Luan X - Search Results

1

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.

2

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. Channels (Austin). 2015;9(2):82-7. doi: 10.1080/19336950.2015.1012945. Channels (Austin). 2015. PMID: 25839108 Free PMC article. Review.

3

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. 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.

4

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. 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.

5

Novel ATM mutations with ataxia-telangiectasia.

Liu XL, Wang T, Huang XJ, Zhou HY, Luan XH, Shen JY, Chen SD, Cao L. Liu XL, et al. Neurosci Lett. 2016 Jan 12;611:112-5. doi: 10.1016/j.neulet.2015.11.036. Epub 2015 Nov 25. Neurosci Lett. 2016. PMID: 26628246

6

Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review.

Luan X, Tian W, Cao L. Luan X, et al. Clin Neurol Neurosurg. 2016 Nov;150:41-45. doi: 10.1016/j.clineuro.2016.08.021. Epub 2016 Aug 22. Clin Neurol Neurosurg. 2016. PMID: 27588369 Review.

7

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. 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.

8

Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type III.

Luan XH, Liu J. Luan XH, et al. Chin Med J (Engl). 2017 Oct 5;130(19):2382-2383. doi: 10.4103/0366-6999.215339. Chin Med J (Engl). 2017. PMID: 28937047 Free PMC article. No abstract available.

9

Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.

Tian WT, Liu XL, Xu YQ, Huang XJ, Zhou HY, Wang Y, Tang HD, Chen SD, Luan XH, Cao L. Tian WT, et al. Seizure. 2018 Apr;57:80-86. doi: 10.1016/j.seizure.2018.03.015. Epub 2018 Mar 14. Seizure. 2018. PMID: 29605618 Free article. Review.

10

The study of exercise tests in paroxysmal kinesigenic dyskinesia.

Zhou HY, Zhan FX, Tian WT, Zhang C, Wang Y, Zhu ZY, Liu XL, Xu YQ, Luan XH, Huang XJ, Chen SD, Cao L. Zhou HY, et al. Clin Neurophysiol. 2018 Nov;129(11):2435-2441. doi: 10.1016/j.clinph.2018.09.004. Epub 2018 Sep 15. Clin Neurophysiol. 2018. PMID: 30293034 Clinical Trial.

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