Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
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| Title: | Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy. |
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| Authors: | Cutrupi AN; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia., Narayanan RK; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia., Perez-Siles G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia., Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia., Lai K; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Ancestry and Health Genomics Laboratory, Charles Perkins Centre, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia., Boyling A; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia., Lin RCY; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.; Centre for Infectious Diseases and Microbiology, Westmead Institute for Medical Research, Sydney, NSW 2145, Australia., Neumann B; Monash Biomedicine Discovery Institute and Department of Anatomy and Developmental Biology, Monash University, Melbourne, VIC 3800, Australia., Mao D; Institute for Integrated Cell-Material Sciences and Institute for Chemical Research, Kyoto University, Uji 611-0011, Japan., Uesugi M; Institute for Integrated Cell-Material Sciences and Institute for Chemical Research, Kyoto University, Uji 611-0011, Japan., Nicholson GA; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW 2139, Australia., Vucic S; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.; Brain and Nerve Research Centre, Concord Repatriation General Hospital, Sydney, NSW 2139, Australia., Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW 2139, Australia. |
| Source: | Brain : a journal of neurology [Brain] 2023 Mar 01; Vol. 146 (3), pp. 880-897. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 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/awac424 |
