Huang XJ - Search Results

1

Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18.

Tian WT, Shen JY, Liu XL, Wang T, Luan XH, Zhou HY, Chen SD, Huang XJ, Cao L. Tian WT, et al. Among authors: huang xj. Chin Med J (Engl). 2016 Nov 20;129(22):2759-2761. doi: 10.4103/0366-6999.193444. Chin Med J (Engl). 2016. PMID: 27824013 Free PMC article. No abstract available.

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

Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.

Luan X, Huang X, Liu X, Zhou H, Chen S, Cao L. Luan X, et al. Brain Dev. 2016 Aug;38(7):685-9. doi: 10.1016/j.braindev.2016.02.001. Epub 2016 Feb 24. Brain Dev. 2016. PMID: 26922252 Review.

9

Depression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients.

Tian WT, Huang XJ, Liu XL, Shen JY, Liang GL, Zhu CX, Tang WG, Chen SD, Song YY, Cao L. Tian WT, et al. Among authors: huang xj. Chin Med J (Engl). 2017 Sep 5;130(17):2088-2094. doi: 10.4103/0366-6999.213431. Chin Med J (Engl). 2017. PMID: 28836553 Free PMC article.

10

Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.

Tian WT, Huang XJ, Mao X, Liu Q, Liu XL, Zeng S, Guo XN, Shen JY, Xu YQ, Tang HD, Yin XM, Zhang M, Tang WG, Liu XR, Tang BS, Chen SD, Cao L. Tian WT, et al. Among authors: huang xj. Mov Disord. 2018 Mar;33(3):459-467. doi: 10.1002/mds.27274. Epub 2018 Jan 22. Mov Disord. 2018. PMID: 29356177

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

1,768 results

Search Page

Filters