Liu JY - Search Results

1

Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy.

Du S, Zeng S, Song L, Ma H, Chen R, Luo J, Wang X, Ma T, Xu X, Sun H, Yi P, Guo J, Huang Y, Liu M, Wang T, Liao WP, Zhang L, Liu JY, Tang B. Du S, et al. Among authors: liu m, liu jy. Sci China Life Sci. 2023 Sep;66(9):2152-2166. doi: 10.1007/s11427-022-2313-1. Epub 2023 Apr 12. Sci China Life Sci. 2023. PMID: 37071290

2

PiT2 regulates neuronal outgrowth through interaction with microtubule-associated protein 1B.

Ma XX, Li X, Yi P, Wang C, Weng J, Zhang L, Xu X, Sun H, Feng S, Liu K, Chen R, Du S, Mao X, Zeng X, Zhang LY, Liu M, Tang BS, Zhu X, Jin S, Liu JY. Ma XX, et al. Among authors: liu k, liu m, liu jy. Sci Rep. 2017 Dec 19;7(1):17850. doi: 10.1038/s41598-017-17953-3. Sci Rep. 2017. PMID: 29259219 Free PMC article.

3

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.

Yin XM, Lin JH, Cao L, Zhang TM, Zeng S, Zhang KL, Tian WT, Hu ZM, Li N, Wang JL, Guo JF, Wang RX, Xia K, Zhang ZH, Yin F, Peng J, Liao WP, Yi YH, Liu JY, Yang ZX, Chen Z, Mao X, Yan XX, Jiang H, Shen L, Chen SD, Zhang LM, Tang BS. Yin XM, et al. Among authors: liu jy. Hum Mol Genet. 2018 Feb 15;27(4):625-637. doi: 10.1093/hmg/ddx430. Hum Mol Genet. 2018. PMID: 29294000

4

A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B.

Ma H, Feng S, Deng X, Wang L, Zeng S, Wang C, Ma X, Sun H, Chen R, Du S, Mao J, Zhang X, Ma C, Jiang H, Zhang L, Tang B, Liu JY. Ma H, et al. Among authors: liu jy. Epilepsia. 2018 Aug;59(8):1621-1630. doi: 10.1111/epi.14511. Epub 2018 Jul 15. Epilepsia. 2018. PMID: 30009426

5

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

6

A Novel CDH1 Mutation Causing Reduced E-Cadherin Dimerization Is Associated with Nonsyndromic Cleft Lip With or Without Cleft Palate.

Du S, Yang Y, Yi P, Luo J, Liu T, Chen R, Liu CJ, Ma T, Li Y, Wang C, Weng J, Liu M, Zhang L, Yang B, Zeng X, Liu JY. Du S, et al. Among authors: liu m, liu cj, liu t, liu jy. Genet Test Mol Biomarkers. 2019 Nov;23(11):759-765. doi: 10.1089/gtmb.2019.0092. Epub 2019 Oct 22. Genet Test Mol Biomarkers. 2019. PMID: 31638429

7

Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl.

Sun H, Cao Z, Gao R, Li Y, Chen R, Du S, Ma T, Wang J, Xu X, Liu JY. Sun H, et al. Among authors: liu jy. Mol Genet Genomic Med. 2021 May;9(5):e1670. doi: 10.1002/mgg3.1670. Epub 2021 Apr 1. Mol Genet Genomic Med. 2021. PMID: 33793087 Free PMC article.

8

Protein arginine methyltransferase 7 modulates neuronal excitability by interacting with NaV1.9.

Ma T, Li L, Chen R, Yang L, Sun H, Du S, Xu X, Cao Z, Zhang X, Zhang L, Shi X, Liu JY. Ma T, et al. Among authors: liu jy. Pain. 2022 Apr 1;163(4):753-764. doi: 10.1097/j.pain.0000000000002421. Pain. 2022. PMID: 34326297 Free PMC article.

9

A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics.

Chen R, Du S, Yao Y, Zhang L, Luo J, Shen Y, Xu Z, Zeng X, Zhang L, Liu M, Yin C, Tang B, Tan J, Xu X, Liu JY. Chen R, et al. Among authors: liu m, liu jy. Mov Disord. 2022 Mar;37(3):598-607. doi: 10.1002/mds.28885. Epub 2021 Dec 20. Mov Disord. 2022. PMID: 34927746 Free PMC article.

10

Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis.

Sun H, Xu X, Luo J, Ma T, Cui J, Liu M, Xiong B, Zhu S, Liu JY. Sun H, et al. Among authors: liu m, liu jy. Neurosci Bull. 2023 Jan;39(1):57-68. doi: 10.1007/s12264-022-00893-y. Epub 2022 Jun 17. Neurosci Bull. 2023. PMID: 35713844 Free PMC article.

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