Guéguen, Naïg

Top Publications

Top Publications Authored or Co-Authored by "Guéguen, Naïg"

• Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies

  American Journal of Human Genetics, Volume 97, No. 5, Year 2015, Citations 56
• 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
• Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration

  Cell Death Discovery, Volume 2, No. 1, Article 16017, Year 2016, 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