المؤلفون: Maria‐Christina Kotta, Margherita Torchio, Pauline Bayliss, Marta C. Cohen, Oliver Quarrell, Nigel Wheeldon, Tamás Marton, Davide Gentilini, Lia Crotti, Robert C. Coombs, Peter J. Schwartz

المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 17 (2023)

مصطلحات موضوعية: channelopathies, molecular autopsy, sudden infant death syndrome, sudden unexplained death in childhood, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2047-9980

URL الوصول: https://doaj.org/article/102c7a9be9044ef886eacefc2c289958

المؤلفون: Maria-Christina Kotta, Luca Sala, Alice Ghidoni, Beatrice Badone, Carlotta Ronchi, Gianfranco Parati, Antonio Zaza, Lia Crotti

المصدر: Frontiers in Cardiovascular Medicine, Vol 5 (2018)

مصطلحات موضوعية: CALM, calmodulin, long QT syndrome, sudden cardiac death, catecholaminergic polymorphic ventricular tachycardia, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fcvm.2018.00175/full; https://doaj.org/toc/2297-055X

URL الوصول: https://doaj.org/article/8a6e67d033304cccb7e7603dbf7879b7

المؤلفون: Beatrice Badone, Carlotta Ronchi, Maria-Christina Kotta, Luca Sala, Alice Ghidoni, Lia Crotti, Antonio Zaza

المصدر: Frontiers in Cardiovascular Medicine, Vol 5 (2018)

مصطلحات موضوعية: calmodulin mutations, ion channels, repolarization, Ca2+ handling, arrhythmia mechanisms, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fcvm.2018.00176/full; https://doaj.org/toc/2297-055X

URL الوصول: https://doaj.org/article/edc63b4727844da6a63d5c7b7b9c1604

المؤلفون: Timothy F. Spracklen, Graham Chakafana, Peter J. Schwartz, Maria-Christina Kotta, Gasnat Shaboodien, Ntobeko A. B. Ntusi, Karen Sliwa

المصدر: Genes, Vol 12, Iss 1, p 103 (2021)

مصطلحات موضوعية: peripartum cardiomyopathy, genetic cardiomyopathy, heat shock proteins, chaperones, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/1/103; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/1ec4e74e18c94a09b01888d7a73558dd

المؤلفون: Carla Spazzolini, Isabelle Denjoy, Roel L.H.M.G. Spätjens, Peter J. Schwartz, Maria Christina Kotta, Paul A. Brink, Cristina Moreno, Kristina H. Haugaa, Sandrine R.M. Seyen, Maria Shkolnikova, Federica Dagradi, Lia Crotti, Marshall Heradien, Paul G.A. Volders, Silvia Castelletti, Matteo Pedrazzini

المساهمون: Schwartz, P, Moreno, C, Kotta, M, Pedrazzini, M, Crotti, L, Dagradi, F, Castelletti, S, Haugaa, K, Denjoy, I, Shkolnikova, M, Brink, P, Heradien, M, Seyen, S, Spatjens, R, Spazzolini, C, Volders, P, RS: Carim - H04 Arrhythmogenesis and cardiogenetics, Cardiologie, MUMC+: MA Med Staf Spec Cardiologie (9)

المصدر: Eur Heart J
European Heart Journal, 42(46), 4743-4755. Oxford University Press

مصطلحات موضوعية: medicine.medical_specialty, Long QT syndrome, Romano-Ward Syndrome, Mutation, Missense, Fast Track Clinical Research, REQUIREMENT, Stimulation, VARIANTS, medicine.disease_cause, PHENOTYPE, QT interval, Sudden cardiac death, MECHANISMS, chemistry.chemical_compound, Genetic, CHANNEL, Internal medicine, medicine, Clinical endpoint, Genetics, Missense mutation, Humans, Cyclic adenosine monophosphate, Mutation, business.industry, KVLQT1, medicine.disease, GENOTYPE, DOMINANT-NEGATIVE SUPPRESSION, chemistry, KCNQ1 Potassium Channel, Cardiology, GENETIC MODIFIER, Cardiology and Cardiovascular Medicine, business, LANGE-NIELSEN-SYNDROME

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::844d33f416c443ba9630554a3eb61ac2
https://doi.org/10.1093/eurheartj/ehab582

المؤلفون: Dan Ye, Todd J. Herron, Ryan P. O'Connell, Michael J. Ackerman, Silvia Castelletti, Maria Christina Kotta, Charles Antzelevitch, Lia Crotti, Guadalupe Guerrero-Serna, Andre Monteiro da Rocha, Margherita Torchio, Hassan Hussein Musa, Justus M.B. Anumonwo, Michael A. Makara, Peter J. Mohler, Brad Rosinski, Cherisse A. Marcou, Vladislav V. Nesterenko, Michelle L. Milstein, David J. Tester, Federica Dagradi, Peter J. Schwartz

المساهمون: Musa, H, Marcou, C, Herron, T, Makara, M, Tester, D, O'Connell, R, Rosinski, B, Guerrero-Serna, G, Milstein, M, Monteiro Da Rocha, A, Ye, D, Crotti, L, Nesterenko, V, Castelletti, S, Torchio, M, Kotta, M, Dagradi, F, Antzelevitch, C, Mohler, P, Schwartz, P, Ackerman, M, Anumonwo, J

المصدر: Am J Physiol Heart Circ Physiol

مصطلحات موضوعية: Scaffold protein, Physiology, Long QT syndrome, BIO/18 - GENETICA, Biology, arrhythmia, medicine.disease_cause, Afterdepolarization, Discs Large Homolog 1 Protein, Mice, BIO/09 - FISIOLOGIA, Physiology (medical), medicine, Animals, Humans, Myocytes, Cardiac, Sap97, Ion channel, Brugada syndrome, Mice, Knockout, Mutation, Myocardium, Arrhythmias, Cardiac, Heart, Cardiac action potential, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, medicine.disease, Cell biology, ion channel, DLG1, biology.protein, Cardiology and Cardiovascular Medicine, Research Article

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc7367f1cbcd25398921636223a2e5f2
https://doi.org/10.1152/ajpheart.00481.2019

المؤلفون: Krystian, Kozek, Yuko, Wada, Luca, Sala, Isabelle, Denjoy, Christian, Egly, Matthew J, O'Neill, Takeshi, Aiba, Wataru, Shimizu, Naomasa, Makita, Taisuke, Ishikawa, Lia, Crotti, Carla, Spazzolini, Maria-Christina, Kotta, Federica, Dagradi, Silvia, Castelletti, Matteo, Pedrazzini, Massimiliano, Gnecchi, Antoine, Leenhardt, Joe-Elie, Salem, Seiko, Ohno, Yi, Zuo, Andrew M, Glazer, Jonathan D, Mosley, Dan M, Roden, Bjorn C, Knollmann, Jeffrey D, Blume, Fabrice, Extramiana, Peter J, Schwartz, Minoru, Horie, Brett M, Kroncke

المصدر: Circ Genom Precis Med

مصطلحات موضوعية: ERG1 Potassium Channel, Heterozygote, Long QT Syndrome, INDEL Mutation, Mutation, Missense, Humans, Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f027932df3a42415a51e33c8d5e261f4
https://pubmed.ncbi.nlm.nih.gov/34309407

المؤلفون: camilla torlasco, Franco Cecchi, P. J. Schwartz, G. Parati, L. Crotti, federica dagradi, Barbara Bilo, G. Perego, M. Revera, Anna Maria Di Blasio, Maria-Christina Kotta, Alice Ghidoni, Giulia Girardengo, Margherita Calcagnino

المصدر: ScienceOpen Research (2015)

مصطلحات موضوعية: General Works

وصف الملف: electronic resource

Relation: https://www.scienceopen.com/document?vid=dc4d1011-5129-42af-935e-0d5d00039c74; https://doaj.org/toc/2199-1006

URL الوصول: https://doaj.org/article/216f6347c3494809a1dcef6ff8927055

المؤلفون: Christopher Semsarian, Peter J. Schwartz, J. Peter van Tintelen, Robert M. Hamilton, Cristina Basso, Eric Schulze-Bahr, Jiang Ping Song, Richard N.W. Hauer, Elijah R. Behr, Edgar T. Hoorntje, Bongani M. Mayosi, Michael J. Ackerman, Vincent Probst, Lia Crotti, Hugh Calkins, Daniel P. Judge, Cynthia A. James, Jean-Jacques Schott, Brittney Murray, Alice Ghidoni, Kirti Mittal, Perry M. Elliott, Gianfranco Parati, Davide Gentilini, Maria Christina Kotta, Julien Barc, Petros Syrris

المساهمون: Ghidoni, A, Elliott, P, Syrris, P, Calkins, H, James, C, Judge, D, Murray, B, Barc, J, Probst, V, Schott, J, Song, J, Hauer, R, Hoorntje, E, Van Tintelen, J, Schulze-Bahr, E, Hamilton, R, Mittal, K, Semsarian, C, Behr, E, Ackerman, M, Basso, C, Parati, G, Gentilini, D, Kotta, M, Mayosi, B, Schwartz, P, Crotti, L, Cardiovascular Centre (CVC)

المصدر: Circ Genom Precis Med
Circulation-Genomic and precision medicine, 14(2), 159-169. LIPPINCOTT WILLIAMS & WILKINS

مصطلحات موضوعية: 0301 basic medicine, Tachycardia, Adult, Male, medicine.medical_specialty, Adolescent, Cardiomyopathy, Disease, 030204 cardiovascular system & hematology, tachycardia, sudden cardiac death, Sudden cardiac death, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Gene Frequency, Protein Domains, cadherins, cardiomyopathy, mutation, Internal medicine, medicine, Prevalence, Humans, Arrhythmogenic Right Ventricular Dysplasia, Cadherin, business.industry, Genetic Variation, General Medicine, Original Articles, Middle Aged, medicine.disease, Pedigree, 030104 developmental biology, medicine.anatomical_structure, cadherin, Ventricle, Mutation (genetic algorithm), Cardiology, Female, medicine.symptom, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56b0e08e8b3ebeef1d6cf98ec7d21f1d
http://hdl.handle.net/10281/354087

المؤلفون: Matteo Pedrazzini, Maria Christina Kotta, Federica Dagradi, Peter J. Schwartz, Lia Crotti, Silvia Castelletti, Carla Spazzolini

المساهمون: Dagradi, F, Spazzolini, C, Castelletti, S, Pedrazzini, M, Kotta, M, Crotti, L, Schwartz, P

المصدر: Circulation

مصطلحات موضوعية: Male, Sports medicine, genotype, Action Potentials, 030204 cardiovascular system & hematology, 0302 clinical medicine, Heart Rate, Original Research Articles, Child, arrhythmias, cardiac, athletes, electrocardiography, long QT syndrome, sports, sports medicine, 0303 health sciences, biology, medicine.diagnostic_test, Middle Aged, Phenotype, Editorial, Italy, Cardiology, Female, athlete, Cardiology and Cardiovascular Medicine, Adult, medicine.medical_specialty, Adolescent, Long QT syndrome, BIO/18 - GENETICA, 03 medical and health sciences, Young Adult, Predictive Value of Tests, Physiology (medical), Internal medicine, medicine, Repolarization, Humans, Genetic Predisposition to Disease, Genetic Testing, cardiovascular diseases, Diagnostic Errors, Exercise, 030304 developmental biology, Retrospective Studies, Athletes, business.industry, death, sudden, cardiac, Editorials, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, biology.organism_classification, medicine.disease, Congenital long QT syndrome, Electrocardiography, Ambulatory, Exercise Test, business, sport, Electrocardiography

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::710b455a58c313890dfd3737f5eda736
https://zenodo.org/record/4693157