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المؤلفون: Judith Cossins, Kathryn Selby, Eduardo de Paula Estephan, Pedro M. Rodríguez Cruz, Pinki Munot, Stephanie Robb, Jan Senderek, Francina Munell, David Beeson, Sandeep Jayawant, Michio Hirano, Sithara Ramdas, Aisling Carr, Alfons Macaya, Marina Dusl, Edmar Zanoteli, Christian de Goede, Siddharth Banka, Jacqueline Palace, Harry Fraser, Mohammad Yahya Vahidi Mehrjardi, Ana Töpf, Reza Maroofin, Abigail Sage, Hans Lochmüller, Wei Wei Liu, Umbertina Conti Reed, Adnan Y. Manzur, Ravi Knight, Monika Hofer, M. Gratacos, Gabriel Chow
المصدر: Brain
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Rodríguez Cruz, P M, Cossins, J, de Paula Estephan, E, Munell, F, Selby, K, Hirano, M, Maroofin, R, Mehrjardi, M Y V, Chow, G, Carr, A, Manzur, A, Robb, S, Munot, P, Wei Liu, W, Banka, S, Fraser, H, De Goede, C, Zanoteli, E, Conti Reed, U, Sage, A, Gratacos, M, Macaya, A, Dusl, M, Senderek, J, Töpf, A, Hofer, M, Knight, R, Ramdas, S, Jayawant, S, Lochmüller, H, Palace, J & Beeson, D 2019, ' The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations ', Brain : a journal of neurology, vol. 142, no. 6, pp. 1547-1560 . https://doi.org/10.1093/brain/awz107مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Weakness, COL13A1, Adolescent, 3,4-diaminopyridine, Salbutamol, Neuromuscular transmission, Neuromuscular Junction, Muscle Proteins, Collagen Type XIII, Synaptic Transmission, Neuromuscular junction, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, medicine, congenital myasthenic syndromes, Humans, Respiratory function, Child, Muscle, Skeletal, Acetylcholine receptor, Myasthenic Syndromes, Congenital, business.industry, Homozygote, Muscle weakness, Original Articles, Congenital myasthenic syndrome, medicine.disease, Congenital myasthenic syndromes, Hypotonia, 3. Good health, synaptic basal lamina, Synaptic basal lamina, 030104 developmental biology, medicine.anatomical_structure, salbutamol, Mutation, Synapses, Cardiology, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1410d8ce801488eb1b457d121ece19cb
http://europepmc.org/articles/PMC6752227