Chen HZ - 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: chen hz, chen wj. Cell Discov. 2022 Nov 29;8(1):128. doi: 10.1038/s41421-022-00475-2. Cell Discov. 2022. PMID: 36443312 Free PMC article.

2

A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.

Lin XD, He JJ, Lin F, Chen HZ, Xu LQ, Hu W, Cai NQ, Lin MT, Wang N, Wang ZQ, Xu GR. Lin XD, et al. Among authors: chen hz. Chin Med J (Engl). 2018 Sep 20;131(18):2164-2171. doi: 10.4103/0366-6999.240797. Chin Med J (Engl). 2018. PMID: 30203790 Free PMC article.

3

Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

Chen HZ, Jin M, Cai NQ, Lin XD, Liu XY, Xu LQ, Lin MT, Lin F, Wang N, Wang ZQ, Xu GR. Chen HZ, et al. Chin Med J (Engl). 2019 Jul 5;132(13):1615-1618. doi: 10.1097/CM9.0000000000000288. Chin Med J (Engl). 2019. PMID: 31058673 Free PMC article.

4

Clinical and genetic characterization of limb girdle muscular dystrophy R7 telethonin-related patients from three unrelated Chinese families.

Chen H, Xu G, Lin F, Jin M, Cai N, Qiu L, Ye Z, Wang L, Lin M, Wang N. Chen H, et al. Neuromuscul Disord. 2020 Feb;30(2):137-143. doi: 10.1016/j.nmd.2019.12.004. Epub 2019 Dec 17. Neuromuscul Disord. 2020. PMID: 32005491

5

Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy.

Qiu L, Ye Z, Lin L, Wang L, Lin X, He J, Lin F, Xu G, Cai N, Jin M, Chen H, Lin M, Wang N, Wang Z. Qiu L, et al. J Med Genet. 2020 Nov;57(11):777-785. doi: 10.1136/jmedgenet-2019-106638. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170003

6

Base editing-mediated splicing correction therapy for spinal muscular atrophy.

Lin X, Chen H, Lu YQ, Hong S, Hu X, Gao Y, Lai LL, Li JJ, Wang Z, Ying W, Ma L, Wang N, Zuo E, Yang H, Chen WJ. Lin X, et al. Cell Res. 2020 Jun;30(6):548-550. doi: 10.1038/s41422-020-0304-y. Epub 2020 Mar 24. Cell Res. 2020. PMID: 32210360 Free PMC article. No abstract available.

7

CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.

Liu XY, Chen XJ, Zhao M, Wang ZQ, Chen HZ, Li HF, Wang CJ, Wu SF, Peng C, Yin Y, Fu HX, Lin MT, Yu L, Xiong ZQ, Wu ZY, Wang N. Liu XY, et al. Among authors: chen xj, chen hz. J Inherit Metab Dis. 2021 Mar;44(2):450-468. doi: 10.1002/jimd.12361. Epub 2021 Jan 25. J Inherit Metab Dis. 2021. PMID: 33438237

8

Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice.

Li JJ, Lin X, Tang C, Lu YQ, Hu X, Zuo E, Li H, Ying W, Sun Y, Lai LL, Chen HZ, Guo XX, Zhang QJ, Wu S, Zhou C, Shen X, Wang Q, Lin MT, Ma LX, Wang N, Krainer AR, Shi L, Yang H, Chen WJ. Li JJ, et al. Among authors: chen hz, chen wj. Natl Sci Rev. 2019 Sep 3;7(1):92-101. doi: 10.1093/nsr/nwz131. eCollection 2020 Jan. Natl Sci Rev. 2019. PMID: 34691481 Free PMC article.

9

A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2.

Qiu LL, Lin XD, Xu GR, Wang LL, Ye ZX, Lin F, Chen HZ, Lin MT, Cai NQ, Jin M, Xu LQ, Hu W, Wang N, Wang ZQ. Qiu LL, et al. Among authors: chen hz. Chin Med J (Engl). 2021 Mar 23;134(22):2753-2755. doi: 10.1097/CM9.0000000000001425. Chin Med J (Engl). 2021. PMID: 34845997 Free PMC article. No abstract available.

10

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: chen l, chen hz, chen wj. 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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

777 results

Search Page