-
1
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 -
2
المؤلفون: Christian Lunetta, Andrea Lizio, Corrado Cabona, Francesca Gerardi, Valeria Ada Sansone, Massimo Corbo, Carlo Scialò, Emanuele Angelucci, Francesca Gualandi, Paola Marenco, Giovanni Grillo, Roberto Cairoli, Clara Cesana, Riccardo Saccardi, Mario Giovanni Melazzini, Gianluigi Mancardi, Claudia Caponnetto
المساهمون: Lunetta, L, Lizio, A, Cabona, C, Gerardi, F, Sansone, V, Corbo, M, Scialo, C, Angelucci, E, Gualandi, F, Marenco, P, Grillo, G, Cairoli, R, Cesana, C, Saccardi, R, Melazzini, M, Mancardi, G, Caponnetto, C
مصطلحات موضوعية: Male, Disease progression, Transplantation Conditioning, Neurology, Amyotrophic Lateral Sclerosis, T-reg, Quality of Life, Humans, Hematopoietic stem cell transplantation, Neurology (clinical), Transplantation, Autologous, Cyclophosphamide, Amyotrophic lateral sclerosi
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b413c657f6e4b664154c43a3b03ee284Test
https://hdl.handle.net/10281/403678Test -
3
المؤلفون: Sonia Messina, Claudio Bruno, E. Mazzone, Eugenio Mercuri, Valeria A. Sansone, Claudia Brogna, Gianluca Vita, Francesco Muntoni, Marika Pane, Tiziana Mongini, Giovanni Baranello, Erik H. Niks, Mary Chesshyre, Francesca Magri, Volker Straub, Enrico Bertini, Elena Pegoraro, Luca Bello, Alice Donati, Silvana De Lucia, Stefano C. Previtali, Valeria Ricotti, Adele D'Amico, Jean-Yves Hogrel, Nathalie Goemans, Roberta Battini, Giacomo P. Comi, Laurent Servais, Giorgia Coratti, Federica Ricci, Imelda J. M. de Groot, Luisa Politano, Angela Berardinelli
المصدر: PLoS ONE, 16(6). PUBLIC LIBRARY SCIENCE
PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)مصطلحات موضوعية: Male, Heredity, Genetic Linkage, Epidemiology, Physiology, Duchenne muscular dystrophy, Walking, Duchenne Muscular Dystrophy, Severity of Illness Index, Muscular Dystrophies, Dystrophin, Exon, 0302 clinical medicine, Medical Conditions, Medicine and Health Sciences, 030212 general & internal medicine, Muscular Dystrophy, Longitudinal Studies, Child, Baseline values, Multidisciplinary, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Organic Compounds, Men, Exons, Multidisciplinary Sciences, Chemistry, Deletion Mutation, Neurology, X-Linked Traits, Sex Linkage, Ambulatory, Physical Sciences, Disease Progression, Medicine, Science & Technology - Other Topics, Steroids, exon skipping, Research Article, medicine.medical_specialty, Science, Natural history of disease, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Genetics, Humans, Clinical Genetics, Science & Technology, business.industry, Biological Locomotion, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Human Genetics, medicine.disease, Duchenne, Human genetics, Exon skipping, Follow-Up Studies, Muscular Dystrophy, Duchenne, Mutation, Clinical trial, Natural History of Disease, Medical Risk Factors, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf; Electronic-eCollection
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de7208ef0a5c3984e1eb8d2853199ed7Test
http://hdl.handle.net/1887/3249481Test -
4
المؤلفون: Irene Meola, Maria Teresa Rinaudo, Giovanni de Marco, Christian Lunetta, Paola Origone, Emilio Albamonte, Adriano Chiò, Cristina Moglia, Paola Mandich, Valeria A. Sansone, Annarosa Lomartire, Rosario Vasta, Antonio Canosa, Andrea Calvo, Umberto Manera, Paola Lanteri
مصطلحات موضوعية: 0301 basic medicine, Proband, Aging, medicine.medical_specialty, Heterozygote, Juvenile amyotrophic lateral sclerosis, Gene Expression, Loss of Heterozygosity, Gene mutation, medicine.disease_cause, FUS gene, 03 medical and health sciences, Exon, 0302 clinical medicine, Internal medicine, medicine, Humans, Cognitive Dysfunction, RNA, Messenger, Truncated FUS protein expression, Child, Genetic Association Studies, Mutation, biology, business.industry, General Neuroscience, Amyotrophic Lateral Sclerosis, Wild type, Exons, 030104 developmental biology, Endocrinology, biology.protein, Disease Progression, RNA-Binding Protein FUS, Female, Neurology (clinical), Geriatrics and Gerontology, Antibody, business, 030217 neurology & neurosurgery, Nuclear localization sequence, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c9399758a8ee88ea463149dac02123Test
http://hdl.handle.net/2318/1778138Test -
5
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 -
6
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 -
7
المؤلفون: Gabriele Mora, Christian Lunetta, Stanley H. Appel, Valeria A. Sansone, Robert G. Miller, Adriano Chiò, Andrea Lizio, Eleonora Maestri
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Population, Placebo, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Internal medicine, Post-hoc analysis, medicine, Humans, Immunologic Factors, Registries, Amyotrophic lateral sclerosis, education, Original Investigation, Aged, education.field_of_study, Amyotrophic Lateral Sclerosis, Biomarkers, C-Reactive Protein, Female, Follow-Up Studies, Middle Aged, Disease Progression, Neurology (clinical), biology, business.industry, Hazard ratio, C-reactive protein, medicine.disease, Surgery, 030104 developmental biology, Cohort, biology.protein, Biomarker (medicine), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75b0a4f16c49b6bf538bb6e2c0b94d15Test
http://hdl.handle.net/2318/1673187Test