Su HZ - Search Results

1

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.

Dong EL, Wang C, Wu S, Lu YQ, Lin XH, Su HZ, Zhao M, He J, Ma LX, Wang N, Chen WJ, Lin X. Dong EL, et al. Among authors: su hz. Mol Neurodegener. 2018 Jul 6;13(1):36. doi: 10.1186/s13024-018-0269-1. Mol Neurodegener. 2018. PMID: 29980238 Free PMC article.

2

Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification.

Yao XP, Wang C, Su HZ, Guo XX, Lu YQ, Zhao M, Liu YB, Lai JH, Chen HT, Wang N, Chen WJ. Yao XP, et al. Among authors: su hz. Gene. 2016 Oct 28:S0378-1119(16)30826-5. doi: 10.1016/j.gene.2016.10.037. Online ahead of print. Gene. 2016. PMID: 27984190

3

Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families.

Wang C, Yao XP, Chen HT, Lai JH, Guo XX, Su HZ, Dong EL, Zhang QJ, Wang N, Chen WJ. Wang C, et al. Among authors: su hz. J Hum Genet. 2017 Jul;62(7):697-701. doi: 10.1038/jhg.2017.25. Epub 2017 Mar 16. J Hum Genet. 2017. PMID: 28298627

4

Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.

Yao XP, Zhao M, Wang C, Guo XX, Su HZ, Dong EL, Chen HT, Lai JH, Liu YB, Wang N, Chen WJ. Yao XP, et al. Among authors: su hz. Cell Tissue Res. 2017 Nov;370(2):267-273. doi: 10.1007/s00441-017-2663-3. Epub 2017 Aug 2. Cell Tissue Res. 2017. PMID: 28766044

5

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.

Yao XP, Cheng X, Wang C, Zhao M, Guo XX, Su HZ, Lai LL, Zou XH, Chen XJ, Zhao Y, Dong EL, Lu YQ, Wu S, Li X, Fan G, Yu H, Xu J, Wang N, Xiong ZQ, Chen WJ. Yao XP, et al. Among authors: su hz. Neuron. 2018 Jun 27;98(6):1116-1123.e5. doi: 10.1016/j.neuron.2018.05.037. Epub 2018 Jun 14. Neuron. 2018. PMID: 29910000 Free article.

6

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure.

He J, Lin H, Li JJ, Su HZ, Wang DN, Lin Y, Wang N, Chen WJ. He J, et al. Among authors: su hz. Chin Med J (Engl). 2018 Jul 5;131(13):1575-1583. doi: 10.4103/0366-6999.235113. Chin Med J (Engl). 2018. PMID: 29941711 Free PMC article.

7

Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.

Guo XX, Zou XH, Wang C, Yao XP, Su HZ, Lai LL, Chen HT, Lai JH, Liu YB, Chen DP, Deng YC, Lin P, Lin HS, Hong BC, Yao QY, Chen XJ, Huang DQ, Fu HX, Peng JD, Niu YF, Zhao YY, Zhu XQ, Lu XP, Lin HL, Li YK, Liu CY, Huang GB, Wang N, Chen WJ. Guo XX, et al. Among authors: su hz. Hum Mutat. 2019 Apr;40(4):392-403. doi: 10.1002/humu.23703. Epub 2019 Jan 15. Hum Mutat. 2019. PMID: 30609140

8

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: su hz. Clin Genet. 2019 Jul;96(1):53-60. doi: 10.1111/cge.13540. Epub 2019 Apr 25. Clin Genet. 2019. PMID: 30891739

9

Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.

Zou XH, Guo XX, Su HZ, Wang C, Dong EL, Wang N, Chen WJ, Zhang QJ. Zou XH, et al. Among authors: su hz. J Mol Neurosci. 2019 Aug;68(4):640-646. doi: 10.1007/s12031-019-01319-7. Epub 2019 May 10. J Mol Neurosci. 2019. PMID: 31077085

10

Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.

Lin X, Su HZ, Dong EL, Lin XH, Zhao M, Yang C, Wang C, Wang J, Chen YJ, Yu H, Xu J, Ma LX, Xiong ZQ, Wang N, Chen WJ. Lin X, et al. Among authors: su hz. Brain. 2019 Aug 1;142(8):2238-2252. doi: 10.1093/brain/awz158. Brain. 2019. PMID: 31203368

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