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Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
Zeng S, Zhang MY, Wang XJ, Hu ZM, Li JC, Li N, Wang JL, Liang F, Yang Q, Liu Q, Fang L, Hao JW, Shi FD, Ding XB, Teng JF, Yin XM, Jiang H, Liao WP, Liu JY, Wang K, Xia K, Tang BS. Zeng S, et al. Among authors: liu q, liu jy. J Med Genet. 2019 Apr;56(4):265-270. doi: 10.1136/jmedgenet-2018-105484. Epub 2018 Sep 7. J Med Genet. 2019. PMID: 30194086
Gain-of-function mutations in SCN11A cause familial episodic pain.
Zhang XY, Wen J, Yang W, Wang C, Gao L, Zheng LH, Wang T, Ran K, Li Y, Li X, Xu M, Luo J, Feng S, Ma X, Ma H, Chai Z, Zhou Z, Yao J, Zhang X, Liu JY. Zhang XY, et al. Among authors: liu jy. Am J Hum Genet. 2013 Nov 7;93(5):957-66. doi: 10.1016/j.ajhg.2013.09.016. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207120 Free PMC article.
(CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China.
Chen Z, Zheng C, Long Z, Cao L, Li X, Shang H, Yin X, Zhang B, Liu J, Ding D, Peng Y, Wang C, Peng H, Ye W, Qiu R, Pan Q, Xia K, Chen S, Sequeiros J, Ashizawa T, Klockgether T, Tang B, Jiang H; Chinese Clinical Research Cooperative Group for Spinocerebellar Ataxias (CCRCG-SCA). Chen Z, et al. Brain. 2016 Aug;139(Pt 8):e41. doi: 10.1093/brain/aww087. Epub 2016 Apr 16. Brain. 2016. PMID: 27085188 No abstract available.
Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease.
Chen Z, Wang C, Zheng C, Long Z, Cao L, Li X, Shang H, Yin X, Zhang B, Liu J, Ding D, Peng Y, Peng H, Ye W, Qiu R, Pan Q, Xia K, Chen S, Sequeiros J, Ashizawa T, Tang B, Jiang H; Chinese Clinical Research Cooperative Group for Spinocerebellar Ataxias (CCRCG-SCA). Chen Z, et al. Brain. 2017 Apr 1;140(4):e25. doi: 10.1093/brain/awx028. Brain. 2017. PMID: 28334945 No abstract available.
3,031 results