst. of Neurology, La Rabta, Tunis 1007, Tunisia) ,  GIBBS J. Raphael (Molecular Genetics Section, Lab. of Neurogenetics, National Inst. on Aging, National Institutes of Health, Bethesda ...) ,  GIBBS J. Raphael (Reta Lila Weston Laboratories and Dep. of Molecular Neuroscience, UCL Inst. of Neurology, Queen Square, London WC1N ...) ,  AREPALLI Sampath K. (Molecular Genetics Section, Lab. of Neurogenetics, National Inst. on Aging, National Institutes of Health, Bethesda ...) ,  CHONG Sean B. (Molecular Genetics Section, Lab. of Neurogenetics, National Inst. on Aging, National Institutes of Health, Bethesda ...) ,  HERNANDEZ Dena G. (Molecular Genetics Section, Lab. of Neurogenetics, National Inst. on Aging, National Institutes of Health, Bethesda ...) ,  HERNANDEZ Dena G. (Reta Lila Weston Laboratories and Dep. of Molecular Neuroscience, UCL Inst. of Neurology, Queen Square, London WC1N ...) ,  SAILER Anna (Dep. of Molecular Neuroscience and The MRC Centre for Neuromuscular Diseases, UCL Inst. of Neurology, and The ...) ,  LIU Guoxiang (Molecular Genetics Section, Lab. of Neurogenetics, National Inst. on Aging, National Institutes of Health, Bethesda ...) ,  MISTRY Pramod K. (Section of Pediatric Gastroenterology and Hepatology, Dep. of Pediatrics and Medicine, Yale Univ. School of Medicine ...) ,  CAI Huaibin (Molecular Genetics Section, Lab. of Neurogenetics, National Inst. on Aging, National Institutes of Health, Bethesda ...) ,  SHRADER Ginamarie (Molecular Genetics Section, Lab. of Neurogenetics, National Inst. on Aging, National Institutes of Health, Bethesda ...) ,  SASSI Celeste (Molecular Genetics Section, Lab. of Neurogenetics, National Inst. on Aging, National Institutes of Health, Bethesda ...) ,  SASSI Celeste (Reta Lila Weston Laboratories and Dep. of Molecular Neuroscience, UCL Inst. of Neurology, Queen Square, London WC1N ...) ,  BOUHLAL Yosr (Inst. of Human Genetics, UCSF, 513 Parnassus Avenue, Box 0793, San Francisco, CA 94143, USA) ,  HOULDEN Henry (Dep. of Molecular Neuroscience and The MRC Centre for Neuromuscular Diseases, UCL Inst. of Neurology, and The ...) ,  HENTATI Faycal (Dep. of Molecular Neurobiology and Neuropathology, National Inst. of Neurology, La Rabta, Tunis 1007, Tunisia) ,  AMOURI Rim (Dep. of Molecular Neurobiology and Neuropathology, National Inst. of Neurology, La Rabta, Tunis 1007, Tunisia) ,  SINGLETON Andrew B. (Molecular Genetics Section, Lab. of Neurogenetics, National Inst. on Aging, National Institutes of Health, Bethesda ...)
Material： American Journal of Human Genetics  (AJHG)
Volume： 92  Issue： 2  Page： 245-251  Publication year： Feb. 07, 2013 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Terms in the title (5)： 変異 ,  常染色体 ,  劣性 ,  小脳性運動失調 ,  原因