Criscuolo, Chiara

Top Publications

Top Publications Authored or Co-Authored by "Criscuolo, Chiara"

• 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
• Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

  Human Mutation, Volume 30, No. 3, Year 2009, Citations 69
• Spastic paraplegia with thin corpus callosum: Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

  Neurogenetics, Volume 7, No. 3, Year 2006, Citations 40