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

Relation: http://www.sciencedirect.com/science/article/pii/S2329050123000840; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/a9db696fcc7143e8a0480dc385b78ddf

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

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2023.1279700/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/35da4e2141714c0fa0e8671065cea821

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

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

URL الوصول: https://doaj.org/article/2adc7642487e43eab2c01182c7f5af74

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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

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

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المؤلفون: Morrow, Jasper M.^Aff4, Holton, Janice L.^Aff5, Turner, Chris^Aff4

المساهمون: Manji, Hadi, editor^Aff1, Turner, Chris, editor^Aff2, Evans, Matthew R. B., editor^Aff3

المصدر: Neuromuscular Disease : Case Studies from Queen Square. :187-190

Degree: FRACP, MBChB
PhD, MBChB, FRCPath
FRCP, PhD

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المؤلفون: Qing Yu, Melissa Morales, Ning Li, Alexander G. Fritz, Ren Ruobing, Anthony Blaeser, Ershia Francois, Qi-Long Lu, Kanneboyina Nagaraju, Christopher F. Spurney

المصدر: Skeletal Muscle, Vol 8, Iss 1, Pp 1-16 (2018)

مصطلحات موضوعية: Limb-girdle muscular dystrophy, Congenital muscular dystrophy, Fukutin related protein (FKRP), P448Lneo− mice, Echocardiography, Plethysmography, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13395-018-0158-x; https://doaj.org/toc/2044-5040

URL الوصول: https://doaj.org/article/da87a25b707e419a9ecb00a58261eef6

المؤلفون: Charles Harvey Vannoy, Will Xiao, Peijuan Lu, Xiao Xiao, Qi Long Lu

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 5, Iss C, Pp 31-42 (2017)

مصطلحات موضوعية: adeno-associated virus, dystroglycanopathy, fukutin-related protein, gene therapy, muscular dystrophy, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050117300426; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/910001a269fb4a159546e8b84cb7dd87