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Neurology. Genetics|August 19, 2016
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsySteven A Hardy, Emma L Blakely, Andrew I Purvis, et al.Journal of Neurology|May 6, 2011
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 genePeter Reilich, Rita Horvath, Sabine Krause, et al.Annual Review of Statistics and Its Application|May 14, 2026
Statistical Methods in Aging Research: Improving Current Practices and Embracing Emerging ApproachesDeependra K Thapa, Erik S Parker, Mounika Kandukuri, et al.Human Molecular Genetics|October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathyEwen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.Gut|January 21, 2006
Lack of association of MYO9B genetic variants with coeliac disease in a British cohortK A Hunt, A J Monsuur, W L McArdle, et al.Nature Genetics|February 2, 2000
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fateN B Haider, S G Jacobson, A V Cideciyan, et al.Journal of Inherited Metabolic Disease|February 8, 2020
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensusMaaike C De Vries, David A Brown, Mitchell E Allen, et al.Kidney International|September 11, 2014
The urinary proteome and metabonome differ from normal in adults with mitochondrial diseaseAndrew M Hall, Annalisa Vilasi, Isabel Garcia-Perez, et al.JIMD Reports|July 21, 2020
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletionAna Cotta, Charlotte L Alston, Sidney Baptista-Junior, et al.International Journal of Cardiology|June 8, 2013
Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial diseaseMatthew G D Bates, Jane H Newman, Djordje G Jakovljevic, et al.Pageof 36