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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
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
Safety, feasibility, and efficacy of strengthening exercise in Duchenne muscular dystrophy
Lott DJ, Taivassalo T, Cooke KD, et al.
Muscle & Nerve, 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
Author response: Granulomatosis-associated myositis: High prevalence of sporadic inclusion body myositis
Dieudonne Y, Meyer A
Neurology, 2020, 95, 22, p 1024
Reader response: Granulomatosis-associated myositis: High prevalence of sporadic inclusion body myositis
Liewluck T, Alhammad R
Neurology, 2020, 95, 22, p 1023
Clinical Therapeutic Management of Human Mitochondrial Disorders
Finsterer J
Pediatric neurology, 2020, 113, p 66
Dp71 contribution to the molecular scaffold anchoring aquaporine-4 channels in brain macroglial cells
Belmaati Cherkaoui M, Vacca O, Izabelle C, et al.
Glia, 2020
Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series
Chand DH, Zaidman C, Arya K, et al.
The Journal of pediatrics, 2020
Early Tracheostomy Is Associated With Shorter Ventilation Time and Duration of ICU Stay in Patients With Myasthenic Crisis-A Multicenter Analysis
Angstwurm K, Vidal A, Stetefeld H, et al.
Journal of intensive care medicine, 2020
Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy
Sergott RC, Amorelli GM, Baranello G, et al.
Annals of clinical and translational neurology, 2020
Post-intervention status in patients with refractory myasthenia gravis treated with eculizumab during REGAIN and its open-label extension
Mantegazza R, Wolfe GI, Muppidi S, et al.
Neurology, 2020
Efficacy and safety of rozanolixizumab in moderate-to-severe generalised myasthenia gravis: A phase 2 RCT
Bril V, Benatar M, Andersen H, et al.
Neurology, 2020
Slow oscillation density and amplitude decrease across development in pediatric Duchenne and Becker Muscular Dystrophy
Simon KC, Malerba P, Nakra N, et al.
Sleep, 2020
Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy
Fujise K, Okubo M, Abe T, et al.
The Journal of biological chemistry, 2020
Early experiences of Nusinersen for the Treatment of Spinal Muscular Atrophy: Results from a large survey of patients and caregivers
Chen E, Dixon S, Naik R, et al.
Muscle & Nerve, 2020
"Molecular Mechanisms for the Inflammation-Resolving Actions of Lenabasum"
Burstein S
Molecular pharmacology, 2020
Myelination of peripheral nerves is controlled by PI4KB through regulation of Schwann cell Golgi function
Baba T, Alvarez-Prats A, Kim YJ, et al.
Proceedings of the national Academy of sciences of the United States of America, 2020, 117, 45, p 28102
Very low residual dystrophin quantity is associated with milder dystrophinopathy
de Feraudy Y, Yaou RB, Wahbi K, et al.
Annals of neurology, 2020
Responsiveness and Minimal Clinically Important Difference of the Motor Function Measure in collagen VI-related dystrophies (COL6-RD) and laminin alpha2-related muscular dystrophy (LAMA2-RD)
Le Goff L, Meilleur KG, Norato G, et al.
Archives of physical medicine and rehabilitation, 2020
Skeletal muscle magnetic resonance imaging in Pompe disease
Diaz-Manera J, Walter G, Straub V
Muscle & Nerve, 2020
