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Maria-Christina Kotta
Maria-Christina Kotta
Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Istituto
在 auxologico.it 的电子邮件经过验证
标题
引用次数
引用次数
年份
Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy
BM Mayosi, M Fish, G Shaboodien, E Mastantuono, S Kraus, T Wieland, ...
Circulation: Cardiovascular Genetics 10 (2), e001605, 2017
1732017
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry
L Crotti, C Spazzolini, DJ Tester, A Ghidoni, AE Baruteau, BM Beckmann, ...
European heart journal 40 (35), 2964-2975, 2019
1562019
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation
S Castelletti, AS Vischer, P Syrris, L Crotti, C Spazzolini, A Ghidoni, ...
International Journal of Cardiology 249, 268-273, 2017
852017
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
R Walsh, N Lahrouchi, R Tadros, F Kyndt, C Glinge, PG Postema, ...
Genetics in medicine 23 (1), 47-58, 2021
742021
The genetics underlying idiopathic ventricular fibrillation: a special role for catecholaminergic polymorphic ventricular tachycardia?
JT Leinonen, L Crotti, A Djupsjöbacka, S Castelletti, N Junna, A Ghidoni, ...
International Journal of Cardiology 250, 139-145, 2018
462018
Exercise training-induced repolarization abnormalities masquerading as congenital long QT syndrome
F Dagradi, C Spazzolini, S Castelletti, M Pedrazzini, MC Kotta, L Crotti, ...
Circulation 142 (25), 2405-2415, 2020
452020
Calmodulinopathy: a novel, life-threatening clinical entity affecting the young
MC Kotta, L Sala, A Ghidoni, B Badone, C Ronchi, G Parati, A Zaza, ...
Frontiers in cardiovascular medicine 5, 175, 2018
372018
Mutation location and I  Ks regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region
PJ Schwartz, C Moreno, MC Kotta, M Pedrazzini, L Crotti, F Dagradi, ...
European heart journal 42 (46), 4743-4755, 2021
322021
Calmodulinopathy: functional effects of CALM mutations and their relationship with clinical phenotypes
B Badone, C Ronchi, MC Kotta, L Sala, A Ghidoni, L Crotti, A Zaza
Frontiers in Cardiovascular Medicine 5, 176, 2018
312018
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
L Crotti, C Spazzolini, M Nyegaard, MT Overgaard, MC Kotta, F Dagradi, ...
European heart journal 44 (35), 3357-3370, 2023
262023
Cadherin 2-related arrhythmogenic cardiomyopathy: prevalence and clinical features
A Ghidoni, PM Elliott, P Syrris, H Calkins, CA James, DP Judge, B Murray, ...
Circulation: Genomic and Precision Medicine 14 (2), e003097, 2021
252021
Genetics of peripartum cardiomyopathy: current knowledge, future directions and clinical implications
TF Spracklen, G Chakafana, PJ Schwartz, MC Kotta, G Shaboodien, ...
Genes 12 (1), 103, 2021
222021
Abnormal myocardial expression of SAP97 is associated with arrhythmogenic risk
H Musa, CA Marcou, TJ Herron, MA Makara, DJ Tester, RP O’Connell, ...
American Journal of Physiology-Heart and Circulatory Physiology 318 (6 …, 2020
172020
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants
K Kozek, Y Wada, L Sala, I Denjoy, C Egly, MJ O’Neill, T Aiba, W Shimizu, ...
Circulation: Genomic and Precision Medicine 14 (4), e003289, 2021
112021
The role of genetics in primary ventricular fibrillation, inherited channelopathies and cardiomyopathies
L Crotti, MC Kotta
International Journal of Cardiology 237, 45-48, 2017
102017
Novel sodium channel SCN5A mutations in Brugada syndrome patients from Greece
CM Kotta, A Anastasakis, K Gatzoulis, AS Manolis, C Stefanadis
International journal of cardiology 145 (1), 45-48, 2010
92010
Cardiac genetic investigation of sudden infant and early childhood death: a study from victims to families
MC Kotta, M Torchio, P Bayliss, MC Cohen, O Quarrell, N Wheeldon, ...
Journal of the American Heart Association 12 (17), e029100, 2023
72023
Sudden infant death syndrome and genetics: don’t throw out the infant with the dirty water
PJ Schwartz, MC Kotta
Journal of the American College of Cardiology 71 (11), 1228-1230, 2018
72018
Cardiac ion channel gene mutations in Greek long QT syndrome patients
CM Kotta, A Anastasakis, K Gatzoulis, J Papagiannis, P Geleris, ...
Journal of applied genetics 51, 515-518, 2010
72010
Phenotype reveals genotype in a Greek long QT syndrome family
A Anastasakis, CM Kotta, S Kyriakogonas, B Wollnik, A Theopistou, ...
Europace 8 (4), 241-244, 2006
72006
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