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Titolo Data di pubblicazione Autore(i) File
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
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia 2005 BRUSSINO A; GELLERA C; SALUTO A; MARIOTTI C; ARDUINO C; CASTELLOTTI B; CAMERLINGO M; DE ANGELIS V; ORSI L; TOSCA P; N. MIGONE; TARONI F; BRUSCO A
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2 2006 C. CAGNOLI; C. MARIOTTI; F. TARONI; M. SERI; A. BRUSSINO; C. MICHIELOTTO; M. GRISOLI; D. DI BELLA; N. MIGONE; C. GELLERA; S. DIDONATO; A. 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
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
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
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
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
Autosomal dominant adult–onset leukodystrophy (ADLD) without LMNB1 mutations: a new variant? 2009 G. Vaula; A. Brussino; M. Seri; E. Di Gregorio; S. Leombruni; D. Daniele; G.B. Bradac; L. Pinessi; A. Brusco
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
Spinocerebellar ataxia type 12 identified in two Italian families 2009 Brussino A; Graziano C; Giobbe D; Dragone E; Ferrone M; Lodi R; Tonon C; Gabellino AS; Rinaldi R; Miccoli S; Grosso E; Bellati MC; Orsi L; 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
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
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
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
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
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
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
Spinocerebellar ataxia type 12 identified in two italian families may mimic sporadic ataxia 2010 Brussino A; Graziano C; Giobbe D; Ferrone M.M.T.; Dragone E; Arduino C; Lodi R; Tonon C; Gabellino AS; Rinaldi R; Miccoli S; Grosso E; Bellati MC; Orsi L; Migone N; Brusco A
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