Huang XJ - Search Results

1

Myotonia congenita: novel mutations in CLCN1 gene.

Liu XL, Huang XJ, Shen JY, Zhou HY, Luan XH, Wang T, Chen SD, Wang Y, Tang HD, Cao L. Liu XL, et al. Among authors: huang xj. Channels (Austin). 2015;9(5):292-8. doi: 10.1080/19336950.2015.1075676. Epub 2015 Aug 11. Channels (Austin). 2015. PMID: 26260254 Free PMC article.

2

Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot.

Cao L, Huang XJ, Zheng L, Xiao Q, Wang XJ, Chen SD. Cao L, et al. Among authors: huang xj. Parkinsonism Relat Disord. 2012 Jun;18(5):704-6. doi: 10.1016/j.parkreldis.2012.02.006. Epub 2012 Mar 3. Parkinsonism Relat Disord. 2012. PMID: 22386217 No abstract available.

3

Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum.

Cao L, Rong TY, Huang XJ, Fang R, Wu ZY, Tang HD, Chen SD. Cao L, et al. Among authors: huang xj. Parkinsonism Relat Disord. 2013 Mar;19(3):367-70. doi: 10.1016/j.parkreldis.2012.10.007. Epub 2012 Oct 31. Parkinsonism Relat Disord. 2013. PMID: 23121729

4

A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review.

Cao L, Huang XJ, Chen CJ, Chen SD. Cao L, et al. Among authors: huang xj. J Neurol Sci. 2013 Jun 15;329(1-2):1-5. doi: 10.1016/j.jns.2013.02.026. Epub 2013 Apr 6. J Neurol Sci. 2013. PMID: 23566484 Review.

5

PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia.

Wu L, Tang HD, Huang XJ, Zheng L, Liu XL, Wang T, Wang JY, Cao L, Chen SD. Wu L, et al. Among authors: huang xj. Parkinsonism Relat Disord. 2014 Dec;20(12):1399-404. doi: 10.1016/j.parkreldis.2014.10.012. Epub 2014 Oct 19. Parkinsonism Relat Disord. 2014. PMID: 25457817

6

Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.

Liu XL, Huang XJ, Luan XH, Zhou HY, Wang T, Wang JY, Chen SD, Tang HD, Cao L. Liu XL, et al. Among authors: huang xj. Channels (Austin). 2015;9(2):82-7. doi: 10.1080/19336950.2015.1012945. Channels (Austin). 2015. PMID: 25839108 Free PMC article. Review.

7

Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation.

Liu XL, Huang XJ, Luan XH, Zhou HY, Wang T, Wang JY, Shen JY, Chen SD, Tang HD, Cao L. Liu XL, et al. Among authors: huang xj. J Neurol Sci. 2015 May 15;352(1-2):105-6. doi: 10.1016/j.jns.2015.02.027. Epub 2015 Feb 20. J Neurol Sci. 2015. PMID: 25847018 No abstract available.

8

The Pathogenesis of Paroxysmal Kinesigenic Dyskinesia: Current Concepts.

Li ZY, Tian WT, Huang XJ, Cao L. Li ZY, et al. Among authors: huang xj. Mov Disord. 2023 Apr;38(4):537-544. doi: 10.1002/mds.29326. Epub 2023 Jan 31. Mov Disord. 2023. PMID: 36718795 Review.

9

An Electroencephalography Profile of Paroxysmal Kinesigenic Dyskinesia.

Luo H, Huang X, Li Z, Tian W, Fang K, Liu T, Wang S, Tang B, Hu J, Yuan TF, Cao L. Luo H, et al. Adv Sci (Weinh). 2024 Mar;11(12):e2306321. doi: 10.1002/advs.202306321. Epub 2024 Jan 16. Adv Sci (Weinh). 2024. PMID: 38227367 Free PMC article.

10

Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4.

Yao L, Cao Y, Zhang C, Huang X, Tian W, Cao L. Yao L, et al. Clin Genet. 2024 Jul;106(1):56-65. doi: 10.1111/cge.14510. Epub 2024 Feb 25. Clin Genet. 2024. PMID: 38403837

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