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

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: Irene Meola, Maria Teresa Rinaudo, Giovanni de Marco, Christian Lunetta, Paola Origone, Emilio Albamonte, Adriano Chiò, Cristina Moglia, Paola Mandich, Valeria A. Sansone, Annarosa Lomartire, Rosario Vasta, Antonio Canosa, Andrea Calvo, Umberto Manera, Paola Lanteri

مصطلحات موضوعية: 0301 basic medicine, Proband, Aging, medicine.medical_specialty, Heterozygote, Juvenile amyotrophic lateral sclerosis, Gene Expression, Loss of Heterozygosity, Gene mutation, medicine.disease_cause, FUS gene, 03 medical and health sciences, Exon, 0302 clinical medicine, Internal medicine, medicine, Humans, Cognitive Dysfunction, RNA, Messenger, Truncated FUS protein expression, Child, Genetic Association Studies, Mutation, biology, business.industry, General Neuroscience, Amyotrophic Lateral Sclerosis, Wild type, Exons, 030104 developmental biology, Endocrinology, biology.protein, Disease Progression, RNA-Binding Protein FUS, Female, Neurology (clinical), Geriatrics and Gerontology, Antibody, business, 030217 neurology & neurosurgery, Nuclear localization sequence, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c9399758a8ee88ea463149dac02123Test
http://hdl.handle.net/2318/1778138Test

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: Francesca Trojsi, Mattia Siciliano, Cinzia Femiano, Gabriella Santangelo, Christian Lunetta, Andrea Calvo, Cristina Moglia, Kalliopi Marinou, Nicola Ticozzi, Christian Ferro, Carlo Scialò, Gianni Sorarù, Amelia Conte, Yuri M. Falzone, Rosanna Tortelli, Massimo Russo, Valeria Ada Sansone, Adriano Chiò, Gabriele Mora, Vincenzo Silani, Paolo Volanti, Claudia Caponnetto, Giorgia Querin, Mario Sabatelli, Nilo Riva, Giancarlo Logroscino, Sonia Messina, Antonio Fasano, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Jessica Mandrioli

المساهمون: Trojsi, F., Siciliano, M., Femiano, C., Santangelo, G., Lunetta, C., Calvo, A., Moglia, C., Marinou, K., Ticozzi, N., Ferro, C., Scialo, C., Soraru, G., Conte, A., Falzone, Y. M., Tortelli, R., Russo, M., Sansone, V. A., Chio, A., Mora, G., Silani, V., Volanti, P., Caponnetto, C., Querin, G., Sabatelli, M., Riva, N., Logroscino, G., Messina, S., Fasano, A., Monsurro, M. R., Tedeschi, G., Mandrioli, J.

المصدر: Frontiers in Neuroscience, Vol 13 (2019)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, amyotrophic lateral sclerosis, Survival, Population, Disease, Comorbidity, survival, lcsh:RC321-571, C9orf72 expansion, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, gender, Dementia, Family history, Amyotrophic lateral sclerosis, education, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Amyotrophic lateral sclerosi, education.field_of_study, business.industry, General Neuroscience, Gender, medicine.disease, comorbidity, 030104 developmental biology, Cohort, business, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6aa6d5e73e34b0ecc8a3f7886c5db1cTest
https://www.frontiersin.org/article/10.3389/fnins.2019.00485/fullTest

المؤلفون: G. Meola, Valeria A. Sansone, G. Rotondo, Louis J. Ptáček

المصدر: Italian journal of neurological sciences. 15(9)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Myotonia Congenita, Nav1.4, Molecular Sequence Data, Dermatology, Sodium Channels, Hypokalemic periodic paralysis, Internal medicine, medicine, Humans, Hyperkalemic periodic paralysis, Muscle, Skeletal, Polymorphism, Genetic, biology, Base Sequence, Myotonia congenita, Electromyography, General Neuroscience, Skeletal muscle, Periodic paralysis, General Medicine, Middle Aged, medicine.disease, Myotonia, Pedigree, Psychiatry and Mental health, Endocrinology, medicine.anatomical_structure, Phenotype, Italy, Paramyotonia congenita, Mutation, biology.protein, Female, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ce4b861e61a31559998d995e36d144Test
https://pubmed.ncbi.nlm.nih.gov/7721550Test