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Neurogenetics|May 16, 2006
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni Stevanin, Giorgia Montagna, Hamid Azzedine, et al.American Journal of Human Genetics|April 2, 2021
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genesCarolina Courage, Karen L Oliver, Eon Joo Park, et al.Journal of Neurology|June 17, 2024
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohortSara Satolli, Salvatore Rossi, Elisa Vegezzi, et al.Neurology. Genetics|April 4, 2022
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY NetworkSalvatore Rossi, Anna Rubegni, Vittorio Riso, et al.Nature Genetics|November 18, 2014
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMikko Muona, Samuel F Berkovic, Leanne M Dibbens, et al.Human Mutation|December 24, 2008
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletionPaola S Denora, David Schlesinger, Carlo Casali, et al.The Lancet. Neurology|June 12, 2018
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing studyMarialuisa Quadri, Wim Mandemakers, Martyna M Grochowska, et al.Pageof 8