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The International Journal of Biochemistry & Cell Biology|May 31, 2015
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiencyGéraldine Leman, Naïg Gueguen, Valérie Desquiret-Dumas, et al.Human Mutation|March 26, 2009
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutationsMarc Ferré, Dominique Bonneau, Dan Milea, et al.European Journal of Medical Genetics|June 4, 2011
Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counsellingAli Houeijeh, Joris Andrieux, Pascale Saugier-Veber, et al.Investigative Ophthalmology & Visual Science|June 12, 2019
Nicotinamide Deficiency in Primary Open-Angle GlaucomaJudith Kouassi Nzoughet, Juan Manuel Chao de la Barca, Khadidja Guehlouz, et al.European Journal of Radiology|July 9, 2023
Intramuscular capillary-type hemangioma: Diagnosis, treatment, and outcomes. A French multicentric retrospective study of 66 casesJordan Orly, Annouk Bisdorff, Antoine Fraissenon, et al.Ophthalmology Science|July 28, 2026
Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 DeletionAymane Bouzidi, Patrizia Amati-Bonneau, Valérie Desquiret-Dumas, et al.Annals of Neurology|March 25, 2008
Reversible optic neuropathy with OPA1 exon 5b mutationKaren Cornille, Dan Milea, Patrizia Amati-Bonneau, et al.Journal of Medical Genetics|January 22, 2013
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndromeVirginie Bubien, Françoise Bonnet, Veronique Brouste, et al.Scientific Reports|August 3, 2018
The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate DeficiencyCinzia Bocca, Mariame Selma Kane, Charlotte Veyrat-Durebex, et al.European Journal of Medical Genetics|August 30, 2011
Systematic search for neutropenia should be part of the first screening in patients with poikilodermaJuliette Piard, Muriel Holder-Espinasse, Bernard Aral, et al.Pageof 33