Wang N - Search Results

1

Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.

Lin J, Li YL, Chen BL, Su HZ, Zeng YH, Zeng RH, Zhang YD, Chen RK, Cai NQ, Chen YK, Yuan RY, Jiang JY, Yao XP, Wang N, Chen WJ, Yang K. Lin J, et al. Among authors: wang n. Ann Clin Transl Neurol. 2024 Nov;11(11):2998-3009. doi: 10.1002/acn3.52212. Epub 2024 Oct 31. Ann Clin Transl Neurol. 2024. PMID: 39482827 Free PMC article.

2

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.

Lai LL, Chen YJ, Li YL, Lin XH, Wang MW, Dong EL, Wang N, Chen WJ, Lin X. Lai LL, et al. Among authors: wang n, wang mw. Ann Clin Transl Neurol. 2020 Oct;7(10):1862-1869. doi: 10.1002/acn3.51169. Epub 2020 Aug 29. Ann Clin Transl Neurol. 2020. PMID: 32860341 Free PMC article.

3

Cerebral-Cerebellar Cortical Activity and Connectivity Underlying Sensory Trick in Cervical Dystonia.

Cai NQ, Shi WX, Chen RK, Chen BL, Li YR, Wang N. Cai NQ, et al. Among authors: wang n. Ann Clin Transl Neurol. 2024 Oct;11(10):2633-2644. doi: 10.1002/acn3.52177. Epub 2024 Aug 16. Ann Clin Transl Neurol. 2024. PMID: 39152615 Free PMC article.

4

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure.

He J, Lin H, Li JJ, Su HZ, Wang DN, Lin Y, Wang N, Chen WJ. He J, et al. Among authors: wang n, wang dn. Chin Med J (Engl). 2018 Jul 5;131(13):1575-1583. doi: 10.4103/0366-6999.235113. Chin Med J (Engl). 2018. PMID: 29941711 Free PMC article.

5

Identification of SLC20A2 deletions in patients with primary familial brain calcification.

Guo XX, Su HZ, Zou XH, Lai LL, Lu YQ, Wang C, Li YL, Hong JM, Zhao M, Lin KX, Lin J, Zeng YH, Yao XP, Wang N, Chen WJ. Guo XX, et al. Among authors: wang n, wang c. Clin Genet. 2019 Jul;96(1):53-60. doi: 10.1111/cge.13540. Epub 2019 Apr 25. Clin Genet. 2019. PMID: 30891739

6

Analysis of Exon Dosage Using Multiplex Ligation-Dependent Probe Amplification in Chinese Patients with Early-Onset Parkinson's Disease.

Lin Y, Zeng YF, Cai NQ, Lin XZ, Wang N, He J. Lin Y, et al. Among authors: wang n. Eur Neurol. 2019;81(5-6):246-253. doi: 10.1159/000503421. Epub 2019 Oct 16. Eur Neurol. 2019. PMID: 31618739

7

Quantitative assessment of postural instability in spinocerebellar ataxia type 3 patients.

Liu XH, Li Y, Xu HL, Sikandar A, Lin WH, Li GH, Li XF, Alimu A, Yu SB, Ye XH, Wang N, Ni J, Chen WJ, Gan SR. Liu XH, et al. Among authors: wang n. Ann Clin Transl Neurol. 2020 Aug;7(8):1360-1370. doi: 10.1002/acn3.51124. Epub 2020 Jul 7. Ann Clin Transl Neurol. 2020. PMID: 32638517 Free PMC article.

8

Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.

Chen YJ, Zhang ZQ, Wang MW, Qiu YS, Yuan RY, Dong EL, Zhao Z, Zhou HT, Wang N, Chen WJ, Lin X. Chen YJ, et al. Among authors: wang n, wang mw. Front Neurol. 2021 May 19;12:627531. doi: 10.3389/fneur.2021.627531. eCollection 2021. Front Neurol. 2021. PMID: 34093392 Free PMC article.

9

Cutaneous Lesions as a Clue to the Etiology of Extensive Intracranial Calcifications: Aicardi-Goutières Syndrome.

Zeng YH, Zhao M, Guo XX, Wang N, Chen WJ. Zeng YH, et al. Among authors: wang n. Neurology. 2022 Mar 8;98(10):417-418. doi: 10.1212/WNL.0000000000013294. Epub 2022 Jan 7. Neurology. 2022. PMID: 34996880 Free PMC article. No abstract available.

10

Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study.

Qiu YS, Zeng YH, Yuan RY, Ye ZX, Bi J, Lin XH, Chen YJ, Wang MW, Liu Y, Yao SB, Chen YK, Jiang JY, Lin Y, Lin X, Wang N, Fu Y, Chen WJ. Qiu YS, et al. Among authors: wang n, wang mw. BMJ Open. 2022 Jan 11;12(1):e054011. doi: 10.1136/bmjopen-2021-054011. BMJ Open. 2022. PMID: 35017251 Free PMC article.

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