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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. Neurology. 2024 Sep 10;103(5):e209763. doi: 10.1212/WNL.0000000000209763. Epub 2024 Aug 12. Neurology. 2024. PMID: 39133880
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