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: Claudio Bruno, Gian Luca Vita, Jacqueline Montes, Maria Sframeli, Tina Duong, Valeria Sansone, Annalia Frongia, Mariacristina Scoto, John W. Day, Francesco Muntoni, Giorgia Coratti, Enrico Bertini, Jessica Exposito Escudero, Simona Lucibello, Marika Pane, Sonia Messina, Allan M. Glanzman, Eugenio Mercuri, Roberto De Sanctis, Elena S. Mazzone, Anna Mayhew, Laura Antonaci, Francesca Bovis, Andrés Nascimento Osorio, Matthew Civitello, Sara Carnicella, Rachel Salazar, Richard S. Finkel, Chiara Marini Bettolo, Adele D'Amico, Nathalie Goemans, Robert Muni Lofra, Darryl C. De Vivo, Marleen Van den Hauwe, Maria Carmela Pera, Evelin Milev, Amy Pasternak, Sally Dunaway Young, Emilio Albamonte, Basil T. Darras

المصدر: ANNALS OF NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Longitudinal study, Adolescent, Models, Neurological, Gene Dosage, Spinal Muscular Atrophies of Childhood, Young Adult, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Age of Onset, Child, Child, Preschool, Disease Progression, Female, Humans, Survival of Motor Neuron 2 Protein, Models, Internal medicine, medicine, Preschool, business.industry, Repeated measures design, Retrospective cohort study, Spinal muscular atrophy, medicine.disease, SMA, 030104 developmental biology, Neurology, Neurological, Cohort, Neurology (clinical), sma, Age of onset, business, 030217 neurology & neurosurgery, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7eff96e16ed9ca4d83cccff947b5eecTest
https://doi.org/10.1002/ana.25900Test

المؤلفون: Stephen J. Kolb, Jacqueline Montes, Marika Pane, Giorgia Coratti, Simona Lucibello, Marco Perulli, Eugenio Mercuri, Roberto De Sanctis, Richard S. Finkel, Darryl C. De Vivo, Basil T. Darras, Maria Carmela Pera

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Natural history, lcsh:Medicine, Review, Neonatal onset, Disease, Spinal Muscular Atrophies of Childhood, CHOP, Cohort Studies, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, lcsh:R, Infant, Newborn, Infant, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Clinical trial, Settore MED/26 - NEUROLOGIA, Phenotype, 030104 developmental biology, Italy, Cohort, business, CHOP INTEND, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db75db350724f0c00b7760581e5165a7Test
http://link.springer.com/article/10.1186/s13023-020-01356-1Test

المؤلفون: Giorgia Coratti, Marika Pane, Lavinia Fanelli, Simona Lucibello, Eugenio Mercuri, Emanuela Abiusi, Nicola Forcina, Concetta Palermo, Roberto De Sanctis, Stefania Fiori, Daniela Leone, Elena S. Mazzone, Francesco Danilo Tiziano, Maria Carmela Pera

المصدر: Neuromuscular Disorders. 28:24-28

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, DNA Copy Number Variations, Spinal Muscular Atrophies of Childhood, CHOP, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Longitudinal Studies, Age of Onset, Respiratory system, Genetics (clinical), Retrospective Studies, business.industry, Infant, Spinal muscular atrophy, medicine.disease, Survival Analysis, Phenotype, Survival of Motor Neuron 2 Protein, Clinical trial, Natural history, 030104 developmental biology, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Nutrition Therapy, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::171f4a136e565875afa901a241c6a78aTest
https://doi.org/10.1016/j.nmd.2017.09.015Test

المؤلفون: S. Messina, Eugenio Mercuri, Nicola Forcina, Marika Pane, Roberto De Sanctis, Giorgia Coratti, Sara Carnicella, E. Mazzone, Lavinia Fanelli, Maria Carmela Pera, Simona Lucibello, Laura Antonaci, Giulia Norcia, Anna Lia Frongia

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Spinal, Scoliosis, Spinal Muscular Atrophies of Childhood, Article, Time, Muscular Atrophy, Spinal, Cohort Studies, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Young adult, Child, Preschool, Retrospective Studies, business.industry, Child, Preschool, Female, Disease Progression, Retrospective cohort study, medicine.disease, SMA, Spinal muscular atrophy type II, Muscular Atrophy, Cohort, Observational study, Neurology (clinical), business, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13be4f054486fee2d558d4181cef52c6Test
http://hdl.handle.net/10807/153741Test

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

المؤلفون: Sally Dunaway Young, Valeria A. Sansone, Matthew Civitello, Maria Carmela Pera, Giorgia Coratti, Amy Pasternack, Susan A. Hall, Rachel Salazar, Eugenio Mercuri, Laura Antonaci, Claudio Bruno, Jacqueline Montes, Mariacristina Scoto, Emilio Albamonte, Susan Eaton, Concetta Palermo, Salma Samsuddin, Adele D'Amico, Tina Duong, Roberto De Sanctis, Basil T. Darras, Annalia Frongia, Francesco Muntoni, Aisha Rashid, Richard S. Finkel, Enrico Bertini, Darryl C. De Vivo, Maria Sframeli, Allan Glanzmann, Giuseppe Vita, Beatrice Berti, Sonia Messina, Julia Balashkina, John W. Day, Daniela Leone, Marika Pane

مصطلحات موضوعية: 0301 basic medicine, Spinal, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Disease registry, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Humans, Prospective Studies, Registries, Genetics (clinical), Final version, Medical education, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Research, Neuromuscular disorders, Spinal muscular atrophy, Data dictionary, United Kingdom, Identification (information), Muscular Atrophy, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Italy, General partnership, New disease, Pediatrics, Perinatology and Child Health, Cohort, Neurology (clinical), Business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82cec70572d78f4eea3195e9db7ac087Test
http://hdl.handle.net/10807/215447Test

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

المؤلفون: Giorgia Coratti, Danilo Tiziano, Claudio Bruno, Adele D'Amico, Marika Pane, Maria Sframeli, Valeria Sansone, Simona Lucibello, Giorgia Brigati, Emilio Albamonte, Michela Catteruccia, Beatrice Berti, Sonia Messina, Laura Antonaci, Maria Carmela Pera, Enrico Bertini, Eugenio Mercuri, Roberto De Sanctis

المصدر: PLoS ONE
PLoS ONE, Vol 15, Iss 3, p e0230677 (2020)

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Physiology, Walking, Electromyography, Developmental and Pediatric Neurology, 030105 genetics & heredity, Diagnostic Radiology, Cohort Studies, 0302 clinical medicine, Medicine and Health Sciences, Medicine, Age of Onset, Multidisciplinary, medicine.diagnostic_test, Radiology and Imaging, Genomics, Muscle Analysis, SMA, Magnetic Resonance Imaging, Settore MED/26 - NEUROLOGIA, Muscular Atrophy, Bioassays and Physiological Analysis, Neurology, Cohort, Female, Muscle Electrophysiology, Research Article, Cohort study, medicine.medical_specialty, Spinal, Imaging Techniques, Science, Research and Analysis Methods, Muscular Atrophy, Spinal, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Genomic Medicine, Diagnostic Medicine, Genetics, Humans, Genetic Testing, Genetic testing, Clinical Genetics, Infant, Biological Locomotion, business.industry, Electrophysiological Techniques, Biology and Life Sciences, Human Genetics, Magnetic resonance imaging, Spinal muscular atrophy, medicine.disease, Age of onset, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bf65f7f9e982d6e3a684a2e1e9cc429Test
https://doi.org/10.1371/journal.pone.0230677Test

المؤلفون: Elena Procopio, Filippo Cavallaro, Serena Bonfiglio, Maria Grazia D'Angelo, Marika Pane, Angela Berardinelli, Francesca Magri, Maria Pia Sormani, Maria Teresa Arnoldi, Gianluca Vita, Valentina Lanzillotta, Tiziana Mongini, Luisa Politano, Adele D'Amico, Eugenio Mercuri, Roberta Petillo, Giulia Colia, Enrico Bertini, Nicola Forcina, Claudio Bruno, Silvia Frosini, Roberta Battini, Stefano C. Previtali, Elena S. Mazzone, Paola D'Ambrosio, Giacomo P. Comi, Roberto De Sanctis, Luca Bello, Maria Alice Donati, Giorgia Coratti, Antonella Pini, Sonia Messina, Lavinia Fanelli, Enrica Rolle, Alice Gardani, Yvan Torrente, Concetta Palermo, Giovanni Baranello, Elena Pegoraro

المساهمون: Mazzone, Elena S., Coratti, Giorgia, Sormani, Maria Pia, Messina, Sonia, Pane, Marika, D'Amico, Adele, Colia, Giulia, Fanelli, Lavinia, Berardinelli, Angela, Gardani, Alice, Lanzillotta, Valentina, D'Ambrosio, Paola, Petillo, Roberta, Cavallaro, Filippo, Frosini, Silvia, Bello, Luca, Bonfiglio, Serena, De Sanctis, Roberto, Rolle, Enrica, Forcina, Nicola, Magri, Francesca, Vita, Gianluca, Palermo, Concetta, Donati, Maria Alice, Procopio, Elena, Arnoldi, Maria Teresa, Baranello, Giovanni, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Torrente, Yvan, Previtali, Stefano C., Bruno, Claudio, Politano, Luisa, Comi, Giacomo P., D'Angelo, Maria Grazia, Bertini, Enrico, Mercuri, Eugenio

المصدر: PLoS ONE, Vol 11, Iss 3, p e0151445 (2016)
PLoS ONE

مصطلحات موضوعية: Genetics and Molecular Biology (all), 0301 basic medicine, Male, Heredity, Physiology, Genetic Linkage, Epidemiology, Duchenne muscular dystrophy, lcsh:Medicine, Walking, Duchenne Muscular Dystrophy, Biochemistry, Outcome measures, Muscular Dystrophies, Families, 0302 clinical medicine, Medicine and Health Sciences, Biomechanics, Muscular Dystrophy, Longitudinal Studies, Young adult, Muscular dystrophy, Prospective cohort study, Child, lcsh:Science, Children, Multidisciplinary, Organic Compounds, Medicine (all), Chemistry, distrofia, Neurology, dystrophy, Adolescent, Adult, Child, Preschool, Disease Progression, Humans, Muscular Dystrophy, Duchenne, Young Adult, Agricultural and Biological Sciences (all), Biochemistry, Genetics and Molecular Biology (all), X-Linked Traits, Sex Linkage, Research Design, Cohort, Physical Sciences, Observational Studies, Steroids, Cohort study, Human, Research Article, medicine.medical_specialty, 6MWD, Research and Analysis Methods, Natural history of disease, 03 medical and health sciences, Physical medicine and rehabilitation, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Genetics, Preschool, Clinical Genetics, business.industry, Biological Locomotion, Organic Chemistry, Time rised from the floor, lcsh:R, Chemical Compounds, Biology and Life Sciences, Duchenne, medicine.disease, 030104 developmental biology, Natural History of Disease, Age Groups, People and Places, Genetics of Disease, Observational study, Population Groupings, lcsh:Q, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa1082ad96af339935aeca87923bcbbdTest
http://hdl.handle.net/11570/3094530Test