Darios, Frédéric D.

Top Publications

Top Publications Authored or Co-Authored by "Darios, Frédéric D."

• Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

  American Journal of Human Genetics, Volume 91, No. 6, Year 2012, Citations 177
• Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

  American Journal of Human Genetics, Volume 93, No. 1, Year 2013, Citations 144
• Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

  JAMA Neurology, Volume 75, No. 5, Year 2018, Citations 97
• Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

  Genetics in Medicine, Volume 22, No. 11, Year 2020, Citations 89
• Implication of folate deficiency in CYP2U1 loss of function

  Journal of Experimental Medicine, Volume 218, No. 11, Article e20210846, Year 2021, Citations 48