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1
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: 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 Déuمصطلحات 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 -
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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 -
4
المؤلفون: Eugenio Mercuri, Nicola Forcina, Roberta Onesimo, Gloria Ferrantini, Danilo Buonsenso, Beatrice Berti, Lavinia Fanelli, Antonietta Curatola, Marika Pane, Daniela Leone, Giulia Norcia, Sara Carnicella, Concetta Palermo, Simona Lucibello, Roberto De Sanctis
المصدر: Pediatric Pulmonology. 55:1781-1788
مصطلحات موضوعية: Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Adolescent, Diaphragm, Diaphragmatic breathing, Spinal Muscular Atrophies of Childhood, Contractility, Internal medicine, Humans, Medicine, Prospective Studies, Respiratory system, Child, Prospective cohort study, Ultrasonography, Noninvasive Ventilation, Diaphragm contraction, business.industry, Respiration, Ultrasound, Infant, Reproducibility of Results, SMA, Child, Preschool, Pediatrics, Perinatology and Child Health, Cardiology, Female, Diaphragmatic excursion, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c1e3a929dc38d9b6635ed7cb8da6ac3Test
https://doi.org/10.1002/ppul.24814Test -
5دورية أكاديمية
المؤلفون: Baranello, Giovanni, Mercuri, Eugenio, Stefania Bianchi Marzoli, Claudio Bruno, Marika Pane, Maria Carmela Pera, Giulia Maria Amorelli, Lorenzo Orazi, Giorgia Coratti, Roberto De Sanctis
المساهمون: Baranello, Giovanni, Darras, Basil T, Day, John W, Deconinck, Nicola, Klein, Andrea, Masson, Riccardo, Mercuri, Eugenio, Rose, Kristy, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Seabrook, Timothy, Fontoura, Paulo, Servais, Laurent, FIREFISH Working Group: Joseph, J Volpe, John, Posner, Armin, Koch, Ulrich, Kellner, Rosaline, Quinlivan, Irina, Balikova, Patricia, Delbeke, Inge, Joniau, Valentine, Tahon, Sylvia, Wittevrongel, Elke De Vos, Edmar, Zanoteli, Rodrigo de Holanda Mendonça, Ciro Matsui Jr, Ana Letícia Fornazieri Darcie, Cleide, Machado, Maria Kiyoko Oyamada, Daniel de Souza Costa, Joyce, Martini, Graziela, Polido, Juliana Rodrigues Iannicelli, Juliana Caires de Oliveira Achili Ferreira, Wang, Yi, Chaoping, Hu, Yiyun, Shi, Shuizhen, Zhou, Xiaomei, Zhu, Chen, Qian, Shen, Li, Ying, Xiao, Zhenxuan, Zhou, Hui, Li, Sujuan, Wang, Hui, Xiong, Tian, Sang, Cuijie, Wei, Jing, Wen, Yiwen, Cao, Wenzhu, Li, Lun, Qin, Nina, Barisic, Ivan, Celovec, Martina Galiot Delic, Petra Kristina Ivkić, Nenad, Vukojević, Ivana, Kern, Boris, Najdanovic, Marin, Skugor, Odile, Boespflug-Tanguy, Teresa, Gidaro, Andrea, Seferian, Emmanuel, Barreau, Elodie Da Cunha, Céline, Lambotin, Nabila, Mnafek, Helene, Peche, Stephanie, Gilabert, Allison, Grange, Charlotte, Lilien, Darko, Milascevic, Ariadna, Perticari, Shotaro, Tachibana, Emanuela, Pagliano, Bianchi Marzoli, Stefania, Diletta, Santarsiero, Myriam Garcia Sierra, Gemma, Tremolada, Maria Teresa Arnoldi, Marta, Vigano, Riccardo, Zanin, Claudio, Bruno, Noemi, Brolatti, Marina, Pedemonte, Enrico, Priolo, Giuseppe, Rao, Enrica, Spaletra, Lorenza, Sposetti, Elisa, Tassara, Simone, Morando, Paola, Tacchetti, Giacomo Pietro Comi, Alessandra, Govoni, Silvia Gabriella Osnaghi
مصطلحات موضوعية: Administration, Oral, Azo Compounds, Dose-Response Relationship, Drug, Female, Humans, Infant, Male, Neuromuscular Agents, Progression-Free Survival, Pyrimidines, RNA Splicing, Respiratory Insufficiency, Respiratory Tract Infections, Spinal Muscular Atrophies of Childhood, Survival of Motor Neuron 1 Protein, Settore MED/26 - NEUROLOGIA, Settore MED/39 - NEUROPSICHIATRIA INFANTILE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33626251; info:eu-repo/semantics/altIdentifier/wos/WOS:000687279800011; volume:384; issue:10; firstpage:915; lastpage:923; numberofpages:9; issueyear:2021; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/10807/213685Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102430550
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6دورية أكاديمية
المؤلفون: Baranello, Giovanni, Eugenio Mercuri, Marika Pane, Maria Carmela Pera, Giulia Maria Amorelli, Lorenzo Orazi, Giorgia Coratti, Roberto De Sanctis
المساهمون: Darras, Basil T, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Vlodavets, Dmitry, Wang, Yi, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Fontoura, Paulo, Servais, Laurent, Joseph J, Volpe, John, Posner, Armin, Koch, Ulrich, Kellner, Rosaline, Quinlivan, Nicolas, Deconinck, Irina, Balikova, Patricia, Delbeke, Inge, Joniau, Valentine, Tahon, Sylvia, Wittevrongel, Elke De Vos, Rodrigo de Holanda Mendonça, Ciro Matsui Jr, Ana Letícia Fornazieri Darcie, Cleide, Machado, Maria Kiyoko Oyamada, Daniel de Souza Costa, Joyce, Martini, Graziela, Polido, Juliana Rodrigues Iannicelli, Juliana Caires de Oliveira Achili Ferreira, Chaoping, Hu, Yiyun, Shi, Shuizhen, Zhou, Xiaomei, Zhu, Chen, Qian, Shen, Li, Ying, Xiao, Zhenxuan, Zhou, Hui, Li, Sujuan, Wang, Tian, Sang, Cuijie, Wei, Jing, Wen, Yiwen, Cao, Wenzhu, Li, Lun, Qin, Nina, Barisic, Ivan, Celovec, Martina, Martina, Galiot, Delic, Petra Kristina Ivkić, Nenad, Vukojević, Ivana, Kern, Boris, Najdanovic, Marin, Skugor, Odile, Boespflug-Tanguy, Teresa, Gidaro, Andrea, Seferian, Emmanuel, Barreau, Elodie Da Cunha, Céline, Lambotin, Nabila, Mnafek, Helene, Peche, Stephanie, Gilabert, Allison, Grange, Charlotte, Lilien, Darko, Milascevic, Ariadna, Perticari, Shotaro, Tachibana, Emanuela, Pagliano, Stefania Bianchi Marzoli, Diletta, Santarsiero, Myriam Garcia Sierra, Gemma, Tremolada, Maria Teresa Arnoldi, Marta, Vigano, Riccardo, Zanin, Noemi, Brolatti, Marina, Pedemonte, Enrico, Priolo, Giuseppe, Rao, Enrica, Spaletra, Lorenza, Sposetti, Elisa, Tassara, Simone, Morando, Paola, Tacchetti, Giacomo Pietro Comi, Alessandra, Govoni, Silvia Gabriella Osnaghi, Valeria, Minorini
مصطلحات موضوعية: Azo Compounds, Female, Historically Controlled Study, Humans, Infant, Male, Motor Skills, Neuromuscular Agents, Progression-Free Survival, Pyrimidines, Severity of Illness Index, Spinal Muscular Atrophies of Childhood, Settore MED/26 - NEUROLOGIA, Settore MED/39 - NEUROPSICHIATRIA INFANTILE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34320287; info:eu-repo/semantics/altIdentifier/wos/WOS:000684497600011; volume:385; issue:5; firstpage:427; lastpage:435; numberofpages:9; issueyear:2021; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/10807/213667Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111558253
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7دورية أكاديمية
المؤلفون: Giovanni Baranello, Eugenio Mercuri, Marika Pane, Maria Carmela Pera, Giulia Maria Amorelli, Lorenzo Orazi, Giorgia Coratti, Roberto De Sanctis
المساهمون: J Volpe, Joseph, Posner, John, Koch, Armin, Kellner, Ulrich, Quinlivan, Rosaline, Deconinck, Nicola, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Zanoteli, Edmar, de Holanda Mendonça, Rodrigo, Matsui Jr, Ciro, Letícia Fornazieri Darcie, Ana, Machado, Cleide, Kiyoko Oyamada, Maria, de Souza Costa, Daniel, Martini, Joyce, Polido, Graziela, Rodrigues Iannicelli, Juliana, Caires de Oliveira Achili Ferreira, Juliana, Wang, Yi, Hu, Chaoping, Shi, Yiyun, Zhou, Shuizhen, Zhu, Xiaomei, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Li, Wenzhu, Qin, Lun, Barisic, Nina, Celovec, Ivan, Martina, Martina, Delic, Galiot, Kristina Ivkić, Petra, Vukojević, Nenad, Kern, Ivana, Najdanovic, Bori, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andrea, Barreau, Emmanuel, Da Cunha, Elodie, Lambotin, Céline, Mnafek, Nabila, Peche, Helene, Gilabert, Stephanie, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Perticari, Ariadna, Tachibana, Shotaro, Baranello, Giovanni, Masson, Riccardo, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Teresa Arnoldi, Maria, Vigano, Marta, Zanin, Riccardo, Bruno, Claudio, Brolatti, Noemi, Pedemonte, Marina, Priolo, Enrico, Rao, Giuseppe, Spaletra, Enrica, Sposetti, Lorenza, Tassara, Elisa, Morando, Simone, Tacchetti, Paola, Pietro Comi, Giacomo, Govoni, Alessandra, Gabriella Osnaghi, Silvia, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Minuti, Elisa, Mercuri, Eugenio Maria, Pane, Marika, Palermo, Concetta, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza
مصطلحات موضوعية: Azo Compounds, Female, Historically Controlled Study, Humans, Infant, Male, Motor Skills, Neuromuscular Agents, Progression-Free Survival, Pyrimidines, Severity of Illness Index, Spinal Muscular Atrophies of Childhood, Settore MED/26 - NEUROLOGIA, Settore MED/39 - NEUROPSICHIATRIA INFANTILE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34320287; info:eu-repo/semantics/altIdentifier/wos/WOS:000684497600011; volume:385; issue:5; firstpage:427; lastpage:435; numberofpages:9; issueyear:2021; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/10807/213666Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111558253
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المؤلفون: Giulia Norcia, Beatrice Berti, Valentina Giorgio, Nicola Forcina, Daniela Leone, Richard S. Finkel, Concetta Palermo, Antonella Cerchiari, Eugenio Maria Mercuri, Giorgia Coratti, Lavinia Fanelli, Simona Lucibello, Marika Pane, Roberta Onesimo, Roberto De Sanctis, Sara Carnicella
المصدر: Journal of Neuromuscular Diseases
مصطلحات موضوعية: Research Report, Male, medicine.medical_specialty, dysphagia, Population, Spinal Muscular Atrophies of Childhood, oral motor function, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Swallowing, Surveys and Questionnaires, Functional abilities, Activities of Daily Living, Humans, Medicine, 030212 general & internal medicine, education, Fatigue, education.field_of_study, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Significant difference, Infant, Newborn, Infant, Developmentally Appropriate Practice, Spinal muscular atrophy, SMA, Checklist, Deglutition, Settore MED/26 - NEUROLOGIA, Neurology, Swallowing impairment, Physical therapy, Female, Neurology (clinical), Deglutition Disorders, business, type 1 SMA infants, swallowing, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::801d656f860a7a8e23f987deec115998Test
http://hdl.handle.net/10807/187121Test -
9
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 -
10
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