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1
المؤلفون: Sonia Messina, Maria Sframeli, Jacqueline Montes, Simone Morando, John W. Day, Valeria A. Sansone, Matthew Civitello, Laura Antonaci, William B. Martens, Allan M. Glanzman, Enrico Bertini, Annemarie Rohwer, Marika Pane, Eugenio Mercuri, Adele D'Amico, Irene Mizzoni, Claudio Bruno, Katia Patanella, Roberto De Sanctis, Francesco Muntoni, Darryl C. De Vivo, Anna Lia Frongia, Francesca Bovis, Tina Duong, Maria Carmela Pera, Amy Pasternak, Giorgia Coratti, Francesca Salmin, Richard S. Finkel, Mariacristina Scoto, Basil T. Darras, Sally Dunaway Young
المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1622-1634 (2021)مصطلحات موضوعية: 0301 basic medicine, Male, Outcome Assessment, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, 0302 clinical medicine, Outcome Assessment, Health Care, Medicine, Adolescent, Adult, Aged, Child, Child, Preschool, Female, Humans, Longitudinal Studies, Middle Aged, Young Adult, Registries, Research Articles, media_common, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, General Neuroscience, nusinersen, SMA, medicine.anatomical_structure, Cohort, Upper limb, Nusinersen, RC321-571, Research Article, medicine.medical_specialty, media_common.quotation_subject, Neurosciences. Biological psychiatry. Neuropsychiatry, 03 medical and health sciences, Text mining, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Preschool, RC346-429, Selection bias, Adult patients, business.industry, Spinal muscular atrophy, medicine.disease, Health Care, 030104 developmental biology, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce733bf025ec593e1d29dfd1172ba332Test
http://europepmc.org/articles/PMC8351459Test -
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المؤلفون: Valeria A. Sansone, Francesca Bovis, Richard S. Finkel, Maria Carmela Pera, Eugenio Mercuri, Laura Antonaci, Giorgia Coratti, Fabrizia Chieppa, Marika Pane, Marta Ponzano, Costanza Cutrona
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)مصطلحات موضوعية: medicine.medical_specialty, Spinal, Oligonucleotides, Review, Critical review, Nusinersen, Spinal muscular atrophy, Child, Humans, Muscular Atrophy, Spinal, Spinal Muscular Atrophies of Childhood, Motor function, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Pharmacology (medical), Time point, Genetics (clinical), business.industry, General Medicine, SMA, medicine.disease, Muscular Atrophy, Meta-analysis, Medicine, Functional status, business, Real world data
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85a2896e190acd33d257649bc13b1f3dTest
https://doi.org/10.1186/s13023-021-02065-zTest -
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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: Carlo Scialò, Claudia Caponnetto, Paolo Volanti, Nicola Fini, G. Drago Ferrante, Jessica Mandrioli, Gabriele Mora, L. Ferri, Vincenzo Silani, Nilo Riva, Gianni Sorarù, Elisabetta Zucchi, Nicola Ticozzi, Yuri Matteo Falzone, Christian Lunetta, Rosanna Tortelli, Giorgia Querin, Kalliopi Marinou, Amelia Conte, Adriano Chiò, Mario Sabatelli, Andrea Calvo, Valeria A. Sansone, Giandomenico Logroscino, Francesca Trojsi, Sonia Messina, Cristina Moglia, Antonio Fasano, Massimo Russo, M. R. Monsurrò
المصدر: European journal of neurology. 25(6)
مصطلحات موضوعية: Male, medicine.medical_specialty, hypertension, Delayed Diagnosis, Heart disease, Comorbidity, 030204 cardiovascular system & hematology, survival, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, amyotrophic lateral sclerosis, atrial fibrillation, heart diseases, platelet disorders, prognostic factors, medicine, Dementia, Amyotrophic lateral sclerosis, atrial fibrillation, heart diseases, hypertension, platelet disorders, prognostic factors, survival, Neurology, Neurology (clinical), Humans, Amyotrophic lateral sclerosis, Depression (differential diagnoses), Aged, Retrospective Studies, business.industry, Incidence, valvular heart disease, Amyotrophic Lateral Sclerosis, Atrial fibrillation, Middle Aged, medicine.disease, Prognosis, Settore MED/26 - NEUROLOGIA, Cardiovascular Diseases, Disease Progression, Female, Italy, Phenotype, Neurology, Heart failure, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbbced503f431fc3376ab6de0eee8d78Test
https://pubmed.ncbi.nlm.nih.gov/29512869Test -
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المؤلفون: Paolo Magni, Lucio Tremolizzo, Andrea Lizio, Eleonora Maestri, Massimiliano Ruscica, Morlotti, Chiara Macchi, Valeria A. Sansone
المصدر: European Journal of Neurology. 22:484-828
مصطلحات موضوعية: Metabolic state, medicine.medical_specialty, Endocrinology, Neurology, business.industry, Internal medicine, medicine, Neurology (clinical), Amyotrophic lateral sclerosis, medicine.disease, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0a62e2d5feb82c89bcf05a9a1610452aTest
https://doi.org/10.1111/ene.12808Test -
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المؤلفون: Rabi Tawil, Valeria A. Sansone
المصدر: Neurotherapeutics. 4:233-237
مصطلحات موضوعية: Cardiac function curve, medicine.medical_specialty, Neurology, Gating, Biology, medicine.disease_cause, Bioinformatics, Andersen–Tawil syndrome, Internal medicine, medicine, Animals, Humans, Pharmacology (medical), Potassium Channels, Inwardly Rectifying, Muscle, Skeletal, Andersen Syndrome, Pharmacology, Mutation, Skeletal muscle, Heart, Periodic paralysis, medicine.disease, Potassium channel, Disease Models, Animal, medicine.anatomical_structure, Endocrinology, cardiovascular system, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d461453f53f83233b1cc48318d317f77Test
https://doi.org/10.1016/j.nurt.2007.01.005Test -
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المؤلفون: Michael R. Rose, Thera P. Links, M. Panzeri, Valeria A. Sansone, Giovanni Meola
المصدر: The Cochrane Library
Scopus-Elsevierمصطلحات موضوعية: medicine.medical_specialty, Weakness, Neuromuscular disease, Dichlorphenamide, Hypokalemic Periodic Paralysis, GENE SCN4A, Placebo, Hypokalemic periodic paralysis, ACETAZOLAMIDE, Internal medicine, ANDERSEN-TAWIL-SYNDROME, medicine, Paralysis, Humans, Pharmacology (medical), Hyperkalemic periodic paralysis, Carbonic Anhydrase Inhibitors, Randomized Controlled Trials as Topic, business.industry, MUTATIONS, Pinacidil, MUSCLE SODIUM-CHANNEL, Periodic paralysis, PARAMYOTONIA-CONGENITA, medicine.disease, WEAKNESS, Paramyotonia congenita, Physical therapy, medicine.symptom, business, MYOTONIA-CONGENITA, ALPHA-SUBUNIT, Paralysis, Hyperkalemic Periodic, BETA-ADRENERGIC TREATMENT
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9f20c40fe015e30e47f9eb068ae38e9Test
https://hdl.handle.net/11370/f826978a-88d3-4de2-ab1b-7fde7b98f277Test -
8
المصدر: Age and ageing. 36(5)
مصطلحات موضوعية: Aging, medicine.medical_specialty, Intra-Abdominal Fat, Population, Adipose tissue, Overweight, Body Mass Index, Insulin resistance, Risk Factors, Internal medicine, medicine, Dementia, Humans, Cognitive decline, education, education.field_of_study, business.industry, nutritional and metabolic diseases, General Medicine, medicine.disease, Endocrinology, Geriatrics and Gerontology, medicine.symptom, business, Body mass index
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::938985d3c6cfeab00537e3b47aaf998fTest
https://pubmed.ncbi.nlm.nih.gov/17656423Test -
9Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
المؤلفون: Valeria A. Sansone, Hubert Kwieciński, Matthew R. Donaldson, Rabi Tawil, Ying-Hui Fu, Saïd Bendahhou, Anna Fidziańska, Martin Tristani-Firouzi, Judy L. Jensen, Louis J. Ptáček, Giovanni Meola, Nikki M. Plaster, Angelika Hahn
المساهمون: Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2002, xxx, pp.381-388مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, medicine.medical_specialty, Andersen Syndrome, Adolescent, Long QT syndrome, 030204 cardiovascular system & hematology, medicine.disease_cause, Article, Paralyses, Familial Periodic, Sudden cardiac death, 03 medical and health sciences, 0302 clinical medicine, Andersen–Tawil syndrome, Internal medicine, medicine, Animals, Humans, cardiovascular diseases, Potassium Channels, Inwardly Rectifying, Child, 030304 developmental biology, 0303 health sciences, Mutation, business.industry, Kir2.1, Arrhythmias, Cardiac, Heart, Periodic paralysis, Cardiac action potential, Syndrome, General Medicine, Middle Aged, medicine.disease, 3. Good health, Electrophysiology, Long QT Syndrome, Endocrinology, cardiovascular system, Cardiology, Female, Rabbits, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f833d9ebf0d4c4c93da7fbd053af2cTest
https://hal.archives-ouvertes.fr/hal-00091062Test -
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المؤلفون: M. Panzeri, Francesco Sardanelli, Guido De Ambroggi, A. Zanolini, Riccardo Cappato, Luigi De Ambroggi, Valeria A. Sansone, Giovanni Meola
المصدر: Europace. 11:1243-1244
مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Long term follow up, Resuscitation, Population, Myotonic dystrophy, Sudden cardiac death, Recurrence, Physiology (medical), Internal medicine, Humans, Myotonic Dystrophy, Medicine, education, education.field_of_study, business.industry, Incidence (epidemiology), medicine.disease, Heart Arrest, Treatment Outcome, Ventricular Fibrillation, Ventricular fibrillation, cardiovascular system, Cardiology, Cardiology and Cardiovascular Medicine, business, Resuscitated Cardiac Arrest, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ffb60e9656590ac8d1f8823402269d2Test
https://doi.org/10.1093/europace/eup155Test