换一批
换一批Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
作者：
Lia,Crotti [1]
;
Carla,Spazzolini [2]
;
David J,Tester [3]
;
Alice,Ghidoni [4]
;
Alban-Elouen,Baruteau [5]
;
Britt-Maria,Beckmann [1]
;
Elijah R,Behr [5]
;
Jeffrey S,Bennett [6]
;
Connie R,Bezzina [7]
;
Zahurul A,Bhuiyan [8]
;
Alpay,Celiker [1]
;
Marina,Cerrone [2]
;
Federica,Dagradi [5]
;
Gaetano M,De Ferrari [5]
;
Susan P,Etheridge [9]
;
Meena,Fatah [10]
;
Pablo,Garcia-Pavia [11]
;
Saleh,Al-Ghamdi [5]
;
Robert M,Hamilton [10]
;
Zuhair N,Al-Hassnan [12]
;
Minoru,Horie [5]
;
Juan,Jimenez-Jaimez [13]
;
Ronald J,Kanter [14]
;
Juan P,Kaski [15]
;
Maria-Christina,Kotta [16]
;
Najim,Lahrouchi [1]
;
Naomasa,Makita [5]
;
Gabrielle,Norrish [17]
;
Hans H,Odland [18]
;
Seiko,Ohno [19]
;
John,Papagiannis [20]
;
Gianfranco,Parati [5]
;
Nicole,Sekarski [21]
;
Kristian,Tveten [22]
;
Matteo,Vatta [23]
;
Gregory,Webster [20]
;
Arthur A M,Wilde [24]
;
Julianne,Wojciak [25]
;
Alfred L,George [26]
;
Michael J,Ackerman [27]
;
Peter J,Schwartz [5]
作者单位：
Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin, Milan, Italy.
[1]
Istituto Auxologico Italiano, IRCCS, Laboratory of Cardiovascular Genetics, Milan, Italy.
[2]
Istituto Auxologico Italiano, IRCCS, Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, Milan, Italy.
[3]
Department of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy.
[4]
Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart.
[5]
Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
[6]
Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA.
[7]
Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology & Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA.
[8]
L'Institut du Thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France.
[9]
Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK.
[10]
Department of Medicine I, Klinikum Grosshadern, Ludwig-Maximilians University, Munich, Germany.
[11]
The Heart Center, Nationwide Children's Hospital, Columbus, OH, USA.
[12]
Amsterdam UMC, University of Amsterdam, Heart Center; Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.
[13]
Unité de Recherche Cardiogénétique, Service de Médecine Génétique, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
[14]
Department of Pediatric Cardiology, Koc University School of Medicine, Istanbul, Turkey.
[15]
Cardiovascular Genetics Program, Leon H. Charney Division of Cardiology, New York University School of Medicine, New York, NY, USA.
[16]
Division of Cardiology, "Città della Salute e della Scienza di Torino" Hospital, Department of Medical Sciences, University of Turin, Italy.
[17]
PhD Program in Translational Medicine, Department of Molecular Medicine, University of Pavia, Pavia, Italy.
[18]
Division of Pediatric Cardiology, Department of Pediatrics, University of Utah and Primary Children's Hospital, Salt Lake City, UT, USA.
[19]
The Labatt Family Heart Centre and Pediatrics (Cardiology), The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
[20]
Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, CIBERCV, Madrid, Spain.
[21]
University Francisco de Vitoria (UFV), Pozuelo de Alarcon, Spain.
[22]
Cardiac Sciences Department, Section of Pediatric Cardiology, King Abdulaziz Cardiac Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
[23]
Cardiovascular Genetic Program, Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
[24]
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Japan.
[25]
Cardiology Department, Virgen de las Nieves University Hospital, Granada, Spain.
[26]
Nicklaus Children's Hospital Miami, Miami, FL, USA.
[27]
Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, UK.
[28]
Institute of Cardiovascular Science, University College London, London, UK.
[29]
National Cerebral and Cardiovascular Center, Research Institute and Omics Research Center, Osaka, Japan.
[30]
Department of Pediatric Cardiology, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
[31]
Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.
[32]
Division of Cardiology, Children's Mercy Hospital, Kansas City, MO, USA.
[33]
Paediatric Cardiology Unit, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
[34]
Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
[35]
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
[36]
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
[37]
Invitae Corporation, San Francisco, CA, USA.
[38]
Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
[39]
Department of Genomic Medicine, University of California San Francisco (UCSF), San Francisco, CA, USA.
[40]
Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
[41]
主题词
发病年龄(Age of Onset);心律失常, 心性(Arrhythmias, Cardiac);钙调蛋白(Calmodulin);儿童(Child);儿童, 学龄前(Child, Preschool);DNA突变分析(DNA Mutational Analysis);猝死, 心脏(Death, Sudden, Cardiac);女(雌)性(Female);遗传变异(Genetic Variation);人类(Humans);QT延长综合征(Long QT Syndrome);表型(Phenotype);登记(Registries);存活率(Survival Rate);心动过速, 室性(Tachycardia, Ventricular)
DOI
10.1093/eurheartj/ehz311
PMID
31170290
发布时间
2021-05-03
- 浏览0
European heart journal
European heart journal
2964-2975页
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