نتائج البحث - "Roberto de Sanctis"

1

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

المؤلفون: Giorgia Coratti, Danilo Tiziano, Claudio Bruno, Adele D'Amico, Marika Pane, Maria Sframeli, Valeria Sansone, Simona Lucibello, Giorgia Brigati, Emilio Albamonte, Michela Catteruccia, Beatrice Berti, Sonia Messina, Laura Antonaci, Maria Carmela Pera, Enrico Bertini, Eugenio Mercuri, Roberto De Sanctis

المصدر: PLoS ONE
PLoS ONE, Vol 15, Iss 3, p e0230677 (2020)

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Physiology, Walking, Electromyography, Developmental and Pediatric Neurology, 030105 genetics & heredity, Diagnostic Radiology, Cohort Studies, 0302 clinical medicine, Medicine and Health Sciences, Medicine, Age of Onset, Multidisciplinary, medicine.diagnostic_test, Radiology and Imaging, Genomics, Muscle Analysis, SMA, Magnetic Resonance Imaging, Settore MED/26 - NEUROLOGIA, Muscular Atrophy, Bioassays and Physiological Analysis, Neurology, Cohort, Female, Muscle Electrophysiology, Research Article, Cohort study, medicine.medical_specialty, Spinal, Imaging Techniques, Science, Research and Analysis Methods, Muscular Atrophy, Spinal, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Genomic Medicine, Diagnostic Medicine, Genetics, Humans, Genetic Testing, Genetic testing, Clinical Genetics, Infant, Biological Locomotion, business.industry, Electrophysiological Techniques, Biology and Life Sciences, Human Genetics, Magnetic resonance imaging, Spinal muscular atrophy, medicine.disease, Age of onset, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bf65f7f9e982d6e3a684a2e1e9cc429Test
https://doi.org/10.1371/journal.pone.0230677Test

2

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data

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

3

Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study

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

4

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy

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

5

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes

المصدر: PLoS ONE, Vol 10, Iss 12, p e0144079 (2015)
PLoS ONE

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93387853e14d45f0e0133fd0b0c175a9Test
http://europepmc.org/articles/PMC4670221?pdf=renderTest

6

Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

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

7

6 minute walk test in Duchenne MD patients with different mutations: 12 month changes

المؤلفون: Claudio Bruno, Tiziana Mongini, Silvia Frosini, Sonia Messina, Enrica Rolle, Stefano C. Previtali, Francesca Gualandi, Roberto De Sanctis, Marika Pane, Gian Luca Vita, Filippo Cavallaro, Adele D'Amico, Paola D'Ambrosio, Angela Berardinelli, Roberta Battini, Luca Bello, Giovanni Baranello, Lucia Morandi, Giacomo P. Comi, Luisa Politano, Maria Teresa Arnoldi, Enrico Bertini, Elena S. Mazzone, Francesca Rossi, Concetta Palermo, Nathalie Goemans, Marlene Van der Haawue, Antonella Pini, Maria Alice Donati, Alessandra Ferlini, Yvan Torrente, Elena Pegoraro, Chiara Alfonsi, Roberta Scalise, Maria Pia Sormani, Eugenio Mercuri, Francesca Magri, Serena Bonfiglio, Michele Sacchini, Valentina Lanzillotta, Sara Napolitano, Lavinia Fanelli, Flaviana Bianco, Emanuela Viggiano

المساهمون: Pane, M, Mazzone, E, Sormani, Mp, Messina, S, Vita, Gl, Fanelli, L, Berardinelli, A, Torrente, Y, D'Amico, A, Lanzillotta, V, Viggiano, E, D'Ambrosio, P, Cavallaro, F, Frosini, S, Bello, L, Bonfiglio, S, Scalise, R, De Sanctis, R, Rolle, E, Bianco, F, Van der Haawue, M, Magri, F, Palermo, C, Rossi, F, Donati, Ma, Alfonsi, C, Sacchini, M, Arnoldi, Mt, Baranello, G, Mongini, T, Pini, A, Battini, R, Pegoraro, E, Previtali, Sc, Napolitano, S, Bruno, C, Politano, Luisa, Comi, Gp, Bertini, E, Morandi, L, Gualandi, F, Ferlini, A, Goemans, N, Mercuri, E.

المصدر: Università Cattolica del Sacro Cuore-IRIS
PLoS ONE, Vol 9, Iss 1, p e83400 (2014)
PLoS ONE

مصطلحات موضوعية: Male, Time Factors, Duchenne muscular dystrophy, Muscular Dystrophies, Cohort Studies, Dystrophin, inglese, Muscular dystrophy, Child, Multidisciplinary, Statistics, Neuromuscular Diseases, Neurology, Child, Preschool, Cohort, Observational Studies, Medicine, Cohort study, Research Article, Test Evaluation, medicine.medical_specialty, Adolescent, Clinical Research Design, Science, Nonsense mutation, changes, Biostatistics, walking, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Genetic Mutation, Diagnostic Medicine, Internal medicine, medicine, Genetics, Humans, Biology, Clinical Genetics, business.industry, Point mutation, Human Genetics, X-Linked, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, Mutation, Physical therapy, Observational study, business, Mathematics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b97d75fca133c4bcf128a8130f246f40Test
http://hdl.handle.net/11392/1994412Test

8

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

المساهمون: Mazzone, E, Martinelli, D, Berardinelli, A, Messina, S, D'Amico, A, Vasco, G, Main, M, Doglio, L, Politano, Luisa, Cavallaro, F, Frosini, S, Bello, L, Carlesi, A, Bonetti, Am, Zucchini, E, DE SANCTIS, R, Scutifero, M, Bianco, F, Rossi, F, Motta, Mc, Sacco, A, Donati, Ma, Mongini, T, Pini, A, Battini, R, Pegoraro, E, Pane, M, Pasquini, E, Bruno, C, Vita, G, DE WAURE, C, Bertini, E, Mercuri, E.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::532a8fe2f5de3286711b218429ea6b64Test
http://hdl.handle.net/11570/1903938Test

9

24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy

المساهمون: Mazzone, E, Pane, M, Sormani, Mp, Scalise, R, Berardinelli, A, Messina, S, Torrente, Y, D'Amico, A, Doglio, L, Viggiano, E, D'Ambrosio, P, Cavallaro, F, Frosini, S, Bello, L, Bonfiglio, S, De Sanctis, R, Rolle, E, Bianco, F, Magri, F, Rossi, F, Vasco, G, Vita, G, Motta, Mc, Donati, Ma, Sacchini, M, Mongini, T, Pini, A, Battini, R, Pegoraro, E, Previtali, S, Napolitano, S, Bruno, C, Politano, Luisa, Comi, Gp, Bertini, E, Mercuri, E.

المصدر: PLoS ONE
PLoS ONE; Vol 8
PLoS ONE, Vol 8, Iss 1, p e52512 (2013)

مصطلحات موضوعية: Male, Time Factors, Outcome Assessment, Non-Clinical Medicine, Duchenne muscular dystrophy, Anti-Inflammatory Agents, Duchenne Muscular Dystrophy, Walking, Outcome assessment, Cohort Studies, 0302 clinical medicine, Pregnenediones, Risk Factors, Outcome Assessment, Health Care, Medicine, Muscular Dystrophy, Longitudinal Studies, Muscular dystrophy, 10. No inequality, Child, 0303 health sciences, Multidisciplinary, Statistics, 3. Good health, Child, Preschool, Ambulatory, outcome, Risk assessment, Research Article, Test Evaluation, medicine.medical_specialty, Adolescent, Longitudinal data, Clinical Research Design, Science, Biostatistics, Natural history of disease, Risk Assessment, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Diagnostic Medicine, Humans, 6-minute walk test, Clinical Trials, Analysis of Variance, Exercise Test, Glucocorticoids, Logistic Models, Muscular Dystrophy, Duchenne, Prednisone, Preschool, 030304 developmental biology, Clinical Genetics, Health Care Policy, business.industry, Health Risk Analysis, X-Linked, Duchenne, medicine.disease, Health Care, Physical therapy, business, 030217 neurology & neurosurgery, Mathematics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd64f760c0c89949a47f5b160131bea1Test

تنقيح النتائج