CAGNOLI, CLAUDIA

CAGNOLI, CLAUDIA  

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

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Risultati 1 - 8 di 8 (tempo di esecuzione: 0.016 secondi).
Titolo Data di pubblicazione Autore(i) File
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
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
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
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
Spinocerebellar ataxia type 15: clinical and molecular-genetics features of two Italian families 2009 Di Gregorio E; Vaula G; Godani M; Orsi L; Jensen S; Salmon E; Ferrari G; Squadrone S; Abete MC; Cagnoli C; Brussino A; Brusco A