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Journal of the Peripheral Nervous System : JPNS|June 4, 2026
COQ7-Related Neuropathy: Two New Cases and Review of the LiteratureJulian Theuriet, Shams Ribault, Fanny Fontaine, et al.Journal of Cellular Physiology|December 15, 2006
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesisAurélien Olichon, Thomas Landes, Laetitia Arnauné-Pelloquin, et al.Progress in Neurobiology|September 27, 2019
Metabolomics reveals highly regional specificity of cerebral sexual dimorphism in miceFloris Chabrun, Xavier Dieu, Guillaume Rousseau, et al.Pigment Cell & Melanoma Research|August 31, 2023
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinismVincent Michaud, Angèle Sequeira, Elina Mercier, et al.European Journal of Medical Genetics|March 24, 2025
Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case reportBertille Bonniaud, Maxime Luu, Coline Cormier, et al.Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (GMS)|April 26, 2025
Reduced AKT activation accompanied with high TP53 expression is implicated in the impaired hematogenesis in Ziegler-Huang syndrome and the Znt7 null mice partially recapitulates the human disease linked to pancytopeniaLiping Huang, Steven T Nguyen, Zhongyue Yang, et al.Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 6, 2016
The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular modelSamuel Frey, Guillaume Geffroy, Valerie Desquiret-Dumas, et al.The Journal of Biological Chemistry|November 2, 2013
Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cellsValérie Desquiret-Dumas, Naïg Gueguen, Géraldine Leman, et al.Neurogenetics|December 18, 2008
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)Julien Cassereau, Arnaud Chevrollier, Naïg Gueguen, et al.Orphanet Journal of Rare Diseases|June 30, 2017
Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplexJennifer Brun, Christine Chiaverini, Caroline Devos, et al.Pageof 33