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

المؤلفون: Hülya Kayserili, Haluk Topaloglu, Ayaz Aghayev, Zehra Oya Uyguner, Sahin Avci, Hacer Durmus, Zuhal Yapici, Pinar Tekturk, Seher Başaran, Yesim Parman, Umut Altunoglu, Piraye Oflazer-Serdaroglu, B Sevinc Rustemoglu, Gulendam Bagirova, Feza Deymeer, Güven Toksoy, Birsen Karaman

المصدر: Neuromuscular Disorders. 29:601-613

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Turkey, Duchenne muscular dystrophy, Genetic counseling, In silico, Genetic Counseling, Chromosomal translocation, Biology, Carrier testing, medicine.disease_cause, Cohort Studies, Dystrophin, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Multiplex ligation-dependent probe amplification, Child, Genetics (clinical), Genetics, Mutation, High-Throughput Nucleotide Sequencing, Infant, Karyotype, Sequence Analysis, DNA, medicine.disease, Muscular Dystrophy, Duchenne, Phenotype, 030104 developmental biology, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::190147c364cb01ee776840e7569ad457Test
https://doi.org/10.1016/j.nmd.2019.03.012Test

المؤلفون: Mefkure Eraksoy, Onder Us, Sibel Ertan, Hacer Durmus, Filiz Koç, Nazan Saner, Şeyma Tekgül, Pinar Tekturk, Cemile Kocoglu, Gençer Genç, Robin Palvadeau, Feza Deymeer, Güneş Kızıltan, Ece Kartal, Hulya Apaydin, Sevda Erer Özbek, Cenk Akbostanci, Suna Lahut, Yesim Parman, Erdi Şahin, Dilcan Kotan, Hülya Tireli, Murat Gultekin, Zeynep Özözen Ayas, Ersin Tan, Sibel Özekmekçi, Irmak Şahbaz, Hamit Acer, Zeynep Tufekcioglu, Dilek Ince Gunal, Hasmet Hanagasi, İhsan Şükrü Şengün, Arman Çakar, Esen Saka Topcuoglu, Gülşah Şimşir, Gülden Akdal, Elif Bayraktar, Fulya Akçimen, Ayşe Bora Tokçaer, Aysegul Gunduz, Uluç Yiş, Gul Serdaroglu, Atay Vural, Ayse Altintas, Hüseyin A. Şahin, Özgür Ömür, Tuğçe Gül, Gül Demet Kaya Özçora, Müge Kovancılar Koç, Vildan Yayla, Aksel Siva, Semra Hiz, Meral Topçu, Piraye Oflazer, Başar Bilgiç, M. Osman Çorbalı, Semiha Kurt, Elçin Bora, Nesli E. Şen, Kadriye Agan, A. Nazli Basak, Halil Güllüoğlu, Ceren Tunca, Sefer Kumandaş, Muhsin Elmas, Özgür Öztop Çakmak, Bulent Elibol, Aysun Soysal, Zeynep E. Kaya Gulec, Caroline Pirkevi Çetinkaya, Dürdane Aksoy, Aslı Gündoğdu Eken

المساهمون: Ege Üniversitesi, Elmas, Muhsin

مصطلحات موضوعية: 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Turkey, Consanguinity, 03 medical and health sciences, symbols.namesake, Wholeexome sequencing, 0302 clinical medicine, medicine, Genetics, Humans, Spinocerebellar Ataxias, genetics, Exome sequencing, Spinocerebellar Degenerations, Sanger sequencing, biology, ataxia, medicine.disease, Optic Atrophy, 030104 developmental biology, Neurology, Muscle Spasticity, whole‐, Spinocerebellar ataxia, symbols, Frataxin, biology.protein, Neurology (clinical), medicine.symptom, Heterogeneity, heterogeneity, Trinucleotide repeat expansion, exome sequencing, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bd268a54a7c084aa9507fb520b75a7dTest
https://avesis.gazi.edu.tr/publication/details/dc537293-2ef2-4fdc-932d-c75876075839/oaiTest

المؤلفون: Mehmet Baris Baslo, Elif Kocasoy Orhan, Hacer Durmus, Feza Deymeer, Nermin Gorkem Sirin

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

المؤلفون: Yesim Parman, Vuslat Yilmaz, Güher Saruhan-Direskeneli, Hacer Durmus, Piraye Oflazer, Fikret Aysal, Erdem Tüzün, Ozlem Gungor-Tuncer, Feza Deymeer

المصدر: Journal of neuroimmunology. 349

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, medicine.medical_treatment, Immunology, CD38, CD19, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Myasthenia Gravis, medicine, Immunology and Allergy, Humans, B-cell activating factor, Child, B cell, Aged, B-Lymphocytes, biology, business.industry, Immunosuppression, Middle Aged, medicine.disease, Myasthenia gravis, Pathophysiology, 030104 developmental biology, medicine.anatomical_structure, Treatment Outcome, Neurology, biology.protein, Female, Neurology (clinical), Antibody, business, 030217 neurology & neurosurgery, Biomarkers, Immunosuppressive Agents

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5ce74a658149bb47de6d62c23141cf3Test
https://pubmed.ncbi.nlm.nih.gov/32977248Test

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

المؤلفون: Güher Saruhan-Direskeneli, Yesim Parman, Feza Deymeer, Hacer Durmus, Berker Özkan, Mehmet Hocaoglu, Sibel P. Yentür, Oner Dogan

المصدر: Journal of neuroimmunology. 323

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, animal structures, Adolescent, Immunology, Thymus Gland, Pathogenesis, 03 medical and health sciences, Young Adult, Co-stimulation, immune system diseases, Myasthenia Gravis, medicine, Immunology and Allergy, Humans, Child, Cells, Cultured, Acetylcholine receptor, Aged, CD86, Aged, 80 and over, B-Lymphocytes, biology, Chemistry, Interleukins, TLR9, hemic and immune systems, Middle Aged, medicine.disease, Myasthenia gravis, nervous system diseases, 030104 developmental biology, Neurology, biology.protein, Female, Neurology (clinical), Antibody, CD80, Immunosuppressive Agents

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8cb9b93506b40de9ae05355984900ecTest
https://pubmed.ncbi.nlm.nih.gov/30196831Test

المؤلفون: Duran Ustek, Zeliha Gormez, Yesim Parman, Özlem Gelişin, Piraye Serdaroglu-Oflazer, Oğuz Öztürk, Can Ebru Bekircan-Kurt, Urs Giger, Guldal Inal-Gultekin, Ersin Tan, Bahar Toptaş-Hekimoğlu, Sadrettin Pence, Bekir Ergüner, Mahmut Şamil Sağıroğlu, Sevim Erdem-Ozdamar, Hulya Yilmaz-Aydogan, Hacer Durmus, Hüseyin Demirci, Feza Deymeer

المساهمون: Nöroloji

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Turkey, Genomics, Biology, medicine.disease_cause, Article, DNA sequencing, Cohort Studies, Young Adult, 03 medical and health sciences, symbols.namesake, medicine, Humans, Missense mutation, Family, Genetic Testing, Geography, Medical, Child, Gene, Genetics (clinical), Aged, Genetics, Sanger sequencing, Mutation, High-Throughput Nucleotide Sequencing, Middle Aged, Pedigree, 030104 developmental biology, Neurology, Myophosphorylase, Pediatrics, Perinatology and Child Health, symbols, Glycogen Phosphorylase, Muscle Form, Glycogen Storage Disease Type V, Population study, Female, Neurology (clinical), Neurosciences & Neurology

وصف الملف: text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::835d60d12714bb5066e3546c6b28ed75Test
http://hdl.handle.net/11655/15706Test

المؤلفون: Jiri Pitha, Güher Saruhan-Direskeneli, F. Hanisch, Eleni Zamba-Papanicolaou, Talma Brenner, Beata Szyluk, Siegfried Labeit, Socrates J. Tzartos, C. Casasnovas Pons, John Tzartos, Dittmar Labeit, Julius Bogomolovas, Nils Erik Gilhus, Pilar Martinez-Martinez, Anna Kostera-Pruszczyk, Christos Stergiou, Ivana Basta, Konstantinos Lazaridis, Anthony Behin, Hacer Durmus, Francesca Andreetta, Angelina H. Maniaol, Sonia Berrih-Aknin, Kleopas A. Kleopa, A. Vaknin, Amelia Evoli, Piotr Szczudlik, Renato Mantegazza, M. De Baets, Tassos C. Kyriakides, Tarek Sharshar, Carlo Antozzi, M. Jakubíkova, Vasiliki Zouvelou, Chantal M. E. Tallaksen, Stojan Peric, Feza Deymeer, Dragana Lavrnic, Mario Losen

المساهمون: RS: MHeNs - R3 - Neuroscience, Psychiatrie & Neuropsychologie

المصدر: Journal of Neuroimmunology
Journal of Neuroimmunology, 292, 108-115. Elsevier

مصطلحات موضوعية: 0301 basic medicine, Seronegative, Male, Radioimmunoprecipitation Assay, animal structures, Titin, International Cooperation, Immunology, Enzyme-Linked Immunosorbent Assay, Serology, 03 medical and health sciences, 0302 clinical medicine, Antigen, Receptors, Diagnosis, Myasthenia Gravis, Autoantibodies, Myasthenia gravis, Radioimmunoprecipitation assay, Connectin, Female, Humans, LDL-Receptor Related Proteins, Receptor Protein-Tyrosine Kinases, Receptors, Cholinergic, Immunology and Allergy, Neurology, Neurology (clinical), Medicine, Myopathy, Cholinergic, Autoimmune disease, biology, business.industry, Autoantibody, musculoskeletal system, medicine.disease, 3. Good health, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, biology.protein, Antibody, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3246f6c7af141f9bf43c1530ed6c7536Test
https://pubmed.ncbi.nlm.nih.gov/26943968Test