Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

• Joyce van de Leemput ,

  Contributed equally to this work with: Joyce van de Leemput, Jayanth Chandran

  Affiliations Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America, Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London, United Kingdom

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• Jayanth Chandran ,

  Contributed equally to this work with: Joyce van de Leemput, Jayanth Chandran

  Affiliations Transgenics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America, Department of Biology, Johns Hopkins University, Baltimore, Maryland, United States of America

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• Melanie A Knight,

  Affiliation Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America

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• Lynne A Holtzclaw,

  Affiliation Section on Cell Biology and Signal Transduction, National Institute on Child Health and Development, National Institutes of Health, Bethesda, Maryland, United States of America

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• Sonja Scholz,

  Affiliations Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America, Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom

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• Mark R Cookson,

  Affiliation Cell Biology and Gene Expression Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America

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• Henry Houlden,

  Affiliation Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom

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• Katrina Gwinn-Hardy,

  Affiliation National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America

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• Hon-Chung Fung,

  Affiliations Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America, Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taipei, Taiwan

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• Xian Lin,

  Affiliation Transgenics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America

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• Dena Hernandez,

  Affiliation Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America

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• Javier Simon-Sanchez,

  Affiliations Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America, Unitat de Genética Molecular, Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Científicas, Valencia, Spain

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• Nick W Wood,

  Affiliation Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom

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• Paola Giunti,

  Affiliation Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom

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• Ian Rafferty,

  Affiliation Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America

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• John Hardy,

  Affiliations Reta Lila Weston Institute of Neurological Studies, University College London, London, United Kingdom, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America

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• Elsdon Storey,

  Affiliations Department of Medicine, Alfred Hospital, Monash University, Melbourne, Australia, Genetic Health Services Victoria, Melbourne, Australia

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• R. J. McKinlay Gardner,

  Affiliations Genetic Health Services Victoria, Melbourne, Australia, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia

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• Susan M Forrest,

  Affiliation Australian Genome Research Facility, Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia

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• Elizabeth M. C Fisher,

  Affiliation Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London, United Kingdom

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• James T Russell,

  Affiliation Section on Cell Biology and Signal Transduction, National Institute on Child Health and Development, National Institutes of Health, Bethesda, Maryland, United States of America

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• Huaibin Cai,

  Affiliation Transgenics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America

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•  [ ... ],
• Andrew B Singleton

  *To whom correspondence should be addressed. E-mail: singleta@mail.nih.gov

  Affiliation Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America

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