المؤلفون: Guja Astrea, Kiera Berggren, Jennifer N. Baldwin, Francesca Salmin, Kameron Bates, Nicholas E. Johnson, Jacopo Casiraghi, Kellen H. Quigg, Joshua Burns, Federica Ricci, Adele DʼAmico, Melissa McIntyre, Marnee J. McKay, Craig Campbell, Valeria A. Sansone

المصدر: Paediatrics Publications
Muscle Nerve

مصطلحات موضوعية: Male, 0301 basic medicine, Physiology, Functional testing, mobility measures, 030105 genetics & heredity, Grip strength, Child Development, 0302 clinical medicine, Activities of Daily Living, Myotonic Dystrophy, Child, education.field_of_study, Communication, Motor Skills, Child, Preschool, Cohort, Disease Progression, Female, Six Minute Walk Test, Cohort study, medicine.medical_specialty, Adolescent, congenital myotonic dystrophy, functional outcomes, myotonic dystrophy, Population, Walk Test, Article, Myotonin-Protein Kinase, 03 medical and health sciences, Cellular and Molecular Neuroscience, Physiology (medical), medicine, Humans, Muscle Strength, Social Behavior, education, business.industry, Infant, Newborn, Infant, Vineland Adaptive Behavior Scale, Clinical trial, Physical therapy, Observational study, Neurology (clinical), Trinucleotide Repeat Expansion, business, human activities, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ecefca0967ee8b41a6b80aa26df57b6Test
https://ir.lib.uwo.ca/paedpub/1436Test

المؤلفون: Stefano C. Previtali, Federica Ricci, Marika Pane, Angela Berardinelli, Valeria A. Sansone, Tiziana Mongini, Claudia Brogna, Gianluca Vita, Marina Pedemonte, Eugenio Mercuri, Luisa Politano, Francesca Magri, Giorgia Coratti, Roberta Battini, Rachele Rossi, Claudio Bruno, Sonia Messina, Giacomo P. Comi, Giovanni Baranello, Elena Pegoraro, Francesca Bovis, Nathalie Goemans, Adele D’ Amico, Alessandra Ferlini, Alice Donati, Enrico Bertini, Luca Bello, Simona Lucibello, Emilio Albamonte, Marcella Neri

مصطلحات موضوعية: 0301 basic medicine, Male, Duchenne muscular dystrophy, medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, Dystrophin, chemistry.chemical_compound, Exon, 0302 clinical medicine, Belgium, Missense mutation, Longitudinal Studies, Muscular Dystrophy, Child, Genetics (clinical), Genetics, Mutation, Oxadiazoles, Nonsense mutation, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Exons, Stop codon, Settore MED/26 - NEUROLOGIA, Neurology, Italy, Codon, Nonsense, Child, Preschool, Settore BIO/18 - GENETICA, Walk Test, Frameshift mutation, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Preschool, Codon, business.industry, Duchenne, Stop+4 model, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, 030104 developmental biology, chemistry, Nonsense, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee30573332bc60720ccd98a49ef9a6c6Test
http://hdl.handle.net/10807/182743Test

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: Michela Catteruccia, Fabiana Fattori, Valentina Codemo, RUGGIERO, LUCIA, Lorenzo Maggi, Giorgio Tasca, Chiara Fiorillo, Marika Pane, Angela Berardinelli, Margherita Verardo, Cinzia Bragato, Marina Mora, Lucia Morandi, Claudio Bruno, SANTORO, LUCIO, Elena Pegoraro, Eugenio Mercuri, Enrico Bertini, Adele D?Amico

المساهمون: Michela, Catteruccia, Fabiana, Fattori, Valentina, Codemo, Ruggiero, Lucia, Lorenzo, Maggi, Giorgio, Tasca, Chiara, Fiorillo, Marika, Pane, Angela, Berardinelli, Margherita, Verardo, Cinzia, Bragato, Marina, Mora, Lucia, Morandi, Claudio, Bruno, Santoro, Lucio, Elena, Pegoraro, Eugenio, Mercuri, Enrico, Bertini, Adele, D?amico

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000316709800005; volume:23; firstpage:229; lastpage:238; numberofpages:10; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11588/572334Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85013250259

الإتاحة: https://doi.org/10.1016/j.nmd.2012.12.009Test
http://hdl.handle.net/11588/572334Test

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 ONE

مصطلحات 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

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

المؤلفون: Enrico Bertini, Francesca Iodice, Aldo Lauri, Monica Prosperi, Marco Salzano, Adele D’ Amico

المصدر: Pediatric Anesthesia. 15:611-615

مصطلحات موضوعية: Male, medicine.medical_treatment, Muscle Fibers, Skeletal, Quadriplegia, Level of consciousness, Muscular Diseases, medicine, Humans, Myopathy, Mechanical ventilation, Respiratory Distress Syndrome, Newborn, business.industry, Infant, Newborn, Infant, medicine.disease, Neuromuscular Blocking Agents, Respiratory acidosis, Anesthesiology and Pain Medicine, El Niño, Virus Diseases, Anesthesia, Pediatrics, Perinatology and Child Health, Acute respiratory insufficiency, medicine.symptom, business, Acute quadriplegic myopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b35c7b7992dd757e109883a5b36acc8dTest
https://doi.org/10.1111/j.1460-9592.2005.01491.xTest

المؤلفون: Enrico Bertini, Adele D’Amico

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f0369d3068e93a9796b7526494808ddaTest
https://doi.org/10.1159/000207475Test

المؤلفون: Antonella Pini, Stefano C. Previtali, Sara Napolitano, Filippo Cavallaro, Marika Pane, Roberta Battini, Angela Berardinelli, Sonia Messina, Roberta Scalise, M.A. Donati, Tiziana Mongini, Gianluca Vita, Luca Doglio, Elena Pegoraro, R. De Sanctis, E. Bertini, Yvan Torrente, Luca Bello, L. Politano, Serena Bonfiglio, G. Comi, Elena S. Mazzone, Flaviana Bianco, M. P. Sormani, Gessica Vasco, Claudio Bruno, Silvia Frosini, Eugenio Mercuri, Adele D’ Amico

المصدر: Neuromuscular Disorders. 22:876

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, SIX MINUTE WALK, Supine position, business.industry, Duchenne muscular dystrophy, medicine.disease, Clinical trial, Neurology, Pediatrics, Perinatology and Child Health, Ambulatory, Cohort, Physical therapy, Medicine, Neurology (clinical), Longitudinal cohort, business, Genetics (clinical), Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0aff6e5d1947c6346ee2112b9cc2ec38Test
https://doi.org/10.1016/j.nmd.2012.06.243Test

المؤلفون: F. Muntoni, Eugenio Mercuri, F. Bianco, Maria Elena Lombardo, Maria Carmela Pera, Valeria Ricotti, Mariacristina Scoto, Giovanni Baranello, Michela Quintiliani, G.D ′Angelo, Adele D’ Amico, Louise Hartley, Marika Pane, Angela Berardinelli, Lucia Morandi, Paolo Alfieri, Concetta Palermo, Roberta Scalise

المصدر: Neuromuscular Disorders. 22:886

مصطلحات موضوعية: Mental development, Pediatrics, medicine.medical_specialty, biology, business.industry, Duchenne muscular dystrophy, Mean age, medicine.disease, Neurology, Pediatrics, Perinatology and Child Health, Cohort, medicine, biology.protein, Creatine kinase, Neurology (clinical), Family history, business, Genetics (clinical), Developmental quotient

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::73336861a879be1bdae1685f924de4d9Test
https://doi.org/10.1016/j.nmd.2012.06.274Test