متابعة
Maria-Christina Kotta
Maria-Christina Kotta
Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Istituto
بريد إلكتروني تم التحقق منه على auxologico.it
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
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
1782017
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
1712019
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
892017
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
822021
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
492018
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
482020
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
392018
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
372023
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
362021
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
352018
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
302021
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
272021
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
182020
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
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
102023
The role of genetics in primary ventricular fibrillation, inherited channelopathies and cardiomyopathies
L Crotti, MC Kotta
International Journal of Cardiology 237, 45-48, 2017
92017
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
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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مقالات 1–20