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Annals of Clinical and Translational Neurology|June 19, 2019
Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpointsAlexander P Murphy, Jasper Morrow, Julia R Dahlqvist, et al.Journal of Clinical Lipidology|August 31, 2018
MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissueEmilie Capel, Camille Vatier, Pascale Cervera, et al.Plos One|March 4, 2014
Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional studyTracey A Willis, Kieren G Hollingsworth, Anna Coombs, et al.Plos One|August 23, 2013
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal studyTracey A Willis, Kieren G Hollingsworth, Anna Coombs, et al.Journal of Neurology, Neurosurgery, and Psychiatry|November 28, 2017
Limb girdle muscular dystrophy due to mutations in POMT2Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, et al.International Journal of Molecular Sciences|August 12, 2022
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient CareMaude Vecten, Emmanuelle Pion, Marc Bartoli, et al.European Journal of Neurology|November 21, 2024
Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort studyLuce Barbat du Closel, Nathalie Bonello-Palot, Emilien Delmont, et al.European Journal of Neurology|June 19, 2023
Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth diseaseLuce Barbat du Closel, Nathalie Bonello-Palot, Yann Péréon, et al.Journal of Neurology|September 27, 2019
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)Andrea Barp, Pascal Laforet, Luca Bello, et al.Journal of Cachexia, Sarcopenia and Muscle|August 15, 2025
High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2Zoe White, Laura Rufibach, Heather Gordish Dressman, et al.Pageof 25