Ji H - Search Results

1

Live-cell superresolution pathology reveals different molecular mechanisms of pelizaeus-merzbacher disease.

Zheng X, Duan R, Li L, Xing S, Ji H, Yan H, Gao K, Wang J, Wang J, Chen L. Zheng X, et al. Among authors: ji h. Sci Bull (Beijing). 2020 Dec 30;65(24):2061-2064. doi: 10.1016/j.scib.2020.08.016. Epub 2020 Aug 11. Sci Bull (Beijing). 2020. PMID: 36732956 Free article. No abstract available.

2

Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease.

Duan R, Li L, Yan H, He M, Gao K, Xing S, Ji H, Wang J, Cao B, Li D, Xie H, Zhao S, Wu Y, Jiang Y, Xiao J, Gu Q, Li M, Zheng X, Chen L, Wang J. Duan R, et al. Among authors: ji h. Neuroscience. 2021 Nov 10;476:60-71. doi: 10.1016/j.neuroscience.2021.08.029. Epub 2021 Sep 9. Neuroscience. 2021. PMID: 34506833 Free article.

3

Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.

Duan R, Ji H, Yan H, Wang J, Zhang Y, Zhang Q, Li D, Cao B, Gu Q, Wu Y, Jiang Y, Li M, Wang J. Duan R, et al. Among authors: ji h. Orphanet J Rare Dis. 2022 Mar 28;17(1):137. doi: 10.1186/s13023-022-02267-z. Orphanet J Rare Dis. 2022. PMID: 35346287 Free PMC article.

4

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.

Yan H, Shi Z, Wu Y, Xiao J, Gu Q, Yang Y, Li M, Gao K, Chen Y, Yang X, Ji H, Cao B, Duan R, Jiang Y, Wang J. Yan H, et al. Among authors: ji h. BMC Med Genet. 2019 May 14;20(1):80. doi: 10.1186/s12881-019-0794-y. BMC Med Genet. 2019. PMID: 31088393 Free PMC article.

5

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.

Yan H, Ji H, Kubisiak T, Wu Y, Xiao J, Gu Q, Yang Y, Xie H, Ji T, Gao K, Li D, Xiong H, Shi Z, Li M, Zhang Y, Duan R, Bao X, Jiang Y, Burmeister M, Wang J. Yan H, et al. Among authors: ji t, ji h. J Hum Genet. 2021 Aug;66(8):761-768. doi: 10.1038/s10038-020-00896-5. Epub 2021 Feb 18. J Hum Genet. 2021. PMID: 33597727 Free PMC article.

6

Identiﬁcation of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.

Ji T, Li D, Wu Y, Xiao J, Ji H, Wu X, Wang J, Jiang Y. Ji T, et al. Among authors: ji h. Minerva Pediatr (Torino). 2023 Feb;75(1):32-38. doi: 10.23736/S2724-5276.16.04451-0. Epub 2016 Apr 8. Minerva Pediatr (Torino). 2023. PMID: 27057822

7

The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.

Yan H, Kubisiak T, Ji H, Xiao J, Wang J, Burmeister M. Yan H, et al. Among authors: ji h. Brain. 2018 May 1;141(5):e36. doi: 10.1093/brain/awy029. Brain. 2018. PMID: 29444210 No abstract available.

8

Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease.

Xie H, Feng H, Ji J, Wu Y, Kou L, Li D, Ji H, Wu X, Niu Z, Wang J, Jiang Y. Xie H, et al. Among authors: ji h, ji j. Brain Dev. 2015 Sep;37(8):797-802. doi: 10.1016/j.braindev.2014.11.007. Epub 2014 Dec 6. Brain Dev. 2015. PMID: 25491635

9

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

Yan H, Helman G, Murthy SE, Ji H, Crawford J, Kubisiak T, Bent SJ, Xiao J, Taft RJ, Coombs A, Wu Y, Pop A, Li D, de Vries LS, Jiang Y, Salomons GS, van der Knaap MS, Patapoutian A, Simons C, Burmeister M, Wang J, Wolf NI. Yan H, et al. Among authors: ji h. Am J Hum Genet. 2019 Nov 7;105(5):996-1004. doi: 10.1016/j.ajhg.2019.09.011. Epub 2019 Oct 3. Am J Hum Genet. 2019. PMID: 31587869 Free PMC article.

10

Epilepsy in children with leukodystrophies.

Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y. Zhang J, et al. Among authors: ji h. J Neurol. 2020 Sep;267(9):2612-2618. doi: 10.1007/s00415-020-09889-y. Epub 2020 May 9. J Neurol. 2020. PMID: 32388833

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