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1دورية أكاديمية
المؤلفون: Ferguson, Ross1,2 (AUTHOR), Goold, Robert1,2 (AUTHOR), Coupland, Lucy1,2 (AUTHOR), Flower, Michael1,2 (AUTHOR), Tabrizi, Sarah J.1,2 (AUTHOR) s.tabrizi@ucl.ac.uk
المصدر: American Journal of Human Genetics. Jun2024, Vol. 111 Issue 6, p1165-1183. 19p.
مصطلحات موضوعية: *HUNTINGTON disease, *DNA mismatch repair, *GENE expression, *TRINUCLEOTIDE repeats, *GENOME-wide association studies
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2رسالة جامعية
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3دورية أكاديمية
المؤلفون: Goold, Robert, Hamilton, Joseph, Menneteau, Thomas, Flower, Michael, Bunting, Emma L, Aldous, Sarah G, Porro, Antonio, Vicente, José R, Allen, Nicholas D, Wilkinson, Hilary, Bates, Gillian P, Sartori, Alessandro A, Thalassinos, Konstantinos, Balmus, Gabriel, Tabrizi, Sarah J
المصدر: Goold, Robert; Hamilton, Joseph; Menneteau, Thomas; Flower, Michael; Bunting, Emma L; Aldous, Sarah G; Porro, Antonio; Vicente, José R; Allen, Nicholas D; Wilkinson, Hilary; Bates, Gillian P; Sartori, Alessandro A; Thalassinos, Konstantinos; Balmus, Gabriel; Tabrizi, Sarah J (2021). FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease. Cell Reports, 36(9):109649.
مصطلحات موضوعية: Institute of Molecular Cancer Research, 570 Life sciences, biology, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/206451/1/PIIS2211124721010925.pdfTest; info:pmid/34469738; urn:issn:2211-1247
الإتاحة: https://doi.org/10.5167/uzh-20645110.1016/j.celrep.2021.109649Test
https://www.zora.uzh.ch/id/eprint/206451Test/
https://www.zora.uzh.ch/id/eprint/206451/1/PIIS2211124721010925.pdfTest -
4دورية أكاديمية
المؤلفون: Goold, Robert, Flower, Michael, Moss, Davina Hensman, Medway, Christopher, Wood-Kaczmar, Alison, Andre, Ralph, Farshim, Pamela, Bates, Gill P, Holmans, Peter, Jones, Lesley, Tabrizi, Sarah J
وصف الملف: application/pdf
العلاقة: https://orca.cardiff.ac.uk/id/eprint/116223/7/ddy375.pdfTest; Goold, Robert, Flower, Michael, Moss, Davina Hensman, Medway, Christopher orcid:0000-0002-1764-0587 orcid:0000-0002-1764-0587, Wood-Kaczmar, Alison, Andre, Ralph, Farshim, Pamela, Bates, Gill P, Holmans, Peter https://orca.cardiff.ac.uk/view/cardiffauthors/A0466487.htmlTest orcid:0000-0003-0870-9412 orcid:0000-0003-0870-9412, Jones, Lesley orcid:0000-0002-3007-4612 orcid:0000-0002-3007-4612 and Tabrizi, Sarah J 2019. FAN1 modifies Huntington's disease progression by stabilising the expanded HTT CAG repeat. Human Molecular Genetics 28 (4) , pp. 650-661. 10.1093/hmg/ddy375 https://doi.org/10.1093/hmg%2Fddy375Test file https://orca.cardiff.ac.uk/id/eprint/116223/7/ddy375.pdfTest
الإتاحة: https://doi.org/10.1093/hmg/ddy375Test
https://orca.cardiff.ac.uk/id/eprint/116223Test/
https://orca.cardiff.ac.uk/id/eprint/116223/7/ddy375.pdfTest -
5مؤتمر
المصدر: C: Genetic modifiers
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6مؤتمر
المؤلفون: Goold, Robert, Hamilton, Joseph, Menneteau, Thomas, Flower, Michael, Bunting, Emma, Aldous, Sarah, Porro, Antonio, Vicente, José, Allen, Nicholas, Wilkinson, Hilary, Bates, Gillian, Sartori, Alessandro, Thalassinos, Konstantinos, Balmus, Gabriel, Tabrizi, Sarah
المصدر: C: Genetic modifiers
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7دورية أكاديمية
المؤلفون: Goold, Robert, Flower, Michael, Moss, Davina Hensman, Medway, Chris, Wood-Kaczmar, Alison, Andre, Ralph, Farshim, Pamela, Bates, Gill P, Holmans, Peter, Jones, Lesley, Tabrizi, Sarah J
المساهمون: UK Dementia Research Institute, Medical Research Council, CHDI
المصدر: Human Molecular Genetics ; volume 28, issue 4, page 650-661 ; ISSN 0964-6906 1460-2083
الإتاحة: https://doi.org/10.1093/hmg/ddy375Test
http://academic.oup.com/hmg/article-pdf/28/4/650/27636613/ddy375.pdfTest -
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9مؤتمر
المؤلفون: Goold, Robert, Hamilton, Joseph, Menneteau, Thomas, Flower, Michael, Bunting, Emma, Aldous, Sarah, Porro, Antonio, Vicente, José, Allen, Nicholas, Wilkinson, Hilary, Bates, Gillian, Sartori, Alessandro, Thalassinos, Konstantinos, Balmus, Gabriel, Tabrizi, Sarah
المصدر: C: Genetic modifiers
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10دورية أكاديمية
المؤلفون: Scales, Timothy M. E., Lin, Shen, Kraus, Michaela, Goold, Robert G., Gordon-Weeks, Phillip R.
مصطلحات موضوعية: Research Article
وصف الملف: text/html
العلاقة: http://jcs.biologists.org/cgi/content/short/122/14/2424Test; http://dx.doi.org/10.1242/jcs.040162Test
الإتاحة: https://doi.org/10.1242/jcs.040162Test
http://jcs.biologists.org/cgi/content/short/122/14/2424Test