DE BORTOLI, MARZIA

DE BORTOLI, MARZIA  

Dipartimento di Biologia - DiBio  

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Risultati 1 - 16 di 16 (tempo di esecuzione: 0.033 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Arrhythmogenic right ventricular cardiomyopathy: mutation screening of candidate genes and in vitro functional studies 2008 De Bortoli, Marzia - - -
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. 2013 Rigato IBAUCE, BARBARARAMPAZZO, ALESSANDRAZorzi APILICHOU, KALLIOPIMIGLIORE, FEDERICOPERAZZOLO MARRA, MARTINADALIENTO, LUCIANOGregori DILICETO, SABINOTHIENE, GAETANOBASSO, CRISTINACORRADO, DOMENICO + CIRCULATION, CARDIOVASCULAR GENETICS - -
Mutations in the area composita protein alphaT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy 2013 CALORE, MARTINABAUCE, BARBARADAZZO, EMANUELAMAZZOTTI, ELISADE BORTOLI, MARZIALORENZON, ALESSANDRABEFFAGNA, GIORGIARIGATO, ILARIAZAGLIA, TANIACORRADO, DOMENICOBASSO, CRISTINATHIENE, GAETANODALIENTO, LUCIANONAVA, ANDREARAMPAZZO, ALESSANDRA + EUROPEAN HEART JOURNAL - -
Arrhythmogenic cardiomyopathy: a disease of intercalated discs. 2015 CALORE, MARTINALORENZON, ALESSANDRADE BORTOLI, MARZIAPOLONI, GIULIARAMPAZZO, ALESSANDRA CELL AND TISSUE RESEARCH - -
Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras 2015 DAZZO, EMANUELACONTI, SARADE BORTOLI, MARZIAROSA, MAURIZIOMILLINO, CATERINAPACCHIONI, BENIAMINA + EPILEPSY RESEARCH - -
The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway. 2015 GRECO, ELIANAAITA, ADAGALOZZI, PAOLAGAVA, ALESSANDRASFRISO, PAOLOCASO, FRANCESCODE BORTOLI, MARZIARAMPAZZO, ALESSANDRAPLEBANI, MARIOBASSO, DANIELAPUNZI, LEONARDO + ARTHRITIS RESEARCH & THERAPY - -
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life 2015 DE BORTOLI, MARZIAROMUALDI, CHIARALORENZON, ALESSANDRAANGELINI, ANNALISABASSO, CRISTINATHIENE, GAETANOILICETO, SABINORAMPAZZO, ALESSANDRA + JOURNAL OF MEDICAL GENETICS - -
Homozygous desmocollin-2 mutations and arrhythmogenic cardiomyopathy 2015 Lorenzon, AlessandraPILICHOU, KALLIOPIVAZZA, GIOVANNIOCCHI, GIANLUCAMOSTACCIUOLO, MARIA LUISADALIENTO, LUCIANOTHIENE, GAETANOCORRADO, DOMENICOBASSO, CRISTINABAUCE, BARBARARAMPAZZO, ALESSANDRA + THE AMERICAN JOURNAL OF CARDIOLOGY - -
Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies 2016 Melacini, PaolaDe Bortoli, MarziaAngelini, Annalisa + ARCHIVES OF MEDICAL SCIENCE - -
Arrhythmogenic right-ventricular cardiomyopathy: Molecular genetics into clinical practice in the era of next generation sequencing 2016 POLONI, GIULIADE BORTOLI, MARZIACALORE, MARTINARAMPAZZO, ALESSANDRALORENZON, ALESSANDRA JOURNAL OF CARDIOVASCULAR MEDICINE - -
Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients 2017 Pilichou, KalliopiLazzarini, ElisabettaRigato, IlariaCeleghin, RudyDe Bortoli, MarziaPerazzolo Marra, MartinaCason, MarcoCalore, MartinaRizzo, StefaniaRegazzo, DanielaPoloni, GiuliaIliceto, SabinoDaliento, LucianoCorrado, DomenicoThiene, GaetanoRampazzo, AlessandraBasso, CristinaBauce, BarbaraLorenzon, AlessandraOcchi, Gianluca + CIRCULATION. ARRHYTHMIA AND ELECTROPHYSIOLOGY - -
Co-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy 2017 De Bortoli, MarziaCalore, ChiaraLorenzon, AlessandraCalore, MartinaPoloni, GiuliaMazzotti, ElisaRigato, IlariaMarra, Martina PerazzoloMelacini, PaolaIliceto, SabinoThiene, GaetanoBasso, CristinaDaliento, LucianoCorrado, DomenicoRampazzo, AlessandraBauce, Barbara EUROPEAN JOURNAL OF HUMAN GENETICS - -
New FIG4 gene mutations causing aggressive ALS 2018 Bertolin C.Querin G.BOZZONI, VIRGINIAMartinelli I.De Bortoli M.Rampazzo A.Pegoraro E.Sorarù G. + EUROPEAN JOURNAL OF NEUROLOGY - -
Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy 2018 Marzia De BortoliGiulia PoloniMartina CaloreGiovanni MinerviniElisa MazzottiIlaria RigatoAlessandra LorenzonGiovanni VazzaAlberto CiprianiRiccardo BarianiMartina Perazzolo MarraGaetano ThieneLuciano DalientoDomenico CorradoCristina BassoSilvio C. E. TosattoBarbara BauceAlessandra Rampazzo. + CIRCULATION - -
A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy 2019 Poloni, GiuliaCalore, MartinaRigato, IlariaMinervini, GiovanniMazzotti, ElisaLorenzon, AlessandraTelatin, AndreaZARA, IVANOSimionati, BarbaraPerazzolo Marra, MartinaPONTI, JESSICAOcchi, GianlucaVitiello, LiberoDaliento, LucianoThiene, GaetanoBasso, CristinaCorrado, DomenicoTosatto, SilvioBauce, BarbaraRampazzo, AlessandraDe Bortoli, Marzia + HEART RHYTHM - -
Novel Missense Variant in MYL2 Gene Associated with Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology 2020 De Bortoli, MarziaBasso, CristinaCalore, MartinaMinervini, GiovanniAngelini, AnnalisaMelacini, PaolaVitiello, LiberoVazza, GiovanniThiene, GaetanoTosatto, SilvioCorrado, DomenicoIliceto, SabinoRampazzo, Alessandra + CIRCULATION - -