Park HJ - Search Results

1

Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.

Hong YB, Park JM, Yu JS, Yoo DH, Nam DE, Park HJ, Lee JS, Hwang SH, Chung KW, Choi BO. Hong YB, et al. Among authors: park jm, park hj. J Peripher Nerv Syst. 2017 Sep;22(3):172-181. doi: 10.1111/jns.12217. J Peripher Nerv Syst. 2017. PMID: 28448691

2

Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.

Park HJ, Shin HY, Kang HC, Choi BO, Suh BC, Kim HJ, Choi YC, Lee PH, Kim SM. Park HJ, et al. Yonsei Med J. 2014 May;55(3):676-82. doi: 10.3349/ymj.2014.55.3.676. Epub 2014 Apr 1. Yonsei Med J. 2014. PMID: 24719134 Free PMC article.

3

A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.

Park HJ, Kim HJ, Hong YB, Nam SH, Chung KW, Choi BO. Park HJ, et al. J Peripher Nerv Syst. 2014 Jun;19(2):175-9. doi: 10.1111/jns5.12062. J Peripher Nerv Syst. 2014. PMID: 24750328

4

A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.

Hong YB, Lee JH, Park HJ, Choi YR, Hyun YS, Park JH, Koo H, Chung KW, Choi BO. Hong YB, et al. Among authors: park jh, park hj. Mol Med Rep. 2015 Apr;11(4):2729-34. doi: 10.3892/mmr.2014.3047. Epub 2014 Dec 4. Mol Med Rep. 2015. PMID: 25482575

5

Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.

Park HJ, Choi YC, Kim SM, Kim SH, Hong YB, Yoon BR, Chung KW, Choi BO. Park HJ, et al. J Clin Neurol. 2015 Apr;11(2):183-7. doi: 10.3988/jcn.2015.11.2.183. Epub 2014 Nov 11. J Clin Neurol. 2015. PMID: 25749816 Free PMC article.

6

A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.

Choi YR, Hong YB, Jung SC, Lee JH, Kim YJ, Park HJ, Lee J, Koo H, Lee JS, Jwa DH, Jung N, Woo SY, Kim SB, Chung KW, Choi BO. Choi YR, et al. Among authors: park hj. BMC Neurol. 2015 Oct 5;15:179. doi: 10.1186/s12883-015-0430-1. BMC Neurol. 2015. PMID: 26437932 Free PMC article.

7

ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.

Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO. Park HJ, et al. Ann Neurol. 2016 Feb;79(2):231-43. doi: 10.1002/ana.24550. Epub 2015 Dec 15. Ann Neurol. 2016. PMID: 26506222

8

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.

Park HJ, Jang H, Lee JH, Shin HY, Cho SR, Park KD, Bang D, Lee MG, Kim SM, Lee JH, Choi YC. Park HJ, et al. Among authors: park kd. Yonsei Med J. 2016 Jan;57(1):173-9. doi: 10.3349/ymj.2016.57.1.173. Yonsei Med J. 2016. PMID: 26632398 Free PMC article.

9

Distal myopathy with ADSSL1 mutations in Korean patients.

Park HJ, Shin HY, Kim S, Kim SH, Lee Y, Lee JH, Hong JM, Kim SM, Park KD, Choi BO, Lee JH, Choi YC. Park HJ, et al. Among authors: park kd. Neuromuscul Disord. 2017 May;27(5):465-472. doi: 10.1016/j.nmd.2017.02.004. Epub 2017 Feb 14. Neuromuscul Disord. 2017. PMID: 28268051

10

Prevalence, Mortality, and Cause of Death in Charcot-Marie-Tooth Disease in Korea: A Nationwide, Population-Based Study.

Park HJ, Choi YC, Oh JW, Yi SW. Park HJ, et al. Neuroepidemiology. 2020;54(4):313-319. doi: 10.1159/000505815. Epub 2020 Jan 29. Neuroepidemiology. 2020. PMID: 31995800

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