BRUSSINO, Alessandro

BRUSSINO, Alessandro  

SCIENZE MEDICHE  

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Risultati 1 - 20 di 29 (tempo di esecuzione: 0.026 secondi).
Titolo Data di pubblicazione Autore(i) File
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 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
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
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 2011 Pietro Cortelli; Alfredo Brusco; A. Brussino; Sabina Capellari; Eleonora Di Gregorio; Daniela Lacerenza; Elisa Giorgio; Piero Parchi; Rocco Liguori; Raffele Lodi; Giovanna Vaula; Andrea Contestabile; Denise Ferrera; Claudio Canale; Laura Gasparini
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
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models 2015 Pietro Cortelli; Alfredo Brusco; A. Brussino; Elisa Giorgio; Stylianos E. Antonarakis; Len Pennacchio; Malte Spielmann; Eleonora Di Gregorio; Sabina Capellari; Anna Bartoletti Stella; Rossana Terlizzi; Piero Parchi; Rocco Liguori;Stefano Zanigni; Caterina Tonon; Raffele Lodi; Giovanna Vaula; Andrea Contestabile; Sameehan Mahajani; Caterina Giacomini; Laura Gasparini
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 2014 C. Mancini1; S. Nassani2; Y. Guo3; E. Giorgio1; A. Calcia1; X. Liu4; E. Di Gregorio5; S. Cavalieri5; E. Pozzi1; A. Brussino1; Y. Xie4; F. Wang3; L. Tian3; W. Chen4; B. Nmezi6; Q. S. Padiath6; H. Jiang4;7; A. Kyttala8; N. R. Pizio2; H. Hakonarson3;9;10; A. Brusco1
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
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways. 2013 MANCINI C.; Roncaglia P; Brussino A; Stevanin G; Lo Buono N; Krmac H; Maltecca F; Gazzano E; Bartoletti Stella A; Calvaruso MA; 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.
Identification of pathogenic mechanisms of Spinocerebellar Ataxia, type 28 (SCA28). 2012 MANCINI C.; Roncaglia P; Lo Buono N; Gazzano E; Bartoletti Stella A; Mariani E; Calvaruso M; Iommarini L; Brussino A; Cagnoli C.; Krmac H; Stevanin G; Forlani S; Funaro A; Durr A; Porcelli A; Ghigo D; Gasparre G; Gustincich S; Brusco A
LAMIN B1 DYSREGULATION IN AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): GENETICS AND BIOLOGICAL MECHANISMS 2013 Giorgio E; Ferrero M; ; Boda E; Eleonora Di Gregorio;Vaula G; Mandich P;Gahl W;Pinto Vairo F; Boespflug-Tanguy O; Cortelli P; Brussino A; Buffo A; Brusco A