1
TITLE: Cryptic Splice-Altering Variants inMYBPC3Are a Prevalent Cause of Hypertrophic Cardiomyopathy
AUTHORS: Luis R Lopes; Pedro Barbosa; Mario Torrado; Ellie Quinn; Ana Merino; Juan Pablo Ochoa; Joanna Jager; Marta Futema; Maria Carmo Fonseca; Lorenzo Monserrat; Petros Syrris; Perry M Elliott;
PUBLISHED: 2020, SOURCE: CIRCULATION-GENOMIC AND PRECISION MEDICINE, VOLUME: 13, ISSUE: 3
INDEXED IN: Scopus WOS
2
TITLE: Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis  Full Text
AUTHORS: Angela Lopez Sainz; Fernando Dominguez; Luis R Rocha Lopes; Juan P Pablo Ochoa; Roberto Barriales Villa; Vicente Climent; Marijke Linschoten; Coloma Tiron; Chiara Chiriatti; Nuno Marques; Torsten B Rasmussen; Maria A Angeles Espinosa; Roy Beinart; Giovanni Quarta; Sergi Cesar; Ella Field; Jose M Garcia Pinilla; Zofia Bilinska; Alison R Muir; Angharad M Roberts; Enrique Santas; Esther Zorio; Maria L Luisa Pena Pena; Marina Navarro; Adrian Fernandez; Julian Palomino Doza; Olga Azevedo; Massimiliano Lorenzini; Maria I Garcia Alvarez; Dina Bento; Morten K Jensen; Irene Mendez; Laura Pezzoli; Georgia Sarquella Brugada; Oscar Campuzano; Esther Gonzalez Lopez; Jens Mogensen; Juan P Pablo Kaski; Michael Arad; Ramon Brugada; Folkert W Asselbergs; Lorenzo Monserrat; Iacopo Olivotto; Perry M Elliott; Pablo Garcia Pavia; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, VOLUME: 76, ISSUE: 2
INDEXED IN: WOS
3
TITLE: European expert consensus statement on therapeutic goals in Fabry disease  Full Text
AUTHORS: Christoph Wanner; Michael Arad; Ralf Baron; Alessandro Burlina; Perry M Elliott; Ulla Feldt Rasmussen; Victor V Fomin; Dominique P Germain; Derralynn A Hughes; Ana Jovanovic; Ilkka Kantola; Ales Linhart; Renzo Mignani; Lorenzo Monserrat; Mehdi Namdar; Albina Nowak; Oliveira, JP ; Alberto Ortiz; Maurizio Pieroni; Marco Spada; Anna Tylki Szymanska; Camilla Tondel; Miguel Viana Baptista; Frank Weidemann; Max J Hilz; ...More
PUBLISHED: 2018, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 124, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 72
4
TITLE: Prognostic role of stress echocardiography in hypertrophic cardiomyopathy: The International Stress Echo Registry  Full Text
AUTHORS: Quirino Ciampi; Iacopo Olivotto; Chiara Gardini; Fabio Mori; Jesus Peteiro; Lorenzo Monserrat; Xusto Fernandez; Lauro Cortigiani; Fausto Rigo; Luis Rocha Lopes; Ines Cruz; Carlos Cotrim; Mariangela Losi; Sandro Betocchi; Branko Beleslin; Milorad Tesic; Ana Djordjevic Dikic; Ettore Lazzeroni; Davide Lazzeroni; Rosa Sicari; Eugenio Picano; ...More
PUBLISHED: 2016, SOURCE: INTERNATIONAL JOURNAL OF CARDIOLOGY, VOLUME: 219
INDEXED IN: Scopus WOS CrossRef