Lee NC - Search Results

1

Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease.

Hsueh HW, Kao HJ, Chao CC, Hsueh SJ, Huang YN, Lin WJ, Su JP, Shy HT, Yeh TY, Lin CC, Kwok PY, Lee NC, Hsieh ST. Hsueh HW, et al. Among authors: lee nc. Neurol Genet. 2023 Jun 16;9(4):e200078. doi: 10.1212/NXG.0000000000200078. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37346931 Free PMC article.

2

A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review.

Hsueh SJ, Lee NC, Yang SH, Lin HI, Lin CH. Hsueh SJ, et al. Among authors: lee nc. BMC Neurol. 2017 Jan 6;17(1):2. doi: 10.1186/s12883-016-0781-2. BMC Neurol. 2017. PMID: 28056872 Free PMC article. Review.

3

De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome.

Kao HJ, Chiang HL, Chen HH, Fan PC, Tu YF, Chou YY, Hwu WL, Lin CL, Kwok PY, Lee NC. Kao HJ, et al. Among authors: lee nc. Hum Mutat. 2020 Oct;41(10):1775-1782. doi: 10.1002/humu.24080. Epub 2020 Jul 22. Hum Mutat. 2020. PMID: 32652807

4

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy with amenorrhea, subclinical optic atrophy, and electroencephalographic abnormality: A case report.

Chang KC, Kuo YC, Hsueh HW, Lee NC, Yang CC, Hsieh ST, Chao CC. Chang KC, et al. Among authors: lee nc. eNeurologicalSci. 2020 Sep 9;21:100271. doi: 10.1016/j.ensci.2020.100271. eCollection 2020 Dec. eNeurologicalSci. 2020. PMID: 32984563 Free PMC article. No abstract available.

5

Towards a reference genome that captures global genetic diversity.

Wong KHY, Ma W, Wei CY, Yeh EC, Lin WJ, Wang EHF, Su JP, Hsieh FJ, Kao HJ, Chen HH, Chow SK, Young E, Chu C, Poon A, Yang CF, Lin DS, Hu YF, Wu JY, Lee NC, Hwu WL, Boffelli D, Martin D, Xiao M, Kwok PY. Wong KHY, et al. Among authors: lee nc. Nat Commun. 2020 Oct 30;11(1):5482. doi: 10.1038/s41467-020-19311-w. Nat Commun. 2020. PMID: 33127893 Free PMC article.

6

Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.

Lin CH, Tsai PI, Lin HY, Hattori N, Funayama M, Jeon B, Sato K, Abe K, Mukai Y, Takahashi Y, Li Y, Nishioka K, Yoshino H, Daida K, Chen ML, Cheng J, Huang CY, Tzeng SR, Wu YS, Lai HJ, Tsai HH, Yen RF, Lee NC, Lo WC, Hung YC, Chan CC, Ke YC, Chao CC, Hsieh ST, Farrer M, Wu RM. Lin CH, et al. Among authors: lee nc. Brain. 2020 Dec 5;143(11):3352-3373. doi: 10.1093/brain/awaa279. Brain. 2020. PMID: 33141179 Free PMC article.

7

A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan.

Kuo YC, Hsueh HW, Hsueh SJ, Lee NC, Hsieh MJ, Chao CC, Chien YH, Huang PH, Yang CC. Kuo YC, et al. Among authors: lee nc. Neuromuscul Disord. 2021 Mar;31(3):218-225. doi: 10.1016/j.nmd.2021.01.006. Epub 2021 Jan 13. Neuromuscul Disord. 2021. PMID: 33589341

8

Thymidine Kinase 2 Deficiency-Induced Adult-Onset Ptosis and Proximal Weakness.

Cheng CY, Chang KC, Hsueh HW, Lee NC, Huang PH, Yang CC, Hwu WL, Hsieh ST, Chao CC. Cheng CY, et al. Among authors: lee nc. Neurol Clin Pract. 2021 Jun;11(3):e379-e382. doi: 10.1212/CPJ.0000000000000850. Neurol Clin Pract. 2021. PMID: 34484922 Free PMC article. No abstract available.

9

Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.

Chen PS, Chao CC, Tsai LK, Huang HY, Chien YH, Huang PH, Hwu WL, Hsieh ST, Lee NC, Hsueh HW, Yang CC. Chen PS, et al. Among authors: lee nc. J Neuromuscul Dis. 2023;10(4):667-684. doi: 10.3233/JND-230013. J Neuromuscul Dis. 2023. PMID: 37066920 Free PMC article.

10

Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis - a case series study.

Hsueh SJ, Lin CH, Lee NC, Chang TM, Fan SP, Huang WD, Lin YH, Tsai LK, Chien YH, Lee MJ, Hwu WL, Hsueh HW, Yang CC. Hsueh SJ, et al. Among authors: lee nc. Orphanet J Rare Dis. 2024 May 24;19(1):217. doi: 10.1186/s13023-024-03216-8. Orphanet J Rare Dis. 2024. PMID: 38790028 Free PMC article.

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