Kim SH - Search Results

1

De novo mutations in SOD1 are a cause of ALS.

Müller K, Oh KW, Nordin A, Panthi S, Kim SH, Nordin F, Freischmidt A, Ludolph AC, Ki CS, Forsberg K, Weishaupt J, Kim YE, Andersen PM. Müller K, et al. Among authors: kim sh, kim ye. J Neurol Neurosurg Psychiatry. 2022 Feb;93(2):201-206. doi: 10.1136/jnnp-2021-327520. Epub 2021 Sep 13. J Neurol Neurosurg Psychiatry. 2022. PMID: 34518333 Free PMC article.

2

De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis.

Kim YE, Oh KW, Kwon MJ, Choi WJ, Oh SI, Ki CS, Kim SH. Kim YE, et al. Among authors: kim sh. Neurobiol Aging. 2015 Mar;36(3):1604.e17-9. doi: 10.1016/j.neurobiolaging.2014.10.002. Epub 2014 Oct 13. Neurobiol Aging. 2015. PMID: 25457557

3

Epidemiology of ALS in Korea using nationwide big data.

Jun KY, Park J, Oh KW, Kim EM, Bae JS, Kim I, Kim SH. Jun KY, et al. Among authors: kim sh, kim em, kim i. J Neurol Neurosurg Psychiatry. 2019 Apr;90(4):395-403. doi: 10.1136/jnnp-2018-318974. Epub 2018 Nov 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30409890 Free PMC article.

4

Spectrum of cognitive impairment in Korean ALS patients without known genetic mutations.

Oh SI, Park A, Kim HJ, Oh KW, Choi H, Kwon MJ, Ki CS, Kim HT, Kim SH. Oh SI, et al. Among authors: kim hj, kim sh, kim ht. PLoS One. 2014 Feb 3;9(2):e87163. doi: 10.1371/journal.pone.0087163. eCollection 2014. PLoS One. 2014. PMID: 24498297 Free PMC article.

5

Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosis.

Kim HJ, Kwon MJ, Choi WJ, Oh KW, Oh SI, Ki CS, Kim SH. Kim HJ, et al. Among authors: kim sh. Neurobiol Aging. 2014 Aug;35(8):1957.e7-8. doi: 10.1016/j.neurobiolaging.2014.03.001. Epub 2014 Mar 5. Neurobiol Aging. 2014. PMID: 24684794

6

Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing.

Kim HJ, Oh KW, Kwon MJ, Oh SI, Park JS, Kim YE, Choi BO, Lee S, Ki CS, Kim SH. Kim HJ, et al. Among authors: kim sh, kim ye. Neurobiol Aging. 2016 Jan;37:209.e9-209.e16. doi: 10.1016/j.neurobiolaging.2015.09.012. Epub 2015 Sep 30. Neurobiol Aging. 2016. PMID: 26601740

7

Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis.

Lim SM, Choi WJ, Oh KW, Xue Y, Choi JY, Kim SH, Nahm M, Kim YE, Lee J, Noh MY, Lee S, Hwang S, Ki CS, Fu XD, Kim SH. Lim SM, et al. Among authors: kim sh, kim ye. Mol Neurodegener. 2016 Jan 22;11:8. doi: 10.1186/s13024-016-0075-6. Mol Neurodegener. 2016. PMID: 26795035 Free PMC article.

8

CLEC4C p.K210del variant causes impaired cell surface transport in plasmacytoid dendritic cells of amyotrophic lateral sclerosis.

Lim SM, Kim YE, Choi WJ, Oh KW, Noh MY, Kwon MS, Nahm M, Kim N, Ki CS, Kim SH. Lim SM, et al. Among authors: kim sh, kim n, kim ye. Oncotarget. 2016 May 3;7(18):24942-9. doi: 10.18632/oncotarget.7886. Oncotarget. 2016. PMID: 26943047 Free PMC article.

9

Vitamin D levels are not predictors of survival in a clinic population of patients with ALS.

Yang J, Park JS, Oh KW, Oh SI, Park HM, Kim SH. Yang J, et al. Among authors: kim sh. J Neurol Sci. 2016 Aug 15;367:83-8. doi: 10.1016/j.jns.2016.05.007. Epub 2016 May 7. J Neurol Sci. 2016. PMID: 27423568

10

Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis.

Kim YE, Oh KW, Noh MY, Nahm M, Park J, Lim SM, Jang JH, Cho EH, Ki CS, Lee S, Kim SH. Kim YE, et al. Among authors: kim sh. Neurobiol Aging. 2017 Feb;50:170.e1-170.e6. doi: 10.1016/j.neurobiolaging.2016.11.003. Epub 2016 Nov 19. Neurobiol Aging. 2017. PMID: 27939697

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