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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, 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: Gloria, Ferrantini, Giorgia, Coratti, Roberta, Onesimo, Simona, Lucibello, Sarah, Bompard, Ida, Turrini, Graziamaria, Cicala, Michela, Caprarelli, Maria Carmela, Pera, Chiara, Bravetti, Beatrice, Berti, Valentina, Giorgio, Claudio, Bruno, Noemi, Brolatti, Chiara, Panicucci, Adele, D'Amico, Antonella, Longo, Chiara, Leoni, Valeria A, Sansone, Emilio, Albamonte, Sonia, Messina, Maria, Sframeli, Enrico, Bertini, Marika, Pane, Eugenio, Mercuri
المصدر: European journal of pediatrics. 181(5)
مصطلحات موضوعية: Adult, Spinal, Adolescent, Body Mass Index, Muscular Atrophy, Spinal, Young Adult, Neonate, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Nutritional status, Humans, Longitudinal Studies, Preschool, Child, Children, Retrospective Studies, Body Weight, Infant, Newborn, Infant, Spinal muscular atrophy, Newborn, Muscular Atrophy, Settore MED/26 - NEUROLOGIA, Cross-Sectional Studies, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Pediatrics, Perinatology and Child Health
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4d5614481d28dbde1c8ae8b2533f2f1Test
https://pubmed.ncbi.nlm.nih.gov/35048179Test -
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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 -
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المؤلفون: Stefano C. Previtali, Federica Ricci, Marika Pane, Angela Berardinelli, Valeria A. Sansone, Tiziana Mongini, Claudia Brogna, Gianluca Vita, Marina Pedemonte, Eugenio Mercuri, Luisa Politano, Francesca Magri, Giorgia Coratti, Roberta Battini, Rachele Rossi, Claudio Bruno, Sonia Messina, Giacomo P. Comi, Giovanni Baranello, Elena Pegoraro, Francesca Bovis, Nathalie Goemans, Adele D’ Amico, Alessandra Ferlini, Alice Donati, Enrico Bertini, Luca Bello, Simona Lucibello, Emilio Albamonte, Marcella Neri
مصطلحات موضوعية: 0301 basic medicine, Male, Duchenne muscular dystrophy, medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, Dystrophin, chemistry.chemical_compound, Exon, 0302 clinical medicine, Belgium, Missense mutation, Longitudinal Studies, Muscular Dystrophy, Child, Genetics (clinical), Genetics, Mutation, Oxadiazoles, Nonsense mutation, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Exons, Stop codon, Settore MED/26 - NEUROLOGIA, Neurology, Italy, Codon, Nonsense, Child, Preschool, Settore BIO/18 - GENETICA, Walk Test, Frameshift mutation, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Preschool, Codon, business.industry, Duchenne, Stop+4 model, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, 030104 developmental biology, chemistry, Nonsense, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee30573332bc60720ccd98a49ef9a6c6Test
http://hdl.handle.net/10807/182743Test -
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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: Federica Ricci, Enrica Rolle, Elena S. Mazzone, Eugenio Mercuri, Anna Mayhew, Valeria A. Sansone, Giovanni Baranello, Claudia Brogna, Antonella Pini, Adele D'Amico, Giulia Colia, Lavinia Fanelli, Luca Bello, Roberto De Sanctis, Tiziana Mongini, Nicola Forcina, Elena Pegoraro, Michela Catteruccia, Maria Grazia D'Angelo, Roberta Battini, Maria Pia Sormani, Claudio Bruno, Riccardo Zanin, Silvia Frosini, Valentina Lanzillotta, Alice Gardani, Emilio Albamonte, Filippo Cavallaro, Giorgia Coratti, Angela Berardinelli, Andrea Barp, Luisa Politano, Marika Pane, Marianna Scutifero, Sonia Messina, Giulia Monaco, Gian Luca Vita, Roberta Petillo, Enrico Bertini
المساهمون: Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Mazzone, Elena Stacy, Mayhew, Anna, Fanelli, Lavinia, Messina, Sonia, Amico, Adele D, Catteruccia, Michela, Scutifero, Marianna, Frosini, Silvia, Lanzillotta, Valentina, Colia, Giulia, Cavallaro, Filippo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Petillo, Roberta, Barp, Andrea, Gardani, Alice, Pini, Antonella, Monaco, Giulia, Angelo, Maria Grazia D, Zanin, Riccardo, Vita, Gian Luca, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Pegoraro, Elena, Bello, Luca, Berardinelli, Angela, Battini, Roberta, Sansone, Valeria, Albamonte, Emilio, Baranello, Giovanni, Bertini, Enrico, Politano, Luisa, Sormani, Maria Pia, Mercuri, Eugenio
المصدر: PLoS ONE
PLoS ONE, Vol 13, Iss 6, p e0199223 (2018)مصطلحات موضوعية: Male, Genetics and Molecular Biology (all), 030506 rehabilitation, Heredity, Psychometrics, Physiology, Genetic Linkage, Duchenne muscular dystrophy, lcsh:Medicine, Social Sciences, Walking, Duchenne Muscular Dystrophy, Biochemistry, Muscular Dystrophies, 0302 clinical medicine, Biochemistry, Genetics and Molecular Biology (all), Agricultural and Biological Sciences (all), Medicine and Health Sciences, Psychology, Muscular Dystrophy, Longitudinal Studies, Muscular dystrophy, lcsh:Science, Child, Musculoskeletal System, upper limb power function, Multidisciplinary, Organic Compounds, 3. Good health, Chemistry, medicine.anatomical_structure, Data Acquisition, Neurology, X-Linked Traits, Sex Linkage, Ambulatory, Physical Sciences, Disease Progression, Upper limb, Steroids, Anatomy, 0305 other medical science, Research Article, medicine.medical_specialty, Computer and Information Sciences, Drug Research and Development, Monitoring, Adolescent, Shoulders, Longitudinal data, Monitoring, Ambulatory, Patient Advocacy, Research and Analysis Methods, Upper Extremity, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Humans, Muscular Dystrophy, Duchenne, medicine, Genetics, Clinical Trials, Clinical Genetics, Pharmacology, business.industry, Biological Locomotion, lcsh:R, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, medicine.disease, Duchenne, Clinical trial, Health Care, Physical therapy, lcsh:Q, Clinical Medicine, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d00f12468e810153ddb99721454c140Test
http://hdl.handle.net/11567/925037Test