المؤلفون: Dong-Won Seol, Byoung-Jin Park, Deog-Bon Koo, Ji-Su Kim, Yong-Hyun Jeon, Jae-Eon Lee, Joon-Suk Park, Hoon Jang, Gabbine Wee

المصدر: Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 3752-3762 (2024)

مصطلحات موضوعية: Fukuyama congenital muscular dystrophy, fukutin gene, knockout rat model, CRISPR/Cas9, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1467-3045/46/5/234Test; https://doaj.org/toc/1467-3037Test; https://doaj.org/toc/1467-3045Test

الوصول الحر: https://doaj.org/article/5880472cb97c461a8900774c54fd234aTest

المؤلفون: Halli Benasutti, Joseph W. Maricelli, Jane Seto, John Hall, Christine Halbert, Jacqueline Wicki, Lydia Heusgen, Nicholas Purvis, Michael Regnier, David C. Lin, Buel D. Rodgers, Jeffrey S. Chamberlain

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 65-80 (2023)

مصطلحات موضوعية: gene therapy, fukutin-related protein, FKRP, limb-girdle muscular dystrophy type R9 (LGMDR9), adeno-associated viral vector (AAV), physiology, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050123000840Test; https://doaj.org/toc/2329-0501Test

الوصول الحر: https://doaj.org/article/a9db696fcc7143e8a0480dc385b78ddfTest

المؤلفون: Christopher T. Esapa, R. A. Jeffrey McIlhinney, Adrian J. Waite, Matthew A. Benson, Jasmin Mirzayan, Henriett Piko, Ágnes Herczegfalvi, Rita Horvath, Veronika Karcagi, Maggie C. Walter, Hanns Lochmüller, Pierre J. Rizkallah, Qi L. Lu, Derek J. Blake

المصدر: Frontiers in Molecular Biosciences, Vol 10 (2023)

مصطلحات موضوعية: fukutin-related protein, muscular dystrophy, protein misfolding, missense mutation, chaperone, structural modelling, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmolb.2023.1279700/fullTest; https://doaj.org/toc/2296-889XTest

الوصول الحر: https://doaj.org/article/35da4e2141714c0fa0e8671065cea821Test

المؤلفون: Marine Geoffroy, Louna Pili, Valentina Buffa, Maëlle Caroff, Anne Bigot, Evelyne Gicquel, Grégory Rouby, Isabelle Richard, Romain Fragnoud

المصدر: Cells, Vol 12, Iss 20, p 2444 (2023)

مصطلحات موضوعية: Limb-Girdle Muscular Dystrophy Type 9, Fukutin-related protein (FKRP), CRISPR, knock-out, potency assay, gene therapy, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4409/12/20/2444Test; https://doaj.org/toc/2073-4409Test

الوصول الحر: https://doaj.org/article/2adc7642487e43eab2c01182c7f5af74Test

المؤلفون: Aartsma-Rus, A., Ferlini, A., McNally, E. M., Spitali, P., Sweeney, H. L., Al-Khalili Szigyarto, Cristina, Bello, L., Bronson, A., Brown, K., Buccella, F., Chadwick, J., Frank, D., Hoffman, E., Larkindale, J., McClorey, G., Munschauer, R., Muntoni, F., Owens, J., Schara, U., Straub, V., Tinsley, J., Versnel, J., Vroom, E., Welch, E.

المصدر: Neuromuscular Disorders. 28(1):77-86

مصطلحات موضوعية: Biobank, Biomarker, Duchenne muscular dystrophy, Dystrophin, MRI, alanine aminotransferase, aspartate aminotransferase, biological marker, carbonate dehydratase III, corticosteroid, dysferlin, enolase, fukutin related protein, glucocorticoid receptor, glutamate dehydrogenase, immunoglobulin enhancer binding protein, microRNA, microRNA 133a, microRNA 133b, osteopontin, protein enolase 3, stromelysin, unclassified drug, utrophin, vamorolone, alanine aminotransferase level, aspartate aminotransferase blood level, Becker muscular dystrophy, blood analysis, blood sampling, Conference Paper, corticosteroid therapy, CRISPR-CAS9 system, DNA modification, drug design, exon, exon skipping, gene, gene expression, human, lipidomics, LTBP4 gene, Netherlands, nonhuman, nuclear magnetic resonance imaging, priority journal, protein expression, real time polymerase chain reaction, single nucleotide polymorphism, SPP1 gene, urinalysis, urine sampling, workshop, animal, information dissemination, male, metabolism, non profit organization, validation study, Animals, Biomarkers, Humans, Muscular Dystrophy, Duchenne, Organizations, Nonprofit, Validation Studies as Topic

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-282709Test
https://doi.org/10.1016/j.nmd.2017.10.002Test

المؤلفون: Murphy, Lindsay B., Stevenson, John Herbert, Straub, Volker

المساهمون: UMass Memorial Health Care

المصدر: Annals of clinical and translational neurology

مصطلحات موضوعية: FKRP, Limb Girdle Muscular Dystrophy R9, Fukutin-Related Protein, LGMDR9, registry, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Musculoskeletal Diseases, Nervous System Diseases, Neurology

العلاقة: Link to Article in PubMed; Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmüller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Ann Clin Transl Neurol. 2020 Apr 28. doi:10.1002/acn3.51042. Epub ahead of print. PMID: 32342672. Link to article on publisher's site; 2328-9503 (Linking); http://hdl.handle.net/20.500.14038/41423Test; https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=5223&context=oapubs&unstamped=1Test; https://escholarship.umassmed.edu/oapubs/4204Test; oapubs/4204

الإتاحة: https://doi.org/10.1002/acn3.51042Test
https://doi.org/20.500.14038/41423Test
https://hdl.handle.net/20.500.14038/41423Test
https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=5223&context=oapubs&unstamped=1Test
https://escholarship.umassmed.edu/oapubs/4204Test

المؤلفون: Anna Gaertner, Lidia Burr, Baerbel Klauke, Andreas Brodehl, Kai Thorsten Laser, Karin Klingel, Jens Tiesmeier, Uwe Schulz, Edzard zu Knyphausen, Jan Gummert, Hendrik Milting

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 12; Pages: 6685

مصطلحات موضوعية: cardiogenetics, cardiomyopathy, dystroglycanopathy, fukutin, heart failure

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms23126685Test

الإتاحة: https://doi.org/10.3390/ijms23126685Test

المؤلفون: Kanagawa, Motoi, Toda, Tatsushi

مصطلحات موضوعية: Muscular dystrophy, dystroglycanopathy, dystroglycan, glycosylation, ribitol-phosphate, fukutin, fukutin-relatedprotein, isoprenoid synthase domain containing protein

العلاقة: info:doi/10.3233/JND-170255

الإتاحة: http://www.lib.kobe-u.ac.jp/handle_kernel/90006853Test
http://www.lib.kobe-u.ac.jp/repository/90006853.pdfTest

المؤلفون: AJ Wood (11111265), CH Lin (11111268), M Li (3216264), K Nishtala (11111271), S Alaei (11111274), F Rossello (11111277), C Sonntag (11111280), L Hersey (11111283), Lee Miles (9489683), C Krisp (11111286), S Dudczig (11111289), AJ Fulcher (11111292), S Gibertini (11111295), PJ Conroy (11111298), A Siegel (11111301), M Mora (11111304), P Jusuf (11111307), NH Packer (11111310), PD Currie (11111313)

مصطلحات موضوعية: Uncategorized, Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, STRUCTURAL-ANALYSIS, ALPHA-DYSTROGLYCAN, ZEBRAFISH EMBRYOS, FUKUTIN, BINDING, MUTATIONS, GLYCANS, MODELS, 2I, Muscle, Skeletal, Basement Membrane, Cell Line, Myoblasts, Animals, Zebrafish, Humans, Muscular Dystrophies, Limb-Girdle, Disease Models, Animal, Muscular Dystrophy, Glycosyltransferases, Pentosyltransferases, Zebrafish Proteins, Fibronectins

العلاقة: https://figshare.com/articles/journal_contribution/FKRP-dependent_glycosylation_of_fibronectin_regulates_muscle_pathology_in_muscular_dystrophy/14957133Test

الإتاحة: https://doi.org/10.26181/60ed15b85ffe0Test

المؤلفون: Yukinori Okamura, Tomoko Yamamoto, Ryota Tsukui, Yoichiro Kato, Noriyuki Shibata

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 22; Pages: 12153

مصطلحات موضوعية: activator protein-1, astrocytes, cell proliferation, c-Jun, cyclin D1, fukutin, Fukuyama congenital muscular dystrophy

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Biology; https://dx.doi.org/10.3390/ijms222212153Test

الإتاحة: https://doi.org/10.3390/ijms222212153Test