Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
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| Title: | Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy. |
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| Authors: | Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia., Stevanovski I; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Negri S; Istituiti Clinici Scientifici Maugeri IRCCS, Environmental Research Center, Pavia, Italy., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia.; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia., Barnes S; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.; Department of Neurology, Concord Repatriation General Hospital, Concord, New South Wales, Australia.; Faculty of Medicine, University of Notre Dame, Sydney, New South Wales, Australia.; Department of Neurology, Hornsby Ku-Ring-Gai Hospital, Sydney, New South Wales, Australia., Reddel S; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.; Department of Neurology, Concord Repatriation General Hospital, Concord, New South Wales, Australia., Vucic S; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.; Department of Neurology, Concord Repatriation General Hospital, Concord, New South Wales, Australia., Nicholson GA; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.; Department of Neurology, Concord Repatriation General Hospital, Concord, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, New South Wales, Australia., Cortese A; MRC Center for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Kumar KR; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.; Department of Neurology, Concord Repatriation General Hospital, Concord, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, New South Wales, Australia., Deveson IW; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia., Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia.; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, New South Wales, Australia. |
| Source: | Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2022 Jun; Vol. 27 (2), pp. 120-126. Date of Electronic Publication: 2022 Mar 05. |
| Publication Type: | Case Reports; Research Support, Non-U.S. Gov't; Journal Article |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1529-8027 |
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| DOI: | 10.1111/jns.12485 |
