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Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
Ji H, Li D, Wu Y, Zhang Q, Gu Q, Xie H, Ji T, Wang H, Zhao L, Zhao H, Yang Y, Feng H, Xiong H, Ji J, Yang Z, Kou L, Li M, Bao X, Chang X, Zhang Y, Li L, Li H, Niu Z, Wu X, Xiao J, Jiang Y, Wang J. Ji H, et al. Among authors: ji t, ji j. PLoS One. 2018 Feb 16;13(2):e0188869. doi: 10.1371/journal.pone.0188869. eCollection 2018. PLoS One. 2018. PMID: 29451896 Free PMC article.
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.
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
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.
6,636 results