Manès, Gaël

Top Publications

Top Publications Authored or Co-Authored by "Manès, Gaël"

• Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies

  American Journal of Human Genetics, Volume 97, No. 5, Year 2015, Citations 56
• Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

  Journal of Clinical Investigation, Volume 130, No. 1, Year 2020, Citations 39
• Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

  Human Molecular Genetics, Volume 24, No. 14, Year 2015, Citations 39
• AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

  Neurology: Genetics, Volume 4, No. 1, Article e217, Year 2018, Citations 25
• Identification of inherited retinal disease-associated genetic variants in 11 candidate genes

  Genes, Volume 9, No. 1, Article 21, Year 2018, Citations 17