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1دورية أكاديمية
المؤلفون: Goold, R, Hamilton, J, Menneteau, T, Flower, M, Bunting, EL, Aldous, SG, Porro, A, Vicente, JR, Allen, ND, Wilkinson, H, Bates, GP, Sartori, AA, Thalassinos, K, Balmus, G, Tabrizi, SJ
المصدر: Cell Reports , 36 (9) , Article 109649. (2021)
مصطلحات موضوعية: Huntington’s disease, repeat expansion, GWASCAG instability, DNA repair, mismatch repair, FAN1, MLH1, MSH3, FAN1 nuclease activity
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10134226/1/1-s2.0-S2211124721010925-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10134226Test/
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2دورية أكاديمية
المؤلفون: Goold, R, Flower, M, Moss, DH, Medway, C, Wood-Kaczmar, A, Andre, R, Farshim, P, Bates, GP, Holmans, P, Jones, L, Tabrizi, SJ
المصدر: Human Molecular Genetics , Article ddy375. (2018)
مصطلحات موضوعية: stem cells huntington's disease age of onset chromosomes, human, pair 15 disease progression dna exons genome neurodegenerative disorders neurons trinucleotide repeats genetics protein overexpression therapeutic intervention nuclease genome-wide association study htt gene binding (molecular function)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10061177/1/ddy375.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10061177Test/
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3دورية أكاديمية
المؤلفون: McKinnon, C, Goold, R, Andre, R, Devoy, A, Ortega, Z, Moonga, J, Linehan, JM, Brandner, S, Lucas, JJ, Collinge, J, Tabrizi, SJ
المصدر: Acta Neuropathologica , 131 (3) pp. 411-425. (2016)
مصطلحات موضوعية: Neurodegeneration, PrP, Prion, Proteasome, UPS
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1476782/1/Prion-mediated%20neurodegeneration%20is%20associated%20with%20early%20impairment%20of%20the%20ubiquitin-proteasome%20system.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1476782Test/
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4دورية أكاديمية
المؤلفون: Goold, R, McKinnon, C, Tabrizi, SJ
المصدر: Molecular and Cellular Neuroscience , 66 (Part A) pp. 12-20. (2015)
مصطلحات موضوعية: Autophagy, Lysosomal degradation, PrP(Sc), Prion disease, Proteasome, Therapeutics
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1465361/1/1-s2.0-S1044743115000020-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1465361Test/
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5دورية أكاديمية
المؤلفون: Deriziotis, P., André, R., Smith, D., Goold, R., Kinghorn, K., Kristiansen, M., Nathan, J., Rosenzweig, R., Krutauz, D., Glickman, M., Collinge, J., Goldberg, A., Tabrizi, S.
المصدر: EMBO Journal
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/11858/00-001M-0000-0012-2679-BTest; http://hdl.handle.net/11858/00-001M-0000-0012-2677-FTest; http://hdl.handle.net/11858/00-001M-0000-0012-2678-DTest
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6دورية أكاديمية
المؤلفون: Goold, R., Rabbanian, S., Sutton, L., Andre, R., Arora, P., Moonga, J., Clarke, A.R., Schiavo, G., Jat, P., Collinge, J., Tabrizi, S.J.
المصدر: Nature Communications ; volume 2, issue 1 ; ISSN 2041-1723
مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary
الإتاحة: https://doi.org/10.1038/ncomms1282Test
https://www.nature.com/articles/ncomms1282.pdfTest
https://www.nature.com/articles/ncomms1282Test -
7دورية أكاديمية
المؤلفون: Novak, M, Davis, M, Li, A, Goold, R, Tabrizi, S J, Sweeney, M G, Houlden, H, Treacy, C, Giunti, P
مصطلحات موضوعية: ABN Abstracts
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/81/11/e32-bTest; http://dx.doi.org/10.1136/jnnp.2010.226340.60Test
الإتاحة: https://doi.org/10.1136/jnnp.2010.226340.60Test
http://jnnp.bmj.com/cgi/content/short/81/11/e32-bTest -
8دورية أكاديمية
المؤلفون: Goold, R., Hubank, M., Hunt, A., Holton, J., Menon, R. P., Revesz, T., Pandolfo, M., Matilla-Duenas, A.
المصدر: Human Molecular Genetics ; volume 16, issue 17, page 2122-2134 ; ISSN 0964-6906 1460-2083
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine
الإتاحة: https://doi.org/10.1093/hmg/ddm162Test
https://academic.oup.com/hmg/article/16/17/2122/2527365/Downregulation-of-the-dopamine-receptor-D2-in-miceTest -
9مؤتمر
المؤلفون: Novak, M. J., Sweeney, M., Treacy, C., Giunti, P., Goold, R., Houlden, H., Tabrizi, S. J.
مصطلحات موضوعية: R Medicine
وصف الملف: text
العلاقة: https://openaccess.city.ac.uk/id/eprint/7201/1/An%20ITPR1%20gene%20deletion%20causes%20SCA15%20and%2016.pdfTest; Novak, M. J., Sweeney, M., Treacy, C. , Giunti, P., Goold, R., Houlden, H. Tabrizi, S. J.view all authorsEPJS_limit_names_shown_load( 'creators_name_7201_et_al', 'creators_name_7201_rest' ); (2011). An ITPR1 gene deletion causes SCA15 and 16; a genetic, clinical and radiological description. Paper presented at the Association of British Neurologists Annual Meeting, 12-05-2011, Tregonwell Hall, Bournemouth International Conference Centre.
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10مؤتمر
المؤلفون: Novak, M, Davis, M, Li, A, Goold, R, Tabrizi, S J, Sweeney, M G, Houlden, H, Treacy, C, Giunti, P
مصطلحات موضوعية: Pre-clinical and human biological sciences
العلاقة: Novak, M, Davis, M, Li, A, Goold, R, Tabrizi, S J, Sweeney, M G, Houlden, H, Treacy, C and Giunti, P (2010) ITPR1 gene deletion causes Spinocerebellar Ataxia 15/16: a genetic, clinical and radiological description of a novel kindred. In: Association of British Neurologists Annual Meeting 2010; 11-14 May 2010, Bournemouth, U.K.
الإتاحة: https://doi.org/10.1136/jnnp.2010.226340.60Test
https://eprints.kingston.ac.uk/id/eprint/34775Test/
