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TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.

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Title: TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Authors: Kosmanopoulos GP; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Donohue JK; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Hoke M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Thomas S; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Peyton MA; Department of Neurology, Mass General Brigham, Boston, MA 02114, USA., Vo L; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Crawford TO; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Sadjadi R; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY 14627, USA., Yum SW; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Scherer SS; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Pareyson D; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Pisciotta C; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Walk D; Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA., Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA., Sumner CJ; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., McCray BA; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Corporate Authors: Inherited Neuropathies Consortium - Rare Disease Clinical Research Network
Source: Brain : a journal of neurology [Brain] 2025 Jan 07; Vol. 148 (1), pp. 238-251.
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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  Data: TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
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  Data: <searchLink fieldCode="AU" term="%22Kosmanopoulos+GP%22">Kosmanopoulos GP</searchLink>; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.<br /><searchLink fieldCode="AU" term="%22Donohue+JK%22">Donohue JK</searchLink>; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Hoke+M%22">Hoke M</searchLink>; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Thomas+S%22">Thomas S</searchLink>; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Peyton+MA%22">Peyton MA</searchLink>; Department of Neurology, Mass General Brigham, Boston, MA 02114, USA.<br /><searchLink fieldCode="AU" term="%22Vo+L%22">Vo L</searchLink>; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.<br /><searchLink fieldCode="AU" term="%22Crawford+TO%22">Crawford TO</searchLink>; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Sadjadi+R%22">Sadjadi R</searchLink>; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.<br /><searchLink fieldCode="AU" term="%22Herrmann+DN%22">Herrmann DN</searchLink>; Department of Neurology, University of Rochester, Rochester, NY 14627, USA.<br /><searchLink fieldCode="AU" term="%22Yum+SW%22">Yum SW</searchLink>; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Reilly+MM%22">Reilly MM</searchLink>; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Scherer+SS%22">Scherer SS</searchLink>; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, 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="%22Lewis+RA%22">Lewis RA</searchLink>; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.<br /><searchLink fieldCode="AU" term="%22Pareyson+D%22">Pareyson D</searchLink>; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Pisciotta+C%22">Pisciotta C</searchLink>; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Walk+D%22">Walk D</searchLink>; Department of Neurology, University of Minnesota, Minneapolis, MN 55455, 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="%22Sumner+CJ%22">Sumner CJ</searchLink>; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22McCray+BA%22">McCray BA</searchLink>; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
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  Data: <searchLink fieldCode="CA" term="%22Inherited+Neuropathies+Consortium+-+Rare+Disease+Clinical+Research+Network%22">Inherited Neuropathies Consortium - Rare Disease Clinical Research Network</searchLink>
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