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Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

scholarly article by Céline Bris et al published 2018 in Frontiers in Genetics

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

artículo científico publicado en 2019

First characterization of LHON pedigrees in North Africa

artículo científico publicado en 2020

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

artículo científico publicado en 2020

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

artículo científico publicado en 2020

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

artículo científico publicado en 2017

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 depletion

artículo científico publicado en 2018

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

scientific article published on 23 August 2015

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress

artículo científico publicado en 2016

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