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The Journal of Molecular Diagnostics : JMD|April 21, 2004
Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assayClaudia Cagnoli, Chiara Michielotto, Tohru Matsuura, et al.Archives of Neurology|May 19, 2004
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian familiesAlfredo Brusco, Cinzia Gellera, Claudia Cagnoli, et al.Movement Disorders : Official Journal of the Movement Disorder Society|June 21, 2008
A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxiaClaudia Cagnoli, Alessandro Brussino, Luca Sbaiz, et al.Brain : a Journal of Neurology|October 28, 2005
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2Claudia Cagnoli, Caterina Mariotti, Franco Taroni, et al.The Journal of Molecular Diagnostics : JMD|January 27, 2006
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assayClaudia Cagnoli, Giovanni Stevanin, Chiara Michielotto, et al.Human Mutation|December 5, 2019
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findingsLuiz G Dufner Almeida, Santoesha Nanhoe, Andrea Zonta, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 15, 2010
Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxiaAlessandro Brussino, Claudio Graziano, Dario Giobbe, et al.Human Mutation|December 26, 2015
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous SclerosisRosemary Ekong, Mark Nellist, Marianne Hoogeveen-Westerveld, et al.Human Mutation|August 21, 2010
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxiasClaudia Cagnoli, Giovanni Stevanin, Alessandro Brussino, et al.BMC Medical Genetics|May 4, 2016
CNV analysis in 169 patients with bladder exstrophy-epispadias complexCatharina von Lowtzow, Andrea Hofmann, Rong Zhang, et al.Pageof 2