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 Kürtüncü, Erdem Tüzün, Münevver Pehlivan, Mefkure Eraksoy, Zuhal Yapici, Hacer Durmus, Gulsen Akman-Demir

المصدر: Acta Neurologica Belgica. 113:421-426

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Multiple Sclerosis, Neurology, Adolescent, Population, Young Adult, Epilepsy, Seizures, Prevalence, medicine, Humans, Outpatient clinic, Age of Onset, Child, education, Aged, education.field_of_study, Expanded Disability Status Scale, business.industry, Multiple sclerosis, General Medicine, Middle Aged, medicine.disease, Anesthesia, Cohort, Female, Neurology (clinical), Epileptic seizure, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::164181421ad501e7149edd227d2053b6Test
https://doi.org/10.1007/s13760-013-0210-xTest

المؤلفون: Amr H. Sawalha, Adam Adler, Yesim Gulsen-Parman, Mahdi Alahgholi-Hajibehzad, Alexander Marx, Oner Dogan, Feza Deymeer, Fikret Aysal, Piraye Oflazer, Güher Saruhan-Direskeneli, Vuslat Yilmaz, Travis K. Hughes, Mehmet Ali Akalin, Sibel P. Yentür, Hacer Durmus

مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Turkey, Immunology, Population, Genome-wide association study, Human leukocyte antigen, HLA-C Antigens, Polymorphism, Single Nucleotide, Linkage Disequilibrium, 03 medical and health sciences, Genetic Heterogeneity, 0302 clinical medicine, Gene Frequency, Myasthenia Gravis, Genetic predisposition, medicine, Immunology and Allergy, HLA-DQ beta-Chains, Humans, Genetic Predisposition to Disease, Receptors, Cholinergic, Allele, Age of Onset, education, Alleles, Genetics, education.field_of_study, biology, Genetic heterogeneity, Genome, Human, Receptor Protein-Tyrosine Kinases, medicine.disease, Myasthenia gravis, 030104 developmental biology, HLA-B Antigens, biology.protein, Female, Antibody, 030217 neurology & neurosurgery, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab41880803428b2e79e732068f87a876Test
https://aperta.ulakbim.gov.tr/record/56575Test

المؤلفون: Aslihan Ozoguz, Piraye Oflazer, Aslı Gündoğdu Eken, Feza Deymeer, Yesim Parman, Hacer Durmus, Peter C. Sapp, A. Nazli Basak, Halil Güllüoğlu, Filiz Koç, Murat Gunel, Fikret Aysal, Ozlem Keskin, Mehmet Ali Akalin, Başar Bilgiç, Suna Lahut, Tahsin Akgün, Dilcan Kotan, Özgün Uyan, Mustafa Ertas, Nilgün Döşoğlu, John Landers, Pinar Kavak, Mehmet Zarifoglu, Nesli-Ece Sen, Ceren Saygı, Kaya Bilguvar, Hakan Gurvit, Özgür Ömür, Robert H. Brown, Hasmet Hanagasi, Ersin Tan, Güneş Birdal, Zeynep Sena Agim, Hilmi Ozcelik, Pamela Keagle, Ceren Iskender, Ece Kartal

المساهمون: Çukurova Üniversitesi, Ozoguz, A, Uyan, O, Birdal, G, Iskender, C, Kartal, E, Lahut, S, Omur, O, Agim, ZS, Eken, AG, Sen, NE, Kavak, P, Saygi, C, Sapp, PC, Keagle, P, Parman, Y, Tan, E, Koc, F, Deymeer, F, Oflazer, P, Hanagasi, H, Gurvit, H, Bilgic, B, Durmus, H, Ertas, M, Kotan, D, Akalin, MA, Gulluoglu, H, Zarifoglu, M, Aysal, F, Dosolu, N, Bilguvar, K, Gunel, M, Keskin, O, Akgun, T, Ozcelik, H, Landers, JE, Brown, RH, Basak, AN, Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü, Kotan Dündar, Dilcan

مصطلحات موضوعية: Male, Aging, Turkey, TDP-43, Protein Deglycase DJ-1, Autophagy-Related Proteins, Cell Cycle Proteins, Gene mutation, medicine.disease_cause, Superoxide Dismutase-1, C9orf72, Transcription Factor TFIIIA, Sequestosome-1 Protein, Guanine Nucleotide Exchange Factors, Exome, Amyotrophic lateral sclerosis, Exome sequencing, Oncogene Proteins, Genetics, Mutation, education.field_of_study, General Neuroscience, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, SOD1, Middle Aged, DNA-Binding Proteins, Female, Adult, Adolescent, Population, TRPM Cation Channels, Nerve Tissue Proteins, Protein Serine-Threonine Kinases, Biology, TARDBP, Article, Young Adult, medicine, Humans, education, Ubiquitins, Genetic Association Studies, Adaptor Proteins, Signal Transducing, Aged, FUS, C9orf72 Protein, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Membrane Transport Proteins, Proteins, medicine.disease, Cytoskeletal Proteins, RNA-Binding Protein FUS, Neurosciences & Neurology, Neurology (clinical), Geriatrics and Gerontology, ALS, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73fbf09c47c098ca022a6efb77fbe36dTest
https://hdl.handle.net/20.500.12605/20890Test

المؤلفون: Hacer Durmus, Hasmet Hanagasi, Mehmet Ata Gökalp

المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 36(3)

مصطلحات موضوعية: Male, Rural Population, Pediatrics, medicine.medical_specialty, Movement disorders, Parkinson's disease, Turkey, Population, Prevalence, Large population, Dermatology, Disease, medicine, Humans, education, Aged, Aged, 80 and over, education.field_of_study, business.industry, Parkinson Disease, General Medicine, Middle Aged, medicine.disease, Population based study, Psychiatry and Mental health, Female, Neurology (clinical), Population screening, medicine.symptom, business, Demography

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb012a3e619fffb4094259581cf10c89Test
https://pubmed.ncbi.nlm.nih.gov/25351343Test