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

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: 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

المؤلفون: Richard Gee, John W. Day, Lavinia Fanelli, Basil T. Darras, Eugenio Mercuri, Sally Dunaway Young, Gihan Tennekoon, Sonia Messina, Giorgia Coratti, Mariacristina Scoto, Darryl C. De Vivo, Danielle Ramsey, Tina Duong, Nicola Forcina, Matthew Civitello, Rachel Salazar, Jacqueline Montes, Marika Pane, Roberto De Sanctis, Francesco Muntoni, Richard S. Finkel, Allan M. Glanzman, Maria Carmela Pera, Elena S. Mazzone, Amy Pasternak, Anna Mayhew

مصطلحات موضوعية: 0301 basic medicine, Male, Physiology, International Cooperation, Clinical scale, Motor function, Severity of Illness Index, Disability Evaluation, 0302 clinical medicine, Statistical analysis, Reliability (statistics), spinal muscular atrophy, education.field_of_study, upper limb function, SMA, Muscular Atrophy, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Italy, Upper limb, Female, medicine.medical_specialty, Spinal, Psychometrics, Population, Muscular Atrophy, Spinal, Upper Extremity, 03 medical and health sciences, Cellular and Molecular Neuroscience, outcome measures, Physical medicine and rehabilitation, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Physiology (medical), medicine, Humans, Functional assessment, Hammersmith Functional Motor Scale, Outcome Measures, Rasch Analysis, Spinal Muscular Atrophy, Upper Limb Function, education, business.industry, Rasch analysis, Reproducibility of Results, Spinal muscular atrophy, medicine.disease, United Kingdom, United States, 030104 developmental biology, Physical therapy, Neurology (clinical), functional assessment, Hammersmith functional motor scale, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb2f78798fa9a882825333317307062bTest
http://hdl.handle.net/11570/3097249Test

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 ONE

مصطلحات 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

المؤلفون: Valeria Ricotti, Roberta Battini, Sonia Messina, Emilio Albamonte, Lavinia Fanelli, Domenico M. Romeo, Eugenio Mercuri, Maria Teresa Arnoldi, Francesco Muntoni, Elena S. Mazzone, Giorgia Coratti, Gian Luca Vita, Maria Carmela Pera, Enrico Bertini, Giovanni Baranello, Roberto De Sanctis, Marika Pane, Adele D'Amico, Serena Sivo

المصدر: PLoS ONE, Vol 11, Iss 8, p e0160195 (2016)
PLoS ONE

مصطلحات موضوعية: Male, 0301 basic medicine, Gerontology, Pediatrics, Heredity, Genetic Linkage, Physiology, Duchenne muscular dystrophy, lcsh:Medicine, Duchenne Muscular Dystrophy, Walking, Developmental and Pediatric Neurology, 030105 genetics & heredity, Medicine (all), Biochemistry, Genetics and Molecular Biology (all), Agricultural and Biological Sciences (all), Muscular Dystrophies, Families, Typically developing, Child Development, 0302 clinical medicine, Medicine and Health Sciences, Medicine, Biomechanics, Prospective Studies, Prospective cohort study, lcsh:Science, Musculoskeletal System, Children, Multidisciplinary, Organic Compounds, Outcome measures, Chemistry, Neurology, X-Linked Traits, Sex Linkage, Child, Preschool, Physical Sciences, Ambulatory, Legs, Steroids, Anatomy, Gait Analysis, Research Article, medicine.medical_specialty, Scoring system, 03 medical and health sciences, Genetics, Humans, Clinical Genetics, Biological Locomotion, business.industry, Limbs (Anatomy), Organic Chemistry, lcsh:R, Chemical Compounds, Biology and Life Sciences, Age appropriate, medicine.disease, Muscular Dystrophy, Duchenne, Multicenter study, Age Groups, Case-Control Studies, People and Places, Exercise Test, Population Groupings, lcsh:Q, Feet (Anatomy), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5410ae2bee7d5c6c95c377f28c8214f3Test
http://europepmc.org/articles/PMC4975396?pdf=renderTest

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

المؤلفون: Roberta Battini, Enrico Bertini, Adele D'Amico, Francesco Muntoni, Serena Sivo, Roberta Scalise, Marika Pane, Silvia Frosini, Giovanni Baranello, Valeria Ricotti, Eugenio Mercuri, Marion Main, Roberto De Sanctis, Lavinia Fanelli, Giovanna Tritto, Lucia Morandi, Flaviana Bianco, Domenico M. Romeo, Elena S. Mazzone, Chiara Alfonsi, Alessandra Graziano, Concetta Palermo, Alice Corlatti, Giulia Colia

مصطلحات موضوعية: Male, Duchenne muscular dystrophy, Pediatrics, medicine.medical_specialty, Individual item, Severity of Illness Index, North star ambulatory assessment, Outcome measure, Typically developing boys, Typically developing, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, North Star Ambulatory Assessment, Humans, 6-minute walk test, Prospective Studies, Genetics (clinical), duchenne muscular distrophy, business.industry, Outcome measures, medicine.disease, Clinical neurology, Muscular Dystrophy, Duchenne, Natural history, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Ambulatory, Exercise Test, Physical therapy, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30b007e161b11bc29a73c355431cb7f8Test
https://hdl.handle.net/11573/1670746Test

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

المساهمون: Pane, M, Mazzone, E, Fanelli, L, De Sanctis, R, Bianco, F, Sivo, S, D'Amico, A, Messina, S, Battini, R, Scutifero, M, Petillo, R, Frosini, S, Scalise, R, Vita, G, Bruno, C, Pedemonte, M, Mongini, T, Pegoraro, E, Brustia, F, Gardani, A, Berardinelli, A, Lanzillotta, V, Viggiano, E, Cavallaro, F, Sframeli, M, Bello, L, Barp, A, Bonfiglio, S, Rolle, E, Colia, G, Catteruccia, M, Palermo, C, D'Angelo, G, Pini, A, Iotti, E, Gorni, K, Baranello, G, Morandi, L, Bertini, E, Politano, Luisa, Sormani, M, Mercuri, E.

مصطلحات موضوعية: Adult, Male, Duchenne muscular dystrophy, medicine.medical_specialty, Activities of daily living, Adolescent, Clinical Neurology, Scale validation, Upper Extremity, Young Adult, Typically developing, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Physical medicine and rehabilitation, medicine, Humans, Genetics(clinical), Muscular Dystrophy, Pediatrics, Perinatology, and Child Health, Young adult, Child, Preschool, Upper limb, Genetics (clinical), business.industry, Outcome measures, Duchenne, medicine.disease, Muscular Dystrophy, Duchenne, medicine.anatomical_structure, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Physical therapy, Neurology (clinical), Symptom Assessment, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54e2336db720a9b6025377f0b1e31a28Test
http://hdl.handle.net/11567/772563Test

المؤلفون: Allan M. Glanzman, Elena S. Mazzone, Kristin J. Krosschell, Marilena Lombardo, Eugenio Mercuri, Enrico Bertini, Michelle Eagle, Marika Pane, Sonia Messina, Roberto De Sanctis, Julaine Florence, Gessica Vasco, Richard S. Finkel, Francesco Muntoni, Marion Main, Marco Pelliccioni, Diego Martinelli, Flaviana Bianco

المصدر: Neuromuscular disorders : NMD. 21(6)

مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Severity of Illness Index, Muscular Atrophy, Spinal, Upper Extremity, Disability Evaluation, Young Adult, Physical medicine and rehabilitation, Severity of illness, Outcome Assessment, Health Care, Task Performance and Analysis, Medicine, Gross motor function, Humans, Young adult, Child, Genetics (clinical), Muscle contracture, Observer Variation, business.industry, Outcome measures, SMA, medicine.anatomical_structure, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Physical therapy, Upper limb, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d621cb7ea723e8291a259e54473110Test
https://pubmed.ncbi.nlm.nih.gov/21421316Test