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For: Deng J, Yu J, Li P, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z. Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy. Am J Hum Genet 2020;106:793-804. [PMID: 32413282 DOI: 10.1016/j.ajhg.2020.04.011] [Cited by in Crossref: 45] [Cited by in F6Publishing: 32] [Article Influence: 22.5] [Reference Citation Analysis]
Number Citing Articles
1 Liu Q, Zhang K, Kang Y, Li Y, Deng P, Li Y, Tian Y, Sun Q, Tang Y, Xu K, Zhou Y, Wang J, Guo J, Li J, Xia K, Meng Q, Allen EG, Wen Z, Li Z, Jiang H, Shen L, Duan R, Yao B, Tang B, Jin P, Pan Y. Expression of expanded GGC repeats within NOTCH2NLC causes behavioral deficits and neurodegeneration in a mouse model of neuronal intranuclear inclusion disease. Sci Adv 2022;8. [DOI: 10.1126/sciadv.add6391] [Reference Citation Analysis]
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5 Eura N, Iida A, Ogasawara M, Hayashi S, Noguchi S, Nishino I. RILPL1-related OPDM is absent in a Japanese cohort. The American Journal of Human Genetics 2022;109:2088-2089. [DOI: 10.1016/j.ajhg.2022.10.005] [Reference Citation Analysis]
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7 Yu J, Liufu T, Zheng Y, Xu J, Meng L, Zhang W, Yuan Y, Hong D, Charlet-Berguerand N, Wang Z, Deng J. CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model. Proc Natl Acad Sci U S A 2022;119:e2208649119. [PMID: 36191230 DOI: 10.1073/pnas.2208649119] [Reference Citation Analysis]
8 Zhou B, Zheng Y, Li X, Dong H, Yu J, Zou Y, Zhu M, Yu Y, Fang X, Zhou M, Zhang W, Yuan Y, Wang Z, Deng J, Hong D. FUS Mutation Causes Disordered Lipid Metabolism in Skeletal Muscle Associated with ALS. Mol Neurobiol 2022. [PMID: 36169888 DOI: 10.1007/s12035-022-03048-2] [Reference Citation Analysis]
9 Kurosaki T, Ashizawa T. The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10. Front Genet 2022;13:936869. [DOI: 10.3389/fgene.2022.936869] [Reference Citation Analysis]
10 Zhou X, Huang HY, He RC, Zeng S, Liu ZH, Xu Q, Guo JF, Yan XX, Duan RH, Tang BS, Xu YM, Sun QY. Analysis of GIPC1 CGG repeat expansions in essential tremor. Parkinsonism Relat Disord 2022;103:119-21. [PMID: 36108428 DOI: 10.1016/j.parkreldis.2022.08.015] [Reference Citation Analysis]
11 Wu W, Yu J, Qian X, Wang X, Xu Y, Wang Z, Deng J. Intermediate-length CGG repeat expansion in NOTCH2NLC is associated with pathologically confirmed Alzheimer's disease. Neurobiology of Aging 2022. [DOI: 10.1016/j.neurobiolaging.2022.09.005] [Reference Citation Analysis]
12 Yousuf A, Ahmed N, Qurashi A. Non-canonical DNA/RNA structures associated with the pathogenesis of Fragile X-associated tremor/ataxia syndrome and Fragile X syndrome. Front Genet 2022;13:866021. [DOI: 10.3389/fgene.2022.866021] [Reference Citation Analysis]
13 Jiao K, Yue D, Gu X, Cheng N, Chang X, Zhong H, Huan X, Su M, Zhou Y, Luo S, Zhao C, Xi J, Zhu W. Human-induced pluripotent stem cell line (FDHSi001-A) derived from a patient with a CGG repeat expansion in the 5'UTR of GIPC1. Stem Cell Res 2022;64:102897. [PMID: 36055118 DOI: 10.1016/j.scr.2022.102897] [Reference Citation Analysis]
14 Yu J, Deng J, Wang Z. Oculopharyngodistal myopathy. Curr Opin Neurol 2022. [PMID: 35942670 DOI: 10.1097/WCO.0000000000001089] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
15 Richard P, Stojkovic T, Metay C, Lacau St Guily J, Trollet C. Distrofia muscolare oculofaringea. EMC - Neurologia 2022;22:1-14. [DOI: 10.1016/s1634-7072(22)46725-0] [Reference Citation Analysis]
16 Wright SE, Rodriguez CM, Monroe J, Xing J, Krans A, Flores BN, Barsur V, Ivanova MI, Koutmou KS, Barmada SJ, Todd PK. CGG repeats trigger translational frameshifts that generate aggregation-prone chimeric proteins. Nucleic Acids Res 2022:gkac626. [PMID: 35904811 DOI: 10.1093/nar/gkac626] [Reference Citation Analysis]
17 Koczwara KE, Lake NJ, DeSimone AM, Lek M. Neuromuscular disorders: finding the missing genetic diagnoses. Trends Genet 2022:S0168-9525(22)00178-0. [PMID: 35908999 DOI: 10.1016/j.tig.2022.07.001] [Reference Citation Analysis]
18 Ji G, Zhao Y, Zhang J, Dong H, Wu H, Chen X, Qi X, Tian Y, Shen L, Yang G, Song X. NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case report. BMC Neurol 2022;22:243. [PMID: 35788208 DOI: 10.1186/s12883-022-02766-3] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
19 Boivin M, Deng J, Wang Z, Charlet-berguerand N. Les myopathies oculo-pharyngo-distales : des nouvelles maladies à expansions de répétitions CGG. Cah Myol 2022. [DOI: 10.1051/myolog/202225006] [Reference Citation Analysis]
20 An R, Chen H, Gu W, Xu Y, He C. Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China. Neurol Sci 2022;43:3989-3993. [DOI: 10.1007/s10072-022-06005-y] [Reference Citation Analysis]
21 Liufu T, Zheng Y, Yu J, Yuan Y, Wang Z, Deng J, Hong D. The polyG diseases: a new disease entity. Acta Neuropathol Commun 2022;10:79. [PMID: 35642014 DOI: 10.1186/s40478-022-01383-y] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 5.0] [Reference Citation Analysis]
22 Pan Y, Xue J, Chen J, Zhang X, Tu T, Xiao Q, Huang W, Liu Q, Zhu L, Li J, Zhou X, Xu Q, Sun Q, Tan J, Yan X, Li J, Guo J, Tang B, Duan R, Liu Z. Assessment of GGC Repeat Expansion in GIPC1 in Patients with Parkinson's Disease. Mov Disord 2022. [PMID: 35521937 DOI: 10.1002/mds.29041] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
23 Liu Z, Zhao G, Xiao Y, Zeng S, Yuan Y, Zhou X, Fang Z, He R, Li B, Zhao Y, Pan H, Wang Y, Yu G, Peng I, Wang D, Meng Q, Xu Q, Sun Q, Yan X, Shen L, Jiang H, Xia K, Wang J, Guo J, Liang F, Li J, Tang B. Profiling the Genome-Wide Landscape of Short Tandem Repeats by Long-Read Sequencing. Front Genet 2022;13:810595. [DOI: 10.3389/fgene.2022.810595] [Reference Citation Analysis]
24 Ogasawara M, Eura N, Iida A, Kumutpongpanich T, Minami N, Nonaka I, Hayashi S, Noguchi S, Nishino I. Intra-myonuclear inclusions are diagnostic of oculopharyngeal muscular dystrophy.. [DOI: 10.1101/2022.04.25.22274179] [Reference Citation Analysis]
25 Marsili L, Duque KR, Bode RL, Kauffman MA, Espay AJ. Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing. Front Neurol 2022;13:821189. [DOI: 10.3389/fneur.2022.821189] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
26 Yu J, Shan J, Yu M, Di L, Xie Z, Zhang W, Lv H, Meng L, Zheng Y, Zhao Y, Gang Q, Guo X, Wang Y, Xi J, Zhu W, Da Y, Hong D, Yuan Y, Yan C, Wang Z, Deng J. The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4. Am J Hum Genet 2022;109:533-41. [PMID: 35148830 DOI: 10.1016/j.ajhg.2022.01.012] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 13.0] [Reference Citation Analysis]
27 Boivin M, Charlet-berguerand N. Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins? Front Genet 2022;13:843014. [DOI: 10.3389/fgene.2022.843014] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
28 Yu M, Zhao X, Wu W, Wang Q, Liu J, Zhang W, Yuan Y, Hong D, Wang Z, Deng J. Widespread Mislocalization of FUS Is Associated With Mitochondrial Abnormalities in Skeletal Muscle in Amyotrophic Lateral Sclerosis With FUS Mutations. J Neuropathol Exp Neurol 2022:nlac004. [PMID: 35139534 DOI: 10.1093/jnen/nlac004] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
29 Schröder C, Horsthemke B, Depienne C. GC-rich repeat expansions: associated disorders and mechanisms. Medizinische Genetik 2022;33:325-35. [DOI: 10.1515/medgen-2021-2099] [Reference Citation Analysis]
30 Zhou ZD, Jankovic J, Ashizawa T, Tan EK. Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions. Nat Rev Neurol 2022. [PMID: 35022573 DOI: 10.1038/s41582-021-00612-7] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 5.0] [Reference Citation Analysis]
31 Bennett MF, Tucci A, Bahlo M. Detecting Tandem Repeat Expansions Using Short-Read Sequencing for Clinical Use. Neuromethods 2022. [DOI: 10.1007/978-1-0716-2357-2_2] [Reference Citation Analysis]
32 Ogasawara M, Eura N, Nagaoka U, Sato T, Arahata H, Hayashi T, Okamoto T, Takahashi Y, Mori‐yoshimura M, Oya Y, Nakamura A, Shimazaki R, Sano T, Kumutpongpanich T, Minami N, Hayashi S, Noguchi S, Iida A, Takao M, Nishino I. Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy. Neuropathology Appl Neurobio. [DOI: 10.1111/nan.12787] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
33 Zhong S, Lian Y, Luo W, Luo R, Wu X, Ji J, Ji Y, Ding J, Wang X. Upstream open reading frame with NOTCH2NLC GGC expansion generates polyglycine aggregates and disrupts nucleocytoplasmic transport: implications for polyglycine diseases. Acta Neuropathol 2021;142:1003-23. [PMID: 34694469 DOI: 10.1007/s00401-021-02375-3] [Cited by in Crossref: 12] [Cited by in F6Publishing: 15] [Article Influence: 12.0] [Reference Citation Analysis]
34 Fan Y, Xu Y, Shi C. NOTCH2NLC-related disorders: the widening spectrum and genotype-phenotype correlation. J Med Genet 2022;59:1-9. [PMID: 34675123 DOI: 10.1136/jmedgenet-2021-107883] [Cited by in Crossref: 4] [Cited by in F6Publishing: 6] [Article Influence: 4.0] [Reference Citation Analysis]
35 Yang X, Zhang D, Li P, Niu J, Xu D, Guo X, Wang Z, Zhao Y, Ren H, Ling C, Wang Y, Shen J, Zhu Y, Wang D, Cui L, Chen L, Dai Y. Expansion of 5’ UTR CGG repeat in RILPL1 is associated with oculopharyngodistal myopathy.. [DOI: 10.1101/2021.09.18.21263669] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
36 Su Y, Fan L, Shi C, Wang T, Zheng H, Luo H, Zhang S, Hu Z, Fan Y, Dong Y, Yang J, Mao C, Xu Y. Deciphering Neurodegenerative Diseases Using Long-Read Sequencing. Neurology 2021:10. [PMID: 34389649 DOI: 10.1212/WNL.0000000000012466] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
37 Konieczny P, Mukherjee S, Stepniak-Konieczna E, Taylor K, Niewiadomska D, Piasecka A, Walczak A, Baud A, Dohno C, Nakatani K, Sobczak K. Cyclic mismatch binding ligands interact with disease-associated CGG trinucleotide repeats in RNA and suppress their translation. Nucleic Acids Res 2021:gkab669. [PMID: 34358321 DOI: 10.1093/nar/gkab669] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
38 Wang H, Yu J, Yu M, Deng J, Zhang W, Lv H, Liu J, Shi X, Liang W, Jia Z, Hong D, Meng L, Wang Z, Yuan Y. GGC Repeat Expansion in the NOTCH2NLC Gene Is Associated With a Phenotype of Predominant Motor-Sensory and Autonomic Neuropathy. Front Genet 2021;12:694790. [PMID: 34306035 DOI: 10.3389/fgene.2021.694790] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 5.0] [Reference Citation Analysis]
39 Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, Hayashi S, Noguchi S, Iida A, Nishino I, Mori-Yoshimura M, Oya Y, Ono K, Shimizu T, Kawata A, Shimohama S, Toyooka K, Endo K, Toru S, Sasaki O, Isahaya K, Takahashi MP, Iwasa K, Kira JI, Yamamoto T, Kawamoto M, Hamano T, Sugie K, Eura N, Shiota T, Koide M, Sekiya K, Kishi H, Hideyama T, Kawai S, Yanagimoto S, Sato H, Arahata H, Murayama S, Saito K, Hara H, Kanda T, Yaguchi H, Imai N, Kawagashira Y, Sanada M, Obara K, Kaido M, Furuta M, Kurashige T, Hara W, Kuzume D, Yamamoto M, Tsugawa J, Kishida H, Ishizuka N, Morimoto K, Tsuji Y, Tsuneyama A, Matsuno A, Sasaki R, Tamakoshi D, Abe E, Yamada S, Uzawa A; OPDM_LRP12 Study Group. Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes. JAMA Neurol 2021;78:853-63. [PMID: 34047774 DOI: 10.1001/jamaneurol.2021.1509] [Cited by in Crossref: 14] [Cited by in F6Publishing: 16] [Article Influence: 14.0] [Reference Citation Analysis]
40 Nicolau S, Milone M, Liewluck T. Guidelines for genetic testing of muscle and neuromuscular junction disorders. Muscle Nerve 2021;64:255-69. [PMID: 34133031 DOI: 10.1002/mus.27337] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
41 Depienne C, Mandel JL. 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges? Am J Hum Genet 2021;108:764-85. [PMID: 33811808 DOI: 10.1016/j.ajhg.2021.03.011] [Cited by in Crossref: 57] [Cited by in F6Publishing: 31] [Article Influence: 57.0] [Reference Citation Analysis]
42 Yu J, Luan XH, Yu M, Zhang W, Lv H, Cao L, Meng L, Zhu M, Zhou B, Wu XR, Li P, Gang Q, Liu J, Shi X, Liang W, Jia Z, Yao S, Yuan Y, Deng J, Hong D, Wang Z. GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy. Ann Clin Transl Neurol 2021;8:1330-42. [PMID: 33943039 DOI: 10.1002/acn3.51371] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 11.0] [Reference Citation Analysis]
43 Boivin M, Deng J, Pfister V, Grandgirard E, Oulad-Abdelghani M, Morlet B, Ruffenach F, Negroni L, Koebel P, Jacob H, Riet F, Dijkstra AA, McFadden K, Clayton WA, Hong D, Miyahara H, Iwasaki Y, Sone J, Wang Z, Charlet-Berguerand N. Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases. Neuron 2021;109:1825-1835.e5. [PMID: 33887199 DOI: 10.1016/j.neuron.2021.03.038] [Cited by in Crossref: 32] [Cited by in F6Publishing: 22] [Article Influence: 32.0] [Reference Citation Analysis]
44 Xi J, Wang X, Yue D, Dou T, Wu Q, Lu J, Liu Y, Yu W, Qiao K, Lin J, Luo S, Li J, Du A, Dong J, Chen Y, Luo L, Yang J, Niu Z, Liang Z, Zhao C, Lu J, Zhu W, Zhou Y. 5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy. Brain 2021;144:601-14. [PMID: 33374016 DOI: 10.1093/brain/awaa426] [Cited by in Crossref: 29] [Cited by in F6Publishing: 33] [Article Influence: 29.0] [Reference Citation Analysis]
45 Yu J, Deng J, Guo X, Shan J, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Zhou B, Li P, Liu Y, Wang Y, Yan C, Hong D, Yuan Y, Wang Z. The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3. Brain 2021;144:1819-32. [PMID: 33693509 DOI: 10.1093/brain/awab077] [Cited by in Crossref: 37] [Cited by in F6Publishing: 42] [Article Influence: 37.0] [Reference Citation Analysis]
46 Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B. Panorama of the distal myopathies. Acta Myol 2020;39:245-65. [PMID: 33458580 DOI: 10.36185/2532-1900-028] [Cited by in F6Publishing: 10] [Reference Citation Analysis]
47 Ogasawara M, Iida A, Kumutpongpanich T, Ozaki A, Oya Y, Konishi H, Nakamura A, Abe R, Takai H, Hanajima R, Doi H, Tanaka F, Nakamura H, Nonaka I, Wang Z, Hayashi S, Noguchi S, Nishino I. CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations. Acta Neuropathol Commun 2020;8:204. [PMID: 33239111 DOI: 10.1186/s40478-020-01084-4] [Cited by in Crossref: 40] [Cited by in F6Publishing: 46] [Article Influence: 20.0] [Reference Citation Analysis]
48 Ogasawara M, Iida A, Kumutpongpanich T, Ozaki A, Oya Y, Konishi H, Nakamura A, Abe R, Takai H, Hanajima R, Doi H, Tanaka F, Nakamura H, Nonaka I, Wang Z, Hayashi S, Noguchi S, Nishino I. CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.. [DOI: 10.1101/2020.10.16.20213785] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
49 Garg P, Jadhav B, Rodriguez OL, Patel N, Martin-Trujillo A, Jain M, Metsu S, Olsen H, Paten B, Ritz B, Kooy RF, Gecz J, Sharp AJ. A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions. Am J Hum Genet 2020;107:654-69. [PMID: 32937144 DOI: 10.1016/j.ajhg.2020.08.019] [Cited by in Crossref: 20] [Cited by in F6Publishing: 23] [Article Influence: 10.0] [Reference Citation Analysis]