Cazeneuve, Cećile

Top Publications

Top Publications Authored or Co-Authored by "Cazeneuve, Cećile"

• Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

  Brain, Volume 132, No. 7, Year 2009, Citations 132
• 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
• REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

  Human Mutation, Volume 32, No. 10, Year 2011, Citations 85
• Familial Mediterranean fever in Lebanon: Mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694l mutations

  European Journal of Human Genetics, Volume 9, No. 1, Year 2001, Citations 78