Zeng YH - Search Results

1

Loss of function of CMPK2 causes mitochondria deficiency and brain calcification.

Zhao M, Su HZ, Zeng YH, Sun Y, Guo XX, Li YL, Wang C, Zhao ZY, Huang XJ, Lin KJ, Ye ZL, Lin BW, Hong S, Zheng J, Liu YB, Yao XP, Yang D, Lu YQ, Chen HZ, Zuo E, Yang G, Wang HT, Huang CW, Lin XH, Cen Z, Lai LL, Zhang YK, Li X, Lai T, Lin J, Zuo DD, Lin MT, Liou CW, Kong QX, Yan CZ, Xiong ZQ, Wang N, Luo W, Zhao CP, Cheng X, Chen WJ. Zhao M, et al. Among authors: zeng yh. Cell Discov. 2022 Nov 29;8(1):128. doi: 10.1038/s41421-022-00475-2. Cell Discov. 2022. PMID: 36443312 Free PMC article.

2

Identification of SLC20A2 deletions in patients with primary familial brain calcification.

Guo XX, Su HZ, Zou XH, Lai LL, Lu YQ, Wang C, Li YL, Hong JM, Zhao M, Lin KX, Lin J, Zeng YH, Yao XP, Wang N, Chen WJ. Guo XX, et al. Among authors: zeng yh. Clin Genet. 2019 Jul;96(1):53-60. doi: 10.1111/cge.13540. Epub 2019 Apr 25. Clin Genet. 2019. PMID: 30891739

3

Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification.

Zeng YH, Lin BW, Su HZ, Guo XX, Li YL, Lai LL, Chen WJ, Zhao M, Yao XP. Zeng YH, et al. Front Genet. 2021 Oct 18;12:732389. doi: 10.3389/fgene.2021.732389. eCollection 2021. Front Genet. 2021. PMID: 34745211 Free PMC article.

4

Exome-Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene.

Li YL, Lv WQ, Zeng YH, Chen YK, Wang XL, Yang K, Ding YL, Chen RK, Wang N, Chen WJ. Li YL, et al. Among authors: zeng yh. Mov Disord. 2022 Mar;37(3):641-643. doi: 10.1002/mds.28904. Epub 2021 Dec 31. Mov Disord. 2022. PMID: 34970790 No abstract available.

5

Cutaneous Lesions as a Clue to the Etiology of Extensive Intracranial Calcifications: Aicardi-Goutières Syndrome.

Zeng YH, Zhao M, Guo XX, Wang N, Chen WJ. Zeng YH, et al. Neurology. 2022 Mar 8;98(10):417-418. doi: 10.1212/WNL.0000000000013294. Epub 2022 Jan 7. Neurology. 2022. PMID: 34996880 Free PMC article. No abstract available.

6

Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study.

Qiu YS, Zeng YH, Yuan RY, Ye ZX, Bi J, Lin XH, Chen YJ, Wang MW, Liu Y, Yao SB, Chen YK, Jiang JY, Lin Y, Lin X, Wang N, Fu Y, Chen WJ. Qiu YS, et al. Among authors: zeng yh. BMJ Open. 2022 Jan 11;12(1):e054011. doi: 10.1136/bmjopen-2021-054011. BMJ Open. 2022. PMID: 35017251 Free PMC article.

7

Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation.

Yang K, Zeng YH, Qiu YS, Lin F, Chen HZ, Jin M, Chen L, Zheng FZ, Ding YL, Cao CY, Lin MT, Chen WJ, Wang ZQ, Wang N. Yang K, et al. Among authors: zeng yh. Acta Neuropathol. 2022 Jun;143(6):733-735. doi: 10.1007/s00401-022-02422-7. Epub 2022 May 2. Acta Neuropathol. 2022. PMID: 35499779 No abstract available.

8

GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy.

Zeng YH, Yang K, Du GQ, Chen YK, Cao CY, Qiu YS, He J, Lv HD, Qu QQ, Chen JN, Xu GR, Chen L, Zheng FZ, Zhao M, Lin MT, Chen WJ, Hu J, Wang ZQ, Wang N. Zeng YH, et al. Ann Neurol. 2022 Sep;92(3):512-526. doi: 10.1002/ana.26436. Epub 2022 Jul 2. Ann Neurol. 2022. PMID: 35700120

9

Knockdown of myorg leads to brain calcification in zebrafish.

Zhao M, Lin XH, Zeng YH, Su HZ, Wang C, Yang K, Chen YK, Lin BW, Yao XP, Chen WJ. Zhao M, et al. Among authors: zeng yh. Mol Brain. 2022 Jul 23;15(1):65. doi: 10.1186/s13041-022-00953-4. Mol Brain. 2022. PMID: 35870928 Free PMC article.

10

Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.

He J, Liu XX, Ma MM, Lin JJ, Fu J, Chen YK, Xu GR, Xu LQ, Fu ZF, Xu D, Chen WF, Cao CY, Shi Y, Zeng YH, Zhang J, Chen XC, Zhang RX, Wang N, Kennerson M, Fan DS, Chen WJ. He J, et al. Among authors: zeng yh. Ann Neurol. 2023 Feb;93(2):244-256. doi: 10.1002/ana.26501. Epub 2022 Sep 28. Ann Neurol. 2023. PMID: 36088542

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