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11
المؤلفون: Emilio Albamonte, Adele D'Amico, Sonia Messina, Valeria A. Sansone, Luca Mauro, Susanna Pozzi, Maria Carmela Pera, Marika Pane, Andrea Lizio, Enrico Bertini, Cristina Italiano, Claudio Bruno, Lucia Greco, Giorgia Coratti, Christine Zizzi, Alice Pirola, Maria Sframeli, Claudia Stancanelli, Chad Heatwole, Francesca Salmin, Jacopo Casiraghi, Eugenio Mercuri, Marina Pedemonte
مصطلحات موضوعية: 0301 basic medicine, Male, Severity of Illness Index, Internal validity, Cohort Studies, 0302 clinical medicine, Cost of Illness, Surveys and Questionnaires, Medicine, Child, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Middle Aged, SMA, Muscular Atrophy, medicine.anatomical_structure, Test-retest reliability, Neurology, Italy, Cohort, Upper limb, Spinal muscular atrophy health index, Patient-reported outcome, Female, Adult, medicine.medical_specialty, Adolescent, Spinal, Muscular Atrophy, Spinal, 03 medical and health sciences, Patient-reported outcomes, Spinal muscular atrophy, Humans, Quality of Life, Reproducibility of Results, Translations, Patient Reported Outcome Measures, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Cronbach's alpha, Disease burden, business.industry, medicine.disease, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Physical therapy, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f7d219115205388497280afb4c47d6aTest
http://hdl.handle.net/10807/182752Test -
12
المؤلفون: Eugenio Mercuri, Sonia Messina, Jacqueline Montes, Francesco Muntoni, Valeria A. Sansone, Laura Antonaci, Matt Civitello, Giorgia Coratti, Mencia de Lemus, Roberto de Sanctis, Marcus Droege Avexis, Tina Duong, Richard Finkel, Anna Lia Frongia, Ksenija Gorni Roche, Chad Heatwole, Nicole Gusset, Erik Henricson, Anna Mayhew, Chiara Marchesi, Amy Pasternak, Astrid Pechmann, Maria Carmela Pera, Ivana Rubino, Valeria Sansone, Mary Schroth, Dylan Trundell, Volker Straub
مصطلحات موضوعية: Gerontology, Health related quality of life, Quality of life, Activities of daily living, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Activity of daily living, MEDLINE, Caregiver burden, Spinal muscular atrophy, medicine.disease, SMA, Quality of life (healthcare), Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Neurology, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a631e903c9e3ed2f54be943d6ad2b113Test
http://hdl.handle.net/10807/182745Test -
13
المؤلفون: Valeria A. Sansone, Claudia Brogna, Giacomo P. Comi, Tommaso Verdolotti, Anna Pichiecchio, Emilio Albamonte, Marika Pane, Giovanni Antonini, Angela Berardinelli, Luana Ficociello, Giorgio Tasca, Claudia Cinnante, Lara Cristiano, Maria Carmela Pera, Laura Antonaci, Eugenio Mercuri, Chiara Begliuomini, Cesare Colosimo, Alessandra Govoni, Matteo Garibaldi, Tommaso Tartaglione, Luca Maria Sconfienza, Lorenzo Maggi
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neurology, Adolescent, Thigh, Spinal Muscular Atrophies of Childhood, Fatty infiltration, Muscular Atrophy, Spinal, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Atrophy, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, 030212 general & internal medicine, Prospective Studies, Child, Muscle, Skeletal, Magnetic Resonance Imaging, Muscle atrophy, Spinal muscular atrophy, Pelvis, Neuroradiology, Adiposity, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Anatomy, Middle Aged, medicine.disease, medicine.anatomical_structure, Child, Preschool, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d98bab2c3eaf3c5d420d2bbdeba6419Test
http://hdl.handle.net/10807/153584Test -
14
المؤلفون: Sally Dunaway Young, Valeria A. Sansone, Matthew Civitello, Maria Carmela Pera, Giorgia Coratti, Amy Pasternack, Susan A. Hall, Rachel Salazar, Eugenio Mercuri, Laura Antonaci, Claudio Bruno, Jacqueline Montes, Mariacristina Scoto, Emilio Albamonte, Susan Eaton, Concetta Palermo, Salma Samsuddin, Adele D'Amico, Tina Duong, Roberto De Sanctis, Basil T. Darras, Annalia Frongia, Francesco Muntoni, Aisha Rashid, Richard S. Finkel, Enrico Bertini, Darryl C. De Vivo, Maria Sframeli, Allan Glanzmann, Giuseppe Vita, Beatrice Berti, Sonia Messina, Julia Balashkina, John W. Day, Daniela Leone, Marika Pane
مصطلحات موضوعية: 0301 basic medicine, Spinal, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Disease registry, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Humans, Prospective Studies, Registries, Genetics (clinical), Final version, Medical education, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Research, Neuromuscular disorders, Spinal muscular atrophy, Data dictionary, United Kingdom, Identification (information), Muscular Atrophy, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Italy, General partnership, New disease, Pediatrics, Perinatology and Child Health, Cohort, Neurology (clinical), Business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82cec70572d78f4eea3195e9db7ac087Test
http://hdl.handle.net/10807/215447Test -
15
المؤلفون: Adele D'Amico, Giulia Colia, Giulia Norcia, Adnan Y. Manzur, Eugenio Mercuri, Valeria A. Sansone, Claudia Brogna, Marika Pane, Gian Luca Vita, Anne M. Connolly, Enrico Bertini, Terri Carry, Francesco Muntoni, Maria Teresa Arnoldi, Valeria Ricotti, Giovanni Baranello, Francesca Salmin, Simona Lucibello, Angela Berardinelli, Emilio Albamonte, Julie A. Parsons, Alice Gardani, Lianne Abbott, Giorgia Coratti, Sonia Messina, Marion Main
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Duchenne muscular dystrophy, Severity of Illness Index, 03 medical and health sciences, Outcome measure, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Duchenne Muscular dystrophy, Neuromuscular disorders, North Star Ambulatory Assessment, Outcome measure, Adrenal Cortex Hormones, Outcome Assessment, Health Care, medicine, North Star Ambulatory Assessment, Humans, Prospective Studies, Child, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Disease progression, Assessment scale, medicine.disease, Natural history, Muscular Dystrophy, Duchenne, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Neuromuscular Agents, Child, Preschool, Pediatrics, Perinatology and Child Health, Ambulatory, Disease Progression, Multiple linear regression analysis, Neurology (clinical), business, Superior Sagittal Sinus, Duchenne Muscular dystrophy, 030217 neurology & neurosurgery, Neuromuscular disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87fe9af31cba2112b8b51a6b78350ce8Test
http://hdl.handle.net/10807/182742Test -
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المؤلفون: Valeria A. Sansone, Marina Pedemonte, Roberto De Sanctis, Enrico Bertini, Claudio Bruno, Francesco Macagno, Michela Catteruccia, Eugenio Mercuri, Alessandra Di Bari, Fabrizio Rao, Adele D'Amico, Marika Pane, Renato Cutrera, Elisabetta Roma, Andrea Lizio, Sonia Messina, Emilio Albamonte, Giuseppe Vita, Alice Pirola, Marco Piastra, Carmela Maria Pera, Francesca Salmin, Maria Sframeli, Giorgia Coratti
المصدر: The Journal of Pediatrics. 219:223-228.e4
مصطلحات موضوعية: Male, Artificial ventilation, medicine.medical_specialty, medicine.medical_treatment, Oligonucleotides, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Spinal Muscular Atrophies of Childhood, SMA1, Cohort Studies, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, respiratory function, 030225 pediatrics, Internal medicine, medicine, Humans, Respiratory function, Longitudinal Studies, 030212 general & internal medicine, Prospective cohort study, Noninvasive Ventilation, business.industry, Respiration, nusinersen, ventilation, Infant, Spinal muscular atrophy, medicine.disease, Settore MED/26 - NEUROLOGIA, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Pediatrics, Perinatology and Child Health, Cohort, Breathing, Female, Nusinersen, business, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cb505e3ae92c12af798a472d4b0fb68Test
https://doi.org/10.1016/j.jpeds.2019.12.047Test -
17
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 -
18
المؤلفون: Federica Ricci, Enrica Rolle, Elena S. Mazzone, Eugenio Mercuri, Anna Mayhew, Valeria A. Sansone, Giovanni Baranello, Claudia Brogna, Antonella Pini, Adele D'Amico, Giulia Colia, Lavinia Fanelli, Luca Bello, Roberto De Sanctis, Tiziana Mongini, Nicola Forcina, Elena Pegoraro, Michela Catteruccia, Maria Grazia D'Angelo, Roberta Battini, Maria Pia Sormani, Claudio Bruno, Riccardo Zanin, Silvia Frosini, Valentina Lanzillotta, Alice Gardani, Emilio Albamonte, Filippo Cavallaro, Giorgia Coratti, Angela Berardinelli, Andrea Barp, Luisa Politano, Marika Pane, Marianna Scutifero, Sonia Messina, Giulia Monaco, Gian Luca Vita, Roberta Petillo, Enrico Bertini
المساهمون: Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Mazzone, Elena Stacy, Mayhew, Anna, Fanelli, Lavinia, Messina, Sonia, Amico, Adele D, Catteruccia, Michela, Scutifero, Marianna, Frosini, Silvia, Lanzillotta, Valentina, Colia, Giulia, Cavallaro, Filippo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Petillo, Roberta, Barp, Andrea, Gardani, Alice, Pini, Antonella, Monaco, Giulia, Angelo, Maria Grazia D, Zanin, Riccardo, Vita, Gian Luca, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Pegoraro, Elena, Bello, Luca, Berardinelli, Angela, Battini, Roberta, Sansone, Valeria, Albamonte, Emilio, Baranello, Giovanni, Bertini, Enrico, Politano, Luisa, Sormani, Maria Pia, Mercuri, Eugenio
المصدر: PLoS ONE
PLoS ONE, Vol 13, Iss 6, p e0199223 (2018)مصطلحات موضوعية: Male, Genetics and Molecular Biology (all), 030506 rehabilitation, Heredity, Psychometrics, Physiology, Genetic Linkage, Duchenne muscular dystrophy, lcsh:Medicine, Social Sciences, Walking, Duchenne Muscular Dystrophy, Biochemistry, Muscular Dystrophies, 0302 clinical medicine, Biochemistry, Genetics and Molecular Biology (all), Agricultural and Biological Sciences (all), Medicine and Health Sciences, Psychology, Muscular Dystrophy, Longitudinal Studies, Muscular dystrophy, lcsh:Science, Child, Musculoskeletal System, upper limb power function, Multidisciplinary, Organic Compounds, 3. Good health, Chemistry, medicine.anatomical_structure, Data Acquisition, Neurology, X-Linked Traits, Sex Linkage, Ambulatory, Physical Sciences, Disease Progression, Upper limb, Steroids, Anatomy, 0305 other medical science, Research Article, medicine.medical_specialty, Computer and Information Sciences, Drug Research and Development, Monitoring, Adolescent, Shoulders, Longitudinal data, Monitoring, Ambulatory, Patient Advocacy, Research and Analysis Methods, Upper Extremity, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Humans, Muscular Dystrophy, Duchenne, medicine, Genetics, Clinical Trials, Clinical Genetics, Pharmacology, business.industry, Biological Locomotion, lcsh:R, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, medicine.disease, Duchenne, Clinical trial, Health Care, Physical therapy, lcsh:Q, Clinical Medicine, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d00f12468e810153ddb99721454c140Test
http://hdl.handle.net/11567/925037Test