المؤلفون: Francesca Priolo, Marika Pane, Francesco Danilo Tiziano, Giovanni Vento, Roberto De Sanctis, Simonetta Costa, Eugenio Mercuri, Giorgio Conti, Eloisa Tiberi, Domenico M. Romeo

المصدر: Annals of Clinical and Translational Neurology

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Relative efficacy, Case Study, business.industry, General Neuroscience, MEDLINE, Spinal muscular atrophy, medicine.disease, SMA, type 0 spinal muscular atrophy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Text mining, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Internal medicine, medicine, Nusinersen, Neurology (clinical), Respiratory system, business, 030217 neurology & neurosurgery, After treatment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::175884737437bf57259cb2672acc33a6Test
http://europepmc.org/articles/PMC7732235Test

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

الإتاحة: https://doi.org/10.1056/NEJMoa2009965Test
http://hdl.handle.net/10807/213685Test

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

الإتاحة: https://doi.org/10.1056/NEJMoa2102047Test
http://hdl.handle.net/10807/213667Test

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

الإتاحة: https://doi.org/10.1056/NEJMoa2102047Test
http://hdl.handle.net/10807/213666Test

المؤلفون: Jacqueline Montes, Eugenio Mercuri, Darryl C. De Vivo, Basil T. Darras, Francesca Bovis, Francesco Muntoni, Maria Pia Sormani, John W. Day, Marion Main, Mariacristina Scoto, Roberto De Sanctis, Maria Carmela Pera, Amy Pasternak, Sally Dunaway Young, Robert Muni Lofra, Marika Pane, Volker Straub, Richard S. Finkel, Giorgia Coratti, Danielle Ramsey, Tina Duong, Allan M. Glanzman, Elena S. Mazzone, Anna Mayhew

المصدر: Muscle & Nerve. 59:426-430

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Physiology, business.industry, Spinal muscular atrophy, 030105 genetics & heredity, medicine.disease, SMA, 03 medical and health sciences, Cellular and Molecular Neuroscience, Spinal Muscular Atrophy Type 2, 0302 clinical medicine, Muscle nerve, medicine.anatomical_structure, Physical medicine and rehabilitation, Physiology (medical), Functional abilities, medicine, Upper limb, In patient, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fe8e2dcdbcb94b0e97b2e4a26b5c264dTest
https://doi.org/10.1002/mus.26419Test

المؤلفون: Marika Pane, Elena S. Mazzone, Lavinia Fanelli, Roberto De Sanctis, Flaviana Bianco, Serena Sivo, Adele D'Amico, Sonia Messina, Roberta Battini, Marianna Scutifero, Roberta Petillo, Silvia Frosini, Roberta Scalise, Gianluca Vita, Claudio Bruno, Marina Pedemonte, Tiziana Mongini, Elena Pegoraro, Francesca Brustia, Alice Gardani, Angela Berardinelli, Valentina Lanzillotta, Emanuela Viggiano, Filippo Cavallaro, Maria Sframeli, Luca Bello, Andrea Barp, Serena Bonfiglio, Enrica Rolle, Giulia Colia, Michela Catteruccia, Concetta Palermo, Grazia D'Angelo, Antonella Pini, Elena Iotti, Ksenija Gorni, Giovanni Baranello, Lucia Morandi, Enrico Bertini, Luisa Politano, MariaPia Sormani, Eugenio Mercuri

مصطلحات موضوعية: Genetics(clinical), Pediatrics, Perinatology, and Child Health, Neurology, Clinical Neurology

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/37916Test

الإتاحة: https://doi.org/10.1016/j.nmd.2013.11.014Test
https://www.openaccessrepository.it/record/37916Test

المؤلفون: Gloria Ferrantini, Marika Pane, Beatrice Berti, Eugenio Mercuri, Nicola Forcina, Roberto De Sanctis, Cristina De Rose, Danilo Buonsenso

المصدر: J Ultrasound

مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, Point-of-Care Systems, Diaphragm, Diaphragmatic breathing, Case Report, Muscular Atrophy, Spinal, 03 medical and health sciences, Diaphragm ultrasound, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, SMARD1, Internal medicine, Ultrasound, Internal Medicine, medicine, Animals, Humans, Radiology, Nuclear Medicine and imaging, Lung, Mechanical ventilation, Respiratory Distress Syndrome, Newborn, Lung ultrasound, Respiratory distress, JUSD-D-21–00,057, business.industry, Precision medicine, Infant, General Medicine, Spinal muscular atrophy, Diaphragm function, medicine.disease, Personalized medicine, Diaphragm (structural system), DNA-Binding Proteins, medicine.anatomical_structure, Dyspnea, 030228 respiratory system, Respiratory failure, Breathing, Cardiology, Female, business, 030217 neurology & neurosurgery, Neuromuscular disorders, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::766edd07ddfe56358741c97170c62b91Test
http://hdl.handle.net/10807/205916Test

المؤلفون: Mariacristina Scoto, Irene Mizzoni, John W. Day, Annemarie Rohwer, Eugenio Mercuri, Darryl C. De Vivo, Laura Antonaci, Richard S. Finkel, Tina Duong, Gian Luca Vita, Roberto De Sanctis, Jacqueline Montes, Evelin Milev, Adele DʼAmico, Giovanni Baranello, Giorgia Coratti, Marika Pane, Allan M. Glanzman, Emilio Albamonte, Elena S. Mazzone, Basil T. Darras, Enrico Bertini, Maria Sframeli, Maria Carmela Pera, Amy Pasternak, Sally Dunaway Young, Anna Lia Frongia, Francesca Bovis, Sonia Messina, Francesco Muntoni, Claudio Bruno, Valeria A. Sansone, Matthew Civitello

مصطلحات موضوعية: medicine.medical_specialty, Physiology, Concordance, Oligonucleotides, Spinal Muscular Atrophies of Childhood, neuromuscular disorders, Motor function, Muscular Atrophy, Spinal, Upper Extremity, Cellular and Molecular Neuroscience, outcome measures, Physical medicine and rehabilitation, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Physiology (medical), medicine, Gross motor function, Humans, In patient, spinal muscular atrophy, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Spinal muscular atrophy, medicine.disease, SMA, motor, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Cross-Sectional Studies, Upper limb, disease severity, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21dd54e69537baa86748b370c0fa960cTest
http://hdl.handle.net/11567/1072553Test

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: 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