Bomont, Pascale

Top Publications

Top Publications Authored or Co-Authored by "Bomont, Pascale"

• Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

  Nature Genetics, Volume 36, No. 3, Year 2004, Citations 473
• The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

  Nature Genetics, Volume 26, No. 3, Year 2000, Citations 391
• 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
• Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies

  American Journal of Human Genetics, Volume 97, No. 5, Year 2015, Citations 56
• Giant axonal neuropathy locus refinement to a < 590 kb critical interval

  European Journal of Human Genetics, Volume 8, No. 7, Year 2000, Citations 24