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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: Hasan Demirci, Hasmet Hanagasi, Atilla Uslu, Güven Toksoy, Hacer Durmus, Yesim Parman
المصدر: MusclenerveREFERENCES. 62(6)
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Adult, Heterozygote, Physiology, Duchenne muscular dystrophy, Mothers, 030105 genetics & heredity, Neuropsychological Tests, 03 medical and health sciences, Cellular and Molecular Neuroscience, Executive Function, 0302 clinical medicine, Cognition, Spatial Processing, Physiology (medical), Medicine, Humans, Attention, Cognitive Dysfunction, Cognitive impairment, Immediate verbal memory, medicine.diagnostic_test, business.industry, Working memory, Neuropsychology, Neuropsychological test, Middle Aged, medicine.disease, Executive functions, Muscular Dystrophy, Duchenne, Memory, Short-Term, Case-Control Studies, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b518b85efe296824774b6f659729495eTest
https://pubmed.ncbi.nlm.nih.gov/32893363Test -
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المؤلفون: Bülent Kara, Piraye Serdaroglu-Oflazer, Xin Ming Shen, Yesim Parman-Gulsen, Joan M. Brengman, Coşkun Özdemir, Andrew G. Engel, Feza Deymeer, Hacer Durmus
المصدر: Neuromuscular Disorders. 28:315-322
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Pathology, Adolescent, Neuromuscular Junction, Muscle Proteins, Disease, Gastroenterology, Article, Neuromuscular junction, Young Adult, 03 medical and health sciences, 0302 clinical medicine, health services administration, Internal medicine, COLQ, medicine, Humans, CHRNE, Receptors, Cholinergic, health care economics and organizations, Genetics (clinical), Retrospective Studies, Acetylcholine receptor, Myasthenic Syndromes, Congenital, biology, business.industry, Muscle weakness, Prognosis, Choline acetyltransferase, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Neurology, Pyridostigmine, Mutation, Pediatrics, Perinatology and Child Health, Acetylcholinesterase, biology.protein, Female, Collagen, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c8a17c575429d766f1cd587ba6a605aTest
https://doi.org/10.1016/j.nmd.2017.11.013Test -
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المؤلفون: Yesim Gulsen-Parman, Feza Deymeer, Hacer Durmus, Ravza Yilmaz, Memduh Dursun, Piraye Oflazer-Serdaroglu, Marina Cuttini
المصدر: Muscle & Nerve. 55:651-656
مصطلحات موضوعية: medicine.diagnostic_test, Physiology, business.industry, Deltoid curve, Disease progression, Magnetic resonance imaging, Spinal muscular atrophy, Anatomy, musculoskeletal system, medicine.disease, Biceps, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), Spinal Muscular Atrophy Type 3, medicine, In patient, Neurology (clinical), Iliopsoas, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5cce6b433c010b59ed06e49c19ea5b20Test
https://doi.org/10.1002/mus.25385Test -
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المؤلفون: Yesim Parman, Vuslat Yilmaz, Feza Deymeer, Guher Saruhan Direskeneli, Hacer Durmus, Piraye Oflazer, Senay Yildiz Celik
المصدر: Acta neurologica Belgica. 120(1)
مصطلحات موضوعية: Male, medicine.medical_specialty, Neurology, Azathioprine, Late onset, Disease, Outcome (game theory), Severity of Illness Index, Serology, 03 medical and health sciences, 0302 clinical medicine, Prednisone, Internal medicine, Myasthenia Gravis, Outcome Assessment, Health Care, medicine, Humans, Connectin, Receptors, Cholinergic, 030212 general & internal medicine, Age of Onset, Aged, Autoantibodies, business.industry, Remission Induction, Receptor Protein-Tyrosine Kinases, General Medicine, Middle Aged, medicine.disease, Myasthenia gravis, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1267f516054ed11f00fe58ec6c3a3f44Test
https://pubmed.ncbi.nlm.nih.gov/31811563Test -
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المؤلفون: Yesim Parman, Arman Çakar, Gulshan Yunisova, Ayse Candayan, A. Nazli Basak, Esra Battaloglu, Hacer Durmus
المصدر: Neurogenetics. 21(1)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Adolescent, Turkey, Mutation, Missense, Biology, Compound heterozygosity, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Iron-Binding Proteins, Genetics, medicine, Missense mutation, Humans, Family, Gene, Genetics (clinical), Homozygote, Human genetics, nervous system diseases, Pedigree, 030104 developmental biology, Phenotype, Mutation (genetic algorithm), Frataxin, biology.protein, Female, medicine.symptom, Trinucleotide repeat expansion, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::030ae525e1f6e06ec13f92250de1d7e1Test
https://pubmed.ncbi.nlm.nih.gov/31673878Test -
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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 -
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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: Yesim Parman, Hacer Durmus, Elif Kocasoy Orhan, Feza Deymeer, Ali Emre Oge, Nermin Gorkem Sirin, Piraye Oflazer, Mehmet Baris Baslo
المصدر: Journal of Neurological Sciences (Turkish).
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Concentric, medicine.disease, Myasthenia gravis, 03 medical and health sciences, 0302 clinical medicine, Neurology, Retrospective analysis, Medicine, 030212 general & internal medicine, Neurology (clinical), Radiology, business, 030217 neurology & neurosurgery, Jitter
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e9f187798a40aaae35768bb9f4b5c50fTest
https://doi.org/10.24165/jns.10168.17Test -
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المؤلفون: Yesim Parman, Zuleyha Bingol, Hacer Durmus, Aylin Pihtili, Esen Kiyan
المساهمون: PIHTILI, AYLIN
مصطلحات موضوعية: Male, Spirometry, Vital capacity, Polysomnography, 030204 cardiovascular system & hematology, Hypercapnia, Polyneuropathies, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, otorhinolaryngologic diseases, Internal Medicine, medicine, Humans, Vocal cord paralysis, Sleep Apnea, Obstructive, medicine.diagnostic_test, business.industry, General Medicine, Middle Aged, medicine.disease, Respiratory Function Tests, respiratory tract diseases, Obstructive sleep apnea, Anesthesia, Blood Gas Analysis, medicine.symptom, Respiratory Insufficiency, business, Vocal Cord Paralysis, Polyneuropathy, 030217 neurology & neurosurgery, circulatory and respiratory physiology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f654f9ba0b8ab15aab0ead4d4dee47c8Test
http://hdl.handle.net/20.500.12645/26495Test