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Genetic and Phenotypic Characterization of Nexilin (NEXN)-Related Cardiomyopathy: Results From a Multicentric Study.

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Title: Genetic and Phenotypic Characterization of Nexilin (NEXN)-Related Cardiomyopathy: Results From a Multicentric Study.
Authors: Perotto M; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy., Paldino A; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy., Mazzarotto F; Department of Molecular and Translational Medicine, University of Brescia, Italy; National Heart and Lung Institute, Imperial College London, London, United Kingdom., Barbati G; Biostatistics Unit, University of Trieste, Italy., Stroeks SLVM; Department of Cardiology, Cardiovascular Research Institute (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), Maastricht University Medical Center, Maastricht, the Netherlands., Verdonschot JAJ; Department of Cardiology, Cardiovascular Research Institute (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), Maastricht University Medical Center, Maastricht, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands., Akhtar M; St Bartholomew's Hospital, Barts Heart Centre, London, United Kingdom., Elliott P; St Bartholomew's Hospital, Barts Heart Centre, London, United Kingdom., Ochoa JP; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), Madrid, Spain., Garcia-Pavia P; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), Madrid, Spain; Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain., de Frutos F; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), Madrid, Spain; Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain., Sepp R; Cardiology Center, Department of Medicine, University of Szeged (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), Szeged, Hungary., Hategan L; Cardiology Center, Department of Medicine, University of Szeged (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), Szeged, Hungary., Prasad S; Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom; National Heart and Lung Institute, Imperial College London, London, United Kingdom., Yazdani M; Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom; National Heart and Lung Institute, Imperial College London, London, United Kingdom., Morris-Rosendahl D; Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom; National Heart and Lung Institute, Imperial College London, London, United Kingdom., Palinkas ED; Cardiology Unit, Meyer University Hospital IRCCS, Florence, Italy; Doctoral School of Clinical Medicine, University of Szeged, Szeged, Hungary., Girolami F; Cardiology Unit, Meyer University Hospital IRCCS, Florence, Italy., Olivotto I; Cardiology Unit, Meyer University Hospital IRCCS, Florence, Italy; Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy., Parikh VN; Stanford Center for Inherited Cardiovascular Disease, California, USA., Fatkin D; Molecular Cardiology Division, Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales Sydney, Kensington, New South Wales, Australia; Cardiology Department, St Vincent's Hospital, Darlinghurst, New South Wales, Australia., Lakdawala N; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA., McKenna WJ; Institute of Cardiovascular Science, University College London, London, United Kingdom., Stolfo D; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy; Division of Cardiology, Department of Medicine, Karolinska Institutet, Stockholm, Sweden., Gigli M; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy., Brun F; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy., Collesi C; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy; International Center for Genetic Engineering and Biotechnology, Trieste, Italy., Giacca M; International Center for Genetic Engineering and Biotechnology, Trieste, Italy; British Heart Foundation Centre of Research Excellence, School of Cardiovascular Medicine and Sciences, King's College London, London, United Kingdom., Zacchigna S; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy; International Center for Genetic Engineering and Biotechnology, Trieste, Italy., Severini GM; Division of Cardiology, Department of Medicine, Karolinska Institutet, Stockholm, Sweden., Lenarduzzi S; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, Trieste, Italy., Spedicati B; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy., Santin A; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy., Girotto G; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, Trieste, Italy., Gasparini P; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, Trieste, Italy., Taylor MRG; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Mestroni L; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Merlo M; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy., Sinagra G; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy., Dal Ferro M; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy. Electronic address: matteo.dalferro@asugi.sanita.fvg.it.
Source: JACC. Heart failure [JACC Heart Fail] 2025 Sep; Vol. 13 (9), pp. 102529. Date of Electronic Publication: 2025 Jul 18.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101598241 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-1787 (Electronic) Linking ISSN: 22131779 NLM ISO Abbreviation: JACC Heart Fail Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genetic and Phenotypic Characterization of Nexilin (NEXN)-Related Cardiomyopathy: Results From a Multicentric Study.
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  Data: <searchLink fieldCode="AU" term="%22Perotto+M%22">Perotto M</searchLink>; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Paldino+A%22">Paldino A</searchLink>; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Mazzarotto+F%22">Mazzarotto F</searchLink>; Department of Molecular and Translational Medicine, University of Brescia, Italy; National Heart and Lung Institute, Imperial College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Barbati+G%22">Barbati G</searchLink>; Biostatistics Unit, University of Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Stroeks+SLVM%22">Stroeks SLVM</searchLink>; Department of Cardiology, Cardiovascular Research Institute (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), Maastricht University Medical Center, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Verdonschot+JAJ%22">Verdonschot JAJ</searchLink>; Department of Cardiology, Cardiovascular Research Institute (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), Maastricht University Medical Center, Maastricht, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Akhtar+M%22">Akhtar M</searchLink>; St Bartholomew's Hospital, Barts Heart Centre, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Elliott+P%22">Elliott P</searchLink>; St Bartholomew's Hospital, Barts Heart Centre, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ochoa+JP%22">Ochoa JP</searchLink>; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Garcia-Pavia+P%22">Garcia-Pavia P</searchLink>; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), Madrid, Spain; Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22de+Frutos+F%22">de Frutos F</searchLink>; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), Madrid, Spain; Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Sepp+R%22">Sepp R</searchLink>; Cardiology Center, Department of Medicine, University of Szeged (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), Szeged, Hungary.<br /><searchLink fieldCode="AU" term="%22Hategan+L%22">Hategan L</searchLink>; Cardiology Center, Department of Medicine, University of Szeged (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), Szeged, Hungary.<br /><searchLink fieldCode="AU" term="%22Prasad+S%22">Prasad S</searchLink>; Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom; National Heart and Lung Institute, Imperial College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Yazdani+M%22">Yazdani M</searchLink>; Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom; National Heart and Lung Institute, Imperial College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Morris-Rosendahl+D%22">Morris-Rosendahl D</searchLink>; Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom; National Heart and Lung Institute, Imperial College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Palinkas+ED%22">Palinkas ED</searchLink>; Cardiology Unit, Meyer University Hospital IRCCS, Florence, Italy; Doctoral School of Clinical Medicine, University of Szeged, Szeged, Hungary.<br /><searchLink fieldCode="AU" term="%22Girolami+F%22">Girolami F</searchLink>; Cardiology Unit, Meyer University Hospital IRCCS, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Olivotto+I%22">Olivotto I</searchLink>; Cardiology Unit, Meyer University Hospital IRCCS, Florence, Italy; Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Parikh+VN%22">Parikh VN</searchLink>; Stanford Center for Inherited Cardiovascular Disease, California, USA.<br /><searchLink fieldCode="AU" term="%22Fatkin+D%22">Fatkin D</searchLink>; Molecular Cardiology Division, Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales Sydney, Kensington, New South Wales, Australia; Cardiology Department, St Vincent's Hospital, Darlinghurst, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Lakdawala+N%22">Lakdawala N</searchLink>; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22McKenna+WJ%22">McKenna WJ</searchLink>; Institute of Cardiovascular Science, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Stolfo+D%22">Stolfo D</searchLink>; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy; Division of Cardiology, Department of Medicine, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Gigli+M%22">Gigli M</searchLink>; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Brun+F%22">Brun F</searchLink>; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Collesi+C%22">Collesi C</searchLink>; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy; International Center for Genetic Engineering and Biotechnology, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Giacca+M%22">Giacca M</searchLink>; International Center for Genetic Engineering and Biotechnology, Trieste, Italy; British Heart Foundation Centre of Research Excellence, School of Cardiovascular Medicine and Sciences, King's College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Zacchigna+S%22">Zacchigna S</searchLink>; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy; International Center for Genetic Engineering and Biotechnology, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Severini+GM%22">Severini GM</searchLink>; Division of Cardiology, Department of Medicine, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Lenarduzzi+S%22">Lenarduzzi S</searchLink>; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Spedicati+B%22">Spedicati B</searchLink>; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Santin+A%22">Santin A</searchLink>; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Girotto+G%22">Girotto G</searchLink>; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Gasparini+P%22">Gasparini P</searchLink>; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Taylor+MRG%22">Taylor MRG</searchLink>; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Mestroni+L%22">Mestroni L</searchLink>; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Merlo+M%22">Merlo M</searchLink>; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Sinagra+G%22">Sinagra G</searchLink>; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Dal+Ferro+M%22">Dal Ferro M</searchLink>; Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy. Electronic address: matteo.dalferro@asugi.sanita.fvg.it.
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