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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: 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: 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: Elena Costa, Giulia Merletti, Rosanna Cardani, Valeria A. Sansone, Giovanni Meola, Ilaria Merli, Rea Valaperta, Edoardo Spina, Barbara Fossati, Fortunata Lombardi, Elisa Brigonzi
المصدر: Genetic Testing and Molecular Biomarkers. 19:703-709
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, Pathology, medicine.medical_specialty, Myotonic dystrophy type 2, Myotonic dystrophy, Cohort Studies, Predictive Value of Tests, medicine, Humans, Myotonic Dystrophy, Muscular dystrophy, Myopathy, Genetics (clinical), Aged, DNA Repeat Expansion, medicine.diagnostic_test, business.industry, RNA-Binding Proteins, General Medicine, Middle Aged, medicine.disease, Myotonia, DNA extraction, Predictive value of tests, Female, Reagent Kits, Diagnostic, medicine.symptom, business, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f52dd5c253026040cdc605b60e4c8895Test
https://doi.org/10.1089/gtmb.2015.0135Test -
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المؤلفون: Luisa Politano, Giovanni Baranello, Gianluca Vita, Enrico Bertini, Tiziana Mongini, Marika Pane, Angela Berardinelli, Grazia D'Angelo, Eugenio Mercuri, Valeria A. Sansone, Stefano C. Previtali, Adele D'Amico, Elena Pegoraro, Claudio Bruno, Sonia Messina, Roberta Battini, Ksenija Gorni, Giacomo P. Comi, Federica Ricci, Antonella Pini
المساهمون: Mercuri, Eugenio, Baranello, G., Battini, R., Berardinelli, A., Bertini, E., Bruno, C., Comi, G. P., D'Amico, A., D'Angelo, G., Gorni, K., Messina, S., Mongini, T., Pane, M., Pegoraro, E., Pini, A., Politano, Luisa, Previtali, S., Ricci, F., Sansone, V., Vita, G. L.
مصطلحات موضوعية: Male, Registrie, Pediatrics, medicine.medical_specialty, Neurology, Standard of care, Duchenne muscular dystrophy, Tertiary Care Center, MEDLINE, Neurology (clinical), Pediatrics, Perinatology and Child Health, Genetics (clinical), Tertiary care, Cohort Studies, Tertiary Care Centers, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Muscular Dystrophy, Registries, Muscular dystrophy, Preschool, Child, Child, Preschool, Italy, Muscular Dystrophy, Duchenne, Steroids, Standard of Care, Steroid, business.industry, Perinatology and Child Health, Duchenne, medicine.disease, Settore MED/26 - NEUROLOGIA, Multicenter study, Physical therapy, Cohort Studie, business, 030217 neurology & neurosurgery, Human, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::093f218acd8cd0b4f0137109198ce4ceTest
http://hdl.handle.net/11570/3094538Test