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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: Carmelo Messina, Elena Passeri, G. Meola, Valeria A. Sansone, Luca Maria Sconfienza, Sabrina Corbetta
المصدر: Neuromuscular Disorders. 30:28-34
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Osteoporosis, Myotonic dystrophy, Body Mass Index, Fractures, Bone, 03 medical and health sciences, Absorptiometry, Photon, 0302 clinical medicine, Insulin resistance, Bone Density, Internal medicine, medicine, Humans, Myotonic Dystrophy, Testosterone, Mass index, Muscle, Skeletal, Pelvic Bones, Genetics (clinical), Bone mineral, business.industry, Skeletal muscle, Middle Aged, medicine.disease, Osteopenia, Bone Diseases, Metabolic, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Body mass index, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44f89558b3f08f80061fef61cb4c4dc0Test
https://doi.org/10.1016/j.nmd.2019.11.006Test -
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المؤلفون: Jacqueline Montes, Marika Pane, Enrico Bertini, Francesco Muntoni, Maria Carmela Pera, Anna Lia Frongia, Amy Pasternak, Eugenio Mercuri, Valeria A. Sansone, John W. Day, Maria Sframeli, Francesca Salmin, Adele D'Amico, Matthew Civitello, Simona Lucibello, Sally Dunaway Young, Claudio Bruno, Laura Antonaci, Giorgia Coratti, Sara Carnicella, Tina Duong, Darryl C. De Vivo, Richard S. Finkel, Allan M. Glanzman, Sonia Messina, Paola Tacchetti, Basil T. Darras
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Cohort Studies, Upper Extremity, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Age related, Nusinersen, medicine, Functional outcome measures, Hammersmith Functional Motor Scale Expanded, Revised Upper Limb Module, Spinal Muscular Atrophy, Age Factors, Child, Child, Preschool, Female, Humans, Linear Models, Multivariate Analysis, Treatment effect, Preschool, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, SMA, Spinal muscular atrophy type II, Natural history, 030104 developmental biology, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Cohort, Upper limb, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506d0065b03b941235c643e5f4d33786Test
http://hdl.handle.net/11567/1087190Test -
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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 Neurologyمصطلحات 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 -
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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 -
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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 Neurologyمصطلحات 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 -
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المصدر: Clinical Chemistry and Laboratory Medicine (CCLM). 57:e149-e151
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, biology, business.industry, Biochemistry (medical), Clinical Biochemistry, General Medicine, medicine.disease, Dysphagia, Polymyositis, Gastroenterology, 03 medical and health sciences, Elevation (emotion), 030104 developmental biology, 0302 clinical medicine, Internal medicine, biology.protein, medicine, Creatine kinase, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94bf21528f79287a9f1d1ced2ec4c28fTest
https://doi.org/10.1515/cclm-2018-0928Test -
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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 -
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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 -
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المؤلفون: Christian Lunetta, Chiara Macchi, Ettore Corradi, Nilo Riva, Massimiliano Ruscica, Valeria A. Sansone, Paolo Magni, Patrick Weydt, Andrea Lizio, Lucio Tremolizzo
المساهمون: Lunetta, C, Lizio, A, Tremolizzo, L, Ruscica, M, Macchi, C, Riva, N, Weydt, P, Corradi, E, Magni, P, Sansone, V
مصطلحات موضوعية: Male, 0301 basic medicine, Muscle tissue, Serum, Vital capacity, medicine.medical_specialty, Irisin, Gastroenterology, pCO2, Disability Evaluation, 03 medical and health sciences, 0302 clinical medicine, Downregulation and upregulation, Internal medicine, Myokine, medicine, Humans, Endocrine system, Amyotrophic lateral sclerosis, Aged, MED/26 - NEUROLOGIA, business.industry, Respiration, Amyotrophic Lateral Sclerosis, Middle Aged, medicine.disease, Fibronectins, Cross-Sectional Studies, 030104 developmental biology, medicine.anatomical_structure, Metabolism, Neurology, Arterial blood, Female, Neurology (clinical), ALS, business, Biomarkers, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb658d943adf44381e688affee8a9937Test
http://hdl.handle.net/10281/210973Test