Azulay, Jean Philippe P.

Top Publications

Top Publications Authored or Co-Authored by "Azulay, Jean Philippe P."

• CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

  Brain, Volume 132, No. 6, Year 2009, Citations 104
• 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
• Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

  Neurogenetics, Volume 22, No. 1, Year 2021, Citations 29
• Insulin-like growth factor-1 but not insulin predicts cognitive decline in Huntington's disease

  PLoS ONE, Volume 11, No. 9, Article e0162890, Year 2016, Citations 22