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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.
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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  Data: Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
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  Data: <searchLink fieldCode="AU" term="%22Rehbein+T%22">Rehbein T</searchLink>; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.<br /><searchLink fieldCode="AU" term="%22Wu+TT%22">Wu TT</searchLink>; Department of Biostatistics and Computational Biology, University of Rochester, Rochester, NY 14642, USA.<br /><searchLink fieldCode="AU" term="%22Treidler+S%22">Treidler S</searchLink>; Department of Neurology, Stony Brook University, Stony Brook, NY 11790, USA.<br /><searchLink fieldCode="AU" term="%22Pareyson+D%22">Pareyson D</searchLink>; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Lewis+R%22">Lewis R</searchLink>; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.<br /><searchLink fieldCode="AU" term="%22Yum+SW%22">Yum SW</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22McCray+BA%22">McCray BA</searchLink>; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.<br /><searchLink fieldCode="AU" term="%22Ramchandren+S%22">Ramchandren S</searchLink>; Clinical Development Department - Neuroscience, The Janssen Pharmaceutical Companies of Johnson & Johnson, Titusville, NJ 08560, USA.<br /><searchLink fieldCode="AU" term="%22Burns+J%22">Burns J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Li+J%22">Li J</searchLink>; Department of Neurology, Houston Methodist Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Finkel+RS%22">Finkel RS</searchLink>; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.<br /><searchLink fieldCode="AU" term="%22Scherer+SS%22">Scherer SS</searchLink>; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Zuchner+S%22">Zuchner S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Shy+ME%22">Shy ME</searchLink>; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.<br /><searchLink fieldCode="AU" term="%22Reilly+MM%22">Reilly MM</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Herrmann+DN%22">Herrmann DN</searchLink>; Department of Neurology, University of Rochester, Rochester, NY 14642, USA.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0372537 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2156 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200068950%22">00068950 </searchLink><i>NLM ISO Abbreviation: </i>Brain <i>Subsets: </i>MEDLINE
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        Value: 10.1093/brain/awad095
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              Text: 2023 Sep 01
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