Showing results (41-50 of 58) with videos related to
Sort By:
Pageof 6
Journal of the American Heart Association|January 15, 2013
OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instabilityLe Chen, Tingting Liu, Alice Tran, et al.The British Journal of Ophthalmology|March 19, 2017
Childhood-onset Leber hereditary optic neuropathyAnna Majander, Richard Bowman, Joanna Poulton, et al.Investigative Ophthalmology & Visual Science|May 31, 2002
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophyDawn L Thiselton, Christiane Alexander, Jan-Willem Taanman, et al.Neurogenetics|August 28, 2014
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathyPanagiotis I Sergouniotis, Rahat Perveen, Dawn L Thiselton, et al.Journal of Inherited Metabolic Disease|May 11, 2022
Research priorities for mitochondrial disorders: Current landscape and patient and professional viewsRhys H Thomas, Amy Hunter, Lyndsey Butterworth, et al.Human Molecular Genetics|April 24, 2016
Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrityAlice E Navein, Esther J Cooke, Jennifer R Davies, et al.Human Genetics|January 26, 2002
A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 geneTin Aung, Louise Ocaka, Neil D Ebenezer, et al.Brain : a Journal of Neurology|January 29, 2008
A missense mutation in the murine Opa3 gene models human Costeff syndromeVanessa J Davies, Kate A Powell, Kathryn E White, et al.BMJ Open|July 25, 2014
The Sight Loss and Vision Priority Setting Partnership (SLV-PSP): overview and results of the research prioritisation survey processFiona Rowe, Richard Wormald, Richard Cable, et al.Frontiers in Cell and Developmental Biology|October 5, 2018
Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP MutationAlan Diot, Thomas Agnew, Jeremy Sanderson, et al.Pageof 6