المؤلفون: YU Jia‑xi, YU Meng, ZHANG Wei, YUAN Yun, DENG Jian‑wen, WANG Zhao‑xia

المصدر: Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 23, Iss 9, Pp 798-806 (2023)

مصطلحات موضوعية: neuromuscular diseases, trinucleotide repeat expansion, pathology, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://cjcnn.org/index.php/cjcnn/article/view/2751Test; https://doaj.org/toc/1672-6731Test

الوصول الحر: https://doaj.org/article/46b3023a23c342ae83ab5ac41b2f8414Test

المؤلفون: WAN Ya⁃lan, JIANG Yan⁃yan, ZHOU Hong, ZHENG Yi⁃ming, LÜ He, ZHAO Gui⁃ping, CHEN Jing, SUN Wei, WANG Zhao⁃xia

المصدر: Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 22, Iss 08, Pp 723-728 (2022)

مصطلحات موضوعية: spinocerebellar ataxias, parkinsonian disorders, genes, mutation, trinucleotide repeat expansion, pedigree, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.cjcnn.org/index.php/cjcnn/article/view/2553Test; https://doaj.org/toc/1672-6731Test

الوصول الحر: https://doaj.org/article/5c00a761ef944cd599f7e559e89af00dTest

المؤلفون: Yan-xin LI, Li SONG, Zhan-yun LÜ, Quan-quan WANG, Yan-lei HAO

المصدر: Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 19, Iss 3, Pp 216-220 (2019)

مصطلحات موضوعية: Spinocerebellar ataxias, Trinucleotide repeat expansion, Pedigree, Case reports, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.cjcnn.org/index.php/cjcnn/article/view/1931Test; https://doaj.org/toc/1672-6731Test

الوصول الحر: https://doaj.org/article/7e0aee10de0749cb8d6855eb850207c1Test

المؤلفون: Jing LI, Cheng ZHANG, Yi⁃xin ZHANG, Shan⁃wei FENG, Juan YANG, Ji⁃qing CAO, Chang⁃shun YU, Ya⁃qin LI, Yan⁃yun WANG, Fei CHEN, Jie KONG, Min⁃ying ZHENG, Ling LIAO

المصدر: Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 12, Iss 3, Pp 282-287 (2012)

مصطلحات موضوعية: Spinocerebellar ataxias, Trinucleotide repeat expansion, Genetic counseling consultation, Prenatal diagnosis, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.cjcnn.org/index.php/cjcnn/article/view/334Test; https://doaj.org/toc/1672-6731Test

الوصول الحر: https://doaj.org/article/8976d63864d64f41bb273f938c0e28a5Test

المؤلفون: 陳思妤, Chen, Szu-Yu

المساهمون: 李以仁, Lee, I-Ren

مصطلحات موضوعية: 單分子螢光共振能量轉移, 單股 DNA 結合蛋白, 人類複製蛋白 A, 三核苷酸重複序列擴增, CTG 重複序列, single-molecule fluorescence resonance energy transfer (smFRET), single-stranded DNA binding protein(SSB), human Replication Protein A (hRPA), Trinucleotide Repeat (TNR) expansions, CTG repeat sequence

العلاقة: 60842085S-40072; https://etds.lib.ntnu.edu.tw/thesis/detail/aeb6169f6fce1f065a80b6b8de16de63Test/; http://rportal.lib.ntnu.edu.tw/handle/20.500.12235/117265Test

الإتاحة: https://doi.org/20.500.12235/117265Test
http://rportal.lib.ntnu.edu.tw/handle/20.500.12235/117265Test
https://hdl.handle.net/20.500.12235/117265Test
https://etds.lib.ntnu.edu.tw/thesis/detail/aeb6169f6fce1f065a80b6b8de16de63Test/

المؤلفون: 曹东华, 任梅宏, 刘晓莉, 金春莲, 孟昭义, 邱广斌

المساهمون: 110003,沈阳,中国人民解放军第二0二医院检验科, 中国医科大学基础医学院医学遗传学教研室, 北京大学人民医院产前诊断中心, 中国人民解放军第二0二医院神经内科,沈阳,110003, 中国人民解放军第二0二医院检验科,沈阳,110003

المصدر: 万方 ; http://d.g.wanfangdata.com.cn/Periodical_zhyxycx201003018.aspxTest

مصطلحات موضوعية: 脊髓小脑性共济失调, 三核苷酸重复, 基因诊断, 产前诊断, spinocerebellar ataxia, trinucleotide repeat, gene diagnosis, prenatal diagnosis

العلاقة: 中华医学遗传学杂志.2010,27,(3),320-323.; 1258063; http://hdl.handle.net/20.500.11897/288534Test

الإتاحة: https://doi.org/20.500.11897/288534Test
https://doi.org/10.3760/cma.j.issn.1003-9406.2010.03.018Test
https://hdl.handle.net/20.500.11897/288534Test

المؤلفون: 鄭凱駿, Cheng, Kai-Chun

المساهمون: 李以仁, Lee, I-Ren

مصطلحات موضوعية: 單分子螢光共振能量轉移, 圓二色性光譜, 基因擴張, CGG三核苷酸重複序列, X染色體脆折症, 結構動態學, DNA 髮夾型結構, smFRET, CD spectroscopy, Gene expansion, CGG trinucleotide repeat, Fragile X chromosome, Structural dynamics, DNA hairpin

وصف الملف: application/pdf

العلاقة: G060742085S; http://etds.lib.ntnu.edu.tw/cgi-bin/gs32/gsweb.cgi?o=dstdcdr&s=id=%22G060742085S%22Test.&; http://rportal.lib.ntnu.edu.tw:80/handle/20.500.12235/111179Test

الإتاحة: https://doi.org/20.500.12235/111179Test
http://rportal.lib.ntnu.edu.tw:80/handle/20.500.12235/111179Test
https://hdl.handle.net/20.500.12235/111179Test
http://etds.lib.ntnu.edu.tw/cgi-bin/gs32/gsweb.cgi?o=dstdcdr&s=id=%22G060742085S%22Test.&

المؤلفون: 王鴻仁, Wang, Hong-Ren

المساهمون: 李以仁, Lee, I-Ren

مصطلحات موضوعية: 單分子螢光共振能量轉移, CAG 重複序列, DNA 髮夾結構, 三核苷酸重複序列擴張疾病, Single-molecule fluorescence resonance energy transfer (smFRET)Single-molecule fluorescence resonance energy transfer (smFRET), CAG tandem repeats, DNA hairpin structures, trinucleotide repeat expansion diseases

وصف الملف: application/pdf

العلاقة: G060742029S; http://etds.lib.ntnu.edu.tw/cgi-bin/gs32/gsweb.cgi?o=dstdcdr&s=id=%22G060742029S%22Test.&; http://rportal.lib.ntnu.edu.tw:80/handle/20.500.12235/111138Test

الإتاحة: https://doi.org/20.500.12235/111138Test
http://rportal.lib.ntnu.edu.tw:80/handle/20.500.12235/111138Test
https://hdl.handle.net/20.500.12235/111138Test
http://etds.lib.ntnu.edu.tw/cgi-bin/gs32/gsweb.cgi?o=dstdcdr&s=id=%22G060742029S%22Test.&

المؤلفون: 王政光, Cheng-Kuang Wang

المساهمون: 李桂楨, Guey-Jen Lee-Chen

مصطلحات موضوعية: 帕金森氏症, 基因多型性, 熱休克蛋白, 單套型, 杭丁頓氏症, CAG三核苷重複序列, Parkinson's disease, polymorphism, alpha-synuclein, parkin, heat-shock protein 70, NACP-Rep1, haplotype analysis, polyglutamine disease, Huntington's disease, CAG trinucleotide repeat

وصف الملف: application/pdf

العلاقة: G0089043001; http://etds.lib.ntnu.edu.tw/cgi-bin/gs32/gsweb.cgi?o=dstdcdr&s=id=%22G0089043001%22.&%22.idTest.&; http://rportal.lib.ntnu.edu.tw:80/handle/20.500.12235/103830Test

الإتاحة: https://doi.org/20.500.12235/103830Test
http://rportal.lib.ntnu.edu.tw:80/handle/20.500.12235/103830Test
https://hdl.handle.net/20.500.12235/103830Test
http://etds.lib.ntnu.edu.tw/cgi-bin/gs32/gsweb.cgi?o=dstdcdr&s=id=%22G0089043001%22.&%22.idTest.&