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: 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: 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