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Of rAAV and Men: From Genetic Neuromuscular Disorder Efficacy and Toxicity Preclinical Studies to Clinical Trials and Back
Buscara L, Gross DA, Daniele N
Journal of personalized medicine, 2020, 10, 4, p E258
Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies
Nicolas HA, Bertrand AT, Labib S, et al.
Cells, 2020, 9, 11, p e2388
Translating Molecular Technologies into Routine Newborn Screening Practice
Furnier SM, Durkin MS, Baker MW
International journal of neonatal screening, 2020, 6, 4, p E80
Comparison of Serum Pharmacodynamic Biomarkers in Prednisone-Versus Deflazacort-Treated Duchenne Muscular Dystrophy Boys
Tawalbeh S, Samsel A, Gordish-Dressman H, et al.
Journal of personalized medicine, 2020, 10, 4, p e164
Need for NAD(+): Focus on Striated Muscle Laminopathies
Cardoso D, Muchir A
Cells, 2020, 9, 10, p e2248
Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells.
Marioli C, Magliocca V, Petrini S, et al.
International Journal of molecular sciences, 2020, 21, 19, p e7402
Duchenne Dilated Cardiomyopathy: Cardiac Management from Prevention to Advanced Cardiovascular Therapies
Adorisio R, Mencarelli E, Cantarutti N, et al.
Journal of clinical medicine, 2020, 9, 10, p e3186
Effects of Mini-Dystrophin on Dystrophin-Deficient, Human Skeletal Muscle-Derived Cells
Meng J, Counsell J, Morgan JE
International Journal of molecular sciences, 2020, 21, 19, p e7168
Impact of Aquatic Exercise on Respiratory Outcomes and Functional Activities in Children with Neuromuscular Disorders: Findings from an Open-Label and Prospective Preliminary Pilot Study
Huguet-Rodriguez M, Arias-Buria JL, Huguet-Rodriguez B, et al.
Brain sciences, 2020, 10, 7, p E458
Learnings from Patient-Report Workshop on Disease Progression in Myotonic Dystrophy
White M
Therapeutic innovation & regulatory science, 2020, 54, 4, p 775
EDMD-Causing Emerin Mutant Myogenic Progenitors Exhibit Impaired Differentiation Using Similar Mechanisms
Iyer A, Holaska JM
Cells, 2020, 9, 6
Emerin Phosphorylation during the Early Phase of the Oxidative Stress Response Influences Emerin-BAF Interaction and BAF Nuclear Localization
Cenni V, Squarzoni S, Loi M, et al.
Cells, 2020, 9, 6
Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review
Samukawa M, Nakamura N, Hirano M, et al.
European neurology, 2020
N-Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient Bla/J Mice
Garcia-Campos P, Baez-Matus X, Jara-Gutierrez C, et al.
International Journal of molecular sciences, 2020, 21, 12
A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases
Rzepnikowska W, Kaminska J, Kabzinska D, et al.
International Journal of molecular sciences, 2020, 21, 12
An Omics View of Emery-Dreifuss Muscular Dystrophy
Vignier N, Muchir A
Journal of personalized medicine, 2020, 10, 2
Differential diagnosis of vacuolar myopathies in the NGS era
Mair D, Biskup S, Kress W, et al.
Brain pathology (Zurich, Switzerland), 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, et al.
Genes, 2020, 11, 5
Enhanced Clearance of Neurotoxic Misfolded Proteins by the Natural Compound Berberine and Its Derivatives
Rusmini P, Cristofani R, Tedesco B, et al.
International Journal of molecular sciences, 2020, 21, 10
Cognitive Deficits in Myopathies
Peristeri E, Aloizou AM, Keramida P, et al.
International Journal of molecular sciences, 2020, 21, 11
Oedematous myositis: a clinical presentation first suggesting dermatomyositis diagnosis
Duchesne M, Leonard-Louis S, Landon-Cardinal O, et al.
Brain pathology (Zurich, Switzerland), 2020
Alteration of the late endocytic pathway in Charcot-Marie-Tooth type 2B disease
Romano R, Rivellini C, De Luca M, et al.
Cellular and molecular life sciences : CMLS, 2020
Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives
Brusa R, Magri F, Bresolin N, et al.
Cellular and molecular life sciences : CMLS, 2020
Antioxidants Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy
Harandi VM, Oliveira BMS, Allamand V, et al.
Antioxidants (Basel, Switzerland), 2020, 9, 3
