Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
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| Title: | Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history. |
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| Authors: | Rehbein T; Department of Neurology, University of Rochester, Rochester, NY 14642, USA., Wu TT; Department of Biostatistics and Computational Biology, University of Rochester, Rochester, NY 14642, USA., Treidler S; Department of Neurology, Stony Brook University, Stony Brook, NY 11790, USA., Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Lewis R; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Yum SW; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McCray BA; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Ramchandren S; Clinical Development Department - Neuroscience, The Janssen Pharmaceutical Companies of Johnson & Johnson, Titusville, NJ 08560, USA., Burns J; Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, University of Sydney School of Health Sciences, Sydney Children's Hospitals Network, Sydney 2031, Australia., Li J; Department of Neurology, Houston Methodist Hospital, Houston, TX 77030, USA., Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Scherer SS; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33101, USA., Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY 14642, USA. |
| Source: | Brain : a journal of neurology [Brain] 2023 Sep 01; Vol. 146 (9), pp. 3826-3835. |
| 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/awad095 |
