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Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease
Yuan RY, Ye ZL, Zhang XR, et al.
Annals of clinical and translational neurology, 2021, 8, 1, p 266
RNA-targeted drugs for neuromuscular diseases
Ferlini A, Goyenvalle A, Muntoni F
Science (New York, N.Y.), 2021, 371, 6524, p 29
COL6A1 related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenital muscular dystrophy
Brands J, Steffen F, Spennes J, et al.
Muscle & Nerve, 2020
Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis
Dolci C, Sansone VA, Gibelli D, et al.
American journal of medical genetics. Part A, 2020
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Annoussamy M, Seferian AM, Daron A, et al.
Annals of clinical and translational neurology, 2020
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects
Berling É, Laforêt P, Wahbi K, et al.
Journal of inherited metabolic disease, 2020
Myositis-specific and myositis-associated autoantibodies in a large Indian cohort of inflammatory myositis
Gupta L, Naveen R, Gaur P, et al.
Seminars in arthritis and rheumatism, 2020, 51, 1, p 113
Pre-clinical Systemic Delivery of Adeno-Associated Alpha-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy
Griffin DA, Pozsgai ER, Heller KN, et al.
Human gene therapy, 2020
Systemic cell therapy for muscular dystrophies : The ultimate transplantable muscle progenitor cell and current challenges for clinical efficacy
Ausems CRM, van Engelen BGM, van Bokhoven H, et al.
Stem cell reviews and reports, 2020
12-Month progression of motor and functional outcomes in congenital myotonic dystrophy
Quigg KH, Berggren KN, McIntyre M, et al.
Muscle & Nerve, 2020
Human myotube formation is determined by MyoD-Myomixer/Myomaker axis
Zhang H, Wen J, Bigot A, et al.
Science advances, 2020, 6, 51
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding
Sidorina A, Catesini G, Levi Mortera S, et al.
Journal of inherited metabolic disease, 2020
Exosome-mediated improvement in membrane integrity and muscle function in dystrophic mice
Leng L, Dong X, Gao X, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2020
From diagnosis to prognosis: Revisiting the meaning of muscle ISG15 overexpression in juvenile inflammatory myopathies
Hou C, Durrleman C, Periou B, et al.
Arthritis & rheumatology (Hoboken, N.J.), 2020
Systematic review of CMTX1 patients with episodic neurological dysfunction
Tian D, Zhao Y, Zhu R, et al.
Annals of clinical and translational neurology, 2020
Current Clinical Applications of In Vivo Gene Therapy with AAVs
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2020
CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum
Freed AS, Schwarz AC, Brei BK, et al.
American journal of medical genetics. Part A, 2020
Costameric Integrin and Sarcoglycan protein levels are altered in a Drosophila model for Limb Girdle Muscular Dystrophy type 2H
Bawa S, Gameros S, Baumann K, et al.
Molecular biology of the cell, 2020
Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease
Thomas DC, Sharma S, Puri RD, et al.
Clinical biochemistry, 2020
Safety, feasibility, and efficacy of strengthening exercise in Duchenne muscular dystrophy
Lott DJ, Taivassalo T, Cooke KD, et al.
Muscle & Nerve, 2020
Health and economic outcomes of newborn screening for infantile-onset Pompe disease
Richardson JS, Kemper AR, Grosse SD, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease
Gonzalez-Quereda L, Pagola I, Fuentes Prior P, et al.
Annals of clinical and translational neurology, 2020
Pathological features of anti-Mi-2 dermatomyositis
Tanboon J, Inoue M, Hirakawa S, et al.
Neurology, 2020
Study of Tofacitinib In Refractory Dermatomyositis (STIR): An open label pilot study of 10 patients
Paik JJ, Casciola-Rosen L, Shin JY, et al.
Arthritis & rheumatology (Hoboken, N.J.), 2020
Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines
Barcelos I, Shadiack E, Ganetzky RD, et al.
Current opinion in pediatrics, 2020, 32, 6, p 707
