Filla, Alessandro

Top Publications

Top Publications Authored or Co-Authored by "Filla, Alessandro"

• International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome

  Journal of the Neurological Sciences, Volume 145, No. 2, Year 1997, Citations 1175
• Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

  Nature Genetics, Volume 39, No. 3, Year 2007, Citations 309
• 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