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: 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

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