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: 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: 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: 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: 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: 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

المؤلفون: Emilia Bobeica, Cristina Ponzanelli, Paolo Stoia, Emilio Albamonte, Valeria A. Sansone, Fabrizio Rao, Claudio Bruno, Cristina Faraone, Danilo Tiziano, Valeria Cozzi, Marika Pane, Elisa De Mattia, Anna Maria Bonetti, Maria Sframeli, Marcello Villanova, Orazio Genovese, Anna Mandelli, Chiara Mastella, Marco Piastra, Sara Luppone, Francesca Penno, Adele D'Amico, Sonia Messina, Anna Ambrosini, Alessandro Pedicelli, Antonio Versaci, Stefania La Foresta, Luca Binetti, Alessia D'Agostino, Nicola Forcina, Giulia Colia, Elisa Falcier, Maria Macrì, Maurizio Heinen, Luca Mancini, Jacopo Casiraghi, Maria Beatrice Chiarini, Carlo Gandolfo, Concetta Palermo, Marta Ferretti, Maria Letizia Solinas, Giuseppe Vita, Imma Rulli, Giovanni Montobbio, Anita Pallara, Alice Pirola, Daniela Leone, Michela Catteruccia, Grazia Zappa, Renato Cutrera, Paola Tacchetti, Adelina Carlesi, Eloisa Gitto, Daniela Lauro, Alberto Fontana, Valentina Iurilli, Emma Mizzotti, Beatrice Travaglia, Enrico Bertini, Eugenio Mercuri, Fausto Fedeli, Marina Pedemonte, Roberto De Sanctis, Alberto Garaventa, Simona Spinoglio

مصطلحات موضوعية: 0301 basic medicine, MEDLINE, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, Settore MED/41 - ANESTESIOLOGIA, Medicine, Humans, Genetics (clinical), Medical education, business.industry, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Perinatology and Child Health, SMA, Survival of Motor Neuron 1 Protein, 030104 developmental biology, Italy, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Expanded access, Nusinersen, Expanded access program, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f8e96590fdb983f12a8b61d41c5e4edTest
http://hdl.handle.net/10807/118563Test