Nusinersen in spinal muscular atrophy type 1 patients older than 7 months: A cohort study
Aragon-Gawinska K, Seferian AM, Daron A, Gargaun E, Vuillerot C, Cances C, Ropars J, Chouchane M, Cuppen I, Hughes I, Illingworth M, Marini-Bettolo C, Rambaud J, Taytard J, Annoussamy M, Scoto M, Gidaro T, Servais L.
Neurology. 2018. 91(14), e1312-e1318.
The study evaluate the safety and clinical efficacy of Nusinersen in patients with Spinal Muscular Atrophy Type 1 (SMA1) older than 7 months.
Motor function was assessed with the modified Hammersmith Infant Neurologic Examination Part 2 (HINE-2) and scales adjusted to patient age, such as MFM-20 or MFM-32.
Articles in scientific journals
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....
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Nagy S, Schmidt S, Hafner P, Klein A, Rubino-Nacht D, Gocheva V, Bieri O, Vuillerot C, Bonati U, Fischer D. J Vis Exp. 2019. (143), e58784. Discussion in a video format on outcome measures, including MFM, used in the trial "Treatment with L-citrulline and metformin in...
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