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المؤلفون: Sonia Messina, Maria Sframeli, Jacqueline Montes, Simone Morando, John W. Day, Valeria A. Sansone, Matthew Civitello, Laura Antonaci, William B. Martens, Allan M. Glanzman, Enrico Bertini, Annemarie Rohwer, Marika Pane, Eugenio Mercuri, Adele D'Amico, Irene Mizzoni, Claudio Bruno, Katia Patanella, Roberto De Sanctis, Francesco Muntoni, Darryl C. De Vivo, Anna Lia Frongia, Francesca Bovis, Tina Duong, Maria Carmela Pera, Amy Pasternak, Giorgia Coratti, Francesca Salmin, Richard S. Finkel, Mariacristina Scoto, Basil T. Darras, Sally Dunaway Young
المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1622-1634 (2021)مصطلحات موضوعية: 0301 basic medicine, Male, Outcome Assessment, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, 0302 clinical medicine, Outcome Assessment, Health Care, Medicine, Adolescent, Adult, Aged, Child, Child, Preschool, Female, Humans, Longitudinal Studies, Middle Aged, Young Adult, Registries, Research Articles, media_common, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, General Neuroscience, nusinersen, SMA, medicine.anatomical_structure, Cohort, Upper limb, Nusinersen, RC321-571, Research Article, medicine.medical_specialty, media_common.quotation_subject, Neurosciences. Biological psychiatry. Neuropsychiatry, 03 medical and health sciences, Text mining, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Preschool, RC346-429, Selection bias, Adult patients, business.industry, Spinal muscular atrophy, medicine.disease, Health Care, 030104 developmental biology, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce733bf025ec593e1d29dfd1172ba332Test
http://europepmc.org/articles/PMC8351459Test -
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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: Jacqueline Montes, Eugenio Mercuri, Darryl C. De Vivo, Basil T. Darras, Francesca Bovis, Francesco Muntoni, Maria Pia Sormani, John W. Day, Marion Main, Mariacristina Scoto, Roberto De Sanctis, Maria Carmela Pera, Amy Pasternak, Sally Dunaway Young, Robert Muni Lofra, Marika Pane, Volker Straub, Richard S. Finkel, Giorgia Coratti, Danielle Ramsey, Tina Duong, Allan M. Glanzman, Elena S. Mazzone, Anna Mayhew
المصدر: Muscle & Nerve. 59:426-430
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Physiology, business.industry, Spinal muscular atrophy, 030105 genetics & heredity, medicine.disease, SMA, 03 medical and health sciences, Cellular and Molecular Neuroscience, Spinal Muscular Atrophy Type 2, 0302 clinical medicine, Muscle nerve, medicine.anatomical_structure, Physical medicine and rehabilitation, Physiology (medical), Functional abilities, medicine, Upper limb, In patient, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fe8e2dcdbcb94b0e97b2e4a26b5c264dTest
https://doi.org/10.1002/mus.26419Test -
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المؤلفون: Gloria Ferrantini, Marika Pane, Beatrice Berti, Eugenio Mercuri, Nicola Forcina, Roberto De Sanctis, Cristina De Rose, Danilo Buonsenso
المصدر: J Ultrasound
مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, Point-of-Care Systems, Diaphragm, Diaphragmatic breathing, Case Report, Muscular Atrophy, Spinal, 03 medical and health sciences, Diaphragm ultrasound, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, SMARD1, Internal medicine, Ultrasound, Internal Medicine, medicine, Animals, Humans, Radiology, Nuclear Medicine and imaging, Lung, Mechanical ventilation, Respiratory Distress Syndrome, Newborn, Lung ultrasound, Respiratory distress, JUSD-D-21–00,057, business.industry, Precision medicine, Infant, General Medicine, Spinal muscular atrophy, Diaphragm function, medicine.disease, Personalized medicine, Diaphragm (structural system), DNA-Binding Proteins, medicine.anatomical_structure, Dyspnea, 030228 respiratory system, Respiratory failure, Breathing, Cardiology, Female, business, 030217 neurology & neurosurgery, Neuromuscular disorders, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::766edd07ddfe56358741c97170c62b91Test
http://hdl.handle.net/10807/205916Test -
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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 -
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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: Marco Luigetti, Marika Pane, Concetta Palermo, Francesco Danilo Tiziano, Leonardo Lapenta, Domiziana Ranalli, Roberto De Sanctis, Stefania Fiori, Eugenio Mercuri, Emanuela Abiusi
المصدر: Neuromuscular disorders : NMD. 27(10)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Pediatrics, Gene Dosage, SMN1, Asymptomatic, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetics (clinical), Sequence Deletion, Motor Neurons, business.industry, Homozygote, Infant, Spinal muscular atrophy, medicine.disease, SMA, Survival of Motor Neuron 1 Protein, Peripheral blood, Surgery, Tendon, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, Reflex, Female, Neurology (clinical), Motor action, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f351533c3a29beabb7ce1833a0e65f2fTest
https://pubmed.ncbi.nlm.nih.gov/28797588Test -
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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 -
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المؤلفون: Maria Sframeli, Valentina Lanzillotta, Gian Luca Vita, Antonella Pini, Grazia D'Angelo, Concetta Palermo, Adele D'Amico, Roberta Petillo, Elena Iotti, Maria Pia Sormani, Enrico Bertini, Filippo Cavallaro, Serena Sivo, Flaviana Bianco, Adelina Carlesi, Giovanni Baranello, Elena S. Mazzone, Marika Pane, Emanuela Viggiano, Enrica Rolle, Giorgia Olivieri, Tiziana Mongini, Angela Berardinelli, Roberto De Sanctis, Roberta Battini, Eugenio Mercuri, Andrea Barp, Ksenija Gorni, Alice Gardani, Marianna Scutifero, Elena Pegoraro, Serena Bonfiglio, Lavinia Fanelli, Luca Bello, Luisa Politano, Claudio Bruno, Silvia Frosini, Sonia Messina
المساهمون: Pane, M, Fanelli, L, Mazzone, E, Olivieri, G, D'Amico, A, Messina, S, Scutifero, M, Battini, R, Petillo, R, Frosini, S, Sivo, S, Vita, Gl, Bruno, C, Mongini, T, Pegoraro, E, De Sanctis, R, Gardani, A, Berardinelli, A, Lanzillotta, V, Carlesi, A, Viggiano, E, Cavallaro, F, Sframeli, M, Bello, L, Barp, A, Bianco, F, Bonfiglio, S, Rolle, E, Palermo, C, D'Angelo, G, Pini, A, Iotti, E, Gorni, K, Baranello, G, Bertini, E, Politano, Luisa, Sormani, Mp, Mercuri, E.
المصدر: Neuromuscular Disorders
مصطلحات موضوعية: Male, Longitudinal study, Pediatrics, Neurology, Duchenne muscular dystrophy, Elbow, Glucocorticoids, Non ambulant, PUL, Upper limb, Neurology (clinical), Pediatrics, Perinatology and Child Health, Genetics (clinical), Genetics(clinical), Longitudinal Studies, Muscular Dystrophy, Young adult, Child, steroid, Perinatology and Child Health, medicine.anatomical_structure, Treatment Outcome, Cohort, Adolescent, Adult, Humans, Muscular Dystrophy, Duchenne, Recovery of Function, Upper Extremity, Young Adult, Glucocorticoid, medicine.drug, medicine.medical_specialty, Clinical Neurology, Article, DMD, medicine, Pediatrics, Perinatology, and Child Health, business.industry, medicine.disease, Duchenne, Physical therapy, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10970441b480e4d36b2b8b4699402585Test
http://hdl.handle.net/11568/951093Test -
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المؤلفون: Francesca Pantaleoni, Giovanna Mascolo, Giuseppe Zampino, Chiara Leoni, Silvia Persichilli, David A. Stevenson, Marco Tartaglia, P. Caradonna, Lucilla Martini, Sara De Santis, Roberto De Sanctis, Ilaria La Torraca
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Biochemistry, Proto-Oncogene Mas, Bone remodeling, Body Mass Index, Young Adult, Endocrinology, Absorptiometry, Photon, Settore BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA, Costello syndrome, Bone Density, Internal medicine, Genetics, medicine, Humans, Femur, Neurofibromatosis, Child, Molecular Biology, Dual-energy X-ray absorptiometry, Femoral neck, Bone mineral, 25-Hydroxyvitamin D 2, Lumbar Vertebrae, medicine.diagnostic_test, business.industry, Femur Neck, Costello Syndrome, medicine.disease, medicine.anatomical_structure, costello sindrome, Case-Control Studies, Body Composition, Noonan syndrome, Female, business, bone mineral density, Body mass index
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d68dd318ca59e69dbdb990cf4f49bf7eTest
http://hdl.handle.net/10807/57518Test