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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 -
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المؤلفون: Hacer Durmus, Yesim Parman, Volker Straub, Ana Töpf, Magdalena Mroczek
المصدر: Genes
Volume 11
Issue 7
Genes, Vol 11, Iss 716, p 716 (2020)مصطلحات موضوعية: Adult, 0301 basic medicine, Weakness, Pathology, medicine.medical_specialty, Adolescent, lcsh:QH426-470, plectin, Electromyography, Article, PLEC, 03 medical and health sciences, 0302 clinical medicine, Ptosis, Genetics, medicine, Humans, Repetitive nerve stimulation, Muscular dystrophy, Child, Genetics (clinical), Myasthenic Syndromes, Congenital, medicine.diagnostic_test, business.industry, limb-girdle muscular dystrophy, Homozygote, Facial weakness, Exons, medicine.disease, myasthenia, lcsh:Genetics, Phenotype, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, Female, medicine.symptom, business, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy, Muscle cramp
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56b4f36d8f03d6adf456c1ba436f19ffTest
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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 -
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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 -
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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 -
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المؤلفون: Duran Ustek, Zeliha Gormez, Yesim Parman, Özlem Gelişin, Piraye Serdaroglu-Oflazer, Oğuz Öztürk, Can Ebru Bekircan-Kurt, Urs Giger, Guldal Inal-Gultekin, Ersin Tan, Bahar Toptaş-Hekimoğlu, Sadrettin Pence, Bekir Ergüner, Mahmut Şamil Sağıroğlu, Sevim Erdem-Ozdamar, Hulya Yilmaz-Aydogan, Hacer Durmus, Hüseyin Demirci, Feza Deymeer
المساهمون: Nöroloji
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Turkey, Genomics, Biology, medicine.disease_cause, Article, DNA sequencing, Cohort Studies, Young Adult, 03 medical and health sciences, symbols.namesake, medicine, Humans, Missense mutation, Family, Genetic Testing, Geography, Medical, Child, Gene, Genetics (clinical), Aged, Genetics, Sanger sequencing, Mutation, High-Throughput Nucleotide Sequencing, Middle Aged, Pedigree, 030104 developmental biology, Neurology, Myophosphorylase, Pediatrics, Perinatology and Child Health, symbols, Glycogen Phosphorylase, Muscle Form, Glycogen Storage Disease Type V, Population study, Female, Neurology (clinical), Neurosciences & Neurology
وصف الملف: text/plain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::835d60d12714bb5066e3546c6b28ed75Test
http://hdl.handle.net/11655/15706Test -
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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