Associated Papers
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy.
Seo Y et al.
Frontiers in Neurology, 2022
Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I.
Formosa LE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate.
D'Angelo L et al.
Cell Reports, 2021
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Charif M et al.
Frontiers in Neurology, 2021
Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy.
Li JK et al.
Translational Vision Science & Technology, 2020
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness.
La Morgia C et al.
Neurology. Genetics, 2019
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.
Kloth K et al.
Bmc Medical Genetics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Mitochondrial disorders of the retinal ganglion cells and the optic nerve.
Finsterer J et al.
Mitochondrion, 2018
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
A comprehensive strategy for exome-based preconception carrier screening.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Charoute H et al.
Human Mutation, 2015
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.
Hanein S et al.
Biochimica Et Biophysica Acta, 2013
Genetic and phenotypic variability of optic neuropathies.
Neuhann T et al.
Expert Review of Neurotherapeutics, 2013
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.
Désir J et al.
Molecular Vision, 2012
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.
Meyer E et al.
Molecular Vision, 2010
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
Hanein S et al.
American Journal of Human Genetics, 2009