Regional body composition and functional impairment in patients with Myotonic Dystrophy
Pruna L, Chatelin J, Pascal-Vigneron V, Kaminsky P.
Muscle nerve 2011. 44(4) : 503-8.
In this study, fat-free mass index (FFMI), fat mass index (FMI) and functional impairment were examined in 48 patients with myotonic dystrophy type 1 subjects and anthropometrically matched control pairs.
Keywords: dual-energy X-ray absorptiometry, fat tissue, lean tissue, muscular function, myotonic dystrophy
Articles dans les revues scientifiques
Adult MTM1-related myopathy carriers: Classification based on deep phenotyping
Cocanougher BT, Flynn L, Yun P, Jain M, Waite M, Vasavada R, Wittenbach JD, de Chastonay S, Chhibber S, Innes AM, MacLaren L, Mozaffar T, Arai AE, Donkervoort S, Bönnemann CG, Foley AR. Neurology. 2019. 93 (16), e1535-e1542. Results of a cohort study performed at the...
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study.
LoRusso S, Johnson NE, McDermott MP, Eichinger K, Butterfield RJ, Carraro E, Higgs K, Lewis L, Mul K, Sacconi S, Sansone VA, Shieh P, van Engelen B, Wagner K, Wang L, Statland JM, Tawil R; ReSolve Investigators and the FSHD CTRN. BMC Neurol. 2019. 10;19(1):224. The...
Association Between Health-Related Quality of Life and Motor Function in Ambulant and Nonambulant Duchenne Muscular Dystrophy Patients
Gocheva V, Schmidt S, Orsini AL, Hafner P, Schaedelin S, Rueedi N, Weber P, Fischer D. J Child Neurol. 2019. 34(14), 873-885. This cross-sectional study showed several moderate to high correlations between different aspects of the generic and disease-specific...
Cross-cultural Adaptation and Multi-centric Validation of the Motor Function Measure Chinese Version (MFM-32-CN) for Patients with Neuromuscular Diseases
Huang M, Cao J, Sun J, Li W, Qin L, Li H, Zhai C, Huang W, Gui T, Zhang K, Wang J, Vuillerot C, Wang Y, Dai M. Dev Neurorehabil. 2019. doi: 10.1080/17518423.2019.1642413. Validation study of a Chinese version of the MFM-32, the MFM-32-CN. PubMed link Keywords: Chinese...
Motor Function Performance in Individuals with RYR1-Related Myopathies
Witherspoon JW, Vuillerot C, Vasavada RP, Waite MR, Shelton M, Chrismer IC, Jain MS, Meilleur KG. Muscle Nerve. 2019. 60(1),80-87. Natural history study of 34 individuals with RYR1- related myopathy (RYR1-RM) during 6 months. Motor deficits according to MFM-32 were...
X-linked myotubular myopathy: A prospective international natural history study
Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S1, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L....