1 | GIPC1, LRP12, NOTCH2NLC, OPDM1, OPDM2, OPDM3, OPDM4, RILPL1
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| The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4
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| 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.
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| Am J Hum Genet. Mar 3;109(3):533-541. doi: 10.1016/j.ajhg.2022.01.012. Epub 2022 Feb 10. 2022
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2 | NOTCH2NLC, OPDM3
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| The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3
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| Yuan Y, Wang Z.
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| Brain. Jul 28;144(6):1819-1832. doi: 10.1093/brain/awab077. Erratum in: Brain. 2021 Oct 22;144(9):e81. 2021
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3 | ETM6, NOTCH2NLC
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| Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor
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| Sun QY, Xu Q, Tian Y, Hu ZM, Qin LX, Yang JX, Huang W, Xue J, Li JC, Zeng S, Wang Y, Min HX, Chen XY, Wang JP, Xie B, Liang F, Zhang HN, Wang CY, Lei LF, Yan XX, Xu HW, Duan RH, Xia K, Liu JY, Jiang H, Shen L, Guo JF, Tang BS.
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| Brain Jan 1;143(1):222-233. doi: 10.1093/brain/awz372. Erratum in: Brain. 2020 Mar 1;143(3):e24 2020
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4 | ETM6, NOTCH2NLC
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| Association of NOTCH2NLC Repeat Expansions With Parkinson Disease.
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| Ma D, Tan YJ, Ng ASL, Ong HL, Sim W, Lim WK, Teo JX, Ng EYL, Lim EC, Lim EW, Chan LL, Tan LCS, Yi Z, Tan EK.
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| JAMA Neurol. Aug 24:e203023. doi: 10.1001/jamaneurol.2020.3023. Online ahead of print. 2020
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5 | NOTCH2NLC, OPDM3
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| CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
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| 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.
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| Neuropathol Commun. Nov 25;8(1):204. doi: 10.1186/s40478-020-01084-4. 2020
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6 | LNINI, NOTCH2NLC
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| Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease
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| Deng J, Gu M, Miao Y, Yao S, Zhu M, Fang P, Yu X, Li P, Su Y, Huang J, Zhang J, Yu J, Li F, Bai J, Sun W, Huang Y, Yuan Y, Hong D, Wang Z.
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| J Med Genet. Nov;56(11):758-764. doi: 10.1136/jmedgenet-2019-106268. Epub 2019 Aug 14. 2019
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7 | LNINI, NOTCH2NLC
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| Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
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| Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G.
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| Nat Genet. Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22. 2019
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8 | LNINI, NOTCH2NLC
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| Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
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| Tian Y, Wang JL, Huang W, Zeng S, Jiao B, Liu Z, Chen Z, Li Y, Wang Y, Min HX, Wang XJ, You Y, Zhang RX, Chen XY, Yi F, Zhou YF, Long HY, Zhou CJ, Hou X, Wang JP, Xie B, Liang F, Yang ZY, Sun QY, Allen EG, Shafik AM, Kong HE, Guo JF, Yan XX, Hu ZM, Xia K, Jiang H, Xu HW, Duan RH, Jin P, Tang BS, Shen L.
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| Am J Hum Genet. Jul 3;105(1):166-176. doi: 10.1016/j.ajhg.2019.05.013. Epub 2019 Jun 6. 2019
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9 | NOTCH2NLC
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| Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.
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| Fiddes IT, Lodewijk GA, Mooring M, Bosworth CM, Ewing AD, Mantalas GL, Novak AM, van den Bout A, Bishara A, Rosenkrantz JL, Lorig-Roach R, Field AR, Haeussler M, Russo L, Bhaduri A, Nowakowski TJ, Pollen AA, Dougherty ML, Nuttle X, Addor MC, Zwolinski S, Katzman S, Kriegstein A, Eichler EE, Salama SR, Jacobs FMJ, Haussler D
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| Cell May 31;173(6):1356-1369.e22. doi: 10.1016/j.cell.2018.03.051. Epub 2018 May 31 2018
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10 | ELA2, ELANE, NOTCH2NLC
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| A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.
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| Duan Z, Li FQ, Wechsler J, Meade-White K, Williams K, Benson KF, Horwitz M.
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| Mol Cell Biol 24(1):58-70. 2004
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