deletion at itpr1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans删除在itpr1背后共济失调在小鼠和人类脊髓小脑的共济失调15.pdfVIP

Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans 1,2[ 3,4[ 5 6 1,7 Joyce van de Leemput , Jayanth Chandran , Melanie A. Knight , Lynne A. Holtzclaw , Sonja Scholz , Mark R. Cookson8 9 10 7,11,12 3 1 , Henry Houlden , Katrina Gwinn-Hardy , Hon-Chung Fung , Xian Lin , Dena Hernandez , Javier Simon-Sanchez1,13 9 9 1 7,11 14,15 , Nick W. Wood , Paola Giunti , Ian Rafferty , John Hardy , Elsdon Storey , R. J. McKinlay Gardner15,16 17 2 6 3 , Susan M. Forrest , Elizabeth M. C. Fisher , James T. Russell , Huaibin Cai , 1* Andrew B. Singleton 1 Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America, 2 Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London, United Kingdom, 3 Transgenics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America, 4 Department of Biology, Johns Hopkins University, Baltimore, Maryland, United States of America, 5 Neurogenetics Branch, National Institute of Neurological Disorders and Stroke,