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: Anne-Marie Childs, Robert Muni Lofra, Min Ong, Eugenio Mercuri, Chiara Marini-Bettolo, Richard S. Finkel, Giorgia Coratti, Federica Trucco, Elizabeth A. Kichula, Adele D'Amico, Valeria A. Sansone, Francesco Muntoni, Mariacristina Scoto, Aledie A. Navas Nazario, Tracey Willis, Darryl C. De Vivo, Marika Pane, J. Day, Marion Main, Vasantha Gowda, Oscar H. Mayer, Claudio Bruno, A. Mayhew, Deepak Parasuraman, Emilio Albamonte, Sonia Messina, Jacqueline Montes, Basil T. Darras, Deborah Ridout, Enrico Bertini

المصدر: Neurology
article-version (Version of Record) 3

مصطلحات موضوعية: Male, Vital capacity, medicine.medical_specialty, Internationality, Adolescent, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Scoliosis, Spinal Muscular Atrophies of Childhood, Article, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Humans, Medicine, Respiratory function, Child, Retrospective Studies, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Retrospective cohort study, Respiration Disorders, SMA, medicine.disease, 030228 respiratory system, Female, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca983988c6c9fb647b81bac43f2cb61Test
https://doi.org/10.1212/wnl.0000000000011051Test

المؤلفون: Nancy L. Kuntz, Julie A. Parsons, Russell J. Butterfield, Francy Shu, Sandra P. Reyna, Janbernd Kirschner, Sarah Gheuens, Marco Petrillo, Darryl C. De Vivo, Kathryn J. Swoboda, Christopher Stebbins, Wildon Farwell, Wuh-Liang Hwu, Haluk Topaloglu, Enrico Bertini, Kristina Johnson, Richard Foster, Douglas A. Kerr, Valeria A. Sansone, Monique M. Ryan, Tawfeg Ben-Omran, Stephanie Fradette, Ishir Bhan, Thomas O. Crawford, Richard S. Finkel, Alfred Sandrock, John F. Staropoli, Yuh-Jyh Jong, Gabriel Braley

المصدر: Neuromuscular Disorders

مصطلحات موضوعية: 0301 basic medicine, Newborn screening, Male, Weakness, Pediatrics, medicine.medical_specialty, Time Factors, Oligonucleotides, Presymptomatic, Neurofilament, Motor Activity, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Nusinersen, Medicine, Humans, Adverse effect, Genetics (clinical), business.industry, Infant, Newborn, Infant, Spinal muscular atrophy, SMA, medicine.disease, Muscle atrophy, Clinical trial, Survival of Motor Neuron 2 Protein, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009a698a6201cae9a42c7310edf09bf6Test
http://europepmc.org/articles/PMC7127286Test

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

المؤلفون: Valeria A, Sansone, Emilio, Albamonte, Francesca, Salmin, Jacopo, Casiraghi, Alice, Pirola, Massimo, Bettinelli, Fabrizio, Rao, Luca, Mancini, Nicola, Tovaglieri, Fausto, Fedeli, Paolo, Stoia, Maurizio, Heinen, Valeria, Cozzi, Elena, Carraro, Christian, Lunetta, Alessandra, Di Bari, Eugenio, Mercuri, Cristina, Ponzanelli

المصدر: Neurological Sciences. 40:327-332

مصطلحات موضوعية: medicine.medical_specialty, Patient Dropouts, Neurology, Adolescent, Oligonucleotides, Dermatology, Intrathecal, Spinal Puncture, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Multidisciplinary approach, medicine, Humans, Family, 030212 general & internal medicine, Geography, Medical, Child, Injections, Spinal, Patient Care Team, Delivery of Health Care, Integrated, business.industry, Infant, General Medicine, Neuromuscular clinic, SMA, Spine, Integrated care, Psychiatry and Mental health, Neuroprotective Agents, Scoliosis, Child, Preschool, Physical therapy, Nusinersen, Neurology (clinical), Neurosurgery, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23815d6655b601f7c9e8f79463b46e3fTest
https://doi.org/10.1007/s10072-018-3622-9Test

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

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 Neurology

مصطلحات 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

المؤلفون: Valeria A. Sansone, Eugenio Mercuri

المصدر: The Lancet. Neurology. 19(4)

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, business.industry, MEDLINE, Oligonucleotides, Spinal muscular atrophy, medicine.disease, Cohort Studies, Muscular Atrophy, Spinal, Medicine, Humans, Nusinersen, Neurology (clinical), business, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::618af028e0348ac4405191f40b19542dTest
https://pubmed.ncbi.nlm.nih.gov/32199097Test

المؤلفون: Eugenio Maria Mercuri, Hanns Lochmüller, S. Attarian, Maggie C. Walter, Tim Hagenacker, Christoph Kleinschnitz, Juan F. Vázquez-Costa, S Delstanche, C Neuwirth, Valeria A. Sansone

المصدر: Journal of neuromuscular diseases
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Oligonucleotides, Medizin, SMN1, Disease, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Quality of life, Outcome Assessment, Health Care, medicine, Humans, business.industry, Spinal muscular atrophy, Motor neuron, Congresses as Topic, medicine.disease, SMA, 5q-SMA, adult SMA, motor neuron, nusinersen, spinal muscular atrophy, Clinical trial, 030104 developmental biology, medicine.anatomical_structure, Neurology, Practice Guidelines as Topic, Nusinersen, Settore MED/26 - Neurologia, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af6d90eb57c25aeb2ab4b1b64432d1aTest
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13279Test

المؤلفون: Tim Hagenacker, Eugenio Mercuri, Valeria A. Sansone, Maggie C. Walter

المصدر: Neurology. 96:1061.2-1062

مصطلحات موضوعية: medicine.medical_specialty, Adult patients, business.industry, Spinal muscular atrophy, Objective Improvement, medicine.disease, SMA, Single Center, Surgery, Lumbar, medicine, Nusinersen, Neurology (clinical), Respiratory system, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f8e657e7189ee29f5a2327d9bc0f3207Test
https://doi.org/10.1212/wnl.0000000000012042Test