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TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Kosmanopoulos G, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathy Consortium; McCray BA. Kosmanopoulos G, et al. Brain. 2024 Jun 25:awae201. doi: 10.1093/brain/awae201. Online ahead of print. Brain. 2024. PMID: 38917025
Combined clinical, structural, and cellular studies discriminate pathogenic and benign TRPV4 variants.
Berth SH, Vo L, Kwon DH, Grider T, Damayanti YS, Kosmanopoulos G, Fox A, Lau AR, Carr P, Donohue JK, Hoke M, Thomas S, Karim C, Fay AJ, Meltzer E, Crawford TO, Gaudet R, Shy ME, Hellmich UA, Lee SY, Sumner CJ, McCray BA. Berth SH, et al. Among authors: kosmanopoulos g. Brain. 2024 Jul 18:awae243. doi: 10.1093/brain/awae243. Online ahead of print. Brain. 2024. PMID: 39021275