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. |
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| 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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| ISSN: | 1460-2156 |
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| DOI: | 10.1093/brain/awae201 |
