Hannequin, Didier

Top Publications

Top Publications Authored or Co-Authored by "Hannequin, Didier"

• Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

  Brain, Volume 131, No. 3, Year 2008, Citations 213
• 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
• Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy

  European Journal of Human Genetics, Volume 24, No. 1, Year 2016, Citations 28