Associated Papers
Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants.
Penon-Portmann M et al.
American Journal of Medical Genetics. Part A, 2025
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
Neuro-Ophthalmic Phenotype of OPA3.
Huna-Baron R et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2022
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G et al.
Molecular Genetics & Genomic Medicine, 2020
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.
Horga A et al.
Neurology. Genetics, 2019
Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach.
Blumkin L et al.
Neuropediatrics, 2018
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.
Kessi M et al.
Bmc Genetics, 2018
Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.
Carmi N et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
Costeff syndrome: clinical features and natural history.
Yahalom G et al.
Journal of Neurology, 2014
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.
Lam C et al.
Molecular Genetics and Metabolism Reports, 2014
Mitochondrial fusion proteins and human diseases.
Ranieri M et al.
Neurology Research International, 2013
Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III.
Powell KA et al.
Investigative Ophthalmology & Visual Science, 2011
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
Huizing M et al.
Molecular Genetics and Metabolism, 2010
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.
Neas K et al.
Journal of Inherited Metabolic Disease, 2005
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
Reynier P et al.
Journal of Medical Genetics, 2004
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.
Kleta R et al.
Molecular Genetics and Metabolism, 2002