المساهمون: Ha Young Shin, Hoon Jang, Joo Hyung Han, Hyung Jun Park, Jung Hwan Lee, So Won Kim, Seung Min Kim, Young-Eun Park, Dae-Seong Kim, Duhee Bang, Min Goo Lee, Ji Hyun Lee, Young-Chul Choi, Kim, Seung Min, Shin, Ha Young, Lee, Min Goo, Lee, Jung Hwan, Lee, Ji Hyun, Choi, Young Chul

مصطلحات موضوعية: Adolescent, Adult, Child, DNA Mutational Analysis, Dysferlin, Female, High-Throughput Nucleotide Sequencing, Humans, Male, Membrane Proteins/genetics, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/diagnosis, Limb-Girdle/genetics, Young Adult, DYSF, Dysferlinopathy, Hybridization capture, Mutation, Next-generation sequencing

وصف الملف: 502~510

العلاقة: NEUROMUSCULAR DISORDERS; J02344; OAK-2015-00991; https://ir.ymlib.yonsei.ac.kr/handle/22282913/140151Test; http://www.sciencedirect.com/science/article/pii/S0960896615001005Test; T201501491; NEUROMUSCULAR DISORDERS, Vol.25(6) : 502-510, 2015

الإتاحة: https://doi.org/10.1016/j.nmd.2015.03.006Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/140151Test
http://www.sciencedirect.com/science/article/pii/S0960896615001005Test

المساهمون: Hyung Jun Park, Ji-Man Hong, Gyoung Im Suh, Ha Young Shin, Seung Min Kim, Il Nam Sunwoo, Bum Chun Suh, Young-Chul Choi, Kim, Seung Min, Park, Hyung Jun, Sunwoo, Il Nam, Shin, Ha Young, Choi, Young Chul, Hong, Ji Man

المصدر: T201201163.pdf

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Creatine Kinase/blood, Distal Myopathies/pathology, Dysferlin, Female, Humans, Immunohistochemistry, Male, Membrane Proteins/genetics, Middle Aged, Muscle Proteins/genetics, Muscular Atrophy/pathology, Muscular Dystrophies, Limb-Girdle/diagnosis, Limb-Girdle/genetics, Limb-Girdle/pathology, Mutation, Phenotype, Republic of Korea, Tomography, X-Ray Computed, Young Adult, Limb-Girdle Muscular Dystrophy Type 2B, Miyoshi Myopathy, mmunohistochemistry

العلاقة: JOURNAL OF KOREAN MEDICAL SCIENCE; J01517; OAK-2012-00641; https://ir.ymlib.yonsei.ac.kr/handle/22282913/90887Test; T201201163; JOURNAL OF KOREAN MEDICAL SCIENCE, Vol.27(4) : 423-429, 2012

الإتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/90887Test

المساهمون: Seung Hun Oh, Tai Seung Kim, Young Chul Choi, Choi, Young Chul

المصدر: T200404249.pdf

مصطلحات موضوعية: Adult, Caveolin 3, Caveolins/analysis, Distal Myopathies/genetics, Dysferlin, Humans, Immunohistochemistry, Male, Membrane Proteins/chemistry, Membrane Proteins/genetics, Muscle Proteins/chemistry, Muscle Proteins/genetics, Mutation, Miyoshi myopathy (MM), DYSF gene

وصف الملف: 927~930

العلاقة: YONSEI MEDICAL JOURNAL; J02813; OAK-2004-01804; https://ir.ymlib.yonsei.ac.kr/handle/22282913/112911Test; T200404249; YONSEI MEDICAL JOURNAL, Vol.45(5) : 927-930, 2004

الإتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/112911Test

المؤلفون: Hans H. Jung, Michael Sinnreich, Jens A. Petersen, Wolfram Kress, Thierry Kuntzer, Angela Huebner, Elisabeth J. Rushing, Maja von der Hagen, Johannes Alexander Lobrinus, Veronika Kana, Dirk Fischer

المساهمون: University of Zurich, Petersen, Jens A

المصدر: BMC Neurology, Vol. 15 (2015) P. 182
BMC neurology
BMC Neurology
Bmc Neurology, vol. 15, no. 1, pp. 182

مصطلحات موضوعية: Adult, Male, Heterozygote, Dysferlinopathy, Adolescent, Clinical Neurology, 10208 Institute of Neuropathology, Muscle Proteins, 610 Medicine & health, ddc:616.07, medicine.disease_cause, Dysferlin, Young Adult, medicine, Humans, Myopathy, ddc:611, Genetics, Mutation, biology, Genetic heterogeneity, business.industry, Homozygote, Haplotype, Membrane Proteins, General Medicine, Anatomy, Middle Aged, medicine.disease, Founder Effect, 10040 Clinic for Neurology, 3. Good health, 2728 Neurology (clinical), Phenotype, Muscular Dystrophies, Limb-Girdle, Female, Membrane Proteins/genetics, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Switzerland, biology.protein, Neurology (clinical), medicine.symptom, business, Research Article, Limb-girdle muscular dystrophy, Founder effect

وصف الملف: s12883-015-0449-3.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5d47ec334c3e9a41a950925d0c5859Test
https://doi.org/10.1186/s12883-015-0449-3Test

المؤلفون: Laure Grand Moursel, Rune R. Frants, Jun Wang, René E. M. Toes, Ivana Bagaric, Silvère M. van der Maarel, Eduard Gallardo, Bàrbara Flix, Antoine de Morrée, Isabel Illa, Marlinde L. van den Boogaard

المصدر: JOURNAL OF BIOLOGICAL CHEMISTRY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Journal of Biological Chemistry, 288(20), 14147-14157
de Morrée, A, Flix, B, Bagaric, I, Wang, J, van den Boogaard, M, Grand Moursel, L, Frants, R R, Illa, I, Gallardo, E, Toes, R & van der Maarel, S M 2013, ' Dysferlin regulates cell adhesion in human monocytes ', The Journal of Biological Chemistry, vol. 288, no. 20, pp. 14147-14157 . https://doi.org/10.1074/jbc.M112.448589Test

مصطلحات موضوعية: Monocytes/cytology, Dysferlinopathy, Integrin, Cell, Muscle Proteins, Biology, Biochemistry, Monocytes, Muscular Dystrophies, Dysferlin, Cell membrane, medicine, Cell Adhesion, Humans, Muscular Dystrophies/metabolism, Membrane Proteins/genetics, Muscle, Skeletal, Cell adhesion, Molecular Biology, Inflammation, Muscle Proteins/genetics, Muscle, Skeletal/metabolism, Monocyte, Macrophages, Integrin beta3, Muscular Dystrophies, Limb-Girdle/genetics, Membrane Proteins, Cell Differentiation, Cell Biology, biochemical phenomena, metabolism, and nutrition, medicine.disease, Cell biology, Fibronectin, medicine.anatomical_structure, Muscular Dystrophies, Limb-Girdle, Gene Expression Regulation, Immune System, Mutation, biology.protein, Integrin beta3/metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed5bf61dc43b228f7acaa8aa2ad1ec10Test
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10011Test

المؤلفون: van Haagen, Herman H H B M, 't Hoen, Peter A C, de Morrée, Antoine, van Roon-Mom, Willeke M C, Peters, Dorien J M, Roos, Marco, Mons, Barend, van Ommen, Gert-Jan, Schuemie, Martijn J

المصدر: van Haagen , H H H B M , 't Hoen , P A C , de Morrée , A , van Roon-Mom , W M C , Peters , D J M , Roos , M , Mons , B , van Ommen , G-J & Schuemie , M J 2011 , ' In silico discovery and experimental validation of new protein-protein interactions ' , Proteomics , vol. 11 , no. 5 , pp. 843-53 . https://doi.org/10.1002/pmic.201000398Test

مصطلحات موضوعية: Algorithms, Animals, Computational Biology/methods, Databases, Protein, Drosophila, Dysferlin, Gene Expression, Humans, Huntingtin Protein, Huntington Disease/genetics, Membrane Proteins/genetics, Mice, Molecular Targeted Therapy, Muscle Proteins/genetics, Muscular Dystrophies/genetics, Nerve Tissue Proteins/genetics, Nuclear Proteins/genetics, Polycystic Kidney Diseases/genetics, Predictive Value of Tests, Probability, Protein Binding, Protein Interaction Mapping/methods, Protein Structure, Tertiary, RNA, Messenger

العلاقة: https://pure.au.dk/portal/en/publications/9fec32d3-d7f2-43e8-90ed-edc6bc211d2dTest

الإتاحة: https://doi.org/10.1002/pmic.201000398Test
https://pure.au.dk/portal/en/publications/9fec32d3-d7f2-43e8-90ed-edc6bc211d2dTest

المؤلفون: Gallardo, Eduard, de Luna, Noemi, Diaz-Manera, Jordi, Rojas-García, Ricardo, Gonzalez-Quereda, Lidia, Flix, Bàrbara, de Morrée, Antoine, van der Maarel, Silvère, Illa, Isabel

المصدر: Gallardo , E , de Luna , N , Diaz-Manera , J , Rojas-García , R , Gonzalez-Quereda , L , Flix , B , de Morrée , A , van der Maarel , S & Illa , I 2011 , ' Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy ' , PLOS ONE , vol. 6 , no. 12 , pp. e29061 . https://doi.org/10.1371/journal.pone.0029061Test

مصطلحات موضوعية: Adult, Biopsy, DNA Mutational Analysis, Dysferlin, Female, Humans, Lipopolysaccharide Receptors/metabolism, Male, Membrane Proteins/genetics, Monocytes/metabolism, Muscle Proteins/genetics, Muscle, Skeletal/metabolism, Muscular Dystrophies, Limb-Girdle/diagnosis, Mutation/genetics, Solubility

الإتاحة: https://doi.org/10.1371/journal.pone.0029061Test
https://pure.au.dk/portal/da/publications/comparison-ofTest-dysferlin-expression-in-human-skeletal-muscle-with-that-in-monocytes-for-the-diagnosis-of-dysferlin-myopathy(a8908b65-83f6-4cc8-8cce-2259645f1c20).html

المؤلفون: Herman H. H. B. M. van Haagen, Martijn J. Schuemie, D.J.M. (Dorien) Peters, Willeke M. C. van Roon-Mom, Gert-Jan B. van Ommen, Antoine de Morrée, Marco Roos, Peter A C 't Hoen, Barend Mons

المساهمون: Obstetrics & Gynecology, Medical Informatics

المصدر: Proteomics, 11(5), 843-853. Wiley-VCH
Proteomics
Proteomics, 11(5), 843-53
van Haagen, H H H B M, 't Hoen, P A C, de Morrée, A, van Roon-Mom, W M C, Peters, D J M, Roos, M, Mons, B, van Ommen, G-J & Schuemie, M J 2011, ' In silico discovery and experimental validation of new protein-protein interactions ', Proteomics, vol. 11, no. 5, pp. 843-53 . https://doi.org/10.1002/pmic.201000398Test

مصطلحات موضوعية: Huntingtin, Gene Expression, Muscle Proteins, Biochemistry, Muscular Dystrophies, Dysferlin, Mice, Protein Interaction Mapping, Polycystic kidney disease, Muscular Dystrophies/genetics, Nerve Tissue Proteins/genetics, Molecular Targeted Therapy, Databases, Protein, Huntington Disease/genetics, Muscle Proteins/genetics, Genetics, Huntingtin Protein, Polycystic Kidney Diseases, String (computer science), Nuclear Proteins, Experimental validation, Polycystic Kidney Diseases/genetics, Huntington Disease, Drosophila, Algorithms, Protein Binding, Protein Interaction Mapping/methods, In silico, Protein domain, Nerve Tissue Proteins, Biology, Protein–protein interaction, SDG 3 - Good Health and Well-being, Predictive Value of Tests, medicine, Animals, Humans, RNA, Messenger, Membrane Proteins/genetics, Molecular Biology, Probability, Computational Biology, Membrane Proteins, Computational Biology/methods, medicine.disease, Protein Structure, Tertiary, Nuclear Proteins/genetics, biology.protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8f414fbdcc4e4342618b6a4c49c85eTest
https://pubmed.ncbi.nlm.nih.gov/21280221Test