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المؤلفون: Hacer Durmus, Said Hashemolhosseini, Isin Baral Kulaksizoglu, Yesim Parman, Evren Önay Uçar, Serdar Ceylaner, Heinrich Sticht, Elif Mertoğlu
المصدر: Neurological Sciences. 42:3871-3878
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Psychosis, Pes cavus, Weakness, Ataxia, Neurology, Cerebellar Ataxia, Glycoside Hydrolases, Dermatology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Child, business.industry, Neurodegeneration, General Medicine, Postural tremor, medicine.disease, Psychiatry and Mental health, medicine.anatomical_structure, Psychotic Disorders, Mutation, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Sensory nerve
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68397fc2d003eeb228645cc4d972be67Test
https://doi.org/10.1007/s10072-021-05100-wTest -
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المصدر: Neurophysiologie Clinique. 48:261-267
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Needle electrode, Facial Muscles, Newly diagnosed, Generalized weakness, Concentric, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Myasthenia Gravis, otorhinolaryngologic diseases, medicine, Humans, Repetitive nerve stimulation, Muscle, Skeletal, Electrodes, Aged, Jitter, Neurologic Examination, Electromyography, business.industry, General Medicine, Middle Aged, medicine.disease, Electric Stimulation, Myasthenia gravis, 030104 developmental biology, Neurology, Needles, Anesthesia, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb77037b631f07801a79c8c2a72ebe06Test
https://doi.org/10.1016/j.neucli.2018.01.003Test -
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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: Hacer Durmus, Feza Deymeer, Piraye Oflazer-Serdaroglu, Yesim Parman
المصدر: Neuromuscular Disorders. 26:S146
مصطلحات موضوعية: Weakness, Pathology, medicine.medical_specialty, business.industry, Dermatomyositis, medicine.disease, Polymyositis, Pathophysiology, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Distribution (pharmacology), In patient, Neurology (clinical), medicine.symptom, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cc5ff6d15a25db647d348297a2577467Test
https://doi.org/10.1016/j.nmd.2016.06.218Test -
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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 -
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المؤلفون: Hans-Jürgen Christen, Carmelo Rodolico, Hacer Durmus, Angela Abicht, Beril Talim, Wolfgang Voss, Haluk Topaloglu, Kerstin Krabetz, Gudrun Schreiber, Helena Pihko, Marja Hietala, Ulrike Schara, Hanns Lochmüller, Juliane S. Müller
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 14(4)
مصطلحات موضوعية: Male, Weakness, medicine.medical_specialty, Pediatrics, Medizin, Glycine, Arginine, Neuromuscular junction, Choline O-Acetyltransferase, Internal medicine, medicine, CHRNE, Humans, In patient, Genetic Predisposition to Disease, Histidine, Receptors, Cholinergic, Genetic Testing, Longitudinal Studies, Enzyme Inhibitors, Muscle, Skeletal, Myasthenic Syndromes, Congenital, biology, business.industry, Genetic heterogeneity, Receptor Protein-Tyrosine Kinases, Electroencephalography, General Medicine, Congenital myasthenic syndrome, medicine.disease, Choline acetyltransferase, Magnetic Resonance Imaging, Electric Stimulation, Endocrinology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Cohort, Mutation, biology.protein, Female, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c55bcfabb902c70f7f1acfc146b41ef5Test
https://pubmed.ncbi.nlm.nih.gov/19900826Test -
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المؤلفون: Yesim Parman, Güher Saruhan-Direskeneli, M. Hajibehzad, Vuslat Yilmaz, F. Deyemeer, S. Yildiz-Celik, Piraye Oflazer-Serdaroglu, Hacer Durmus
المصدر: Neuromuscular Disorders. 24:842
مصطلحات موضوعية: medicine.medical_specialty, Weakness, biology, business.industry, Azathioprine, Disease, medicine.disease, Gastroenterology, Myasthenia gravis, Surgery, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, Epidemiology, medicine, biology.protein, Prednisolone, Outpatient clinic, Neurology (clinical), Antibody, medicine.symptom, business, Genetics (clinical), medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d913fb3c01ca453cc315227e4910fb82Test
https://doi.org/10.1016/j.nmd.2014.06.168Test -
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المؤلفون: Hacer Durmus, O. Ozcan, Z. Polat, Yesim Parman, O. Tarhan, Piraye Oflazer-Serdaroglu, Feza Deymeer
المصدر: Neuromuscular Disorders. 24:796
مصطلحات موضوعية: Weakness, medicine.medical_specialty, Cord, business.industry, medicine.disease, Dysphagia, Surgery, Atrophy, Neurology, Swallowing, Pediatrics, Perinatology and Child Health, otorhinolaryngologic diseases, medicine, Neurology (clinical), Vocal cord paralysis, medicine.symptom, Voice Handicap Index, business, Genetics (clinical), Paresis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dc2230dbe7d0392909a8c8682fdf24f8Test
https://doi.org/10.1016/j.nmd.2014.06.022Test