Works matching AU Cagnoli, Claudia

Results: 14

Two Italian Families with ITPR1 Gene Deletion Presenting a Broader Phenotype of SCA15.

Published in:

Cerebellum, 2010, v. 9, n. 1, p. 115, doi. 10.1007/s12311-009-0154-0

By:

Di Gregorio, Eleonora;
Orsi, Laura;
Godani, Massimiliano;
Vaula, Giovanna;
Jensen, Stella;
Salmon, Eric;
Ferrari, Giancarlo;
Squadrone, Stefania;
Abete, Maria Cesarina;
Cagnoli, Claudia;
Brussino, Alessandro;
Brusco, Alfredo

Publication type:

Article

Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

Published in:

Cerebellum, 2008, v. 7, n. 2, p. 184, doi. 10.1007/s12311-008-0053-9

By:

Mariotti, Caterina;
Brusco, Alfredo;
Bella, Daniela;
Cagnoli, Claudia;
Seri, Marco;
Gellera, Cinzia;
Donato, Stefano;
Taroni, Franco

Publication type:

Article

A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia.

Published in:

2008

By:

Cagnoli C;
Brussino A;
Sbaiz L;
Di Gregorio E;
Atzori C;
Caroppo P;
Orsi L;
Migone N;
Buffa C;
Imperiale D;
Brusco A;
Cagnoli, Claudia;
Brussino, Alessandro;
Sbaiz, Luca;
Di Gregorio, Eleonora;
Atzori, Cristiana;
Caroppo, Paola;
Orsi, Laura;
Migone, Nicola;
Buffa, Carlo

Publication type:

journal article

A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia.

Published in:

Movement Disorders, 2008, v. 23, n. 10, p. 1468, doi. 10.1002/mds.21953

By:

Cagnoli, Claudia;
Brussino, Alessandro;
Sbaiz, Luca;
Di Gregorio, Eleonora;
Atzori, Cristiana;
Caroppo, Paola;
Orsi, Laura;
Migone, Nicola;
Buffa, Carlo;
Imperiale, Daniele;
Brusco, Alfredo

Publication type:

Article

The (−16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.

Published in:

Movement Disorders, 2007, v. 22, n. 5, p. 752, doi. 10.1002/mds.21389

By:

Cagnoli, Claudia;
Brussino, Alessandro;
Di Gregorio, Eleonora;
Brusco, Alfredo;
Stevanin, Giovanni;
Durr, Alexandra;
Brice, Alexis

Publication type:

Article

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

Published in:

Nature Genetics, 2010, v. 42, n. 4, p. 313, doi. 10.1038/ng.544

By:

Di Bella, Daniela;
Lazzaro, Federico;
Brusco, Alfredo;
Plumari, Massimo;
Battaglia, Giorgio;
Pastore, Annalisa;
Finardi, Adele;
Cagnoli, Claudia;
Tempia, Filippo;
Frontali, Marina;
Veneziano, Liana;
Sacco, Tiziana;
Boda, Enrica;
Brussino, Alessandro;
Bonn, Florian;
Castellotti, Barbara;
Baratta, Silvia;
Mariotti, Caterina;
Gellera, Cinzia;
Fracasso, Valentina

Publication type:

Article

Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy.

Published in:

Journal of Neurology, 2008, v. 255, n. 7, p. 1079, doi. 10.1007/s00415-008-0772-3

By:

Cagnoli, Claudia;
Brussino, Alessandro;
Di Gregorio, Eleonora;
Caroppo, Paola;
Stola, Silvia;
Dragone, Elisa;
Ferrone, Marina;
Padovan, Sergio;
Migone, Nicola;
Orsi, Laura;
Brusco, Alfredp

Publication type:

Article

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

Published in:

2006

By:

Cagnoli C;
Mariotti C;
Taroni F;
Seri M;
Brussino A;
Michielotto C;
Grisoli M;
Di Bella D;
Migone N;
Gellera C;
Di Donato S;
Brusco A;
Cagnoli, Claudia;
Mariotti, Caterina;
Taroni, Franco;
Seri, Marco;
Brussino, Alessandro;
Michielotto, Chiara;
Grisoli, Marina;
Di Bella, Daniela

Publication type:

journal article

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

Published in:

Brain: A Journal of Neurology, 2006, v. 129, n. 1, p. 235, doi. 10.1093/brain/awh651

By:

Claudia Cagnoli;
Caterina Mariotti

Publication type:

Article

Mouse brain expression patterns of Spg7, Afg3l1,and Afg3l2 transcripts, encoding for themitochondrial m-AAA protease.

Published in:

BMC Neuroscience, 2010, v. 11, p. 55, doi. 10.1186/1471-2202-11-55

By:

Sacco, Tiziana;
Boda, Enrica;
Hoxha, Eriola;
Pizzo, Riccardo;
Cagnoli, Claudia;
Brusco, Alfredo;
Tempia, Filippo

Publication type:

Article

SARS-CoV-2 screening among healthcare workers in a local Health Department of North-Western Italy.

Published in:

Microbiologia Medica, 2021, v. 36, n. 3, p. 1, doi. 10.4081/mm.2021.9889

By:

Cagnoli, Claudia;
Contarini, Maria Natalia;
Bellistri, Guglielmo;
Cupo, Marco;
Predebon, Ginevra;
Giordanino, Marco;
Vezzaro, Francesca;
Marincheva, Galina;
Roletto, Adele;
Belforte, Adriana;
Panato, Rosetta;
Cambursano, Sandra Stefania;
Russo, Francesco;
Perrone, Flavia;
Tomasella, Ivan;
Manna, Erika;
Allasia, Cinzia;
Allocco, Alessandra

Publication type:

Article

Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1–3, 6 and 7 CAG expansions.

Published in:

Journal of Neurology, 2002, v. 249, n. 7, p. 923, doi. 10.1007/s00415-002-0760-y

By:

Brusco, Alfredo;
Cagnoli, Claudia;
Franco, Alessandra;
Dragone, Elisa;
Nardacchione, Antonella;
Grosso, Enrico;
Mortara, Paolo;
Mutani, Roberto;
Migone, Nicola;
Orsi, Laura

Publication type:

Article

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

Published in:

Human Mutation, 2010, v. 31, n. 10, p. 1117, doi. 10.1002/humu.21342

By:

Cagnoli, Claudia;
Stevanin, Giovanni;
Brussino, Alessandro;
Barberis, Marco;
Mancini, Cecilia;
Margolis, Russell L.;
Holmes, Susan E.;
Nobili, Marcello;
Forlani, Sylvie;
Padovan, Sergio;
Pappi, Patrizia;
Zaros, Cécile;
Leber, Isabelle;
Ribai, Pascale;
Pugliese, Luisa;
Assalto, Corrado;
Brice, Alexis;
Migone, Nicola;
Dürr, Alexandra;
Brusco, Alfredo

Publication type:

Article

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.

Published in:

BMC Medical Genomics, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8794-6-22

By:

Mancini, Cecilia;
Roncaglia, Paola;
Brussino, Alessandro;
Stevanin, Giovanni;
Lo Buono, Nicola;
Krmac, Helena;
Maltecca, Francesca;
Gazzano, Elena;
Stella, Anna Bartoletti;
Calvaruso, Maria Antonietta;
Iommarini, Luisa;
Cagnoli, Claudia;
Forlani, Sylvie;
Le Ber, Isabelle;
Durr, Alexandra;
Brice, Alexis;
Ghigo, Dario;
Casari, Giorgio;
Porcelli, Anna Maria;
Funaro, Ada

Publication type:

Article