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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: Gulshan Yunisova, Serdar Ceylaner, Piraye Oflazer, Feza Deymeer, Yesim Gülşen Parman, Hacer Durmus
المصدر: Neuromuscular disorders : NMD. 32(9)
مصطلحات موضوعية: Phenotype, Neurology, Turkey, Pediatrics, Perinatology and Child Health, Mutation, Humans, Neurology (clinical), Genetics (clinical), Muscular Dystrophy, Emery-Dreifuss, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c1434014ab7dee8b6f414fea89446eTest
https://pubmed.ncbi.nlm.nih.gov/35922275Test -
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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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المصدر: Acta neurologica Belgica. 121(6)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neurology, Mutation, Missense, Action Potentials, Bioinformatics, medicine.disease_cause, Neuromuscular junction, Protein Structure, Secondary, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Fluoxetine, medicine, Missense mutation, Humans, Receptors, Cholinergic, 030212 general & internal medicine, Amino Acid Sequence, Muscle, Skeletal, Exome sequencing, Sanger sequencing, Myasthenic Syndromes, Congenital, Mutation, Dose-Response Relationship, Drug, business.industry, General Medicine, Compound muscle action potential, Pedigree, Protein Structure, Tertiary, Nicotinic acetylcholine receptor, medicine.anatomical_structure, Treatment Outcome, symbols, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a83fd445ee709d38451a4488d96f3715Test
https://pubmed.ncbi.nlm.nih.gov/33030681Test -
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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: Katherine, Johnson, Willem, De Ridder, Ana, Töpf, Marta, Bertoli, Lauren, Phillips, Peter, De Jonghe, Jonathan, Baets, Tine, Deconinck, Vidosava, Rakocevic Stojanovic, Stojan, Perić, Hacer, Durmus, Shirin, Jamal-Omidi, Shahriar, Nafissi, Tiziana, Mongini, Anna, Łusakowska, Mark, Busby, James, Miller, Fiona, Norwood, Judith, Hudson, Rita, Barresi, Monkol, Lek, Daniel G, MacArthur, Volker, Straub
المصدر: Journal of Neurology, Neurosurgery, and Psychiatry
مصطلحات موضوعية: Adult, Male, muscular dystrophy, Ubiquitin-Protein Ligases, Middle Aged, PostScript, Magnetic Resonance Imaging, Tripartite Motif Proteins, Muscular Diseases, Muscular Dystrophies, Limb-Girdle, muscle disease, Mutation, Ethnicity, Humans, Female, neuromuscular, Muscle, Skeletal, Transcription Factors, myopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5cea806501789d91ba89610e58505907Test
https://pubmed.ncbi.nlm.nih.gov/29921608Test -
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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