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المؤلفون: Eyal Nof, Fernando E.S. Cruz, Victor Expósito-García, Luciana Sacilotto, Andrea Mazzanti, Jessica Sánchez-Quiñones, Elżbieta Katarzyna Biernacka, Esther Zorio, Deni Kukavica, Carmen Muñoz-Esparza, Julio Hernandez-Afonso, Elisa Tavazzani, Oscar Campuzano, Asaf Danon, Juan Jiménez-Jáimez, Martín Ortiz, Tekla Chargeishvili, Lorenzo Monserrat, Agnieszka Zienciuk-Krajka, Aristides Anastasakis, Carlo Napolitano, Eleonora Pagan, Maira Marino, Dmitri Guz, Amaya Garcia-Fernandez, Mirella Memmi, Beata Średniawa, Natália Olivetti, Valeria A. Sansone, Rumen Marinov, Georgia Sarquella-Brugada, Maite Izquierdo, Nicola Monteforte, Raffaella Bloise, María Eugenia Fuentes, Irena Andršová, Vincenzo Bagnardi, Silvia G. Priori, Alessandro Trancuccio, Anastasia Garoufi
المساهمون: Mazzanti, A, Guz, D, Trancuccio, A, Pagan, E, Kukavica, D, Chargeishvili, T, Olivetti, N, Biernacka, E, Sacilotto, L, Sarquella-Brugada, G, Campuzano, O, Nof, E, Anastasakis, A, Sansone, V, Jimenez-Jaimez, J, Cruz, F, Sanchez-Quinones, J, Hernandez-Afonso, J, Fuentes, M, Sredniawa, B, Garoufi, A, Andrsova, I, Izquierdo, M, Marinov, R, Danon, A, Exposito-Garcia, V, Garcia-Fernandez, A, Munoz-Esparza, C, Ortiz, M, Zienciuk-Krajka, A, Tavazzani, E, Monteforte, N, Bloise, R, Marino, M, Memmi, M, Napolitano, C, Zorio, E, Monserrat, L, Bagnardi, V, Priori, S
المصدر: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicanteمصطلحات موضوعية: Male, Databases, Factual, Amiodarone, 030204 cardiovascular system & hematology, Sudden cardiac death, Electrocardiography, 0302 clinical medicine, Interquartile range, genetics, 030212 general & internal medicine, Child, sudden cardiac death, genetics, inherited arrhythmias, KCNJ2, life-threatening arrhythmic events, Andersen Syndrome, Muscle Weakness, Hazard ratio, Middle Aged, 3. Good health, Defibrillators, Implantable, Natural history, Child, Preschool, Risk stratification, Cohort, Female, Cardiology and Cardiovascular Medicine, Anti-Arrhythmia Agents, inherited arrhythmias, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Adrenergic beta-Antagonists, Risk Assessment, sudden cardiac death, Syncope, life- threatening arrhythmic events, 03 medical and health sciences, Young Adult, Andersen–Tawil syndrome, Internal medicine, medicine, Humans, Genetic Testing, KCNJ2, Potassium Channels, Inwardly Rectifying, KCNJ2, genetics, inherited arrhythmias, life-threatening arrhythmic events, sudden cardiac death, business.industry, Infant, Arrhythmias, Cardiac, medicine.disease, life-threatening arrhythmic events, Death, Sudden, Cardiac, Mutation, Tachycardia, Ventricular, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95db8f14bf6650a4244ac62d01a83ee2Test
https://pubmed.ncbi.nlm.nih.gov/32299590Test -
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المؤلفون: Federica Ricci, Enrica Rolle, Elena S. Mazzone, Eugenio Mercuri, Anna Mayhew, Valeria A. Sansone, Giovanni Baranello, Claudia Brogna, Antonella Pini, Adele D'Amico, Giulia Colia, Lavinia Fanelli, Luca Bello, Roberto De Sanctis, Tiziana Mongini, Nicola Forcina, Elena Pegoraro, Michela Catteruccia, Maria Grazia D'Angelo, Roberta Battini, Maria Pia Sormani, Claudio Bruno, Riccardo Zanin, Silvia Frosini, Valentina Lanzillotta, Alice Gardani, Emilio Albamonte, Filippo Cavallaro, Giorgia Coratti, Angela Berardinelli, Andrea Barp, Luisa Politano, Marika Pane, Marianna Scutifero, Sonia Messina, Giulia Monaco, Gian Luca Vita, Roberta Petillo, Enrico Bertini
المساهمون: Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Mazzone, Elena Stacy, Mayhew, Anna, Fanelli, Lavinia, Messina, Sonia, Amico, Adele D, Catteruccia, Michela, Scutifero, Marianna, Frosini, Silvia, Lanzillotta, Valentina, Colia, Giulia, Cavallaro, Filippo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Petillo, Roberta, Barp, Andrea, Gardani, Alice, Pini, Antonella, Monaco, Giulia, Angelo, Maria Grazia D, Zanin, Riccardo, Vita, Gian Luca, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Pegoraro, Elena, Bello, Luca, Berardinelli, Angela, Battini, Roberta, Sansone, Valeria, Albamonte, Emilio, Baranello, Giovanni, Bertini, Enrico, Politano, Luisa, Sormani, Maria Pia, Mercuri, Eugenio
المصدر: PLoS ONE
PLoS ONE, Vol 13, Iss 6, p e0199223 (2018)مصطلحات موضوعية: Male, Genetics and Molecular Biology (all), 030506 rehabilitation, Heredity, Psychometrics, Physiology, Genetic Linkage, Duchenne muscular dystrophy, lcsh:Medicine, Social Sciences, Walking, Duchenne Muscular Dystrophy, Biochemistry, Muscular Dystrophies, 0302 clinical medicine, Biochemistry, Genetics and Molecular Biology (all), Agricultural and Biological Sciences (all), Medicine and Health Sciences, Psychology, Muscular Dystrophy, Longitudinal Studies, Muscular dystrophy, lcsh:Science, Child, Musculoskeletal System, upper limb power function, Multidisciplinary, Organic Compounds, 3. Good health, Chemistry, medicine.anatomical_structure, Data Acquisition, Neurology, X-Linked Traits, Sex Linkage, Ambulatory, Physical Sciences, Disease Progression, Upper limb, Steroids, Anatomy, 0305 other medical science, Research Article, medicine.medical_specialty, Computer and Information Sciences, Drug Research and Development, Monitoring, Adolescent, Shoulders, Longitudinal data, Monitoring, Ambulatory, Patient Advocacy, Research and Analysis Methods, Upper Extremity, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Humans, Muscular Dystrophy, Duchenne, medicine, Genetics, Clinical Trials, Clinical Genetics, Pharmacology, business.industry, Biological Locomotion, lcsh:R, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, medicine.disease, Duchenne, Clinical trial, Health Care, Physical therapy, lcsh:Q, Clinical Medicine, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d00f12468e810153ddb99721454c140Test
http://hdl.handle.net/11567/925037Test -
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المؤلفون: Valeria A. Sansone, Giacomo P. Comi, Francesca Magri, Sabrina Lucchiari, Nereo Bresolin, Stefania Corti, Gianna Ulzi
المصدر: Molecular Biology Reports. 41:2865-2874
مصطلحات موضوعية: Adult, Male, Adolescent, Myotonia Congenita, RNA Splicing, DNA Mutational Analysis, Neuromuscular transmission, In Vitro Techniques, Young Adult, Exon, Chloride Channels, Gene Order, Genetics, Humans, Child, Molecular Biology, Gene, Alleles, CLCN1, biology, Intron, General Medicine, Molecular biology, genomic DNA, Mutation, RNA splicing, biology.protein, Female, RNA Splice Sites, Minigene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24a544ce2a4e77ab2bc7e8da6da5418aTest
https://doi.org/10.1007/s11033-014-3142-5Test -
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المؤلفون: Valeria A. Sansone, Eleonora Corti, Marzia Lecchi, Francesca Magri, Domenica Saccomanno, Stefania Corti, Monika Raimondi, Giacomo P. Comi, Enzo Wanke, Giovanni Meola, Grazia D'Angelo, Elisa Redaelli, Sabrina Lucchiari, Anna Modoni, Gianna Ulzi, Serena Pagliarani, Nereo Bresolin
المساهمون: Ulzi, G, Lecchi, M, Sansone, V, Redaelli, E, Corti, E, Saccomanno, D, Pagliarani, S, Corti, S, Magri, F, Raimondi, M, D'Angelo, G, Modoni, A, Bresolin, N, Meola, G, Wanke, E, Comi, G, Lucchiari, S
مصطلحات موضوعية: Adult, Male, Patch-Clamp Techniques, Adolescent, Myotonia Congenita, Mutation, Missense, Muscle disorder, Cell Line, Young Adult, Channelopathy, Chloride Channels, BIO/09 - FISIOLOGIA, medicine, Humans, Repolarization, Genetic Predisposition to Disease, Child, Aged, Genetics, CLCN1, biology, Myotonia congenita, Cell Membrane, Electric Conductivity, Skeletal muscle, Middle Aged, medicine.disease, Molecular biology, Resting potential, Muscle relaxation, medicine.anatomical_structure, Italy, Neurology, biology.protein, Female, Neurology (clinical), Skeletal muscle, Channelopathy, CLCN1 gene, Myotonia congenita, Thomsen's disease, Becker's generalized myotonia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::694d5e2eb0c92a0d15a0920cb68d6a8bTest
http://hdl.handle.net/10281/32847Test