Sfoglia per Autore
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
2019-01-01 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
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis
2018-01-01 Cagnoli, Claudia; Brussino, Alessandro; Mancini, Cecilia; Ferrone, Marina; Orsi, Laura; Salmin, Paola; Pappi, Patrizia; Giorgio, Elisa; Pozzi, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Ferrero, Marta; Filla, Alessandro; De Michele, Giuseppe; Gellera, Cinzia; Mariotti, Caterina; Nethisinghe, Suran; Giunti, Paola; Stevanin, Giovanni; Brusco, Alfredo
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways
2013-01-01 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
Genome-wide expression analysis identified defects in cell growth, proliferation and viability in SCA28 lymphoblastoid cell lines.
2013-01-01 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
Functional characterization of missense mutations in SCA28 patients, and development of a mouse model of the disease
2011-01-01 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
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients
2011-01-01 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
Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias
2010-01-01 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
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
2010-01-01 Di Bella D; Lazzaro F; Brusco A; Plumari M; Battaglia G; Pastore A; Finardi A; Cagnoli C; Tempia F; Frontali M; Veneziano L; Sacco T; Boda E; Brussino A; Bonn F; Castellotti B; Baratta S; Mariotti C; Gellera C; Fracasso V; Magri S; Langer T; Plevani P; Di Donato S; Muzi-Falconi M; Taroni F
Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15
2010-01-01 Di Gregorio E; Orsi L; Godani M; Vaula G; Jensen S; Salmon E; Ferrari G; Squadrone S; Abete MC; Cagnoli C; Brussino A; Brusco A
Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease
2010-01-01 Sacco T; Boda E; Hoxha E; Pizzo R; Cagnoli C; Brusco A; Tempia F
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations
2010-01-01 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
AFG3L2 mutations cause autosomal dominant ataxia SCA28 and reveal an essential role for the mitochondrial m-AAA protease complex in the cerebellum
2009-01-01 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
Spinocerebellar ataxia type 15: clinical and molecular-genetics features of two Italian families
2009-01-01 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
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy
2009-01-01 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
Mutations in the lamin B1 gene are not present in multiple sclerosis
2009-01-01 Brussino A; D'Alfonso S; Cagnoli C; Di Gregorio E; Barberis M; Padovan S; Vaula G; Pinessi L; Squadrone S; Abete MC; Collimedaglia L; Guerini FR; Migone N; 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
2009-01-01 Cagnoli C; Brussino A; Turco E; Mancini C; Altruda F; Brusco A
Conventional mutations are associated with a different phenotype than polyglutamine expansions in spinocerebellar ataxias
2009-01-01 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
A previously undiagnosed case of GERSTMANN-STRÄUSSLER-SCHEINKER disease revealed by PRNP gene analysis in patients with adult-onset ataxia
2008-01-01 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 of the m-AAA AGF3L2 homocomplex in the cerebellum
2008-01-01 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
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy
2008-01-01 CAGNOLI C; BRUSSINO A; DI GREGORIO E; CAROPPO P; STOLA S; DRAGONE E; FERRONE M; PADOVAN S; MIGONE N; ORSI L; BRUSCO A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis | 2018 | Cagnoli, Claudia; Brussino, Alessandro; Mancini, Cecilia; Ferrone, Marina; Orsi, Laura; Salmin, Paola; Pappi, Patrizia; Giorgio, Elisa; Pozzi, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Ferrero, Marta; Filla, Alessandro; De Michele, Giuseppe; Gellera, Cinzia; Mariotti, Caterina; Nethisinghe, Suran; Giunti, Paola; Stevanin, Giovanni; Brusco, Alfredo | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 | 2010 | Di Bella D; Lazzaro F; Brusco A; Plumari M; Battaglia G; Pastore A; Finardi A; Cagnoli C; Tempia F; Frontali M; Veneziano L; Sacco T; Boda E; Brussino A; Bonn F; Castellotti B; Baratta S; Mariotti C; Gellera C; Fracasso V; Magri S; Langer T; Plevani P; Di Donato S; Muzi-Falconi M; Taroni F | |
| Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15 | 2010 | Di Gregorio E; Orsi L; Godani M; Vaula G; Jensen S; Salmon E; Ferrari G; Squadrone S; Abete MC; Cagnoli C; Brussino A; Brusco A | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Mutations in the lamin B1 gene are not present in multiple sclerosis | 2009 | Brussino A; D'Alfonso S; Cagnoli C; Di Gregorio E; Barberis M; Padovan S; Vaula G; Pinessi L; Squadrone S; Abete MC; Collimedaglia L; Guerini FR; Migone N; 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 | |
| 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 | |
| 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 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 | |
| Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy | 2008 | CAGNOLI C; BRUSSINO A; DI GREGORIO E; CAROPPO P; STOLA S; DRAGONE E; FERRONE M; PADOVAN S; MIGONE N; ORSI L; BRUSCO A |
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