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. |
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| 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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| ISSN: | 1460-2156 |
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| DOI: | 10.1093/brain/awae206 |
