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المؤلفون: Coratti, Giorgia, Pane, Marika, Lucibello, Simona, Pera, Maria Carmela, Pasternak, Amy, Montes, Jacqueline, Sansone, Valeria A, Duong, Tina, Dunaway Young, Sally, Messina, Sonia, D'Amico, Adele, Civitello, Matthew, Glanzman, Allan M, Bruno, Claudio, Salmin, Francesca, Tacchetti, Paola, Carnicella, Sara, Sframeli, Maria, Antonaci, Laura, Frongia, Anna Lia, De Vivo, Darryl C., Darras, Basil T., Day, John, Bertini, Enrico, Muntoni, Francesco, Finkel, Richard, Mercuri, Eugenio

المصدر: In Neuromuscular Disorders July 2021 31(7):596-602

المؤلفون: Pane, Marika, Coratti, Giorgia, Pera, Maria Carmela, Sansone, Valeria A, Messina, Sonia, D'Amico, Adele, Bruno, Claudio, Salmin, Francesca, Albamonte, Emilio, De Sanctis, Roberto, Sframeli, Maria, Di Bella, Vincenzo, Morando, Simone, Palermo, Concetta, Frongia, Anna Lia, Antonaci, Laura, Capasso, Anna, Catteruccia, Michela, Longo, Antonella, Ricci, Martina, Cutrona, Costanza, Pirola, Alice, Bravetti, Chiara, Pedemonte, Marina, Brolatti, Noemi, Bertini, Enrico, Mercuri, Eugenio

المصدر: Annals of Clinical and Translational Neurology. 9:404-409

مصطلحات موضوعية: Cohort Studies, Muscular Atrophy, Spinal, Upper Extremity, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, spinal muscular atroophy, Nusinersen, General Neuroscience, Oligonucleotides, Humans, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c3f68c3bf3db1d2026bb3d1ac3ee95
https://doi.org/10.1002/acn3.51514

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المؤلفون: Sansone, V. A., Coratti, Giorgia, Pera, Maria Carmela, Pane, Marika, Messina, S., Salmin, F., Albamonte, E., De Sanctis, Roberto, Sframeli, M., Di Bella, V., Morando, S., D'Amico, Adele, Frongia, Anna Lia, Antonaci, Laura, Pirola, A., Pedemonte, M., Bertini, Enrico Silvio, Bruno, C., Mercuri, Eugenio Maria, Di Bari, A., Signorino, A., Longo, A., Tacchetti, P., Brolatti, N., Rossi, Dario, Bravetti, C., Lucibello, Simona, Fanelli, Luca, Forcina, N., Norcia, G., Carnicella, S., Patanella, K. A., Leone, D., Palermo, C., Berti, B., Catania, Francesca, Colombo, A., Bozzardi, A., Ferrantini, Gloria, Vita, G.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Spinal, Oligonucleotides, Spinal Muscular Atrophies of Childhood, neuromuscular disorders, Cohort Studies, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Disease registry, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Medicine, Humans, Respiratory function, 030212 general & internal medicine, spinal muscular atrophy, Adult patients, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, adult, nusinersen, Spinal muscular atrophy, medicine.disease, SMA, Muscular Atrophy, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Neurology, Cohort, Upper limb, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d3f52080dd698b22f14586310cdb914
http://hdl.handle.net/10807/182719

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المؤلفون: Sivera R; Department of Neurology, Hospital Francesc de Borja, Gandía, Spain. rafasivera@gmail.com., Frasquet M; Department of Neurology, Hospital Universitari i Politécnic La Fe, Valencia, Spain.; Neuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, Spain., Lupo V; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders and Service of Genomics and Traslational Geneticis, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., García-Sobrino T; Department of Neurology, Hospital Clínico, Santiago de Compostela, Spain., Blanco-Arias P; Neurogenetics Research Group, Instituto de Investigaciones Sanitarias (IDIS), Santiago de Compostela, Spain.; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain., Pardo J; Department of Neurology, Hospital Clínico, Santiago de Compostela, Spain., Fernández-Torrón R; Neuromuscular Disorders Unit, Neurology Department, Hospital Donostia, San Sebastián, Spain.; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; Neuroscience Area, Biodonostia Health Research Institute, San Sebastián, Spain.; Center for Biomedical Research in the Neurodegenerative Diseases (CIBERNED) Network, Instituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain., de Munain AL; Neuromuscular Disorders Unit, Neurology Department, Hospital Donostia, San Sebastián, Spain.; Neuroscience Area, Biodonostia Health Research Institute, San Sebastián, Spain.; Center for Biomedical Research in the Neurodegenerative Diseases (CIBERNED) Network, Instituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.; Department of Neurosciences, School of Medicine, University of the Basque Country (EHU-UPV), San Sebastián, Spain., Márquez-Infante C; Department of Neurology and Neurophysiology, Hospital Universitario Virgen del Rocío, Sevilla, Spain., Villarreal L; Department of Neurology and Neurophysiology, Hospital Universitario Virgen del Rocío, Sevilla, Spain., Carbonell P; Department of Neurology and Neurophysiology, Hospital Universitario Virgen del Rocío, Sevilla, Spain., Rojas-García R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain., Segovia S; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain., Illa I; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain., Frongia AL; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundacion Sant Joan de Deu, Barcelona, Spain., Nascimento A; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundacion Sant Joan de Deu, Barcelona, Spain., Ortez C; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundacion Sant Joan de Deu, Barcelona, Spain., García-Romero MDM; Neuropaediatrics Department, Hospital la Paz, Madrid, Spain., Pascual SI; Neuropaediatrics Department, Hospital la Paz, Madrid, Spain.; Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain., Pelayo-Negro AL; Center for Biomedical Research in the Neurodegenerative Diseases (CIBERNED) Network, Instituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.; Department of Neurology, University Hospital 'Marqués de Valdecilla (IDIVAL)', Santander, Spain.; University of Cantabria (UC), Santander, Spain., Berciano J; Center for Biomedical Research in the Neurodegenerative Diseases (CIBERNED) Network, Instituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.; Department of Neurology, University Hospital 'Marqués de Valdecilla (IDIVAL)', Santander, Spain.; University of Cantabria (UC), Santander, Spain., Guerrero A; Neuromuscular Diseases Unit, Department of Neurology, Hospital Clínico San Carlos, Madrid, Spain., Casasnovas C; Neuromuscular Diseases Unit, Department of Neurology, Hospital Universitari de Bellvitge - IDIBELL, Barcelona, Spain., Camacho A; Child Neurology Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain., Esteban J; Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Department of Neurology, Hospital Ruber Internacional, Madrid, Spain., Chumillas MJ; Department of Neurophysiology, Hospital Universitari I Politécnic La Fe, Valencia, Spain., Barreiro M; Neuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, Spain., Díaz C; Department of Neurology, Hospital General de Alicante, Alicante, Spain., Palau F; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.; Institut de Recerca Sant Joan de Déu and Hospital Sant Joan de Déu, Barcelona, Spain.; Hospital Clínic, Barcelona, Spain.; Division of Pediatrics, University of Barcelona School of Medicine and Health Sciences, Barcelona, Spain., Vílchez JJ; Department of Neurology, Hospital Universitari i Politécnic La Fe, Valencia, Spain.; Neuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.; Department of Medicine, University of Valencia, Valencia, Spain., Espinós C; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders and Service of Genomics and Traslational Geneticis, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Sevilla T; Department of Neurology, Hospital Universitari i Politécnic La Fe, Valencia, Spain.; Neuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.; Department of Medicine, University of Valencia, Valencia, Spain.

المصدر: Scientific reports [Sci Rep] 2017 Jul 27; Vol. 7 (1), pp. 6677. Date of Electronic Publication: 2017 Jul 27.

نوع المنشور: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies* , Mutation*, Charcot-Marie-Tooth Disease/*genetics , Nerve Tissue Proteins/*genetics, Adolescent ; Adult ; Aged ; Charcot-Marie-Tooth Disease/metabolism ; Child ; Child, Preschool ; Cross-Sectional Studies ; Female ; Geography, Medical ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Spain ; Young Adult