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Charcot-Marie-Tooth disease

Efficient data labeling strategies for automated muscle segmentation in lower leg MRIs of Charcot-Marie-Tooth disease patients

Seung-Ah Lee, Hyun Su Kim, [ ... ], Jae-Hun Kim

Prevalence and incidence of neuromuscular conditions in the UK between 2000 and 2019: A retrospective study using primary care data

Iain M. Carey, Emma Banchoff, [ ... ], Derek G. Cook

Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study

Rachel A. Kennedy, Kate Carroll, [ ... ], Jennifer L. McGinley

Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR

Anna Minaidou, Paschalis Nicolaou, Kyproula Christodoulou

Characterizing postural oscillation in children and adolescents with hereditary sensorimotor neuropathy

Cyntia Rogean de Jesus Alves de Baptista, Adriana Nascimento-Elias, [ ... ], Ana Claudia Mattiello-Sverzut

Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients

Beatriz Soldevilla, Carmen Cuevas-Martín, [ ... ], José M. Cuezva

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients

Wenjia Wang, Mickaël Guedj, [ ... ], Shahram Attarian

Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease

Yi-Chu Liao, Yo-Tsen Liu, [ ... ], Yi-Chung Lee

Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish

Anna L. Chapman, Ellen J. Bennett, [ ... ], Andrew J. Grierson

Accumulation of Endogenous LITAF in Aggresomes

Heather E. Eaton, Julie Metcalf, Andressa Ferreira Lacerda, Craig R. Brunetti

The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

Kon-Ping Lin, Bing-Wen Soong, [ ... ], Yi-Chung Lee

Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy

Olga S. Koutsopoulos, Catherine Koch, [ ... ], Jocelyn Laporte

Rab7 Mutants Associated with Charcot-Marie-Tooth Disease Exhibit Enhanced NGF-Stimulated Signaling

Soumik BasuRay, Sanchita Mukherjee, [ ... ], Angela Wandinger-Ness

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