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Combined clinical, structural, and cellular studies discriminate pathogenic and benign TRPV4 variants.
Berth, Sarah H; Vo, Linh; Kwon, Do Hoon; Grider, Tiffany; Damayanti, Yasmine S; Kosmanopoulos, Gage; Fox, Andrew; Lau, Alexander R; Carr, Patrice; Donohue, Jack K; Hoke, Maya; Thomas, Simone; Karim, Chafic; Fay, Alex J; Meltzer, Ethan; Crawford, Thomas O; Gaudet, Rachelle; Shy, Michael E; Hellmich, Ute A; Lee, Seok-Yong; Sumner, Charlotte J; McCray, Brett A.
Affiliation
  • Berth SH; Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.
  • Vo L; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
  • Kwon DH; Department of Biochemistry, Duke University School of Medicine, Durham, NC 27710, USA.
  • Grider T; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
  • Damayanti YS; Friedrich Schiller University Jena, Faculty of Chemistry and Earth Sciences, Institute of Organic Chemistry and Macromolecular Chemistry, Jena, Germany.
  • Kosmanopoulos G; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
  • Fox A; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Lau AR; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Carr P; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, 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.
  • Karim C; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Fay AJ; Department of Neurology, UCSF Benioff Children's Hospital, San Francisco, CA 94158, USA.
  • Meltzer E; Department of Neurology, Dell Medical School, University of Texas at Austin, Austin, TX 78712, USA.
  • Crawford TO; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Gaudet R; Department of Molecular and Cellular Biology, Harvard University, Boston, MA 02138, USA.
  • Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
  • Hellmich UA; Friedrich Schiller University Jena, Faculty of Chemistry and Earth Sciences, Institute of Organic Chemistry and Macromolecular Chemistry, Jena, Germany.
  • Lee SY; Cluster of Excellence Balance of the Microverse, Friedrich Schiller University Jena, Jena, Germany.
  • Sumner CJ; Center for Biomolecular Magnetic Resonance (BMRZ), Goethe University, Frankfurt, Germany.
  • McCray BA; Department of Biochemistry, Duke University School of Medicine, Durham, NC 27710, USA.
Brain ; 2024 Jul 18.
Article in En | MEDLINE | ID: mdl-39021275
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Brain Year: 2024 Type: Article Affiliation country: United States
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Brain Year: 2024 Type: Article Affiliation country: United States