-
1
المؤلفون: Yesim Parman, Duygu Gezen-Ak, Arman Çakar, Hacer Durmus, Hasan Demirci, Erdinç Dursun, Merve Alaylıoğlu
المصدر: Acta Neurologica Scandinavica. 144:640-646
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Amyloid beta, Cognition, Cerebrospinal fluid, medicine, Humans, Prealbumin, Neuropsychological assessment, Aged, Amyloid Neuropathies, Familial, Amyloid beta-Peptides, biology, medicine.diagnostic_test, business.industry, Amyloidosis, Neuropsychology, General Medicine, Middle Aged, medicine.disease, Transthyretin, Neuropeptide processing, Neurology, biology.protein, Neurology (clinical), Verbal memory, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d9724c649b8ea1731d1d03342f2322dTest
https://doi.org/10.1111/ane.13507Test -
2
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 -
3
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 -
4
المؤلفون: Hacer Durmus, Dilcan Kotan, Yesim Parman, Feza Deymeer, Murat Mert Atmaca, Piraye Oflazer, Arman Çakar
المصدر: Noro Psikiyatr Ars
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, biology, business.industry, General Neuroscience, Amyloidosis, Lumbar spinal stenosis, Case Report, medicine.disease, Psychiatry and Mental health, Transthyretin, medicine, biology.protein, Radiology, Presentation (obstetrics), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa39cf4a3e8d540d0391ea11a4cc4018Test
https://europepmc.org/articles/PMC8895807Test/ -
5
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 -
6
المؤلفون: Elif Ozkok, Nikolaos Trakas, Erdem Tüzün, Berrak Yetimler, George Lagoumintzis, Canan Ulusoy, Hatice Tasli, Socrates J. Tzartos, Hacer Durmus
المصدر: Clinical Neuropathology. 34:359-363
مصطلحات موضوعية: medicine.medical_specialty, chemical and pharmacologic phenomena, Pathology and Forensic Medicine, Electron Transport Complex IV, Muscular Diseases, Immunity, Internal medicine, Myasthenia Gravis, medicine, Animals, Citrate synthase, Cytochrome c oxidase, Autoantibodies, Acetylcholine receptor, biology, Succinate dehydrogenase, Phosphotransferases, General Medicine, biochemical phenomena, metabolism, and nutrition, medicine.disease, Muscle atrophy, Myasthenia gravis, Mitochondria, Mice, Inbred C57BL, Succinate Dehydrogenase, Disease Models, Animal, Electrophysiology, Endocrinology, Neurology, biology.protein, bacteria, Neurology (clinical), medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e6351c0d1ce14191fb20ef01378d29aTest
https://doi.org/10.5414/np300875Test -
7
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 -
8
المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck
المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents
المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscleمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION
وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test -
9
المؤلفون: John Tzartos, Anastasios Tsonis, Kleopas A. Kleopa, Chantal M. E. Tallaksen, Dragana Lavrnic, Ivana Basta, Anthony Behin, Socrates J. Tzartos, Feza Deymeer, Stojan Peric, Mario Losen, C. Casasnovas Pons, Angelina H. Maniaol, Carlo Antozzi, Sonia Berrih-Aknin, Amelia Evoli, M. De Baets, F. Hanisch, E. Matsigkou, Renato Mantegazza, Tassos C. Kyriakides, Francesca Andreetta, Anna Kostera-Pruszczyk, Piotr Szczudlik, Güher Saruhan-Direskeneli, Konstantinos Lazaridis, Tarek Sharshar, Paraskevi Zisimopoulou, M. Jakubíkova, A. Vaknin, Hacer Durmus, Vasiliki Zouvelou, Eleni Zamba-Papanicolaou, Talma Brenner, Pilar Martinez-Martinez, Beata Szyluk, Jiri Pitha
المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs - R3 - Neuroscience
المصدر: Journal of Neuroimmunology, 284, 10-17. Elsevier
Journal of Neuroimmunologyمصطلحات موضوعية: Adult, Male, International Cooperation, Immunology, Radioimmunoassay, Thymus Gland, Diagnosis, medicine, Immunology and Allergy, Humans, Receptors, Cholinergic, Cell based assay, Myasthenia gravis, LDL-Receptor Related Proteins, Acetylcholine receptor, Aged, MuSK, Autoantibodies, Neuromyelitis optica, biology, business.industry, Multiple sclerosis, Neuromyelitis Optica, Autoantibody, Receptor Protein-Tyrosine Kinases, Hyperplasia, Middle Aged, medicine.disease, Flow Cytometry, 3. Good health, Settore MED/26 - NEUROLOGIA, Neurology, biology.protein, Cell-based assay, Female, Neurology (clinical), Thymus Hyperplasia, Antibody, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c566b9ba7e0928a801e300de6d24f7fTest
https://doi.org/10.1016/j.jneuroim.2015.04.015Test -
10
المؤلفون: A. Vaknin, Dragana Lavrnic, Eleni Zamba-Papanicolaou, Chantal M. E. Tallaksen, M. DeBaets, M. Frenkian Cuvelier, Stojan Peric, Talma Brenner, John Tzartos, Vasiliki Zouvelou, Beata Szyluk, Carlo Antozzi, Hacer Durmus, Piotr Szczudlik, Konstantinos Lazaridis, Francesca Andreetta, Paraskevi Zisimopoulou, T. Stojkovic, Socrates J. Tzartos, Angelina H. Maniaol, Sonia Berrih-Aknin, Renato Mantegazza, Anna Kostera-Pruszczyk, Feza Deymeer, Mario Losen, Pilar Martinez-Martinez, Panagiota Evangelakou, Kleopas A. Kleopa, Tassos C. Kyriakides, Amelia Evoli, Güher Saruhan-Direskeneli, Ivana Basta
المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs - R3 - Neuroscience
المصدر: Journal of Autoimmunity; Vol 52
Journal of Autoimmunity, 52, 139-145. Elsevier Science
Journal of Autoimmunityمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Thymoma, Adolescent, International Cooperation, Immunology, LRP4, Thymus Gland, Autoantibodies Cell based assay, Young Adult, Sex Factors, Epidemiology, Diagnosis, Humans, Immunology and Allergy, Medicine, Receptors, Cholinergic, Serologic Tests, Age of Onset, Child, Myasthenia gravis, LDL-Receptor Related Proteins, Aged, Autoantibodies, Acetylcholine receptor, Hyperplasia, biology, business.industry, Infant, Newborn, Autoantibody, Infant, Receptor Protein-Tyrosine Kinases, Middle Aged, medicine.disease, 3. Good health, HEK293 Cells, Child, Preschool, Immunoglobulin G, Disease Progression, biology.protein, Female, Therapy, Antibody, business, Lipoprotein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dc6fee35d6be5e7c6c4359d7e4c028eTest