نتائج البحث - "Rossella Tupler"

1

Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases

المؤلفون: Matteo Beretta-Piccoli, Massimo Negro, Luca Calanni, Angela Berardinelli, Gabriele Siciliano, Rossella Tupler, Emiliano Soldini, Corrado Cescon, Giuseppe D’Antona

المصدر: Frontiers in Physiology, Vol 12 (2021)
Frontiers in Physiology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9c9f4d42c8d1122eb9ee49451d20b45Test
https://doi.org/10.3389/fphys.2021.686176Test

2

Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy

المؤلفون: Angela Berardinelli, Corrado Cescon, Massimo Negro, Giulia Ricci, Luca Calanni, Emiliano Soldini, Matteo Beretta-Piccoli, Gabriele Siciliano, Rossella Tupler, Cinzia Bettio, Giuseppe D'Antona, Marco Barbero

المصدر: European Journal of Applied Physiology

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, medicine.medical_specialty, Neuromuscular disease, Facioscapulohumeral, Physiology, Elbow, Isometric exercise, Electromyography, Biceps brachii, Dystrophy, Fatigability, Arm, Case-Control Studies, Cross-Sectional Studies, Female, Humans, Isometric Contraction, Muscle Fatigue, Muscular Dystrophy, Facioscapulohumeral, Physical Endurance, Biceps, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Internal medicine, medicine, Facioscapulohumeral muscular dystrophy, Orthopedics and Sports Medicine, Muscular Dystrophy, medicine.diagnostic_test, business.industry, Public Health, Environmental and Occupational Health, Muscle weakness, 030229 sport sciences, General Medicine, medicine.disease, medicine.anatomical_structure, Cardiology, Original Article, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b77dbd76d051a4783862369f29f58591Test
https://doi.org/10.1007/s00421-021-04650-3Test

3

Facioscapulohumeral Muscular Dystrophy and Poliomyelitis followed by Multiple Sclerosis: A 'triple trouble' case report and review of the literature on the association of MS and muscle disorders

المؤلفون: Antonio Toscano, Rossella Tupler, Carmelo Rodolico, Maria Buccafusca, Vincenzo Rizzo, Vanessa Ziccone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::018c5360b4d6eb7d3d9303a16f3b7a09Test
http://hdl.handle.net/11570/3208853Test

4

Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

المساهمون: Ricci, G., Mele, F., Govi, M., Ruggiero, L., Sera, F., Vercelli, L., Bettio, C., Santoro, L., Mongini, T., Villa, L., Moggio, M., Filosto, M., Scarlato, M., Previtali, S. C., Tripodi, S. M., Pegoraro, E., Telese, R., Di Muzio, A., Rodolico, C., Bucci, E., Antonini, G., D'Angelo, M. G., Berardinelli, A., Maggi, L., Piras, R., Maioli, M. A., Siciliano, G., Tomelleri, G., Angelini, C., Tupler, R.

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Scientific Reports

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Weakness, Genotype, Facioscapulohumeral, Science, Genetic counseling, 030105 genetics & heredity, Article, 03 medical and health sciences, Medical research, 0302 clinical medicine, medicine, Facioscapulohumeral muscular dystrophy, Humans, Muscular Dystrophy, Allele, Myopathy, Alleles, Genetics, FSHD, Multidisciplinary, Molecular medicine, business.industry, Facial weakness, Female, Muscular Dystrophy, Facioscapulohumeral, Phenotype, medicine.disease, Penetrance, D4Z4 borderline alleles, Genotype-Phenotype, Neurology, Risk factors, Medicine, medicine.symptom, business, 030217 neurology & neurosurgery, facioscapulohumeral muscular dystrophy D4Z$ fragment borderline, Human

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ccf4bfb92dfb033cc222e478de4938Test
http://hdl.handle.net/2318/1785955Test

5

Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy

المؤلفون: Stefania Murru, Loredana Boccone, Carmelo Rodolico, Francesco Sera, Teresa Brizzi, L. Passamano, Rossella Tupler, Simona Portaro, Luisa Politano

المساهمون: Rodolico, Carmelo, Politano, Luisa, Portaro, Simona, Murru, Stefania, Boccone, Loredana, Sera, Francesco, Passamano, Luigia, Brizzi, Teresa, Tupler, Rossella

المصدر: European Journal of Paediatric Neurology

مصطلحات موضوعية: musculoskeletal diseases, Male, Williams Syndrome, Williams-beuren syndrome, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, facioscapulohumeral muscular dystrophy, Chromosome Disorders, Williams' syndrome, Article, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Medicine, Facioscapulohumeral muscular dystrophy, Humans, cardiovascular diseases, deletion, Muscular dystrophy, Allele, Child, Alleles, Genetics, FSHD, business.industry, Infant, General Medicine, Gene deletion, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Italy, Child, Preschool, Pediatrics, Perinatology and Child Health, Facio-scapulo-humeral dystrophy, S. di Williams -Beuren, Neurology (clinical), National registry, Chromosomes, Human, Pair 4, business, 030217 neurology & neurosurgery, Gene Deletion