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Open Access
Peer-reviewed
Research Article
Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans
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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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Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans
- Joyce van de Leemput,
- Jayanth Chandran,
- Melanie A Knight,
- Lynne A Holtzclaw,
- Sonja Scholz,
- Mark R Cookson,
- Henry Houlden,
- Katrina Gwinn-Hardy,
- Hon-Chung Fung,
- Xian Lin
- Published: June 22, 2007
- https://doi.org/10.1371/journal.pgen.0030108