المؤلفون: Carmelo Messina, Elena Passeri, G. Meola, Valeria A. Sansone, Luca Maria Sconfienza, Sabrina Corbetta

المصدر: Neuromuscular Disorders. 30:28-34

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Osteoporosis, Myotonic dystrophy, Body Mass Index, Fractures, Bone, 03 medical and health sciences, Absorptiometry, Photon, 0302 clinical medicine, Insulin resistance, Bone Density, Internal medicine, medicine, Humans, Myotonic Dystrophy, Testosterone, Mass index, Muscle, Skeletal, Pelvic Bones, Genetics (clinical), Bone mineral, business.industry, Skeletal muscle, Middle Aged, medicine.disease, Osteopenia, Bone Diseases, Metabolic, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Body mass index, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44f89558b3f08f80061fef61cb4c4dc0Test
https://doi.org/10.1016/j.nmd.2019.11.006Test

المؤلفون: Nancy L. Kuntz, Julie A. Parsons, Russell J. Butterfield, Francy Shu, Sandra P. Reyna, Janbernd Kirschner, Sarah Gheuens, Marco Petrillo, Darryl C. De Vivo, Kathryn J. Swoboda, Christopher Stebbins, Wildon Farwell, Wuh-Liang Hwu, Haluk Topaloglu, Enrico Bertini, Kristina Johnson, Richard Foster, Douglas A. Kerr, Valeria A. Sansone, Monique M. Ryan, Tawfeg Ben-Omran, Stephanie Fradette, Ishir Bhan, Thomas O. Crawford, Richard S. Finkel, Alfred Sandrock, John F. Staropoli, Yuh-Jyh Jong, Gabriel Braley

المصدر: Neuromuscular Disorders

مصطلحات موضوعية: 0301 basic medicine, Newborn screening, Male, Weakness, Pediatrics, medicine.medical_specialty, Time Factors, Oligonucleotides, Presymptomatic, Neurofilament, Motor Activity, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Nusinersen, Medicine, Humans, Adverse effect, Genetics (clinical), business.industry, Infant, Newborn, Infant, Spinal muscular atrophy, SMA, medicine.disease, Muscle atrophy, Clinical trial, Survival of Motor Neuron 2 Protein, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009a698a6201cae9a42c7310edf09bf6Test
http://europepmc.org/articles/PMC7127286Test

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: Jacqueline Montes, Marika Pane, Enrico Bertini, Francesco Muntoni, Maria Carmela Pera, Anna Lia Frongia, Amy Pasternak, Eugenio Mercuri, Valeria A. Sansone, John W. Day, Maria Sframeli, Francesca Salmin, Adele D'Amico, Matthew Civitello, Simona Lucibello, Sally Dunaway Young, Claudio Bruno, Laura Antonaci, Giorgia Coratti, Sara Carnicella, Tina Duong, Darryl C. De Vivo, Richard S. Finkel, Allan M. Glanzman, Sonia Messina, Paola Tacchetti, Basil T. Darras

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Cohort Studies, Upper Extremity, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Age related, Nusinersen, medicine, Functional outcome measures, Hammersmith Functional Motor Scale Expanded, Revised Upper Limb Module, Spinal Muscular Atrophy, Age Factors, Child, Child, Preschool, Female, Humans, Linear Models, Multivariate Analysis, Treatment effect, Preschool, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, SMA, Spinal muscular atrophy type II, Natural history, 030104 developmental biology, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Cohort, Upper limb, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506d0065b03b941235c643e5f4d33786Test
http://hdl.handle.net/11567/1087190Test

المؤلفون: Emilio Albamonte, Adele D'Amico, Sonia Messina, Valeria A. Sansone, Luca Mauro, Susanna Pozzi, Maria Carmela Pera, Marika Pane, Andrea Lizio, Enrico Bertini, Cristina Italiano, Claudio Bruno, Lucia Greco, Giorgia Coratti, Christine Zizzi, Alice Pirola, Maria Sframeli, Claudia Stancanelli, Chad Heatwole, Francesca Salmin, Jacopo Casiraghi, Eugenio Mercuri, Marina Pedemonte

مصطلحات موضوعية: 0301 basic medicine, Male, Severity of Illness Index, Internal validity, Cohort Studies, 0302 clinical medicine, Cost of Illness, Surveys and Questionnaires, Medicine, Child, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Middle Aged, SMA, Muscular Atrophy, medicine.anatomical_structure, Test-retest reliability, Neurology, Italy, Cohort, Upper limb, Spinal muscular atrophy health index, Patient-reported outcome, Female, Adult, medicine.medical_specialty, Adolescent, Spinal, Muscular Atrophy, Spinal, 03 medical and health sciences, Patient-reported outcomes, Spinal muscular atrophy, Humans, Quality of Life, Reproducibility of Results, Translations, Patient Reported Outcome Measures, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Cronbach's alpha, Disease burden, business.industry, medicine.disease, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Physical therapy, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f7d219115205388497280afb4c47d6aTest
http://hdl.handle.net/10807/182752Test

المؤلفون: Gaia Gragnano, Chad Heatwole, Marino Iatomasi, Andrea Lizio, Lucia Greco, A. Zanolini, Marco Gualandris, Valeria A. Sansone

المصدر: Neuromuscular Disorders. 27:1047-1053

مصطلحات موضوعية: Male, medicine.medical_specialty, Intraclass correlation, Culture, Concurrent validity, Severity of Illness Index, Myotonic dystrophy, 03 medical and health sciences, 0302 clinical medicine, Cost of Illness, Quality of life, Humans, Myotonic Dystrophy, Medicine, Respiratory function, Patient Reported Outcome Measures, 030212 general & internal medicine, Genetics (clinical), Disease burden, business.industry, Reproducibility of Results, Middle Aged, Translating, medicine.disease, Clinical trial, Neurology, Pediatrics, Perinatology and Child Health, Cohort, Quality of Life, Physical therapy, Female, Self Report, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c17458fdde580e8b382b8b65f3a9c962Test
https://doi.org/10.1016/j.nmd.2017.07.004Test

المؤلفون: Ingeborg Meijer, Hanns Lochmüller, Ros Quinlivan, George W. Padberg, Aad Tibben, Alexandre Méjat, Anna Ambrosini, Alexandra Breukel, Guus Schrijvers, Valeria A. Sansone, Raffaella Willmann, Michal Rataj, Maarten de Wit, Ellen Sterrenburg

المساهمون: Goemans, Nathalie, Ethics, Law & Medical humanities, Schara, Ulrike (Beitragende*r)

المصدر: Ambrosini, A, Quinlivan, R, Sansone, V A, Meijer, I, Schrijvers, G, Tibben, A, Padberg, G, De Wit, M, Sterrenburg, E, Mejat, A, Breukel, A, Rataj, M, Lochmüller, H, Willmann, R & 235th ENMC workshop study group 2019, ' "be an ambassador for change that you would like to see" : A call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 126 . https://doi.org/10.1186/s13023-019-1103-8Test
Orphanet Journal of Rare Diseases, 14, e126
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-12 (2019)
Orphanet Journal of Rare Diseases, 14(1):126. BioMed Central

مصطلحات موضوعية: 0301 basic medicine, PATIENT PARTICIPATION, INVOLVEMENT, Biomedical Research, Decision Making, Medizin, Patient engagement, lcsh:Medicine, 030105 genetics & heredity, Research & Experimental Medicine, Marketing authorization, DIAGNOSIS, DUCHENNE MUSCULAR-DYSTROPHY, 03 medical and health sciences, 0302 clinical medicine, Cultural diversity, Health care, Co-creation, MANAGEMENT, Humans, Pharmacology (medical), Patient involvement, Genetics (clinical), Genetics & Heredity, Medical education, Science & Technology, business.industry, RESEARCH-AND-DEVELOPMENT, Research, lcsh:R, Healthcare, General Medicine, Biobank, Call to action, MODEL, Neuromuscular diseases, Medicine, Research & Experimental, General partnership, Quality of Life, Patient-reported outcome, Psychology, business, SHARED DECISION-MAKING, RARE DISEASES, FOLLOW-UP, Life Sciences & Biomedicine, 030217 neurology & neurosurgery

وصف الملف: Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afe7ea9d22ab755d69e4bee38034b7bcTest
https://research.vumc.nl/en/publications/082020f2-e0cc-44c3-90d2-fbc2c696ac19Test

المؤلفون: Sally Dunaway Young, Valeria A. Sansone, Matthew Civitello, Maria Carmela Pera, Giorgia Coratti, Amy Pasternack, Susan A. Hall, Rachel Salazar, Eugenio Mercuri, Laura Antonaci, Claudio Bruno, Jacqueline Montes, Mariacristina Scoto, Emilio Albamonte, Susan Eaton, Concetta Palermo, Salma Samsuddin, Adele D'Amico, Tina Duong, Roberto De Sanctis, Basil T. Darras, Annalia Frongia, Francesco Muntoni, Aisha Rashid, Richard S. Finkel, Enrico Bertini, Darryl C. De Vivo, Maria Sframeli, Allan Glanzmann, Giuseppe Vita, Beatrice Berti, Sonia Messina, Julia Balashkina, John W. Day, Daniela Leone, Marika Pane

مصطلحات موضوعية: 0301 basic medicine, Spinal, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Disease registry, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Humans, Prospective Studies, Registries, Genetics (clinical), Final version, Medical education, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Research, Neuromuscular disorders, Spinal muscular atrophy, Data dictionary, United Kingdom, Identification (information), Muscular Atrophy, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Italy, General partnership, New disease, Pediatrics, Perinatology and Child Health, Cohort, Neurology (clinical), Business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82cec70572d78f4eea3195e9db7ac087Test
http://hdl.handle.net/10807/215447Test

المؤلفون: Adele D'Amico, Giulia Colia, Giulia Norcia, Adnan Y. Manzur, Eugenio Mercuri, Valeria A. Sansone, Claudia Brogna, Marika Pane, Gian Luca Vita, Anne M. Connolly, Enrico Bertini, Terri Carry, Francesco Muntoni, Maria Teresa Arnoldi, Valeria Ricotti, Giovanni Baranello, Francesca Salmin, Simona Lucibello, Angela Berardinelli, Emilio Albamonte, Julie A. Parsons, Alice Gardani, Lianne Abbott, Giorgia Coratti, Sonia Messina, Marion Main

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Duchenne muscular dystrophy, Severity of Illness Index, 03 medical and health sciences, Outcome measure, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Duchenne Muscular dystrophy, Neuromuscular disorders, North Star Ambulatory Assessment, Outcome measure, Adrenal Cortex Hormones, Outcome Assessment, Health Care, medicine, North Star Ambulatory Assessment, Humans, Prospective Studies, Child, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Disease progression, Assessment scale, medicine.disease, Natural history, Muscular Dystrophy, Duchenne, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Neuromuscular Agents, Child, Preschool, Pediatrics, Perinatology and Child Health, Ambulatory, Disease Progression, Multiple linear regression analysis, Neurology (clinical), business, Superior Sagittal Sinus, Duchenne Muscular dystrophy, 030217 neurology & neurosurgery, Neuromuscular disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87fe9af31cba2112b8b51a6b78350ce8Test
http://hdl.handle.net/10807/182742Test

المؤلفون: Giorgia Coratti, Marika Pane, Simona Lucibello, Sonia Messina, Michela Catteruccia, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Francesco Danilo Tiziano, Roberto De Sanctis, Eugenio Mercuri, Enrico Bertini, Concetta Palermo, Giuseppe Vita, Giorgia Brigati, Adele D'Amico, Claudio Bruno, Valeria A. Sansone

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Adolescent, Treatment duration, Oligonucleotides, Neurological examination, CHOP, Spinal Muscular Atrophies of Childhood, CHOP INTEND, Hammersmith Infant Neurological Examination, Nusinersen, Spinal Muscular Atrophy, Werdnig Hoffmann disease, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Genetics (clinical), Motor function, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, SMA, Young adult, Child, Neurologic Examination, medicine.diagnostic_test, business.industry, Infant, Perinatology and Child Health, 030104 developmental biology, Treatment Outcome, Motor Skills, Child, Preschool, Female, business, 030217 neurology & neurosurgery, Werdnig-hoffmann disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7f169dbe7635d6c50876f67a0733c9bTest
http://hdl.handle.net/11570/3128391Test