BRUSSINO, Alessandro
BRUSSINO, Alessandro
SCIENZE MEDICHE
The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients
2007-01-01 CAGNOLI C; BRUSSINO A; DI GREGORIO E; BRUSCO A; STEVANIN G; DURR A; BRICE A
A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY
2012-01-01 Giorgio E; Robyr D; Di Gregorio E; Lacerenza D; Vaula G; Brusco A; Antonarakis SE; Brussino A
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia
2013-01-01 Eleonora Di Gregorio; Federico T. Bianchi; Alfonso Schiavi; Alessandra M.A. Chiotto; Marco Rolando; Ludovica Verdun di Cantogno; Enrico Grosso; Simona Cavalieri ; Alessandro Calcia; Daniela Lacerenza; Orsetta Zuffardi; Saverio Francesco Retta; Giovanni Stevanin; Cecilia Marelli; Alexandra Durr; Sylvie Forlani; Jamel Chelly; Francesca Montarolo; Filippo Tempia; Hilary E. Beggs; Robin Reed; Stefania Squadrone; Maria C. Abete; Alessandro Brussino; Natascia Ventura; Ferdinando Di Cunto; Alfredo Brusco
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
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
A LARGE GENOMIC DELETION UPSTREAM OF THE LAMIN B1 GENE (LMNB1) LIKELY CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY DUE TO ALTERATION OF THE REGULATORY LANDSCAPE OF LMNB1
2013-01-01 E. Giorgio; D. Robyr; E. Di Gregorio; D. Lacerenza; G. Vaula; D. Imperiale; C. Atzori; A. Brusco; S. Antonarakis; A. Brussino
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
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
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
2015-01-01 Mancini C;Nassani S;Guo Y;Chen Y;Giorgio E;Brussino A;Di Gregorio E;Cavalieri S;Lo Buono N;Funaro A;Pizio NR;Nmezi B;Kyttala A;Santorelli FM;Padiath QS;Hakonarson H;Zhang H;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
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
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy
2019-01-01 Giorgio, Elisa; Lorenzati, Martina; Rivetti di Val Cervo, Pia; Brussino, Alessandro; Cernigoj, Manuel; Della Sala, Edoardo; Bartoletti Stella, Anna; Ferrero, Marta; Caiazzo, Massimiliano; Capellari, Sabina; Cortelli, Pietro; Conti, Luciano; Cattaneo, Elena; Buffo, Annalisa; Brusco, Alfredo
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression
2013-01-01 Elisa Giorgio;Harshvardhan Rolyan;Laura Kropp;Anish Baswanth Chakka;Svetlana Yatsenko;Eleonora Di Gregorio;Daniela Lacerenza;Giovanna Vaula;Flavia Talarico;Paola Mandich;Camilo Toro;Eleonore Eymard Pierre;Pierre Labauge;Sabina Capellari;Pietro Cortelli;Filippo Pinto Vairo;Diego Miguel;Danielle Stubbolo;Lourenco Charles Marques;William Gahl;Odile Boespflug-Tanguy;Atle Melberg;Sharon Hassin-Baer;Oren S. Cohen;Rastislav Pjontek;Armin Grau;Thomas Klopstock;Brent Fogel;Inge Meijer;Guy Rouleau;Jean-Pierre L. Bouchard;Madhavi Ganapathiraju;Adeline Vanderver;Niklas Dahl;Grace Hobson;Alfredo Brusco;Alessandro Brussino;Quasar Saleem Padiath
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications
2015-01-01 Di Gregorio, Eleonora; Gai, Giorgia; Botta, Giovanni; Calcia, Alessandro; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Ribotta, Marisa; Zonta, Andrea; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Restagno, Gabriella; Ferrero, Giovanni B; Viora, Elsa; Pasini, Barbara; Grosso, Enrico; Brusco, Alfredo; Brussino, Alessandro
AUTOSOMAL DOMINANT LEUKODYSTROPHY: GENETIC CHARACTERIZATION OF EIGHT FAMILIES WITH HOMOGENEOUS PHENOTYPE
2011-01-01 G. VAULA; A. BRUSSINO; P. CORTELLI; E. DI GREGORIO; P. MANDICH; E. GIORGIO; D. LACERENZA; S. CAPELLARI; F. TALARICO; W. GAHL; O. BOESPFLUG-TANGUY E. PIERRE; C. TORO; F. PINTO VAIRO; A. BRUSCO
Autosomal dominant adult–onset leukodystrophy (ADLD) without LMNB1 mutations: a new variant?
2009-01-01 G. Vaula; A. Brussino; M. Seri; E. Di Gregorio; S. Leombruni; D. Daniele; G.B. Bradac; L. Pinessi; A. Brusco
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype
2011-01-01 Vaula G; Brussino A; Cortelli P; Di gregorio E; Mandich P; Giorgio E; Lacerenza D; Capellari S; Talarico F; Gahl W; Boespflug- Tanguy O; Pierre E; Toro C; Pinto Vairo F; Brusco A
Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients
2011-01-01 Brussino A; Di Gregorio E; Giorgio E; Lacerenza D; Talarico F; Vaula G; Mandich P; Toro C; Pierre E; Labauge P; Capellari S; Cortelli P; Pinto Vairo F; Gahl W; Boespflug- Tanguy O; Brusco A
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE
2014-01-01 S. GIACONE ; E. GIORGIO ; A. BRUSSINO ; A. BRUSCO ; P. CERRATO ; S. LEOMBRUNI ; M. ROMANELLI ; A. TERRENI ; L. PINESSI ; G. V AULA
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS
2013-01-01 Denise Ferrera; Caterina Giacomini; Claudio Canale; Elisa Giorgio; A. Brussino; Sabina Capellari; Roberto Marotta; Eleonora Di Gregorio; Giovanna Vaula; Robyr D.; Antonarakis S.E.; Mandich P.; Alfredo Brusco; Pietro Cortelli; Laura Gasparini
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY | 2012 | Giorgio E; Robyr D; Di Gregorio E; Lacerenza D; Vaula G; Brusco A; Antonarakis SE; Brussino A | |
| A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia | 2013 | Eleonora Di Gregorio; Federico T. Bianchi; Alfonso Schiavi; Alessandra M.A. Chiotto; Marco Rolando; Ludovica Verdun di Cantogno; Enrico Grosso; Simona Cavalieri ; Alessandro Calcia; Daniela Lacerenza; Orsetta Zuffardi; Saverio Francesco Retta; Giovanni Stevanin; Cecilia Marelli; Alexandra Durr; Sylvie Forlani; Jamel Chelly; Francesca Montarolo; Filippo Tempia; Hilary E. Beggs; Robin Reed; Stefania Squadrone; Maria C. Abete; Alessandro Brussino; Natascia Ventura; Ferdinando Di Cunto; Alfredo Brusco | |
| 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 LARGE GENOMIC DELETION UPSTREAM OF THE LAMIN B1 GENE (LMNB1) LIKELY CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY DUE TO ALTERATION OF THE REGULATORY LANDSCAPE OF LMNB1 | 2013 | E. Giorgio; D. Robyr; E. Di Gregorio; D. Lacerenza; G. Vaula; D. Imperiale; C. Atzori; A. Brusco; S. Antonarakis; A. Brussino | |
| 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 | |
| Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. | 2015 | Mancini C;Nassani S;Guo Y;Chen Y;Giorgio E;Brussino A;Di Gregorio E;Cavalieri S;Lo Buono N;Funaro A;Pizio NR;Nmezi B;Kyttala A;Santorelli FM;Padiath QS;Hakonarson H;Zhang H;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 | |
| Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy | 2019 | Giorgio, Elisa; Lorenzati, Martina; Rivetti di Val Cervo, Pia; Brussino, Alessandro; Cernigoj, Manuel; Della Sala, Edoardo; Bartoletti Stella, Anna; Ferrero, Marta; Caiazzo, Massimiliano; Capellari, Sabina; Cortelli, Pietro; Conti, Luciano; Cattaneo, Elena; Buffo, Annalisa; Brusco, Alfredo | |
| Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression | 2013 | Elisa Giorgio;Harshvardhan Rolyan;Laura Kropp;Anish Baswanth Chakka;Svetlana Yatsenko;Eleonora Di Gregorio;Daniela Lacerenza;Giovanna Vaula;Flavia Talarico;Paola Mandich;Camilo Toro;Eleonore Eymard Pierre;Pierre Labauge;Sabina Capellari;Pietro Cortelli;Filippo Pinto Vairo;Diego Miguel;Danielle Stubbolo;Lourenco Charles Marques;William Gahl;Odile Boespflug-Tanguy;Atle Melberg;Sharon Hassin-Baer;Oren S. Cohen;Rastislav Pjontek;Armin Grau;Thomas Klopstock;Brent Fogel;Inge Meijer;Guy Rouleau;Jean-Pierre L. Bouchard;Madhavi Ganapathiraju;Adeline Vanderver;Niklas Dahl;Grace Hobson;Alfredo Brusco;Alessandro Brussino;Quasar Saleem Padiath | |
| Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications | 2015 | Di Gregorio, Eleonora; Gai, Giorgia; Botta, Giovanni; Calcia, Alessandro; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Ribotta, Marisa; Zonta, Andrea; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Restagno, Gabriella; Ferrero, Giovanni B; Viora, Elsa; Pasini, Barbara; Grosso, Enrico; Brusco, Alfredo; Brussino, Alessandro | |
| AUTOSOMAL DOMINANT LEUKODYSTROPHY: GENETIC CHARACTERIZATION OF EIGHT FAMILIES WITH HOMOGENEOUS PHENOTYPE | 2011 | G. VAULA; A. BRUSSINO; P. CORTELLI; E. DI GREGORIO; P. MANDICH; E. GIORGIO; D. LACERENZA; S. CAPELLARI; F. TALARICO; W. GAHL; O. BOESPFLUG-TANGUY E. PIERRE; C. TORO; F. PINTO VAIRO; A. BRUSCO | |
| 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 | |
| Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype | 2011 | Vaula G; Brussino A; Cortelli P; Di gregorio E; Mandich P; Giorgio E; Lacerenza D; Capellari S; Talarico F; Gahl W; Boespflug- Tanguy O; Pierre E; Toro C; Pinto Vairo F; Brusco A | |
| Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients | 2011 | Brussino A; Di Gregorio E; Giorgio E; Lacerenza D; Talarico F; Vaula G; Mandich P; Toro C; Pierre E; Labauge P; Capellari S; Cortelli P; Pinto Vairo F; Gahl W; Boespflug- Tanguy O; Brusco A | |
| CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE | 2014 | S. GIACONE ; E. GIORGIO ; A. BRUSSINO ; A. BRUSCO ; P. CERRATO ; S. LEOMBRUNI ; M. ROMANELLI ; A. TERRENI ; L. PINESSI ; G. V AULA | |
| CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS | 2013 | Denise Ferrera; Caterina Giacomini; Claudio Canale; Elisa Giorgio; A. Brussino; Sabina Capellari; Roberto Marotta; Eleonora Di Gregorio; Giovanna Vaula; Robyr D.; Antonarakis S.E.; Mandich P.; Alfredo Brusco; Pietro Cortelli; Laura Gasparini |