Li XY - Search Results

1

A novel loss-of-function compound heterozygous mutation of MYORG causes idiopathic basal ganglia calcification 7.

Zhu J, Xu F, Wang C, Li XY, Zhao G. Zhu J, et al. Among authors: li xy. Parkinsonism Relat Disord. 2022 Apr;97:65-67. doi: 10.1016/j.parkreldis.2022.03.011. Epub 2022 Mar 21. Parkinsonism Relat Disord. 2022. PMID: 35334423 No abstract available.

2

Rare, low-frequency and common coding variants of ARHGEF28 gene and their association with sporadic amyotrophic lateral sclerosis.

Song Y, Lin F, Ye CH, Huang H, Li X, Yao X, Xu Y, Wang C. Song Y, et al. Neurobiol Aging. 2020 Mar;87:138.e1-138.e6. doi: 10.1016/j.neurobiolaging.2019.02.021. Epub 2019 Mar 26. Neurobiol Aging. 2020. PMID: 31060816

3

Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases.

Wang X, Yang Y, Li X, Li C, Wang C. Wang X, et al. Orphanet J Rare Dis. 2019 May 15;14(1):109. doi: 10.1186/s13023-019-1058-9. Orphanet J Rare Dis. 2019. PMID: 31092259 Free PMC article.

4

Phosphorylated Alpha-Synuclein in Red Blood Cells as a Potential Diagnostic Biomarker for Multiple System Atrophy: A Pilot Study.

Li XY, Yang W, Li X, Li XR, Li W, Song Q, Sun L, Lin F, Chen Z, Wang C, Yu S. Li XY, et al. Among authors: li w, li x, li xr. Parkinsons Dis. 2020 Jan 31;2020:8740419. doi: 10.1155/2020/8740419. eCollection 2020. Parkinsons Dis. 2020. PMID: 32089817 Free PMC article.

5

Comprehensive genetic, clinical and electrophysiological studies of familial cortical myoclonic tremor with epilepsy 1 highlight the role of gene configurations.

Pan S, Li X, Li L, Lin H, Wang D, Zhang X, Zhao X, Ye J, Huang Z, Lin Y, Duan Y, Ma R, Gao L, Wang C, Wang Y. Pan S, et al. Seizure. 2021 Apr;87:69-74. doi: 10.1016/j.seizure.2021.02.026. Epub 2021 Feb 23. Seizure. 2021. PMID: 33721773 Free article.

6

Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.

Wang Z, Song Y, Wang X, Li X, Xu F, Si L, Dong Y, Yao T, Zhu J, Lai H, Li W, Lin F, Huang H, Wang C. Wang Z, et al. Neurosci Lett. 2021 May 1;752:135831. doi: 10.1016/j.neulet.2021.135831. Epub 2021 Mar 18. Neurosci Lett. 2021. PMID: 33746006 Free article.

7

Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy.

Li XY, Cui Y, Jing D, Xie K, Zhong X, Kong Y, Wang Y, Chu M, Wang C, Wu L. Li XY, et al. Alzheimer Dis Assoc Disord. 2021 Jul-Sep 01;35(3):208-213. doi: 10.1097/WAD.0000000000000438. Alzheimer Dis Assoc Disord. 2021. PMID: 33973882 Free PMC article.

8

A novel FBXO7-R345P mutation in a Chinese family with autosomal recessive parkinsonian-pyramidal syndrome.

Wang Z, Song Y, Zhu W, Wang X, Li X, Xu F, Si L, Yao T, Zhu J, Lai H, Li W, Lin F, Wang C. Wang Z, et al. Parkinsonism Relat Disord. 2021 Jul;88:62-67. doi: 10.1016/j.parkreldis.2021.06.005. Epub 2021 Jun 10. Parkinsonism Relat Disord. 2021. PMID: 34144229

9

Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese.

Dong Y, Li XY, Wang XL, Xu F, Wang ZJ, Song Y, Li Q, Lin R, Wang C. Dong Y, et al. Among authors: li xy, li q. Neurosci Lett. 2021 Sep 14;761:136108. doi: 10.1016/j.neulet.2021.136108. Epub 2021 Jul 10. Neurosci Lett. 2021. PMID: 34256108

10

Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy.

Wang X, Li XY, Piao Y, Yuan G, Lin Y, Chen H, Wang Z, Li C, Wang C. Wang X, et al. Among authors: li c, li xy. Am J Med Genet A. 2022 Jan;188(1):237-242. doi: 10.1002/ajmg.a.62475. Epub 2021 Aug 30. Am J Med Genet A. 2022. PMID: 34459558

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