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Page 1
Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.
Sadjadi R, Picher-Martel V, Morrow JM, Thedens D, DiCamillo PA, McCray BA, Pareyson D, Herrmann DN, Reilly MM, Li J, Castro D, Shy ME; Inherited Neuropathy Consortium. Sadjadi R, et al. Among authors: mccray ba. Neurology. 2024 Sep 10;103(5):e209763. doi: 10.1212/WNL.0000000000209763. Epub 2024 Aug 12. Neurology. 2024. PMID: 39133880
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: mccray ba. Brain. 2024 Jul 18:awae243. doi: 10.1093/brain/awae243. Online ahead of print. Brain. 2024. PMID: 39021275
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. Among authors: mccray ba. Brain. 2024 Jun 25:awae201. doi: 10.1093/brain/awae201. Online ahead of print. Brain. 2024. PMID: 38917025
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice.
Sullivan JM, Bagnell AM, Alevy J, Avila EM, Mihaljević L, Saavedra-Rivera PC, Kong L, Huh JS, McCray BA, Aisenberg WH, Zuberi AR, Bogdanik L, Lutz CM, Qiu Z, Quinlan KA, Searson PC, Sumner CJ. Sullivan JM, et al. Among authors: mccray ba. Sci Transl Med. 2024 May 22;16(748):eadk1358. doi: 10.1126/scitranslmed.adk1358. Epub 2024 May 22. Sci Transl Med. 2024. PMID: 38776392 Free PMC article.
Crosstalk between regulatory elements in disordered TRPV4 N-terminus modulates lipid-dependent channel activity.
Goretzki B, Wiedemann C, McCray BA, Schäfer SL, Jansen J, Tebbe F, Mitrovic SA, Nöth J, Cabezudo AC, Donohue JK, Jeffries CM, Steinchen W, Stengel F, Sumner CJ, Hummer G, Hellmich UA. Goretzki B, et al. Among authors: mccray ba. Nat Commun. 2023 Jul 13;14(1):4165. doi: 10.1038/s41467-023-39808-4. Nat Commun. 2023. PMID: 37443299 Free PMC article.
26 results