Desquiret-Dumas, Valérie

Top Publications

Top Publications Authored or Co-Authored by "Desquiret-Dumas, Valérie"

• Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

  Brain Communications, Volume 3, No. 2, Article fcab063, Year 2021, Citations 37
• Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

  Neurology: Genetics, Volume 6, No. 3, Article e428, Year 2020, Citations 28
• Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant

  American Journal of Medical Genetics, Part A, Volume 167, No. 10, Year 2015, Citations 20
• Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment

  Bioscience Reports, Volume 42, No. 9, Article BSR20220194, Year 2022, Citations 17
• Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

  Molecular Biology Reports, Volume 47, No. 5, Year 2020, Citations 16