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

المؤلفون: Matteo Spanetta, Annalisa Rubino, Lino Nobili, Giulia Greco, Valeria A. Sansone, Federica Cattaneo, Roberto Massa, Luca Mauro, Paola Proserpio, Erica Frezza, Nicola Biagio Mercuri, Mariana Fernandes, Andrea Romigi, Fabio Placidi, Claudio Liguori, Francesca Izzi, Elio Agostoni

مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Excessive daytime sleepiness, Delayed sleep-wake cycle, Documentation, Disorders of Excessive Somnolence, Settore MED/26, Myotonic dystrophy, Rhythm, Internal medicine, medicine, Humans, Myotonic Dystrophy, Actigraphy, Chronotype, Circadian rhythm, business.industry, General Medicine, medicine.disease, Sleep in non-human animals, Circadian Rhythm, Cardiology, Sleep diary, medicine.symptom, business, Sleep

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfbef0f0fc9b34574653c42c5c28c3fbTest
http://hdl.handle.net/2108/285987Test

المؤلفون: Andrea Vianello, Francesca Magri, Luca Bello, Valeria A. Sansone, Tiziana Mongini, Eugenio Mercuri, Marina Pedemonte, S. Gandossini, Riccardo Masson, Marika Pane, Antonella Pini, Heather Gordish-Dressman, Sara Vianello, Adele D'Amico, Stefano C. Previtali, Aurora Fusto, Matteo Villa, Giacomo P. Comi, Claudio Bruno, Craig M. McDonald, Valentina Lanzillotta, Guja Astrea, Gian Luca Vita, Paola Tacchetti, Daniele Sabbatini, Luisa Politano, Enrico Bertini, Angela Berardinelli, Eric P. Hoffman, Andrea Barp, Lauren P. Morgenroth, Grazia D'Angelo, Beatrice Merlo, Federica Trucco, Sonia Messina, Elisa De Mattia, Emilio Albamonte, Fabrizio Rao, Giovanni Baranello, Elena Pegoraro

المساهمون: Bello, L., D'Angelo, G., Villa, M., Fusto, A., Vianello, S., Merlo, B., Sabbatini, D., Barp, A., Gandossini, S., Magri, F., Comi, G. P., Pedemonte, M., Tacchetti, P., Lanzillotta, V., Trucco, F., D'Amico, A., Bertini, E., Astrea, G., Politano, L., Masson, R., Baranello, G., Albamonte, E., De Mattia, E., Rao, F., Sansone, V. A., Previtali, S., Messina, S., Vita, G. L., Berardinelli, A., Mongini, T., Pini, A., Pane, M., Mercuri, E., Vianello, A., Bruno, C., Hoffman, E. P., Morgenroth, L., Gordish-Dressman, H., Mcdonald, C. M., Pegoraro, E.

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 786-798 (2020)
Annals of Clinical and Translational Neurology

مصطلحات موضوعية: 0301 basic medicine, Male, Vital capacity, Duchenne muscular dystrophy, Vital Capacity, Gene mutation, Pulmonary function testing, Dystrophin, 0302 clinical medicine, Medicine, Respiratory function, Muscular Dystrophy, Child, Research Articles, General Neuroscience, Respiratory Function Tests, Child, Preschool, Cardiology, medicine.symptom, Respiratory Insufficiency, Research Article, RC321-571, Adult, medicine.medical_specialty, Adolescent, CD40 Antigens, Follow-Up Studies, Glucocorticoids, Humans, Muscular Dystrophy, Duchenne, Osteopontin, Retrospective Studies, Young Adult, Nonsense mutation, Neurosciences. Biological psychiatry. Neuropsychiatry, 03 medical and health sciences, FEV1/FVC ratio, Internal medicine, RC346-429, Preschool, business.industry, Muscle weakness, medicine.disease, Duchenne, 030104 developmental biology, Duchenne Muscular Dystrophy, Respiratory funcion, FVC, genetic modifiers, Neurology. Diseases of the nervous system, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91aab73f31387b267af70819a635b2b6Test
http://hdl.handle.net/11591/437225Test

المؤلفون: Claudio Bruno, Grazia D'Angelo, Angela Berardinelli, Eugenio Mercuri, Luca Bello, Eric P. Hoffman, Valeria A. Sansone, L. Politano, G. Comi, Stefano C. Previtali, Gianluca Vita, Andrea Vianello, C. McDonald, C. Calore, T. Mongini, Alessandra D'Amico, Antonella Pini, Guja Astrea, Giovanni Baranello, Elena Pegoraro

المصدر: Neuromuscular Disorders. 29:S145

مصطلحات موضوعية: Cardiac function curve, medicine.medical_specialty, business.industry, Duchenne muscular dystrophy, medicine.disease, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, Cardiology, Medicine, Neurology (clinical), Respiratory system, business, Genetics (clinical), Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a07c831ed70a983e2279bec18c67d4a0Test
https://doi.org/10.1016/j.nmd.2019.06.381Test

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

المؤلفون: Valeria A. Sansone, Giovanni Meola

المصدر: Europe PubMed Central

مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Weakness, Potassium Channels, Genetic Linkage, Biopsy, DNA Mutational Analysis, Myotonic Disorder, Myotonic dystrophy type 2, Myotonic dystrophy, Ion Channels, Sodium Channels, Myotonia, Paralyses, Familial Periodic, Chloride Channels, Internal medicine, medicine, Humans, Myotonic Dystrophy, Muscle, Skeletal, business.industry, Muscle weakness, Periodic paralysis, DNA, medicine.disease, Surgery, body regions, Thyrotoxicosis, Neurology, Cardiology, Treatment strategy, Calcium Channels, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c79e1164d21b1a0ca1522f106fe86ea6Test
https://doi.org/10.1016/s0035-3787Test(04)71007-3

المؤلفون: Richard T. Moxley, Maria Cotelli, Charles A. Thornton, Giovanni Meola, L. De Ambroggi, K. Marinou, Valeria A. Sansone

المصدر: Journal of the Neurological Sciences. 193:89-96

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Cardiac conduction disturbances, Heart disease, Myotonic dystrophy, Proximal myotonic myopathy, Electrocardiography, Heart Conduction System, Internal medicine, Humans, Myotonic Dystrophy, Medicine, Muscle Weakness, medicine.diagnostic_test, business.industry, Muscle weakness, Arrhythmias, Cardiac, Middle Aged, Right bundle branch block, Prognosis, medicine.disease, Myotonia, Surgery, Neurology, Echocardiography, Disease Progression, Cardiology, Female, Neurology (clinical), medicine.symptom, business, Myotonic Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8b47324d52afe4d96c4237afc3f447dTest
https://doi.org/10.1016/s0022-510xTest(01)00649-9

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.381-388

مصطلحات 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

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