Myopathies

Myopathies are genetic or acquired disorders of skeletal muscle that lead to varying degrees of weakness, atrophy, and exercise intolerance. Here are the latest discoveries pertaining to this disease.

May 20, 2020
Open Access

Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy

The Journal of Clinical Investigation
Rocio BengoecheaConrad C Weihl
May 20, 2020
Open Access

EMQN best practice guidelines for genetic testing in dystrophinopathies

European Journal of Human Genetics : EJHG
Carl FratterAlessandra Ferlini
May 31, 2020

Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing

International Journal of Cardiology
May Ling MahKan N Hor
May 18, 2020
Case Report

Parkinsonism phenotype in a family with adult onset Alexander disease and a novel mutation of GFAP

Clinical Neurology and Neurosurgery
D Vázquez-JustesC González-Mingot
May 24, 2020

Mental health delivery and neurogenetics discovery in Africa

The Lancet. Psychiatry
Dan J SteinMonica Uddin
May 23, 2020
Open Access

Intraoperative neurophysiological monitoring during scoliosis surgery in patients with Duchenne muscular dystrophy

European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
S E DulferG Drost
May 26, 2020
Open Access

Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells

Journal of Visualized Experiments : JoVE
Hotake TakizawaYoshitsugu Aoki
May 20, 2020

Comparison of brain atrophy in multiple sclerosis patients treated with first generation disease modifying therapy without clinical relapse

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
Hiroki MasudaSatoshi Kuwabara
May 24, 2020
ReviewOpen Access

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

International Journal of Molecular Sciences
Giacomo GaroneFrancesco Nicita
May 29, 2020

Long-Term Efficacy of AAV9-U7snRNA-Mediated Exon 51 Skipping in mdx52 Mice

Molecular Therapy. Methods & Clinical Development
Philippine AupyAurélie Goyenvalle
May 30, 2020

Long-Term Outcome of LVAD in Duchenne Population with End Stage Cardiomyopathy

The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation
R AdorisioA Amodeo

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