المؤلفون: Anne-Marie Childs, Robert Muni Lofra, Min Ong, Eugenio Mercuri, Chiara Marini-Bettolo, Richard S. Finkel, Giorgia Coratti, Federica Trucco, Elizabeth A. Kichula, Adele D'Amico, Valeria A. Sansone, Francesco Muntoni, Mariacristina Scoto, Aledie A. Navas Nazario, Tracey Willis, Darryl C. De Vivo, Marika Pane, J. Day, Marion Main, Vasantha Gowda, Oscar H. Mayer, Claudio Bruno, A. Mayhew, Deepak Parasuraman, Emilio Albamonte, Sonia Messina, Jacqueline Montes, Basil T. Darras, Deborah Ridout, Enrico Bertini

المصدر: Neurology
article-version (Version of Record) 3

مصطلحات موضوعية: Male, Vital capacity, medicine.medical_specialty, Internationality, Adolescent, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Scoliosis, Spinal Muscular Atrophies of Childhood, Article, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Humans, Medicine, Respiratory function, Child, Retrospective Studies, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Retrospective cohort study, Respiration Disorders, SMA, medicine.disease, 030228 respiratory system, Female, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca983988c6c9fb647b81bac43f2cb61Test
https://doi.org/10.1212/wnl.0000000000011051Test

المؤلفون: Sonia Messina, Claudio Bruno, E. Mazzone, Eugenio Mercuri, Valeria A. Sansone, Claudia Brogna, Gianluca Vita, Francesco Muntoni, Marika Pane, Tiziana Mongini, Giovanni Baranello, Erik H. Niks, Mary Chesshyre, Francesca Magri, Volker Straub, Enrico Bertini, Elena Pegoraro, Luca Bello, Alice Donati, Silvana De Lucia, Stefano C. Previtali, Valeria Ricotti, Adele D'Amico, Jean-Yves Hogrel, Nathalie Goemans, Roberta Battini, Giacomo P. Comi, Laurent Servais, Giorgia Coratti, Federica Ricci, Imelda J. M. de Groot, Luisa Politano, Angela Berardinelli

المصدر: PLoS ONE, 16(6). PUBLIC LIBRARY SCIENCE
PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)

مصطلحات موضوعية: Male, Heredity, Genetic Linkage, Epidemiology, Physiology, Duchenne muscular dystrophy, Walking, Duchenne Muscular Dystrophy, Severity of Illness Index, Muscular Dystrophies, Dystrophin, Exon, 0302 clinical medicine, Medical Conditions, Medicine and Health Sciences, 030212 general & internal medicine, Muscular Dystrophy, Longitudinal Studies, Child, Baseline values, Multidisciplinary, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Organic Compounds, Men, Exons, Multidisciplinary Sciences, Chemistry, Deletion Mutation, Neurology, X-Linked Traits, Sex Linkage, Ambulatory, Physical Sciences, Disease Progression, Medicine, Science & Technology - Other Topics, Steroids, exon skipping, Research Article, medicine.medical_specialty, Science, Natural history of disease, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Genetics, Humans, Clinical Genetics, Science & Technology, business.industry, Biological Locomotion, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Human Genetics, medicine.disease, Duchenne, Human genetics, Exon skipping, Follow-Up Studies, Muscular Dystrophy, Duchenne, Mutation, Clinical trial, Natural History of Disease, Medical Risk Factors, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf; Electronic-eCollection

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de7208ef0a5c3984e1eb8d2853199ed7Test
http://hdl.handle.net/1887/3249481Test

المؤلفون: Valeria A. Sansone, Giorgia Brigati, Adele D'Amico, Eugenio Mercuri, Daniela Leone, Emilio Albamonte, Maria Sframeli, Chiara Bravetti, Beatrice Berti, Sonia Messina, Concetta Palermo, Francesco Danilo Tiziano, Giorgia Coratti, Claudio Bruno, Francesca Salmin, Michela Catteruccia, Marco Piastra, Maria Carmela Pera, Gianluca Vita, Marika Pane, Paola Tacchetti, Marina Pedemonte, Enrico Bertini, Roberto De Sanctis, Simona Lucibello, Orazio Genovese

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 548-557 (2021)
Annals of Clinical and Translational Neurology

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Adolescent, Outcome Assessment, Oligonucleotides, Neurological examination, Neurosciences. Biological psychiatry. Neuropsychiatry, CHOP, Spinal Muscular Atrophies of Childhood, Settore MED/03 - GENETICA MEDICA, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Outcome Assessment, Health Care, medicine, Humans, RC346-429, Child, Preschool, Research Articles, spinal muscular atrophy, medicine.diagnostic_test, business.industry, General Neuroscience, Child, Preschool, Follow-Up Studies, Infant, Survival of Motor Neuron 2 Protein, Repeated measures design, Spinal muscular atrophy, medicine.disease, SMA, Natural history, Health Care, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Long term data, Nusinersen, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery, Research Article, RC321-571

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e14061f27a5a65a5c95aae2d46ace23Test
http://hdl.handle.net/11570/3220978Test

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: Michela Catteruccia, Giuseppe Vita, Eugenio Mercuri, Chiara Bravetti, Beatrice Berti, Sonia Messina, Paola Tacchetti, Adele D'Amico, Valeria A. Sansone, Marco Piastra, Marina Pedemonte, Enrico Bertini, Claudio Bruno, Marika Pane, Roberto De Sanctis, Francesca Salmin, Giorgia Brigati, Maria Sframeli, Simona Lucibello, Giorgia Coratti, Emilio Albamonte, Francesco Danilo Tiziano, Orazio Genovese

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Oligonucleotides, CHOP, Spinal Muscular Atrophies of Childhood, Settore MED/03 - GENETICA MEDICA, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Severity of illness, medicine, Humans, In patient, Child, spinal muscular atrophy, Type I Spinal Muscular Atrophy, business.industry, Infant, Spinal muscular atrophy, medicine.disease, Spinal muscular atrophy, nusinersen, CHOP INTEND, real world, Survival of Motor Neuron 2 Protein, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Cohort, Nusinersen, Female, Neurology (clinical), business, Real world data, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09fe5a00f540abc0e7a2bf551663d35eTest
http://hdl.handle.net/11570/3142754Test

المؤلفون: Gabriele Mora, Christian Lunetta, Stanley H. Appel, Valeria A. Sansone, Robert G. Miller, Adriano Chiò, Andrea Lizio, Eleonora Maestri

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Population, Placebo, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Internal medicine, Post-hoc analysis, medicine, Humans, Immunologic Factors, Registries, Amyotrophic lateral sclerosis, education, Original Investigation, Aged, education.field_of_study, Amyotrophic Lateral Sclerosis, Biomarkers, C-Reactive Protein, Female, Follow-Up Studies, Middle Aged, Disease Progression, Neurology (clinical), biology, business.industry, Hazard ratio, C-reactive protein, medicine.disease, Surgery, 030104 developmental biology, Cohort, biology.protein, Biomarker (medicine), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75b0a4f16c49b6bf538bb6e2c0b94d15Test
http://hdl.handle.net/2318/1673187Test

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: Antony Amato, Michael P. McDermott, John T. Kissel, Patty C. Smith, Perry B. Shieh, Alan Pestronk, Jeffrey W. Ralph, Hiroshi Mitsumoto, Michael G. Hanna, Valeria A. Sansone, Shree Pandya, Emma Ciafaloni, Giovanni Meola, Brian A. Crum, J. Burge, Richard J. Barohn, Robert C. Griggs, Barbara E. Herr, Jaya Trivedi, Robin Conwit, Rabi Tawil, Steve C. Cannon

المصدر: Neurology. 86(15)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Dichlorphenamide, Gene mutation, Placebo, Hop (networking), law.invention, Paralyses, Familial Periodic, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Quality of life, Double-Blind Method, law, Internal medicine, medicine, Humans, Adverse effect, Carbonic Anhydrase Inhibitors, business.industry, Periodic paralysis, Middle Aged, medicine.disease, Confidence interval, 030104 developmental biology, Physical therapy, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22881c497a843204f3b774341811859bTest
https://pubmed.ncbi.nlm.nih.gov/26865522Test

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