CAGNOLI, CLAUDIA

CAGNOLI, CLAUDIA  

Dip. GENETICA, BIOLOGIA E BIOCHIMICA (attivo dal 01/01/1900 al 31/12/2012)  

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The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients 2007 CAGNOLI C; BRUSSINO A; DI GREGORIO E; BRUSCO A; STEVANIN G; DURR A; BRICE A
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations 2010 Brussino A; Vaula G; Cagnoli C; Panza E; Seri M; Di Gregorio E; Scappaticci S; Camanini S; Daniele D; Bradac GB; Pinessi L; Cavalieri S; Grosso E; Migone N; Brusco A
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients 2011 Mancini C; Roncaglia P; Lo Buono N; Brussino A; Cagnoli C; Maltecca F; Krmac H; Limongi T; Stevanin G; Forlani S; Casari G; Funaro A; Durr A; Migone N; Gustincich S; Brusco A
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy 2009 Brussino A; Vaula G; Cagnoli C; Mauro A; Pradotto L; Daniele D; Di Gregorio E; Barberis M; Arduino C; Squadrone S; Abete MC; Migone N; Calabrese O; Brusco A
A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia 2008 Cagnoli C; Brussino A; Sbaiz L; Di Gregorio E; Atzori C; Caroppo P; Orsi L; Migone N; Buffa C; Imperiale D; Brusco A
AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role for the mitochondrial m-AAA protease complex in the cerebellum 2009 Di Bella D; Lazzaro F; Brusco A; Battaglia G; Pastore A; Finardi A; Fracasso V; Plumari M; Cagnoli C; Tempia F;Brussino A; Gellera C; Mariotti C; Pievani P;Di Donato S; Langer T; Muzi-Falconi M; Taroni F
AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role of the m-AAA AGF3L2 homocomplex in the cerebellum 2008 DiBella D; Lazzaro F; Brusco A; Battaglia G; Pastore A; Finardi A; Fracasso V; Plumari M; Cagnoli C; Tempia F; Brussino A; Gellera C; Mariotti C; Pievani P; DiDonato S; Langer T; Muzi-Falconi M; Taroni F
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. 2002 BRUSCO A; CAGNOLI C; FRANCO A; DRAGONE E; NARDACCHIONE A; GROSSO E; MORTARA P; MUTANI R; MIGONE N; ORSI L
Conventional mutations are associated with a different phenotype than polyglutamine expansions in spinocerebellar ataxias 2009 Stevanin G; Forlani S; Cazeneuve C; Cagnoli C; Figueroa K; Lorenzo D; Johnson J; van de Leemput J; Viemont M; Camuzat A; Singleton A; Ranum L; Pulst S; Brusco A; Leguern E; Brice A; Durr A
Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay 2004 Cagnoli, Claudia; Michielotto, Chiara; Matsuura, T; Ashizawa, T; Margolis, Rl; Holmes, Se; Gellera, C; Migone, Nicola; Brusco, Alfredo
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene 2005 Saluto, Alessandro; Brussino, Alessandro; Tassone, Flora; Arduino, Carlo; Cagnoli, Claudia; Pappi, Patrizia; Hagerman, P; Migone, Nicola; Brusco, Alfredo
Functional characterization of missense mutations in SCA28 patients, and development of a mouse model of the disease 2011 Mancini C; Roncaglia P; Stevanin G; Durr A; Brussino A; Cagnoli C; Krmac H; Limongi T; Montarolo F; Hoxha E; Turco E; Messana E; Altruda F; Gustincich S; Tempia F; Brusco A
Functional characterization of missense mutations in SCA28 patients, development of a mouse model of the disease and screening of candidate genes for cerebellar ataxia 2009 Cagnoli C; Brussino A; Turco E; Mancini C; Altruda F; Brusco A
Genome-wide expression analysis identified defects in cell growth, proliferation and viability in SCA28 lymphoblastoid cell lines. 2013 Mancini C; Roncaglia P; Brussino A; Stevanin G; Lo Buono N; Krmac H; Maltecca F; Gazzano E; Bartoletti Stella A.; Calvaruso M.A.; Iommarini L.; Cagnoli C.; Forlani S; Le Ber I; Durr A; Brice A; Ghigo D; Casari G; Porcelli AM; Funaro A; Gasparre G; Gustincich S; Brusco A
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 2013 Cecilia Mancini;Paola Roncaglia;Alessandro Brussino;Giovanni Stevanin;Nicola Lo Buono;Helena Krmac;Francesca Maltecca;Elena Gazzano;Anna Bartoletti Stella;Maria Calvaruso;Luisa Iommarini;Claudia Cagnoli;Sylvie Forlani;Isabelle Le Ber;Alexandra Durr;Alexis Brice;Dario Ghigo;Giorgio Casari;Anna Porcelli;Ada Funaro;Giuseppe Gasparre;Stefano Gustincich;Alfredo Brusco
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay 2006 CAGNOLI C; STEVANIN G; MICHIELOTTO C; GERBINO PROMIS G; BRUSSINO A; PAPPI P; DURR A; DRAGONE E; VIEMONT M; GELLERA C; BRICE A; MIGONE N; BRUSCO A
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 2019 Mancini, Cecilia; Hoxha, Eriola; Iommarini, Luisa; Brussino, Alessandro; Richter, Uwe; Montarolo, Francesca; Cagnoli, Claudia; Parolisi, Roberta; Gondor Morosini, Diana Iulia; Nicolò, Valentina; Maltecca, Francesca; Muratori, Luisa; Ronchi, Giulia; Geuna, Stefano; Arnaboldi, Francesca; Donetti, Elena; Giorgio, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Casari, Giorgio; Altruda, Fiorella; Turco, Emilia; Gasparre, Giuseppe; Battersby, Brendan J.; Porcelli, Anna Maria; Ferrero, Enza; Brusco, Alfredo; Tempia, Filippo
Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias 2010 Cagnoli C; Stevanin G; Brussino A; Barberis M; Mancini C; Margolis RL; Holmes SE; Nobili M; Forlani S; Padovan S; Pappi P; Zaros C; Leber I; Ribai P; Pugliese L; Assalto C; Brice A; Migone N; Dürr A; Brusco A
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families 2004 BRUSCO A; GELLERA C; CAGNOLI C; SALUTO A; CASTUCCI A; MICHIELOTTO C; FETONI V; MARIOTTI C; MIGONE N; DI DONATO S; TARONI F
Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease 2010 Sacco T; Boda E; Hoxha E; Pizzo R; Cagnoli C; Brusco A; Tempia F