Article
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Annals of neurology - 1 Mar 2023
Fridman Vera, Sillau Stefan, Bockhorst Jacob, Smith Kaitlin, Moroni Isabella, Pagliano Emanuela, Pisciotta Chiara, Piscosquito Guiseppe, Laurá Matilde, Muntoni Francesco, Bacon Chelsea, Feely Shawna, Grider Tiffany, Gutmann Laurie, Shy Rosemary, Wilcox Janel, Herrmann David N, Li Jun, Ramchandren Sindhu, Sumner Charlotte J, Lloyd Thomas E, Day John, Siskind Carly E, Yum Sabrina W, Sadjadi Reza, Finkel Richard S, Scherer Steven S, Pareyson Davide, Reilly Mary M, Shy Michael E
Abstract excerpt
OBJECTIVE: The paucity of longitudinal natural history studies in MPZ neuropathy remains a barrier to clinical trials. We have completed a longitudinal natural history study in patients with MPZ neuropathies across 13 sites of the Inherited Neuropathies Consortium. METHODS: Change in Charcot-Marie-Tooth Examination Score (CMTES) and Rasch modified CMTES (CMTES-R) were evaluated using longitudinal regression over...
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