Institut Des Neurosciences de Montpellier

Top Publications

Top Publications Authored or Co-Authored in "Institut Des Neurosciences de Montpellier"

• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

  Neuron, Volume 97, No. 6, Year 2018, Citations 398
• Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

  Brain, Volume 140, No. 10, Year 2017, Citations 92
• Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

  American Journal of Human Genetics, Volume 99, No. 3, Year 2016, Citations 75
• Sex differences in dementia risk and risk factors: Individual-participant data analysis using 21 cohorts across six continents from the COSMIC consortium

  Alzheimer's and Dementia, Volume 19, No. 8, Year 2023, Citations 58