Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 31 publications
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.
Journal: Communications biology
Published: September 08, 2022
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
Journal: Orphanet journal of rare diseases
Published: April 21, 2020
Results of an open label feasibility study of sodium valproate in people with McArdle disease.
Journal: Neuromuscular disorders : NMD
Published: January 20, 2020
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.
Journal: The Journal of clinical investigation
Published: December 30, 2019
Progressive exercise training improves maximal aerobic capacity in individuals with well-healed burn injuries.
Journal: American journal of physiology. Regulatory, integrative and comparative physiology
Published: August 22, 2019
No effect of triheptanoin on exercise performance in McArdle disease.
Journal: Annals of clinical and translational neurology
Published: May 09, 2019
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial.
Journal: Neurology
Published: February 19, 2019
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.
Journal: Neurology
Published: January 29, 2018
Acute loss of iron-sulfur clusters results in metabolic reprogramming and generation of lipid droplets in mammalian cells.
Journal: The Journal of biological chemistry
Published: January 12, 2018
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
Journal: Annals of neurology
Published: August 12, 2017
Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: July 19, 2017
Last Updated: 09/26/2026