المؤلفون: Mark Busby, Rita Barresi, L. Phillips, Tiziana Mongini, Hacer Durmus, Jonathan Baets, Fiona Norwood, Judith N Hudson, James Miller, Peter De Jonghe, Shahriar Nafissi, Katherine Johnson, Ana Töpf, Monkol Lek, Stojan Peric, Daniel G. MacArthur, Marta Bertoli, Willem De Ridder, Shirin Jamal-Omidi, Vidosava Rakocevic Stojanovic, Volker Straub, Tine Deconinck, Anna Łusakowska

المصدر: Journal of neurology, neurosurgery and psychiatry

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Myopathy, Ubiquitin-Protein Ligases, Nonsense mutation, Population, Ethnic Groups, Muscle disorder, Muscular Dystrophies, Frameshift mutation, Tripartite Motif Proteins, 03 medical and health sciences, Limb-Girdle, 0302 clinical medicine, Muscular Diseases, Missense mutation, Medicine, Humans, Muscular dystrophy, education, Exome sequencing, Muscle disease, education.field_of_study, Neuromuscular, Female, Magnetic Resonance Imaging, Middle Aged, Muscle, Skeletal, Muscular Dystrophies, Limb-Girdle, Mutation, Transcription Factors, business.industry, Skeletal, medicine.disease, 3. Good health, Psychiatry and Mental health, Muscle, Surgery, Neurology (clinical), Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28cfdfc1be3263ac26ee02f4f736fa0bTest
http://hdl.handle.net/2318/1786348Test

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

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

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

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