Concepedia

Claudia Cagnoli

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Statistics

Publications

14

Citations

1.2K

H-Index

13

Active since

2002

Affiliations

University of Turin(Current)

Azienda Ospedaliero Universitaria San Giovanni Battista

Fondazione IRCCS Istituto Neurologico Carlo Besta

Assistance Publique – Hôpitaux de Paris

Inserm

Claudia Cagnoli is an author at University of Turin specializing in life sciences, genetics, and molecular genetics.

Publications per year

2002–2018

14

Publications

14

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

Daniela Di Bella, Federico Lazzaro, Alfredo Brusco et al. · Nature Genetics · 2010 · 344 citations

, , +10

Molecular Genetics of Hereditary Spinocerebellar Ataxia

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

, , +17

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

, , +17

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 · 100 citations

, , +13

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 · 92 citations · Full text

, , +17

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