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1
المؤلفون: Ursula Schlötzer-Schrehardt, Said Hashemolhosseini, Hacer Durmus, Piraye Serdaroglu-Oflazer, Aslıhan Tolun, Frédéric Chevessier, Rolf Schröder, Georg Hemmrich-Stanisak, Nane Eiber, Feza Deymeer, Andre Franke, Yesim Parman, Sebahattin Cirak, Christoph S. Clemen, Özgecan Ayhan
المصدر: Neurology. 87(8)
مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Adolescent, Generalized muscle weakness, Neuromuscular Junction, Genes, Recessive, Motor Endplate, Muscular Dystrophies, Desmin, 03 medical and health sciences, Consanguinity, Mice, 0302 clinical medicine, medicine, Animals, Humans, Albuterol, Repetitive nerve stimulation, Myopathy, Child, Adrenergic beta-2 Receptor Agonists, Acetylcholine receptor, business.industry, Facial weakness, Congenital myasthenic syndrome, medicine.disease, Pedigree, Disease Models, Animal, 030104 developmental biology, Female, Neurology (clinical), medicine.symptom, business, Cardiomyopathies, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9278913e5e84c6704731f7c0fa209b65Test
https://pubmed.ncbi.nlm.nih.gov/27440146Test -
2
المؤلفون: Feza Deymeer, M. Gokyigiti, Yesim Parman, Kate Bushby, Piraye Serdaroglu-Oflazer, Veronika Karcagi, Seyhun Solakoglu, Hanns Lochmüller, Esen Kiyan, Volker Straub, Hacer Durmus, C. Ertekin, Steve Laval, Ibrahim Ercan
المصدر: Neurology. 76(3)
مصطلحات موضوعية: Adult, Male, Weakness, Pathology, medicine.medical_specialty, Time Factors, Adolescent, Turkey, Facial Muscles, Genes, Recessive, Vocal Cords, Severity of Illness Index, Atrophy, Ptosis, Muscular Dystrophy, Oculopharyngeal, medicine, Blepharoptosis, Humans, Genetic Predisposition to Disease, Muscular dystrophy, Age of Onset, Myopathy, Child, Aged, Genes, Dominant, Muscle Weakness, business.industry, Electromyography, Muscle weakness, Middle Aged, medicine.disease, Deglutition, Phenotype, Spirometry, Disease Progression, Female, Neurology (clinical), medicine.symptom, Age of onset, business, Oropharyngeal dysphagia, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2260b1d7313d1fdc3871c0fca7c4f12Test
https://pubmed.ncbi.nlm.nih.gov/21242490Test