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المؤلفون: Eleina M. England, Samantha J. Bryen, Sandra T. Cooper, Hacer Durmus, Sunita Bijarnia-Mahay, Volker Straub, Jennifer Duff, Roula Ghaoui, Magdalena Mroczek, Ana Töpf, Daniel G. MacArthur
المصدر: Neuromuscular Disorders. 30:310-314
مصطلحات موضوعية: 0301 basic medicine, Inosine monophosphate, Pathology, medicine.medical_specialty, Weakness, Proximal muscle weakness, business.industry, Purine nucleotide cycle, Compound heterozygosity, Muscle atrophy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), medicine.symptom, business, Myopathy, 030217 neurology & neurosurgery, Genetics (clinical), Muscle contracture
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6027f6673c4b90130d13121d20aae4deTest
https://doi.org/10.1016/j.nmd.2020.02.006Test -
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المؤلفون: Hacer Durmus, Yesim Parman, Volker Straub, Ana Töpf, Magdalena Mroczek
المصدر: Genes
Volume 11
Issue 7
Genes, Vol 11, Iss 716, p 716 (2020)مصطلحات موضوعية: Adult, 0301 basic medicine, Weakness, Pathology, medicine.medical_specialty, Adolescent, lcsh:QH426-470, plectin, Electromyography, Article, PLEC, 03 medical and health sciences, 0302 clinical medicine, Ptosis, Genetics, medicine, Humans, Repetitive nerve stimulation, Muscular dystrophy, Child, Genetics (clinical), Myasthenic Syndromes, Congenital, medicine.diagnostic_test, business.industry, limb-girdle muscular dystrophy, Homozygote, Facial weakness, Exons, medicine.disease, myasthenia, lcsh:Genetics, Phenotype, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, Female, medicine.symptom, business, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy, Muscle cramp
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56b4f36d8f03d6adf456c1ba436f19ffTest
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المؤلفون: Bülent Kara, Piraye Serdaroglu-Oflazer, Xin Ming Shen, Yesim Parman-Gulsen, Joan M. Brengman, Coşkun Özdemir, Andrew G. Engel, Feza Deymeer, Hacer Durmus
المصدر: Neuromuscular Disorders. 28:315-322
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Pathology, Adolescent, Neuromuscular Junction, Muscle Proteins, Disease, Gastroenterology, Article, Neuromuscular junction, Young Adult, 03 medical and health sciences, 0302 clinical medicine, health services administration, Internal medicine, COLQ, medicine, Humans, CHRNE, Receptors, Cholinergic, health care economics and organizations, Genetics (clinical), Retrospective Studies, Acetylcholine receptor, Myasthenic Syndromes, Congenital, biology, business.industry, Muscle weakness, Prognosis, Choline acetyltransferase, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Neurology, Pyridostigmine, Mutation, Pediatrics, Perinatology and Child Health, Acetylcholinesterase, biology.protein, Female, Collagen, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c8a17c575429d766f1cd587ba6a605aTest
https://doi.org/10.1016/j.nmd.2017.11.013Test -
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المؤلفون: Murat Giriş, Erdem Tüzün, Hacer Durmus, Yesim Parman, Hatice Tasli, Berrak Yetimler
المصدر: In vivo (Athens, Greece). 31(4)
مصطلحات موضوعية: 0301 basic medicine, Muscle tissue, Adult, Male, Cancer Research, medicine.medical_specialty, Biopsy, Inflammation, Enzyme-Linked Immunosorbent Assay, General Biochemistry, Genetics and Molecular Biology, Dermatomyositis, Proinflammatory cytokine, 03 medical and health sciences, Interferon-gamma, Internal medicine, Deltoid muscle, medicine, Humans, Myopathy, Aged, Pharmacology, business.industry, Muscles, Interleukin-17, Muscle weakness, Deltoid Muscle, Middle Aged, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Gene Expression Regulation, Female, Interleukin 17, Interleukin-4, medicine.symptom, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9a3eadf303631f98749d455ad54754fTest
https://pubmed.ncbi.nlm.nih.gov/28652434Test -
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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