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1
المؤلفون: Hacer Durmus, Said Hashemolhosseini, Isin Baral Kulaksizoglu, Yesim Parman, Evren Önay Uçar, Serdar Ceylaner, Heinrich Sticht, Elif Mertoğlu
المصدر: Neurological Sciences. 42:3871-3878
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Psychosis, Pes cavus, Weakness, Ataxia, Neurology, Cerebellar Ataxia, Glycoside Hydrolases, Dermatology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Child, business.industry, Neurodegeneration, General Medicine, Postural tremor, medicine.disease, Psychiatry and Mental health, medicine.anatomical_structure, Psychotic Disorders, Mutation, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Sensory nerve
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68397fc2d003eeb228645cc4d972be67Test
https://doi.org/10.1007/s10072-021-05100-wTest -
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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: 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: Murat Giriş, Erdem Tüzün, Hacer Durmus, Yesim Parman, Hatice Tasli, Berrak Yetimler
المصدر: In vivo (Athens, Greece). 31(4)
مصطلحات موضوعية: 0301 basic medicine, Muscle tissue, Adult, Male, Cancer Research, medicine.medical_specialty, Biopsy, Inflammation, Enzyme-Linked Immunosorbent Assay, General Biochemistry, Genetics and Molecular Biology, Dermatomyositis, Proinflammatory cytokine, 03 medical and health sciences, Interferon-gamma, Internal medicine, Deltoid muscle, medicine, Humans, Myopathy, Aged, Pharmacology, business.industry, Muscles, Interleukin-17, Muscle weakness, Deltoid Muscle, Middle Aged, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Gene Expression Regulation, Female, Interleukin 17, Interleukin-4, medicine.symptom, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9a3eadf303631f98749d455ad54754fTest
https://pubmed.ncbi.nlm.nih.gov/28652434Test -
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المؤلفون: Feza Deymeer, Yesim Gulsen-Parman, Hacer Durmus, Mahdi Alahgholi-Hajibehzad, Alexander Marx, Fikret Aysal, Güher Saruhan-Direskeneli, Piraye Oflazer
مصطلحات موضوعية: Adult, CD4-Positive T-Lymphocytes, Male, medicine.medical_specialty, Adolescent, Immunology, Cell, chemical and pharmacologic phenomena, Biology, law.invention, Young Adult, Calcitriol, law, Internal medicine, Myasthenia Gravis, STAT5 Transcription Factor, medicine, Humans, Immunology and Allergy, IL-2 receptor, Cells, Cultured, STAT5, Aged, Aged, 80 and over, Interleukin-2 Receptor alpha Subunit, FOXP3, hemic and immune systems, Middle Aged, medicine.disease, Coculture Techniques, Myasthenia gravis, Phenotype, medicine.anatomical_structure, Endocrinology, Neurology, biology.protein, Suppressor, Phosphorylation, Female, Neurology (clinical), Intracellular, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff0d840de348ef426d148096d38e4bb2Test
https://aperta.ulakbim.gov.tr/record/79097Test -
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المؤلفون: Hans-Jürgen Christen, Carmelo Rodolico, Hacer Durmus, Angela Abicht, Beril Talim, Wolfgang Voss, Haluk Topaloglu, Kerstin Krabetz, Gudrun Schreiber, Helena Pihko, Marja Hietala, Ulrike Schara, Hanns Lochmüller, Juliane S. Müller
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 14(4)
مصطلحات موضوعية: Male, Weakness, medicine.medical_specialty, Pediatrics, Medizin, Glycine, Arginine, Neuromuscular junction, Choline O-Acetyltransferase, Internal medicine, medicine, CHRNE, Humans, In patient, Genetic Predisposition to Disease, Histidine, Receptors, Cholinergic, Genetic Testing, Longitudinal Studies, Enzyme Inhibitors, Muscle, Skeletal, Myasthenic Syndromes, Congenital, biology, business.industry, Genetic heterogeneity, Receptor Protein-Tyrosine Kinases, Electroencephalography, General Medicine, Congenital myasthenic syndrome, medicine.disease, Choline acetyltransferase, Magnetic Resonance Imaging, Electric Stimulation, Endocrinology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Cohort, Mutation, biology.protein, Female, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c55bcfabb902c70f7f1acfc146b41ef5Test
https://pubmed.ncbi.nlm.nih.gov/19900826Test