المؤلفون: Valeria A. Sansone, Andrea Barp, Christian Lunetta, Andrea Lizio, Luca Mauro, Francesca Gerardi, Claudia Tarlarini

المصدر: Clinical Neurophysiology. 132:1564-1571

مصطلحات موضوعية: Male, Oncology, Vital capacity, medicine.medical_specialty, Vital Capacity, Neural Conduction, 050105 experimental psychology, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, Physiology (medical), Internal medicine, Outcome Assessment, Health Care, medicine, Humans, 0501 psychology and cognitive sciences, In patient, Amyotrophic lateral sclerosis, Aged, medicine.diagnostic_test, Electromyography, business.industry, Amyotrophic Lateral Sclerosis, 05 social sciences, Disease progression, Outcome measures, Middle Aged, Neurophysiology, medicine.disease, Sensory Systems, Cross-Sectional Studies, Neurology, Disease Progression, Nerve conduction study, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e13bde8be9467f93c88b275fa8aa6c2Test
https://doi.org/10.1016/j.clinph.2021.02.394Test

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

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

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

المؤلفون: Lucio Tremolizzo, Valeria A. Sansone, Andrea Lizio, Jonica Campolo, Christian Lunetta, Claudia Tarlarini, Francesca Gerardi, Lorena Mosca, Cinzia Dellanoce, Susanna Diamanti, Massimo Filippi, Nilo Riva

المساهمون: Lunetta, C, Lizio, A, Gerardi, F, Tarlarini, C, Filippi, M, Riva, N, Tremolizzo, L, Diamanti, S, Dellanoce, C, Mosca, L, Sansone, V, Campolo, J, Lunetta, C., Lizio, A., Gerardi, F., Tarlarini, C., Filippi, M., Riva, N., Tremolizzo, L., Diamanti, S., Dellanoce, C. C., Mosca, L., Sansone, V. A., Campolo, J.

المصدر: Journal of neurology. 267(12)

مصطلحات موضوعية: medicine.medical_specialty, Neurology, Prognosi, Urinary system, Urine, Disease, Gastroenterology, Neopterin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, Humans, 030212 general & internal medicine, Respiratory system, Amyotrophic lateral sclerosis, business.industry, Amyotrophic Lateral Sclerosis, Biomarker, Prognosis, medicine.disease, Cross-Sectional Studies, chemistry, Disease Progression, Biomarker (medicine), Neurology (clinical), business, 030217 neurology & neurosurgery, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e70d625771e8e0297be774cd14018b52Test
https://pubmed.ncbi.nlm.nih.gov/33833664Test

المؤلفون: S. Messina, Mariacristina Scoto, J. Day, Richard S. Finkel, Alessandra D'Amico, E. Bertini, Basil T. Darras, A. Nascimiento, Marika Pane, Nathalie Goemans, Eugenio Mercuri, Darryl C. De Vivo, F. Muntoni, Maria Carmela Pera, Giorgia Coratti, Valeria A. Sansone

المصدر: Neuromuscular Disorders. 29:S131

مصطلحات موضوعية: medicine.medical_specialty, Neurology, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, Disease progression, Medicine, Neurology (clinical), business, SMA, Genetics (clinical), Month follow up

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7ac2cb237f77cebb6c3e88ba9058da1bTest
https://doi.org/10.1016/j.nmd.2019.06.335Test

المؤلفون: Elisa De Mattia, Andrea Lizio, Elena Carraro, Christian Lunetta, Giulia Sannicolò, Fabrizio Rao, Alice Pirola, Valeria A. Sansone

المصدر: Clinical Neurology and Neurosurgery. 184:105456

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Vital capacity, Supine position, Vital Capacity, Pulmonary function testing, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, Internal medicine, medicine, Humans, Respiratory function, Functional ability, Amyotrophic lateral sclerosis, Survival analysis, Aged, business.industry, Amyotrophic Lateral Sclerosis, General Medicine, Middle Aged, Prognosis, medicine.disease, Survival Analysis, Respiratory Function Tests, 030220 oncology & carcinogenesis, Disease Progression, Female, Surgery, Neurology (clinical), Respiratory Insufficiency, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f927e452422bd41870de19c211b6f890Test
https://doi.org/10.1016/j.clineuro.2019.105456Test

المؤلفون: Carlo Scialò, Claudia Caponnetto, Paolo Volanti, Nicola Fini, G. Drago Ferrante, Jessica Mandrioli, Gabriele Mora, L. Ferri, Vincenzo Silani, Nilo Riva, Gianni Sorarù, Elisabetta Zucchi, Nicola Ticozzi, Yuri Matteo Falzone, Christian Lunetta, Rosanna Tortelli, Giorgia Querin, Kalliopi Marinou, Amelia Conte, Adriano Chiò, Mario Sabatelli, Andrea Calvo, Valeria A. Sansone, Giandomenico Logroscino, Francesca Trojsi, Sonia Messina, Cristina Moglia, Antonio Fasano, Massimo Russo, M. R. Monsurrò

المصدر: European journal of neurology. 25(6)

مصطلحات موضوعية: Male, medicine.medical_specialty, hypertension, Delayed Diagnosis, Heart disease, Comorbidity, 030204 cardiovascular system & hematology, survival, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, amyotrophic lateral sclerosis, atrial fibrillation, heart diseases, platelet disorders, prognostic factors, medicine, Dementia, Amyotrophic lateral sclerosis, atrial fibrillation, heart diseases, hypertension, platelet disorders, prognostic factors, survival, Neurology, Neurology (clinical), Humans, Amyotrophic lateral sclerosis, Depression (differential diagnoses), Aged, Retrospective Studies, business.industry, Incidence, valvular heart disease, Amyotrophic Lateral Sclerosis, Atrial fibrillation, Middle Aged, medicine.disease, Prognosis, Settore MED/26 - NEUROLOGIA, Cardiovascular Diseases, Disease Progression, Female, Italy, Phenotype, Neurology, Heart failure, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbbced503f431fc3376ab6de0eee8d78Test
https://pubmed.ncbi.nlm.nih.gov/29512869Test

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

المؤلفون: Richard T. Moxley, Maria Cotelli, Charles A. Thornton, Giovanni Meola, L. De Ambroggi, K. Marinou, Valeria A. Sansone

المصدر: Journal of the Neurological Sciences. 193:89-96

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Cardiac conduction disturbances, Heart disease, Myotonic dystrophy, Proximal myotonic myopathy, Electrocardiography, Heart Conduction System, Internal medicine, Humans, Myotonic Dystrophy, Medicine, Muscle Weakness, medicine.diagnostic_test, business.industry, Muscle weakness, Arrhythmias, Cardiac, Middle Aged, Right bundle branch block, Prognosis, medicine.disease, Myotonia, Surgery, Neurology, Echocardiography, Disease Progression, Cardiology, Female, Neurology (clinical), medicine.symptom, business, Myotonic Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8b47324d52afe4d96c4237afc3f447dTest
https://doi.org/10.1016/s0022-510xTest(01)00649-9