المؤلفون: Lee, Young Lim, Bosse, Mirte, Takeda, Haruko, Moreira, Gabriel Costa Monteiro, Karim, Latifa, Druet, Tom, Oget-Ebrad, Claire, Coppieters, Wouter, Veerkamp, Roel F, Groenen, Martien A M, Georges, Michel, Bouwman, Aniek C, Charlier, Carole

المصدر: BMC Genomics, 24 (1), 225 (2023-05-01)

مصطلحات موضوعية: Cattle, Copy number variants, Linkage disequilibrium, Structural variants, Whole genome sequencing, eQTL, POPDC3 protein, human, Muscle Proteins, Cell Adhesion Molecules, Female, Humans, Animals, Genotype, DNA Copy Number Variations, Haplotypes, Polymorphism, Single Nucleotide, Muscle Proteins/genetics, Cell Adhesion Molecules/genetics, Genome, Genomics/methods, Genetics, Biotechnology, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: https://link.springer.com/content/pdf/10.1186/s12864-023-09259-8.pdfTest; urn:issn:1471-2164; https://orbi.uliege.be/handle/2268/303481Test; info:hdl:2268/303481; https://orbi.uliege.be/bitstream/2268/303481/1/Lee_BMC_Genomics_2023.pdfTest; scopus-id:2-s2.0-85158043751; info:pmid:37127590

الإتاحة: https://doi.org/10.1186/s12864-023-09259-8Test
https://orbi.uliege.be/handle/2268/303481Test
https://orbi.uliege.be/bitstream/2268/303481/1/Lee_BMC_Genomics_2023.pdfTest

المؤلفون: Lee, E. H., Gao, M., Pinotsis, N., Wilmanns, M., Schulten, K.

المصدر: Structure 14, 509 (2006). doi:10.1016/j.str.2005.12.005

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Binding Sites, Computer Simulation, Dimerization, Hydrogen Bonding, Models, Molecular, Muscle Proteins: chemistry, Muscle Proteins: genetics, Muscle Proteins: metabolism, Protein Binding, Protein Folding, Protein Kinases: chemistry, Protein Kinases: metabolism, Protein Structure, Secondary, Tertiary, Sarcomeres: chemistry, Stress, Mechanical, Structure-Activity Relationship, Muscle Proteins, TCAP protein, human, connectin, Protein Kinases

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/1878-4186; info:eu-repo/semantics/altIdentifier/issn/0969-2126; info:eu-repo/semantics/altIdentifier/pmid/pmid:16531234; info:eu-repo/semantics/altIdentifier/wos/WOS:000236259400014; https://bib-pubdb1.desy.de/record/80908Test; https://bib-pubdb1.desy.de/search?p=id:%22PHPPUBDB-3071%22Test

الإتاحة: https://doi.org/10.1016/j.str.2005.12.005Test
https://bib-pubdb1.desy.de/record/80908Test
https://bib-pubdb1.desy.de/search?p=id:%22PHPPUBDB-3071%22Test

المؤلفون: Jansen, Iris E, Gibbs, J Raphael, Hardy, John, Wood, Nicholas W, Morris, Huw R, Gasser, Thomas, Singleton, Andrew B, Heutink, Peter, Sharma, Manu, Consortium, International Parkinson's Disease Genomics, Nalls, Mike A, Price, T Ryan, Lubbe, Steven, van Rooij, Jeroen, Uitterlinden, André G, Kraaij, Robert, Williams, Nigel M, Brice, Alexis

المصدر: Neurobiology of aging 59, 220.e11-220.e18 (2017). doi:10.1016/j.neurobiolaging.2017.07.009

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Datasets as Topic, Genetic Loci: genetics, Genetic Predisposition to Disease: genetics, Genetic Variation: genetics, Genome-Wide Association Study, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2: genetics, Membrane Proteins: genetics, Mitochondrial Proteins: genetics, Muscle Proteins: genetics, Parkinson Disease: genetics, Risk, Seminal Plasma Proteins: genetics, GENX-3414 protein, human, Membrane Proteins, Mitochondrial Proteins, Muscle Proteins, SPATA19 protein, Seminal Plasma Proteins, LRRK2 protein, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:28867149; info:eu-repo/semantics/altIdentifier/issn/0197-4580; info:eu-repo/semantics/altIdentifier/issn/1558-1497; https://pub.dzne.de/record/139521Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-05843%22Test

الإتاحة: https://doi.org/10.1016/j.neurobiolaging.2017.07.009Test
https://pub.dzne.de/record/139521Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-05843%22Test

المؤلفون: Montenegro, Gladys, Rebelo, Adriana P, Strickland, Alleene, Gonzalez, Michael A, Baumbach-Reardon, Lisa, Deconinck, Tine, Huang, Jia, Bernardi, Giorgio, Vance, Jeffery M, Rogers, Mark T, Tsuji, Shoji, De Jonghe, Peter, Connell, James, Pericak-Vance, Margaret A, Schöls, Ludger, Orlacchio, Antonio, Reid, Evan, Züchner, Stephan, Allison, Rachel, Babalini, Carla, D'Aloia, Michela, Montieri, Pasqua, Schüle, Rebecca, Ishiura, Hiroyuki, Price, Justin

المصدر: The journal of clinical investigation 122(2), 538-544 (2012). doi:10.1172/JCI60560

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adenosine Triphosphatases: genetics, Adenosine Triphosphatases: metabolism, DNA Mutational Analysis, Endoplasmic Reticulum: metabolism, Endoplasmic Reticulum: ultrastructure, HEK293 Cells, HeLa Cells, Humans, Membrane Proteins: genetics, Membrane Proteins: metabolism, Muscle Proteins: genetics, Muscle Proteins: metabolism, Mutation, Nerve Tissue Proteins: genetics, Nerve Tissue Proteins: metabolism, Spastic Paraplegia, Hereditary: genetics, Hereditary: pathology, Hereditary: physiopathology, Spastin, Membrane Proteins, Muscle Proteins, Nerve Tissue Proteins, RTN2 protein, human, Adenosine Triphosphatases, SPAST protein

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/0021-9738; info:eu-repo/semantics/altIdentifier/pmid/pmid:22232211; info:eu-repo/semantics/altIdentifier/issn/1558-8238; https://pub.dzne.de/record/136420Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-02742%22Test

الإتاحة: https://doi.org/10.1172/JCI60560Test
https://pub.dzne.de/record/136420Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-02742%22Test

المؤلفون: Chen, X., Lee, G., Levinson, D.F., Gejman, P.V., Sanders, A., Duan, J., Owen, M.J., Craddock, N.J., O'Donovan, M.C., Blackman, J., Lewis, D., Kirov, G.K., Maher, B.S., Qin, W., Schwab, S., Wildenauer, D., Chowdari, K., Nimgaonkar, V., Straub, R.E., Weinberger, D.R., O'Neill, F.A., Walsh, D., Bronstein, M., Fanous, A.H., Darvasi, A., Lencz, T., Malhotra, A.K., Rujescu, D., Giegling, I., Werge, T., Hansen, T., Ingason, A., Noethen, M.M., Rietschel, M., Chen, J., Cichon, S., Djurovic, S., Andreassen, O.A., Cantor, R.M., Ophoff, R., Corvin, A., Morris, D.W., Gill, M., Pato, C.N., Pato, M.T., Zhao, Z., Macedo, A., Gurling, H.M., McQuillin, A., Pimm, J., Hultman, C., Lichtenstein, P., Sklar, P., Purcell, S.M., Scolnick, E., St, Clair D., Guo, A., Blackwood, D.H., Kendler, K.S., van den Oord, E., Sullivan, P.F., Shi, J.

المصدر: Molecular psychiatry 16, 1117 - 1129 (2011). doi:10.1038/mp.2010.96

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, African Americans: genetics, Carrier Proteins: genetics, Case-Control Studies, Data Mining, European Continental Ancestry Group: genetics, Genome-Wide Association Study, Germany: epidemiology, Germany: ethnology, Humans, Ireland: epidemiology, Jews: genetics, Linkage Disequilibrium, Muscle Proteins: genetics, Pennsylvania: epidemiology, Polymorphism, Single Nucleotide, Risk, Schizophrenia: epidemiology, Schizophrenia: ethnology, Schizophrenia: genetics, CMYA5 protein, human, Carrier Proteins, DTNBP1 protein, Muscle Proteins, association study, cardiomyopathy, GWA data mining

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:20838396; info:eu-repo/semantics/altIdentifier/issn/1359-4184; info:eu-repo/semantics/altIdentifier/wos/WOS:000296429100011; https://juser.fz-juelich.de/record/19823Test; https://juser.fz-juelich.de/search?p=id:%22PreJuSER-19823%22Test

الإتاحة: https://doi.org/10.1038/mp.2010.96Test
https://juser.fz-juelich.de/record/19823Test
https://juser.fz-juelich.de/search?p=id:%22PreJuSER-19823%22Test

المؤلفون: Gallardo, Eduard, de Luna Salva, Noemí, Diaz-Manera, Jordi, Rojas-Garcia, Ricard, Gonzalez-Quereda, L., Flix, Bàrbara, de Morrée, Antoine, van der Maarel, Silvère, Illa, Isabel, Universitat Autònoma de Barcelona

المصدر: PLoS ONE
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
PLoS ONE, 6(12)
PLoS One
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
PLoS ONE, Vol 6, Iss 12, p e29061 (2011)
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: Male, Pathology, Anatomy and Physiology, dysferlin myopathy, Biopsy, DNA Mutational Analysis, Lipopolysaccharide Receptors, Muscle Proteins, DYSF protein, human, Protein Synthesis, medicine.disease_cause, preschool child, Biochemistry, Muscular Dystrophies, Monocytes, Western blotting, Dysferlin, Monocytes/metabolism, membrane protein, genetics, gene mutation, Musculoskeletal System, comparative study, limb girdle muscular dystrophy, Muscle Proteins/genetics, Mutation, child, clinical article, Multidisciplinary, biology, medicine.diagnostic_test, adult, article, Neuromuscular Diseases, dysferlinopathy, aged, medicine.anatomical_structure, female, Neurology, immunohistochemistry, monocyte, Blood Chemistry, Lipopolysaccharide Receptors/metabolism, Immunohistochemistry, Muscle, Medicine, Female, dysferlin gene, medicine.symptom, muscle biopsy, myopathy, Research Article, mutational analysis, Adult, Dysferlinopathy, medicine.medical_specialty, Mutation/genetics, Science, Muscular Dystrophies, Limb-Girdle/diagnosis, muscle protein, Antigens, CD14, medicine, Humans, controlled study, human, Membrane Proteins/genetics, skeletal muscle, Myopathy, gene, Muscle, Skeletal, protein expression, Biology, Muscle, Skeletal/metabolism, Muscle biopsy, Plasma Proteins, human cell, solubility, Skeletal muscle, Proteins, Membrane Proteins, nucleotide sequence, CD14 antigen, medicine.disease, human tissue, dysferlin, Muscular Dystrophies, Limb-Girdle, Solubility, adolescent, biology.protein, gene expression, pathology, metabolism

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49021bb466532c6b22e57fd3201a9de0Test
http://europepmc.org/articles/PMC3241698Test

المؤلفون: Fong, GCY, Kung, AWC, Lau, KS, Chan, V

مصطلحات موضوعية: 5' Flanking Region - Genetics, Adult, Calcium Channels - Genetics, Chromosomes, Human, Pair 1, Genotype, Humans, Male, Microsatellite Repeats, Middle Aged, Muscle Proteins - Genetics, Paralyses, Familial Periodic - Genetics, Polymorphism, Single Nucleotide, Potassium Channels - Genetics, Potassium Channels, Voltage-Gated, Shaw Potassium Channels, Sodium Channels - Genetics, Thyrotoxicosis - Genetics

العلاقة: Journal of Clinical Endocrinology and Metabolism; http://www.scopus.com/mlt/select.url?eid=2-s2.0-1642365758&selection=ref&src=s&origin=recordpageTest; Journal Of Clinical Endocrinology And Metabolism, 2004, v. 89 n. 3, p. 1340-1345; 1345; 87824; WOS:000220030700050; eid_2-s2.0-1642365758; 1340; http://hdl.handle.net/10722/162810Test; 89

الإتاحة: https://doi.org/10.1210/jc.2003-030924Test
http://hdl.handle.net/10722/162810Test

المؤلفون: Chen, J, Liu, B, Liu, Y, Han, Y, Yu, H, Zhang, Y, Lu, L, Zhen, Y, Hui, R

مصطلحات موضوعية: Amino Acid Sequence, Animals, Aorta - Chemistry, Base Sequence, Carrier Proteins - Genetics - Physiology, Cell Division - Genetics, Chromosomes, Human, Pair 17, Cloning, Molecular, Endothelium, Vascular - Cytology - Growth & Development, Humans, In Situ Hybridization, Intracellular Signaling Peptides And Proteins, Male, Molecular Sequence Data, Muscle Proteins - Genetics - Physiology, Myocardial Ischemia - Pathology, Nerve Tissue Proteins - Genetics - Physiology, Open Reading Frames, Rats, Sprague-Dawley, Tumor Cells, Cultured, Up-Regulation

العلاقة: Biochemical and Biophysical Research Communications; http://www.scopus.com/mlt/select.url?eid=2-s2.0-0036290051&selection=ref&src=s&origin=recordpageTest; Biochemical And Biophysical Research Communications, 2002, v. 294 n. 1, p. 161-166; 166; WOS:000176234500027; eid_2-s2.0-0036290051; 161; http://hdl.handle.net/10722/147472Test; 294

الإتاحة: https://doi.org/10.1016/S0006-291XTest(02)00446-1
http://hdl.handle.net/10722/147472Test

المؤلفون: Haravuori, H., Vihola, A., Straub, V., Auranen, M., Richard, I., Marchand, S., Voit, T., Labeit, S., Somer, H., Peltonen, L., Beckmann, J. S., Udd, B.

المصدر: Neurology, vol. 56, no. 7, pp. 869-77

مصطلحات موضوعية: Animals Calpain/*deficiency Chromosomes, Human, Pair 2/*genetics Haplotypes Humans Immunohistochemistry In Situ Nick-End Labeling *Isoenzymes Linkage (Genetics)/*genetics Mice Muscle Proteins/*genetics Muscles/*pathology Muscular Dystrophies/*genetics/pathology Pedigree Protein Kinases/*genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/11294923; info:eu-repo/semantics/altIdentifier/pissn/0028-3878; https://serval.unil.ch/notice/serval:BIB_731FBFC2010ETest

الإتاحة: https://serval.unil.ch/notice/serval:BIB_731FBFC2010ETest

المؤلفون: Fung, KP, Lee, SMY, Tsui, SKW, Chan, KK, Kotaka, M, Li, HY, Chim, SSC, Waye, MMY, Lee, CY

مصطلحات موضوعية: Animals, Blotting, Northern, Chromosome Mapping, Chromosomes, Human, Pair 1 - Genetics, Cricetinae, Gene Expression Regulation, Homeodomain Proteins - Genetics, Humans, Hybrid Cells, Intracellular Signaling Peptides And Proteins, Lim Domain Proteins, Mice, Muscle Proteins - Genetics, Muscle, Skeletal - Metabolism, Rna, Messenger - Genetics - Metabolism, Tissue Distribution

العلاقة: Somatic Cell and Molecular Genetics; http://www.scopus.com/mlt/select.url?eid=2-s2.0-0032417228&selection=ref&src=s&origin=recordpageTest; Somatic Cell And Molecular Genetics, 1998, v. 24 n. 3, p. 197-202; 202; WOS:000079835900006; eid_2-s2.0-0032417228; 197; http://hdl.handle.net/10722/171652Test; 24

الإتاحة: https://doi.org/10.1023/B:SCAM.0000007122.03392.4bTest
http://hdl.handle.net/10722/171652Test