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1دورية أكاديمية
المؤلفون: Xinzhuang Yang, Dingding Zhang, Si Shen, Pidong Li, Mengjie Li, Jingwen Niu, Dongrui Ma, Dan Xu, Shuangjie Li, Xueyu Guo, Zhen Wang, Yanhuan Zhao, Haitao Ren, Chao Ling, Yang Wang, Yu Fan, Jianxiong Shen, Yicheng Zhu, Depeng Wang, Liying Cui, Lin Chen, Changhe Shi, Yi Dai
المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: CGG repeat expansion, Long-read whole-genome sequencing, Neurodegenerative disease, Oculopharyngodistal myopathy, RILPL1, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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2دورية أكاديمية
المؤلفون: Hui Wang, Yilei Zheng, Jiaxi Yu, Lingchao Meng, Wei Zhang, Daojun Hong, Zhaoxia Wang, Yun Yuan, Jianwen Deng
المصدر: Neurobiology of Disease, Vol 190, Iss , Pp 106391- (2024)
مصطلحات موضوعية: NOTCH2NLC, CGG repeat expansion, polyG, Intranuclear inclusions, Stress granules, FUS, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996123004072Test; https://doaj.org/toc/1095-953XTest
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3دورية أكاديمية
المؤلفون: Chunlei Jin, Xiangdong Zhang, Qiang Lei, Penglong Chen, Hui Hu, Shuangshuang Shen, Jiao Liu, Shixuanbao Ye
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: FMR1, WES, FMRP, fragile X syndrome, CGG repeat expansion, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1228682/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: Loesch, Danuta Z, Tassone, Flora, Atkinson, Anna, Stimpson, Paige, Trost, Nicholas, Pountney, Dean L, Storey, Elsdon
مصطلحات موضوعية: Medical Biochemistry and Metabolomics, Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Mental Health, Genetics, Pediatric, Rare Diseases, Fragile X Syndrome, Clinical Research, Behavioral and Social Science, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, Neurodegenerative, Mental health, Neurological, FMR1 premutation, CGG repeat, female carriers, motor scores, progression rates, gender differences, Biochemistry and cell biology, Medical biochemistry and metabolomics
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/75z732v2Test
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5دورية أكاديمية
المؤلفون: Masashi Ogasawara, Nobuyuki Eura, Aritoshi Iida, Theerawat Kumutpongpanich, Narihiro Minami, Ikuya Nonaka, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino
المصدر: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-7 (2022)
مصطلحات موضوعية: Oculopharyngodistal myopathy, LRP12, GIPC1, NOTCH2NLC, CGG repeat expansion, Oculopharyngeal muscular dystrophy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2051-5960Test
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6دورية أكاديمية
المؤلفون: Juan Chen, Yuwen Zhao, Xun Zhou, Jin Xue, Qiao Xiao, Hongxu Pan, Xiaoxia Zhou, Yaqin Xiang, Jian Li, Liping Zhu, Zhou Zhou, Yang Yang, Qian Xu, Qiying Sun, Xinxiang Yan, Jieqiong Tan, Jinchen Li, Jifeng Guo, Ranhui Duan, Beisha Tang, Qiao Yu, Zhenhua Liu
المصدر: Frontiers in Aging Neuroscience, Vol 15 (2023)
مصطلحات موضوعية: FMR1 gene, CGG repeat, Parkinson’s disease, premutation, gray zone, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fnagi.2023.1234027/fullTest; https://doaj.org/toc/1663-4365Test
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7دورية أكاديمية
المؤلفون: Matelski, Lauren, Stietz, Kimberly P Keil, Sethi, Sunjay, Taylor, Sandra L, Van de Water, Judy, Lein, Pamela J
مصطلحات موضوعية: Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Neurosciences, Pediatric, Intellectual and Developmental Disabilities (IDD), Endocrine Disruptors, Brain Disorders, Genetics, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, CGG repeat expansion mutation, Chemokines, fmr1, Neurodevelopmental disorders, Neuroimmune interactions, Ryanodine receptor, Biochemistry and cell biology, Pharmacology and pharmaceutical sciences
وصف الملف: application/pdf
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8دورية أكاديمية
المؤلفون: Ma, Lisa, Herren, Anthony W, Espinal, Glenda, Randol, Jamie, McLaughlin, Bridget, Martinez-Cerdeño, Veronica, Pessah, Isaac N, Hagerman, Randi J, Hagerman, Paul J
المصدر: Acta Neuropathologica Communications. 7(1)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Genetics, Rare Diseases, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Fragile X Syndrome, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amino Acid Sequence, Ataxia, Female, Flow Cytometry, Frontal Lobe, Humans, Intranuclear Inclusion Bodies, Male, Proteomics, Tremor, Fragile X, neurodegeneration, proteomics, CGG repeat, proteasome, inclusion, FXTAS, FMRpolyG, SUMO, ubiquitin, Clinical Sciences, Neurosciences, Biochemistry and cell biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1z08r4ddTest
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9دورية أكاديمية
المؤلفون: Zhao, Xiaonan, Gazy, Inbal, Hayward, Bruce, Pintado, Elizabeth, Hwang, Ye Hyun, Tassone, Flora, Usdin, Karen
المصدر: Brain sciences. 9(3)
مصطلحات موضوعية: CGG Repeat Expansion Disease, DNA instability, Non-homologous end-joining, base excision repair, contraction, double-strand break repair, expansion, mismatch repair, mosaicism, transcription coupled repair, Neurosciences, Psychology, Cognitive Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8548t8kfTest
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10دورية أكاديمية
المؤلفون: Tabolacci E, Nobile V, Pucci C, Chiurazzi P
المساهمون: Tabolacci, Elisabetta, Nobile, Veronica, Pucci, Cecilia, Chiurazzi, Pietro
مصطلحات موضوعية: CGG repeat, FMR1 gene, dynamic mutation, mechanisms of instability, molecular medicine, neurological disease, repeat expansion disorders, Settore MED/03 - GENETICA MEDICA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35628235; info:eu-repo/semantics/altIdentifier/wos/WOS:000802458300001; volume:23; issue:10; firstpage:5425; lastpage:5441; numberofpages:17; issueyear:2022; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/10807/224688Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85129885371