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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

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Title: A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
Authors: Beijer D; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany., Dohrn MF; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Department of Neurology, Medical Faculty RWTH Aachen University, Aachen 52074, Germany., Rebelo A; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Danzi MC; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Grosz BR; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, Sydney, NSW 2139, Australia., Ellis M; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, Sydney, NSW 2139, Australia., Kumar KR; Department of Neurology and Molecular Medicine Laboratory, Sydney Medical School, University of Sydney, Concord Hospital, Sydney, NSW 2139, Australia., Vucic S; Brain and Nerve Research Centre, Concord Hospital, Sydney Medical School, University of Sydney, Sydney, NSW 2139, Australia., Vais H; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Weissenrieder JS; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Lunko O; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Paudel U; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Simpson LC; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Camarena V; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Raposo J; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Saporta M; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Arcia Y; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Xu I; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Feely S; Department of Neurology, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 55242, USA., Record CJ; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N36BG, UK., Blake J; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N36BG, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich NR4 7UY, UK., Reilly MM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N36BG, UK., Scherer SS; Department of Neurology, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Kennerson M; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, Sydney, NSW 2139, Australia.; Department of Neurology and Molecular Medicine Laboratory, Sydney Medical School, University of Sydney, Concord Hospital, Sydney, NSW 2139, Australia., Lee YC; Department of Neurology, Taipei Veterans General Hospital, Taipei 112, Taiwan., Foskett JK; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Shy ME; Department of Neurology, University of Iowa, Carver College of Medicine, Iowa City, IA 55242, USA., Zuchner S; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Source: Brain : a journal of neurology [Brain] 2025 Jan 07; Vol. 148 (1), pp. 227-237.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
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  Data: <searchLink fieldCode="AU" term="%22Beijer+D%22">Beijer D</searchLink>; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Dohrn+MF%22">Dohrn MF</searchLink>; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Department of Neurology, Medical Faculty RWTH Aachen University, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Rebelo+A%22">Rebelo A</searchLink>; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Danzi+MC%22">Danzi MC</searchLink>; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Grosz+BR%22">Grosz BR</searchLink>; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, Sydney, NSW 2139, Australia.<br /><searchLink fieldCode="AU" term="%22Ellis+M%22">Ellis M</searchLink>; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, Sydney, NSW 2139, Australia.<br /><searchLink fieldCode="AU" term="%22Kumar+KR%22">Kumar KR</searchLink>; Department of Neurology and Molecular Medicine Laboratory, Sydney Medical School, University of Sydney, Concord Hospital, Sydney, NSW 2139, Australia.<br /><searchLink fieldCode="AU" term="%22Vucic+S%22">Vucic S</searchLink>; Brain and Nerve Research Centre, Concord Hospital, Sydney Medical School, University of Sydney, Sydney, NSW 2139, Australia.<br /><searchLink fieldCode="AU" term="%22Vais+H%22">Vais H</searchLink>; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Weissenrieder+JS%22">Weissenrieder JS</searchLink>; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Lunko+O%22">Lunko O</searchLink>; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Paudel+U%22">Paudel U</searchLink>; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Simpson+LC%22">Simpson LC</searchLink>; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Camarena+V%22">Camarena V</searchLink>; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Raposo+J%22">Raposo J</searchLink>; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Saporta+M%22">Saporta M</searchLink>; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Arcia+Y%22">Arcia Y</searchLink>; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Xu+I%22">Xu I</searchLink>; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Feely+S%22">Feely S</searchLink>; Department of Neurology, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 55242, USA.<br /><searchLink fieldCode="AU" term="%22Record+CJ%22">Record CJ</searchLink>; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N36BG, UK.<br /><searchLink fieldCode="AU" term="%22Blake+J%22">Blake J</searchLink>; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N36BG, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich NR4 7UY, UK.<br /><searchLink fieldCode="AU" term="%22Reilly+MM%22">Reilly MM</searchLink>; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N36BG, UK.<br /><searchLink fieldCode="AU" term="%22Scherer+SS%22">Scherer SS</searchLink>; Department of Neurology, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Kennerson+M%22">Kennerson M</searchLink>; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, Sydney, NSW 2139, Australia.; Department of Neurology and Molecular Medicine Laboratory, Sydney Medical School, University of Sydney, Concord Hospital, Sydney, NSW 2139, Australia.<br /><searchLink fieldCode="AU" term="%22Lee+YC%22">Lee YC</searchLink>; Department of Neurology, Taipei Veterans General Hospital, Taipei 112, Taiwan.<br /><searchLink fieldCode="AU" term="%22Foskett+JK%22">Foskett JK</searchLink>; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Shy+ME%22">Shy ME</searchLink>; Department of Neurology, University of Iowa, Carver College of Medicine, Iowa City, IA 55242, USA.<br /><searchLink fieldCode="AU" term="%22Zuchner+S%22">Zuchner S</searchLink>; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
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