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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, Matthew Civitello, Mariacristina Scoto, Adele D'Amico, Emilio Albamonte, Irene Mizzoni, Anna Lia Frongia, Maria Carmela Pera, Basil T. Darras, John W. Day, Amy Pasternak, Francesca Bovis, Sally Dunaway Young, Giorgia Coratti, Laura Antonaci, Eugenio Mercuri, Maria Sframeli, Tina Duong, Claudio Bruno, Annemarie Rohwer, Jacqueline Montes, Richard S. Finkel, Marika Pane, Darryl C. De Vivo, Enrico Bertini, Giovanni Baranello, Evelin Milev, Roberto De Sanctis, Francesco Muntoni, Sonia Messina, Allan M. Glanzman, Elena S. Mazzone, Massimo Russo
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Spinal, Natural history, Spinal Muscular Atrophies of Childhood, Outcome measures, Cohort Studies, Muscular Atrophy, Spinal, Upper Extremity, Neuromuscular disorders, Revised upper limb module, Spinal muscular atrophy, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Humans, Child, Child, Preschool, Disease Progression, Female, Longitudinal Studies, Middle Aged, Preschool, Genetics (clinical), business.industry, SMA, medicine.disease, Relative stability, Large cohort, Settore MED/26 - NEUROLOGIA, Muscular Atrophy, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Cardiology, Upper limb, Neurology (clinical), business, Real world data
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::862b23e9e6b08e24fee4b1754d6d00fcTest
http://hdl.handle.net/10807/197786Test -
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المؤلفون: Michael Hunter, Elizabeth Luebbe, Christine Zizzi, Craig M. Zaidman, Emma Ciafaloni, Valeria A. Sansone, Nicholas E. Johnson, Phillip Mongiovi, Nuran Dilek, Connie Garland, Chad Heatwole, Michael P. McDermott, John T. Kissel
المصدر: MusclenerveREFERENCES. 63(6)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Physiology, Intraclass correlation, Disease, 030105 genetics & heredity, Severity of Illness Index, Muscular Atrophy, Spinal, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Cronbach's alpha, Quality of life, Physiology (medical), medicine, Humans, Patient Reported Outcome Measures, Disease burden, Reliability (statistics), Aged, business.industry, Spinal muscular atrophy, Middle Aged, SMA, medicine.disease, Cross-Sectional Studies, Physical therapy, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4ce4d21813b3a9799551b1f25d815d3Test
https://pubmed.ncbi.nlm.nih.gov/33711174Test -
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المؤلفون: Emilio Albamonte, Adele D'Amico, Sonia Messina, Valeria A. Sansone, Luca Mauro, Susanna Pozzi, Maria Carmela Pera, Marika Pane, Andrea Lizio, Enrico Bertini, Cristina Italiano, Claudio Bruno, Lucia Greco, Giorgia Coratti, Christine Zizzi, Alice Pirola, Maria Sframeli, Claudia Stancanelli, Chad Heatwole, Francesca Salmin, Jacopo Casiraghi, Eugenio Mercuri, Marina Pedemonte
مصطلحات موضوعية: 0301 basic medicine, Male, Severity of Illness Index, Internal validity, Cohort Studies, 0302 clinical medicine, Cost of Illness, Surveys and Questionnaires, Medicine, Child, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Middle Aged, SMA, Muscular Atrophy, medicine.anatomical_structure, Test-retest reliability, Neurology, Italy, Cohort, Upper limb, Spinal muscular atrophy health index, Patient-reported outcome, Female, Adult, medicine.medical_specialty, Adolescent, Spinal, Muscular Atrophy, Spinal, 03 medical and health sciences, Patient-reported outcomes, Spinal muscular atrophy, Humans, Quality of Life, Reproducibility of Results, Translations, Patient Reported Outcome Measures, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Cronbach's alpha, Disease burden, business.industry, medicine.disease, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Physical therapy, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f7d219115205388497280afb4c47d6aTest
http://hdl.handle.net/10807/182752Test -
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المؤلفون: Valeria A. Sansone, Claudia Brogna, Giacomo P. Comi, Tommaso Verdolotti, Anna Pichiecchio, Emilio Albamonte, Marika Pane, Giovanni Antonini, Angela Berardinelli, Luana Ficociello, Giorgio Tasca, Claudia Cinnante, Lara Cristiano, Maria Carmela Pera, Laura Antonaci, Eugenio Mercuri, Chiara Begliuomini, Cesare Colosimo, Alessandra Govoni, Matteo Garibaldi, Tommaso Tartaglione, Luca Maria Sconfienza, Lorenzo Maggi
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neurology, Adolescent, Thigh, Spinal Muscular Atrophies of Childhood, Fatty infiltration, Muscular Atrophy, Spinal, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Atrophy, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, 030212 general & internal medicine, Prospective Studies, Child, Muscle, Skeletal, Magnetic Resonance Imaging, Muscle atrophy, Spinal muscular atrophy, Pelvis, Neuroradiology, Adiposity, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Anatomy, Middle Aged, medicine.disease, medicine.anatomical_structure, Child, Preschool, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d98bab2c3eaf3c5d420d2bbdeba6419Test
http://hdl.handle.net/10807/153584Test -
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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 -
7
المؤلفون: G. Meola, Simona Villani, Francesco Bandera, Valeria A. Sansone, L. De Ambroggi, Elisa Brigonzi, G. De Ambroggi, Maddalena Gaeta, Benedikt Schoser
المصدر: International Journal of Cardiology. 168:1147-1153
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Time Factors, Adolescent, Myotonic dystrophy type 2, Severity of Illness Index, Sudden cardiac death, Cohort Studies, Young Adult, 2d echocardiography, Germany, Internal medicine, medicine, Long term outcomes, Humans, Myotonic Dystrophy, Muscle Strength, Aged, Aged, 80 and over, Muscle Weakness, business.industry, Muscle weakness, Arrhythmias, Cardiac, Middle Aged, medicine.disease, Patient population, Treatment Outcome, Italy, Cardiology, Muscle strength, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, business, Holter monitoring, Follow-Up Studies, Myotonic Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12421436d5803626c975241f51e558e2Test
https://doi.org/10.1016/j.ijcard.2012.11.076Test -
8Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2
المؤلفون: Olayinka Raheem, Laura Valentina Renna, Fabrizio Rinaldi, Annalisa Botta, Enrico Bugiardini, Bjarne Udd, Giovanni Meola, Valeria A. Sansone, Giuseppe Novelli, Rosanna Cardani, Sini Penttilä, Alessandra Morgante, M. Giagnacovo, Tiina Suominen
المصدر: Journal of Neurology. 259:2090-2099
مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Biology, medicine.disease_cause, Fluorescence, chemistry.chemical_compound, Chloride Channels, Internal medicine, medicine, Myotonic Dystrophy, Humans, MBNL1, Age of Onset, Muscular dystrophy, Muscle, Skeletal, Southern, In Situ Hybridization, Fluorescence, In Situ Hybridization, Southern blot, Mutation, CLCN1, medicine.diagnostic_test, Reverse Transcriptase Polymerase Chain Reaction, Blotting, Myotonia congenita, RNA-Binding Proteins, Skeletal, Middle Aged, medicine.disease, Myotonia, Myotonic Disorders, Blotting, Southern, Immunohistochemistry, Female, Endocrinology, Settore MED/03 - Genetica Medica, Neurology, chemistry, biology.protein, Muscle, Neurology (clinical), Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85876aef4afc8bb8fe0cdc0a6d64db13Test
https://doi.org/10.1007/s00415-012-6462-1Test -
9
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 -
10Functional 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