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Orphanet Journal of Rare Diseases|February 19, 2018
Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathyStéphanie Leruez, Christophe Verny, Dominique Bonneau, et al.The International Journal of Biochemistry & Cell Biology|April 25, 2009
OPA1-associated disorders: phenotypes and pathophysiologyPatrizia Amati-Bonneau, Dan Milea, Dominique Bonneau, et al.Arteriosclerosis, Thrombosis, and Vascular Biology|April 22, 2017
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 ActivationEliane Berrou, Frédéric Adam, Marilyne Lebret, et al.BMC Research Notes|December 24, 2011
Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respirationClaire Angebault, Naïg Gueguen, Valérie Desquiret-Dumas, et al.Nature Communications|February 18, 2025
A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndromeRana El Masri, Alberto Iannuzzo, Paul Kuentz, et al.Biochimica Et Biophysica Acta|June 2, 2006
Mitochondrial dynamics and disease, OPA1Aurélien Olichon, Emmanuelle Guillou, Cécile Delettre, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|November 6, 2018
Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletionRahma Felhi, Lamia Sfaihi, Majida Charif, et al.Journal of Proteome Research|February 1, 2019
Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D StudyAdrien Buisset, Philippe Gohier, Stéphanie Leruez, et al.European Journal of Human Genetics : EJHG|December 1, 2011
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?Nathalie Delphin, Sylvain Hanein, Lucas Fares Taie, et al.Human Molecular Genetics|March 24, 2020
Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severityJuan Manuel Chao de la Barca, Mario Fogazza, Michela Rugolo, et al.Pageof 33