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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: Jiri Pitha, Güher Saruhan-Direskeneli, F. Hanisch, Eleni Zamba-Papanicolaou, Talma Brenner, Beata Szyluk, Siegfried Labeit, Socrates J. Tzartos, C. Casasnovas Pons, John Tzartos, Dittmar Labeit, Julius Bogomolovas, Nils Erik Gilhus, Pilar Martinez-Martinez, Anna Kostera-Pruszczyk, Christos Stergiou, Ivana Basta, Konstantinos Lazaridis, Anthony Behin, Hacer Durmus, Francesca Andreetta, Angelina H. Maniaol, Sonia Berrih-Aknin, Kleopas A. Kleopa, A. Vaknin, Amelia Evoli, Piotr Szczudlik, Renato Mantegazza, M. De Baets, Tassos C. Kyriakides, Tarek Sharshar, Carlo Antozzi, M. Jakubíkova, Vasiliki Zouvelou, Chantal M. E. Tallaksen, Stojan Peric, Feza Deymeer, Dragana Lavrnic, Mario Losen
المساهمون: RS: MHeNs - R3 - Neuroscience, Psychiatrie & Neuropsychologie
المصدر: Journal of Neuroimmunology
Journal of Neuroimmunology, 292, 108-115. Elsevierمصطلحات موضوعية: 0301 basic medicine, Seronegative, Male, Radioimmunoprecipitation Assay, animal structures, Titin, International Cooperation, Immunology, Enzyme-Linked Immunosorbent Assay, Serology, 03 medical and health sciences, 0302 clinical medicine, Antigen, Receptors, Diagnosis, Myasthenia Gravis, Autoantibodies, Myasthenia gravis, Radioimmunoprecipitation assay, Connectin, Female, Humans, LDL-Receptor Related Proteins, Receptor Protein-Tyrosine Kinases, Receptors, Cholinergic, Immunology and Allergy, Neurology, Neurology (clinical), Medicine, Myopathy, Cholinergic, Autoimmune disease, biology, business.industry, Autoantibody, musculoskeletal system, medicine.disease, 3. Good health, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, biology.protein, Antibody, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3246f6c7af141f9bf43c1530ed6c7536Test
https://pubmed.ncbi.nlm.nih.gov/26943968Test -
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المؤلفون: Feza Deymeer, Kostas Poulas, Yesim Gulsen-Parman, Piraye Oflazer, Hacer Durmus, Erdem Tüzün, Fikret Aysal, Alexander Marx, Vuslat Yilmaz, Güher Saruhan-Direskeneli, Sibel P. Yentür, Socrates J. Tzartos
المصدر: PLoS ONE
PLoS ONE, Vol 10, Iss 4, p e0123546 (2015)مصطلحات موضوعية: Adult, CD4-Positive T-Lymphocytes, Male, medicine.medical_specialty, CD3 Complex, Science, medicine.medical_treatment, CD40 Ligand, Neuromuscular transmission, Cell Separation, Peripheral blood mononuclear cell, 03 medical and health sciences, 0302 clinical medicine, Immune system, Internal medicine, Myasthenia Gravis, medicine, Humans, Receptors, Cholinergic, RNA, Messenger, Receptor, Autoantibodies, Demography, Immunosuppression Therapy, Multidisciplinary, CD40, biology, Interleukin-12 Subunit p40, Receptor Protein-Tyrosine Kinases, medicine.disease, Myasthenia gravis, 3. Good health, Endocrinology, Cytokine, Immunology, biology.protein, Leukocytes, Mononuclear, Medicine, Cytokines, Female, Antibody, 030217 neurology & neurosurgery, 030215 immunology, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1875a70e7cb11c750cc4c1b6337a0a7Test
http://europepmc.org/articles/PMC4403992Test -
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المؤلفون: Hacer Durmus, Feza Deymeer, Piraye Serdaroglu-Oflazer
مصطلحات موضوعية: 0303 health sciences, Pathology, medicine.medical_specialty, business.industry, Emerin, Dilated cardiomyopathy, Laminopathy, medicine.disease, FHL1, 3. Good health, LMNA, Transplantation, 03 medical and health sciences, 0302 clinical medicine, medicine, Emery–Dreifuss muscular dystrophy, Muscular dystrophy, business, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::85069efd1cc20cd971cf0f53991f2746Test
https://doi.org/10.1016/b978-0-12-417044-5.00035-4Test