Claudia Cagnoli

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Daniela Di Bella, Federico Lazzaro, Alfredo Brusco et al. · Nature Genetics · 2010 · 338 citations

Mitochondrial Function, Genetic Disorder, Genetics +4

Molecular Genetics of Hereditary Spinocerebellar Ataxia

Alfredo Brusco, Cinzia Gellera, Claudia Cagnoli et al. · Archives of Neurology · 2004 · 146 citations

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2

Claudia Cagnoli, Caterina Mariotti, Franco Taroni et al. · Brain · 2005 · 139 citations · Full text

An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene

Alessandro Saluto, Alessandro Brussino, Flora Tassone et al. · Journal of Molecular Diagnostics · 2005 · 99 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

Claudia Cagnoli, Giovanni Stévanin, Alessandro Brussino et al. · Human Mutation · 2010 · 91 citations · Full text