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1دورية أكاديمية
المؤلفون: Shaoping Zhong, Jianying Liu, Yangye Lian, Binbin Zhou, Xin Wang, Jing Ding
المصدر: BMC Neurology, Vol 24, Iss 1, Pp 1-6 (2024)
مصطلحات موضوعية: Fragile X-associated tremor/ataxia syndrome, Encephalitis-like episode, Neuronal intranuclear inclusion disease, Biopsy, Trinucleotide repeat expansion, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2377Test
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2دورية أكاديمية
المؤلفون: Giovanna Pinto Pires, Vinicius Sartori Fioresi, Drielli Canal, Dener Cezati Canal, Miquéias Fernandes, Otávio José Bernardes Brustolini, Paola de Avelar Carpinetti, Adésio Ferreira, Marcia Flores da Silva Ferreira
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
مصطلحات موضوعية: Trinucleotide repeat expansions, Gene expression, Guava cultivars, SSR, Plant breeding, Genetic diversity, Medicine, Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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3دورية أكاديمية
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
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4دورية أكاديمية
المؤلفون: Kuo-Hsuan Chang, Chiung-Mei Chen
المصدر: Antioxidants, Vol 13, Iss 6, p 649 (2024)
مصطلحات موضوعية: trinucleotide repeat expansion disorders, neurodegeneration, oxidative stress, NRF2, anti-oxidative therapy, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Watchon, Maxinne, Wright, Amanda L., Ahel, Holly I., Robinson, Katherine J., Plenderleith, Stuart K., Kuriakose, Andrea, Yuan, Kristy C., Laird, Angela S.
المصدر: Watchon , M , Wright , A L , Ahel , H I , Robinson , K J , Plenderleith , S K , Kuriakose , A , Yuan , K C & Laird , A S 2024 , ' Spermidine treatment : induction of autophagy but also apoptosis? ' , Molecular Brain , vol. 17 , no. 1 , 15 , pp. 1-15 . https://doi.org/10.1186/s13041-024-01085-7Test
مصطلحات موضوعية: Autophagy, Machado-Joseph disease, Neurodegeneration, PolyQ, Spinocerebellar ataxia type 3, Trinucleotide repeat disease, Zebrafish
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/s13041-024-01085-7Test
https://researchers.mq.edu.au/en/publications/179fcae9-fcb5-4a5e-bb88-9dfa564baf57Test
https://research-management.mq.edu.au/ws/files/331823958/Publisher_version_open_access_.pdfTest
http://www.scopus.com/inward/record.url?scp=85186942548&partnerID=8YFLogxKTest -
6دورية أكاديمية
المؤلفون: Watchon, Maxinne, Robinson, Katherine J., Luu, Luan, An, Yousun, Yuan, Kristy C., Plenderleith, Stuart K., Cheng, Flora, Don, Emily K., Nicholson, Garth A., Lee, Albert, Laird, Angela S.
المصدر: Watchon , M , Robinson , K J , Luu , L , An , Y , Yuan , K C , Plenderleith , S K , Cheng , F , Don , E K , Nicholson , G A , Lee , A & Laird , A S 2024 , ' Treatment with sodium butyrate induces autophagy resulting in therapeutic benefits for spinocerebellar ataxia type 3 ' , FASEB Journal , vol. 38 , no. 2 , e23429 , pp. 1-19 . https://doi.org/10.1096/fj.202300963RRTest
مصطلحات موضوعية: autophagy, Machado-Joseph disease, neurodegeneration, polyQ, sodium butyrate, spinocerebellar ataxia type 3, trinucleotide repeat disease, zebrafish
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1096/fj.202300963RRTest
https://researchers.mq.edu.au/en/publications/f28e208c-f32f-400c-a3a6-896aa5311b18Test
https://research-management.mq.edu.au/ws/files/318305716/Publisher_version_open_access_.pdfTest
https://purl.org/au-research/grants/nhmrc/1069235Test
http://www.scopus.com/inward/record.url?scp=85182862265&partnerID=8YFLogxKTest -
7
المؤلفون: Viberg, Andreas, 1984, Westin, Ida Maria, Golovleva, Irina, Byström, Berit
المصدر: Acta Ophthalmologica. 100(5):541-548
مصطلحات موضوعية: cornea, Fuchs’ endothelial corneal dystrophy, genetic aetiology, TCF4, trinucleotide repeat disorders, oftalmiatrik, ophthalmology, medicinsk genetik, Medical Genetics
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-187710Test
https://doi.org/10.1111/aos.15032Test
https://umu.diva-portal.org/smash/get/diva2:1595384/FULLTEXT02.pdfTest -
8دورية أكاديمية
المؤلفون: Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Zohor A. Azher, Alaa H. Falemban, Wefaq M. Madani, Wafaa Alosaimi, Ghydda Alghamdi, Ikhlas A. Sindi
المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)
مصطلحات موضوعية: Fragile X syndrome (FXS), Clinical features, Variable expressivity, FMR1 gene, CGG trinucleotide repeat, DNA methylation, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1479-7364Test
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9
المؤلفون: Westin, Ida Maria, Landfors, Mattias, 1977, Giannopoulos, Antonios, Viberg, Andreas, Osterman, Pia, Byström, Berit, Degerman, Sofie, 1977, Golovleva, Irina
المصدر: Cellular and Molecular Life Sciences (CMLS). 80(3)
مصطلحات موضوعية: Coagulation factors, DNA methylation, Factor V, Fuchs dystrophy, Thrombomodulin, Transcription factor 4 (TCF4), Trinucleotide repeat disorder, medicinsk genetik, Medical Genetics
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-200178Test
https://doi.org/10.21203/rs.3.rs-1758860/v1Test
https://umu.diva-portal.org/smash/get/diva2:1702947/FULLTEXT01.pdfTest -
10دورية أكاديمية
المؤلفون: Audrius Kilikevicius, Jun Wang, Xiulong Shen, Frank Rigo, Thahza P. Prakash, Marek Napierala, David R. Corey
المصدر: RNA Biology, Vol 19, Iss 1, Pp 364-372 (2022)
مصطلحات موضوعية: friedrich’s ataxia, frataxin, antisense oligonucleotide, trinucleotide repeat, Genetics, QH426-470
وصف الملف: electronic resource