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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: Valeria A. Sansone, Francesca Bovis, Richard S. Finkel, Maria Carmela Pera, Eugenio Mercuri, Laura Antonaci, Giorgia Coratti, Fabrizia Chieppa, Marika Pane, Marta Ponzano, Costanza Cutrona
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)مصطلحات موضوعية: medicine.medical_specialty, Spinal, Oligonucleotides, Review, Critical review, Nusinersen, Spinal muscular atrophy, Child, Humans, Muscular Atrophy, Spinal, Spinal Muscular Atrophies of Childhood, Motor function, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Pharmacology (medical), Time point, Genetics (clinical), business.industry, General Medicine, SMA, medicine.disease, Muscular Atrophy, Meta-analysis, Medicine, Functional status, business, Real world data
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85a2896e190acd33d257649bc13b1f3dTest
https://doi.org/10.1186/s13023-021-02065-zTest -
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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: Mariacristina Scoto, Irene Mizzoni, John W. Day, Annemarie Rohwer, Eugenio Mercuri, Darryl C. De Vivo, Laura Antonaci, Richard S. Finkel, Tina Duong, Gian Luca Vita, Roberto De Sanctis, Jacqueline Montes, Evelin Milev, Adele DʼAmico, Giovanni Baranello, Giorgia Coratti, Marika Pane, Allan M. Glanzman, Emilio Albamonte, Elena S. Mazzone, Basil T. Darras, Enrico Bertini, Maria Sframeli, Maria Carmela Pera, Amy Pasternak, Sally Dunaway Young, Anna Lia Frongia, Francesca Bovis, Sonia Messina, Francesco Muntoni, Claudio Bruno, Valeria A. Sansone, Matthew Civitello
مصطلحات موضوعية: medicine.medical_specialty, Physiology, Concordance, Oligonucleotides, Spinal Muscular Atrophies of Childhood, neuromuscular disorders, Motor function, Muscular Atrophy, Spinal, Upper Extremity, Cellular and Molecular Neuroscience, outcome measures, Physical medicine and rehabilitation, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Physiology (medical), medicine, Gross motor function, Humans, In patient, spinal muscular atrophy, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Spinal muscular atrophy, medicine.disease, SMA, motor, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Cross-Sectional Studies, Upper limb, disease severity, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21dd54e69537baa86748b370c0fa960cTest
http://hdl.handle.net/11567/1072553Test -
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المؤلفون: Valeria A. Sansone, Marina Pedemonte, Roberto De Sanctis, Enrico Bertini, Claudio Bruno, Francesco Macagno, Michela Catteruccia, Eugenio Mercuri, Alessandra Di Bari, Fabrizio Rao, Adele D'Amico, Marika Pane, Renato Cutrera, Elisabetta Roma, Andrea Lizio, Sonia Messina, Emilio Albamonte, Giuseppe Vita, Alice Pirola, Marco Piastra, Carmela Maria Pera, Francesca Salmin, Maria Sframeli, Giorgia Coratti
المصدر: The Journal of Pediatrics. 219:223-228.e4
مصطلحات موضوعية: Male, Artificial ventilation, medicine.medical_specialty, medicine.medical_treatment, Oligonucleotides, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Spinal Muscular Atrophies of Childhood, SMA1, Cohort Studies, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, respiratory function, 030225 pediatrics, Internal medicine, medicine, Humans, Respiratory function, Longitudinal Studies, 030212 general & internal medicine, Prospective cohort study, Noninvasive Ventilation, business.industry, Respiration, nusinersen, ventilation, Infant, Spinal muscular atrophy, medicine.disease, Settore MED/26 - NEUROLOGIA, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Pediatrics, Perinatology and Child Health, Cohort, Breathing, Female, Nusinersen, business, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cb505e3ae92c12af798a472d4b0fb68Test
https://doi.org/10.1016/j.jpeds.2019.12.047Test -
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المؤلفون: Giorgia Coratti, Marika Pane, Simona Lucibello, Sonia Messina, Michela Catteruccia, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Francesco Danilo Tiziano, Roberto De Sanctis, Eugenio Mercuri, Enrico Bertini, Concetta Palermo, Giuseppe Vita, Giorgia Brigati, Adele D'Amico, Claudio Bruno, Valeria A. Sansone
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Adolescent, Treatment duration, Oligonucleotides, Neurological examination, CHOP, Spinal Muscular Atrophies of Childhood, CHOP INTEND, Hammersmith Infant Neurological Examination, Nusinersen, Spinal Muscular Atrophy, Werdnig Hoffmann disease, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Genetics (clinical), Motor function, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, SMA, Young adult, Child, Neurologic Examination, medicine.diagnostic_test, business.industry, Infant, Perinatology and Child Health, 030104 developmental biology, Treatment Outcome, Motor Skills, Child, Preschool, Female, business, 030217 neurology & neurosurgery, Werdnig-hoffmann disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7f169dbe7635d6c50876f67a0733c9bTest
http://hdl.handle.net/11570/3128391Test