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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 -
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المؤلفون: Giorgia Coratti, Marika Pane, Lavinia Fanelli, Simona Lucibello, Eugenio Mercuri, Emanuela Abiusi, Nicola Forcina, Concetta Palermo, Roberto De Sanctis, Stefania Fiori, Daniela Leone, Elena S. Mazzone, Francesco Danilo Tiziano, Maria Carmela Pera
المصدر: Neuromuscular Disorders. 28:24-28
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, DNA Copy Number Variations, Spinal Muscular Atrophies of Childhood, CHOP, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Longitudinal Studies, Age of Onset, Respiratory system, Genetics (clinical), Retrospective Studies, business.industry, Infant, Spinal muscular atrophy, medicine.disease, Survival Analysis, Phenotype, Survival of Motor Neuron 2 Protein, Clinical trial, Natural history, 030104 developmental biology, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Nutrition Therapy, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::171f4a136e565875afa901a241c6a78aTest
https://doi.org/10.1016/j.nmd.2017.09.015Test -
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المؤلفون: Roberto De Sanctis, Sally Dunaway Young, Rachel Salazar, Jacqueline Montes, Danilo Tiziano, Leonardo Lapenta, Francesco Muntoni, Laura Antonaci, Allan M. Glanzman, Elena S. Mazzone, Eugenio Mercuri, Basil T. Darras, Maria Carmela Pera, Darryl C. De Vivo, Amy Pasternak, Richard S. Finkel, Giorgia Coratti, Marika Pane, Janet Quigley
المصدر: Neuromuscular Disorders
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Hammersmith Infant Neurological Examination, Motor milestones, Outcome measures, Spinal muscular atrophy, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Genetics (clinical), Clinical Neurology, Neurological examination, Spinal Muscular Atrophies of Childhood, Sitting, Settore MED/03 - GENETICA MEDICA, Pediatrics, Article, 03 medical and health sciences, Child Development, 0302 clinical medicine, medicine, Milestone (project management), Humans, Genetics(clinical), Longitudinal Studies, Pediatrics, Perinatology, and Child Health, Retrospective Studies, Neurologic Examination, Type I Spinal Muscular Atrophy, medicine.diagnostic_test, business.industry, Infant, Perinatology and Child Health, medicine.disease, SMA, Natural history, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Motor Skills, Child, Preschool, Developmental Milestone, Disease Progression, Physical therapy, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e7714d095011ab42d85620d4e5d2d78Test
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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 -
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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 -
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المؤلفون: Elena Procopio, Filippo Cavallaro, Serena Bonfiglio, Maria Grazia D'Angelo, Marika Pane, Angela Berardinelli, Francesca Magri, Maria Pia Sormani, Maria Teresa Arnoldi, Gianluca Vita, Valentina Lanzillotta, Tiziana Mongini, Luisa Politano, Adele D'Amico, Eugenio Mercuri, Roberta Petillo, Giulia Colia, Enrico Bertini, Nicola Forcina, Claudio Bruno, Silvia Frosini, Roberta Battini, Stefano C. Previtali, Elena S. Mazzone, Paola D'Ambrosio, Giacomo P. Comi, Roberto De Sanctis, Luca Bello, Maria Alice Donati, Giorgia Coratti, Antonella Pini, Sonia Messina, Lavinia Fanelli, Enrica Rolle, Alice Gardani, Yvan Torrente, Concetta Palermo, Giovanni Baranello, Elena Pegoraro
المساهمون: Mazzone, Elena S., Coratti, Giorgia, Sormani, Maria Pia, Messina, Sonia, Pane, Marika, D'Amico, Adele, Colia, Giulia, Fanelli, Lavinia, Berardinelli, Angela, Gardani, Alice, Lanzillotta, Valentina, D'Ambrosio, Paola, Petillo, Roberta, Cavallaro, Filippo, Frosini, Silvia, Bello, Luca, Bonfiglio, Serena, De Sanctis, Roberto, Rolle, Enrica, Forcina, Nicola, Magri, Francesca, Vita, Gianluca, Palermo, Concetta, Donati, Maria Alice, Procopio, Elena, Arnoldi, Maria Teresa, Baranello, Giovanni, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Torrente, Yvan, Previtali, Stefano C., Bruno, Claudio, Politano, Luisa, Comi, Giacomo P., D'Angelo, Maria Grazia, Bertini, Enrico, Mercuri, Eugenio
المصدر: PLoS ONE, Vol 11, Iss 3, p e0151445 (2016)
PLoS ONEمصطلحات موضوعية: Genetics and Molecular Biology (all), 0301 basic medicine, Male, Heredity, Physiology, Genetic Linkage, Epidemiology, Duchenne muscular dystrophy, lcsh:Medicine, Walking, Duchenne Muscular Dystrophy, Biochemistry, Outcome measures, Muscular Dystrophies, Families, 0302 clinical medicine, Medicine and Health Sciences, Biomechanics, Muscular Dystrophy, Longitudinal Studies, Young adult, Muscular dystrophy, Prospective cohort study, Child, lcsh:Science, Children, Multidisciplinary, Organic Compounds, Medicine (all), Chemistry, distrofia, Neurology, dystrophy, Adolescent, Adult, Child, Preschool, Disease Progression, Humans, Muscular Dystrophy, Duchenne, Young Adult, Agricultural and Biological Sciences (all), Biochemistry, Genetics and Molecular Biology (all), X-Linked Traits, Sex Linkage, Research Design, Cohort, Physical Sciences, Observational Studies, Steroids, Cohort study, Human, Research Article, medicine.medical_specialty, 6MWD, Research and Analysis Methods, Natural history of disease, 03 medical and health sciences, Physical medicine and rehabilitation, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Genetics, Preschool, Clinical Genetics, business.industry, Biological Locomotion, Organic Chemistry, Time rised from the floor, lcsh:R, Chemical Compounds, Biology and Life Sciences, Duchenne, medicine.disease, 030104 developmental biology, Natural History of Disease, Age Groups, People and Places, Genetics of Disease, Observational study, Population Groupings, lcsh:Q, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa1082ad96af339935aeca87923bcbbdTest
http://hdl.handle.net/11570/3094530Test -
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المؤلفون: Emanuela Viggiano, Enrica Rolle, Serena Bonfiglio, Elena S. Mazzone, Serena Sivo, Michele Sacchini, Maria Teresa Arnoldi, Tiziana Mongini, Gianluca Vita, Roberto De Sanctis, Filippo Cavallaro, Alessandra Graziano, Francesca Rossi, Enrico Bertini, Antonella Pini, Maria Pia Sormani, Concetta Palermo, Sonia Messina, Stefano C. Previtali, Yvan Torrente, Adelina Carlesi, Eugenio Mercuri, Valentina Lanzillotta, Maria Alice Donati, Lavinia Fanelli, Francesca Magri, Roberta Scalise, Giovanni Baranello, Paola D′Ambrosio, Elena Pegoraro, Claudio Bruno, Silvia Frosini, Adele D’ Amico, Luisa Politano, Marika Pane, Angela Berardinelli, Andrea Barp, Roberta Battini, Giacomo P. Comi
المصدر: PLoS ONE, Vol 10, Iss 12, p e0144079 (2015)
PLoS ONEمصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Time Factors, Duchenne muscular dystrophy, lcsh:Medicine, Walking, Clinical study, Outcome Assessment, Health Care, Medicine, Humans, Longitudinal Studies, Child, lcsh:Science, Multidisciplinary, business.industry, lcsh:R, Correction, medicine.disease, Natural history, Clinical trial, Muscular Dystrophy, Duchenne, Italy, Child, Preschool, Disease Progression, Exercise Test, lcsh:Q, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93387853e14d45f0e0133fd0b0c175a9Test
http://europepmc.org/articles/PMC4670221?pdf=renderTest -
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المؤلفون: Luisa Politano, Serena Bonfiglio, Roberta Scalise, Michele Sacchini, Antonella Pini, Enrico Bertini, Filippo Cavallaro, Maria Teresa Arnoldi, Valentina Lanzillotta, Stefano C. Previtali, Marika Pane, Serena Sivo, Gianluca Vita, Roberto De Sanctis, Angela Berardinelli, Francesca Rossi, Roberta Battini, Andrea Barp, Elena S. Mazzone, Giacomo P. Comi, Tiziana Mongini, Emanuela Viggiano, Eugenio Mercuri, Enrica Rolle, Maria Alice Donati, Yvan Torrente, Alessandra Graziano, Adelina Carlesi, Concetta Palermo, Lavinia Fanelli, Francesca Magri, Sonia Messina, Paola D′Ambrosio, Elena Pegoraro, Giovanni Baranello, Maria Pia Sormani, Claudio Bruno, Silvia Frosini, Adele D’ Amico
المساهمون: Pane, M, Mazzone, E, Sivo, S, Sormani, Mp, Messina, S, D., Amico A, Carlesi, A, Vita, G, Fanelli, L, Berardinelli, A, Torrente, Y, Lanzillotta, V, Viggiano, E, D., Ambrosio P, Cavallaro, F, Frosini, S, Barp, A, Bonfiglio, S, Scalise, R, De Sanctis, R, Rolle, E, Graziano, A, Magri, F, Palermo, C, Rossi, F, Donati, Ma, Sacchini, M, Arnoldi, Mt, Baranello, G, Mongini, T, Pini, A, Battini, R, Pegoraro, E, Previtali, S, Bruno, C, Politano, Luisa, Comi, Gp, Bertini, E, Mercuri, E.
المصدر: PLoS ONE
PLoS ONE, Vol 9, Iss 10, p e108205 (2014)مصطلحات موضوعية: Male, Genetics and Molecular Biology (all), Pediatrics, Time Factors, Child, Child, Preschool, Disease Progression, Humans, Italy, Longitudinal Studies, Muscular Dystrophy, Duchenne, Outcome Assessment (Health Care), Exercise Test, Walking, Heredity, Genetic Linkage, Duchenne muscular dystrophy, Duchenne Muscular Dystrophy, Biochemistry, Muscular Dystrophies, Primary outcome, Medicine and Health Sciences, Medicine, e108205, Muscular Dystrophy, Muscular dystrophy, Multidisciplinary, Medicine (all), Neuromuscular Diseases, Natural history, Neurology, Sex Linkage, X-Linked Traits, Ambulatory, 2014), Research Article, medicine.medical_specialty, Science, Agricultural and Biological Sciences (all), Biochemistry, Genetics and Molecular Biology (all), Natural history of disease, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Age groups, Genetics, 6-minute walk test, Clinical Trials, Preschool, Clinical Genetics, business.industry, Biology and Life Sciences, Duchenne, medicine.disease, Correction to Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes (vol 9, e108205, 2014), Physical therapy, Clinical Medicine, business, Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes, Correction to Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes (vol 9
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83bf4ce620302ba84c2bc34bb501c1fbTest
http://europepmc.org/articles/PMC4182715Test -
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المؤلفون: Marika Pane, Eugenio Mercuri, Jacqueline Montes, Serena Sivo, Laura Antonaci, Lavinia Fanelli, Concetta Palermo, Roberto De Sanctis, Elena S. Mazzone
مصطلحات موضوعية: Adult, medicine.medical_specialty, Time Factors, Adolescent, Severity of Illness Index, Muscular Atrophy, Spinal, Upper Extremity, Young Adult, Outcome measure, Physical medicine and rehabilitation, Severity of illness, medicine, Humans, Longitudinal Studies, Young adult, Child, Upper limb, Genetics (clinical), business.industry, Disease progression, Outcome measures, Spinal muscular atrophy, medicine.disease, Survival of Motor Neuron 1 Protein, Hammersmith, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Physical therapy, Disease Progression, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6c4238e73237ef485d57127177a1ed2Test
http://hdl.handle.net/10807/65122Test