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: Michael Hunter, Elizabeth Luebbe, Christine Zizzi, Craig M. Zaidman, Emma Ciafaloni, Valeria A. Sansone, Nicholas E. Johnson, Phillip Mongiovi, Nuran Dilek, Connie Garland, Chad Heatwole, Michael P. McDermott, John T. Kissel

المصدر: MusclenerveREFERENCES. 63(6)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Physiology, Intraclass correlation, Disease, 030105 genetics & heredity, Severity of Illness Index, Muscular Atrophy, Spinal, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Cronbach's alpha, Quality of life, Physiology (medical), medicine, Humans, Patient Reported Outcome Measures, Disease burden, Reliability (statistics), Aged, business.industry, Spinal muscular atrophy, Middle Aged, SMA, medicine.disease, Cross-Sectional Studies, Physical therapy, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4ce4d21813b3a9799551b1f25d815d3Test
https://pubmed.ncbi.nlm.nih.gov/33711174Test

المؤلفون: Guja Astrea, Kiera Berggren, Jennifer N. Baldwin, Francesca Salmin, Kameron Bates, Nicholas E. Johnson, Jacopo Casiraghi, Kellen H. Quigg, Joshua Burns, Federica Ricci, Adele DʼAmico, Melissa McIntyre, Marnee J. McKay, Craig Campbell, Valeria A. Sansone

المصدر: Paediatrics Publications
Muscle Nerve

مصطلحات موضوعية: Male, 0301 basic medicine, Physiology, Functional testing, mobility measures, 030105 genetics & heredity, Grip strength, Child Development, 0302 clinical medicine, Activities of Daily Living, Myotonic Dystrophy, Child, education.field_of_study, Communication, Motor Skills, Child, Preschool, Cohort, Disease Progression, Female, Six Minute Walk Test, Cohort study, medicine.medical_specialty, Adolescent, congenital myotonic dystrophy, functional outcomes, myotonic dystrophy, Population, Walk Test, Article, Myotonin-Protein Kinase, 03 medical and health sciences, Cellular and Molecular Neuroscience, Physiology (medical), medicine, Humans, Muscle Strength, Social Behavior, education, business.industry, Infant, Newborn, Infant, Vineland Adaptive Behavior Scale, Clinical trial, Physical therapy, Observational study, Neurology (clinical), Trinucleotide Repeat Expansion, business, human activities, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ecefca0967ee8b41a6b80aa26df57b6Test
https://ir.lib.uwo.ca/paedpub/1436Test

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: Christian Lunetta, Cristina Faraone, Riccardo Zuccarino, Giuseppe Vita, Stefania La Foresta, Andrea Lizio, Gian Luca Vita, Massimo Russo, Sonia Messina, Valeria A. Sansone, Maria Sframeli

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Scientific Reports

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Concordance, lcsh:Medicine, Walk Test, Walking, Article, ALSFRS, Correlation, Outcome measure, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, Physical medicine and rehabilitation, 030502 gerontology, 6MWT, Outcome Assessment, Health Care, medicine, Content validity, Humans, Amyotrophic lateral sclerosis, lcsh:Science, Aged, Aged, 80 and over, Multidisciplinary, business.industry, Amyotrophic Lateral Sclerosis, lcsh:R, Middle Aged, 6MWT, Amyotrophic lateral sclerosis, Outcome measure, 10MWT, ALSFRS, medicine.disease, Test (assessment), Clinical trial, 10MWT, Cohort, Disease Progression, Diseases of the nervous system, Female, lcsh:Q, 0305 other medical science, business, 030217 neurology & neurosurgery, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79e6ac6583e0e2f025e2652952d016f9Test
https://doi.org/10.1038/s41598-020-72578-3Test

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: Samantha LoRusso, Nicholas E. Johnson, Michael P. McDermott, Katy Eichinger, Russell J. Butterfield, Elena Carraro, Kiley Higgs, Leann Lewis, Karlien Mul, Sabrina Sacconi, Valeria A. Sansone, Perry Shieh, Baziel van Engelen, Kathryn Wagner, Leo Wang, Jeffrey M. Statland, Rabi Tawil, on behalf of the ReSolve Investigators and the FSHD CTRN18

المصدر: BMC Neurology, 19, 1
BMC Neurology, Vol 19, Iss 1, Pp 1-13 (2019)
BMC Neurology
BMC Neurology, 19

مصطلحات موضوعية: medicine.medical_specialty, Functional testing, Outcome measures, lcsh:RC346-429, Manual Muscle Testing, 03 medical and health sciences, Study Protocol, 0302 clinical medicine, Physical medicine and rehabilitation, All institutes and research themes of the Radboud University Medical Center, Drug Development, Facioscapulohumeral muscular dystrophy, Medicine, Humans, Longitudinal Studies, Prospective Studies, Prospective cohort study, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, 0303 health sciences, business.industry, Electromyography, Clinical study design, Reproducibility of Results, General Medicine, medicine.disease, Muscular dystrophy, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Muscular Dystrophy, Facioscapulohumeral, 3. Good health, Clinical trial, Drug development, Disease Progression, Biomarker (medicine), Electrical impedance Myography, Neurology (clinical), business, 030217 neurology & neurosurgery, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1afa5c10b18d1c1ccb716f8ccc530edTest
https://hdl.handle.net/2066/207947Test

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