نتائج البحث - "Valeria A Sansone"

المساهمون: Gestionnaire, HAL Sorbonne Université 5, Radboud University Medical Center [Nijmegen], Ohio State University [Columbus] (OSU), University of Kansas Medical Center [Kansas City, KS, USA], David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California (UC)-University of California (UC), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), University of Rochester Medical Center (URMC), Institute of Neurology [London], University College of London [London] (UCL), Università degli Studi di Milano = University of Milan (UNIMI), University of Texas Southwestern Medical Center [Dallas], University of Kansas Medical Center [Lawrence], University of California-University of California, Centre de Recherche en Myologie, University of Milan

المصدر: Muscle & nerve. Supplement.
Muscle & nerve. Supplement., 2020, 62 (4), pp.430-444. ⟨10.1002/mus.26887⟩
Muscle Nerve
Muscle and Nerve, 62, 4, pp. 430-444
Muscle and Nerve, 62, 430-444

مصطلحات موضوعية: 0301 basic medicine, Physiology, Electromyography, 030105 genetics & heredity, 0302 clinical medicine, Ranolazine, Age of Onset, NAV1.4 Voltage-Gated Sodium Channel, Carbonic Anhydrase Inhibitors, Fatigue, Voltage-Gated Sodium Channel Blockers, Muscle Weakness, biology, medicine.diagnostic_test, Electrodiagnosis, skeletal muscle channelopathies, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, Muscle relaxation, Paramyotonia congenita, Practice Guidelines as Topic, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, myotonia congenita, management, medicine.drug, Myotonic Disorders, Sodium Channel Blockers, musculoskeletal diseases, Weakness, medicine.medical_specialty, Mexiletine, Lamotrigine, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Chloride Channels, Physiology (medical), Internal medicine, medicine, Humans, Genetic Testing, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Muscle, Skeletal, nondystrophic myotonias, CLCN1, Myotonia congenita, business.industry, Myalgia, medicine.disease, Myotonia, paramyotonia congenita, Acetazolamide, biology.protein, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ec05a1420fbda18f320e371bf7d797Test
https://hal.sorbonne-universite.fr/hal-03461673Test

8

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

المساهمون: Bello, L., D'Angelo, G., Villa, M., Fusto, A., Vianello, S., Merlo, B., Sabbatini, D., Barp, A., Gandossini, S., Magri, F., Comi, G. P., Pedemonte, M., Tacchetti, P., Lanzillotta, V., Trucco, F., D'Amico, A., Bertini, E., Astrea, G., Politano, L., Masson, R., Baranello, G., Albamonte, E., De Mattia, E., Rao, F., Sansone, V. A., Previtali, S., Messina, S., Vita, G. L., Berardinelli, A., Mongini, T., Pini, A., Pane, M., Mercuri, E., Vianello, A., Bruno, C., Hoffman, E. P., Morgenroth, L., Gordish-Dressman, H., Mcdonald, C. M., Pegoraro, E.

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 786-798 (2020)
Annals of Clinical and Translational Neurology

مصطلحات موضوعية: 0301 basic medicine, Male, Vital capacity, Duchenne muscular dystrophy, Vital Capacity, Gene mutation, Pulmonary function testing, Dystrophin, 0302 clinical medicine, Medicine, Respiratory function, Muscular Dystrophy, Child, Research Articles, General Neuroscience, Respiratory Function Tests, Child, Preschool, Cardiology, medicine.symptom, Respiratory Insufficiency, Research Article, RC321-571, Adult, medicine.medical_specialty, Adolescent, CD40 Antigens, Follow-Up Studies, Glucocorticoids, Humans, Muscular Dystrophy, Duchenne, Osteopontin, Retrospective Studies, Young Adult, Nonsense mutation, Neurosciences. Biological psychiatry. Neuropsychiatry, 03 medical and health sciences, FEV1/FVC ratio, Internal medicine, RC346-429, Preschool, business.industry, Muscle weakness, medicine.disease, Duchenne, 030104 developmental biology, Duchenne Muscular Dystrophy, Respiratory funcion, FVC, genetic modifiers, Neurology. Diseases of the nervous system, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91aab73f31387b267af70819a635b2b6Test
http://hdl.handle.net/11591/437225Test

9

Creatine kinase elevation: a neglected clue to the diagnosis of polymyositis. A case report

المؤلفون: Clementina Sitzia, Valeria A. Sansone, Massimiliano Marco Corsi Romanelli

المصدر: Clinical Chemistry and Laboratory Medicine (CCLM). 57:e149-e151

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94bf21528f79287a9f1d1ced2ec4c28fTest
https://doi.org/10.1515/cclm-2018-0928Test

10

Comparative Analysis of C9orf72 and Sporadic Disease in a Large Multicenter ALS Population: The Effect of Male Sex on Survival of C9orf72 Positive Patients

المساهمون: Trojsi, F., Siciliano, M., Femiano, C., Santangelo, G., Lunetta, C., Calvo, A., Moglia, C., Marinou, K., Ticozzi, N., Ferro, C., Scialo, C., Soraru, G., Conte, A., Falzone, Y. M., Tortelli, R., Russo, M., Sansone, V. A., Chio, A., Mora, G., Silani, V., Volanti, P., Caponnetto, C., Querin, G., Sabatelli, M., Riva, N., Logroscino, G., Messina, S., Fasano, A., Monsurro, M. R., Tedeschi, G., Mandrioli, J.

المصدر: Frontiers in Neuroscience, Vol 13 (2019)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6aa6d5e73e34b0ecc8a3f7886c5db1cTest
https://www.frontiersin.org/article/10.3389/fnins.2019.00485/fullTest

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