Kim BJ - Search Results

1

TREX1 Deficiency Induces ER Stress-Mediated Neuronal Cell Death by Disrupting Ca²⁺ Homeostasis.

Halder D, Jeon SJ, Yoon JY, Lee JJ, Jun SY, Choi MH, Jeong B, Sung DH, Lee DY, Kim BJ, Kim NS. Halder D, et al. Among authors: kim ns, kim bj. Mol Neurobiol. 2022 Mar;59(3):1398-1418. doi: 10.1007/s12035-021-02631-3. Epub 2022 Jan 7. Mol Neurobiol. 2022. PMID: 34997539 Free PMC article.

2

Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.

Park SY, Ki CS, Kim HJ, Kim JW, Sung DH, Kim BJ, Lee WY. Park SY, et al. Among authors: kim hj, kim bj, kim jw. Arch Neurol. 2005 Jul;62(7):1118-21. doi: 10.1001/archneur.62.7.1118. Arch Neurol. 2005. PMID: 16009769

3

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.

Kim BJ, Ki CS, Kim JW, Sung DH, Choi YC, Kim SH. Kim BJ, et al. Among authors: kim sh, kim jw. J Hum Genet. 2006;51(2):137-140. doi: 10.1007/s10038-005-0338-5. Epub 2005 Dec 22. J Hum Genet. 2006. PMID: 16372135

4

Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.

Cho HJ, Sung DH, Kim BJ, Ki CS. Cho HJ, et al. Among authors: kim bj. Clin Genet. 2007 Mar;71(3):267-72. doi: 10.1111/j.1399-0004.2007.00763.x. Clin Genet. 2007. PMID: 17309650

5

Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in the Korean population.

Kwon MJ, Lee ST, Kim BJ, Sung DH, Kim JW, Ki CS. Kwon MJ, et al. Among authors: kim bj, kim jw. Ann Clin Lab Sci. 2010 Spring;40(2):156-62. Ann Clin Lab Sci. 2010. PMID: 20421627

6

Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy.

Song JS, Kim KA, Min JH, Ki CS, Kim JW, Sung DH, Kim BJ. Song JS, et al. Among authors: kim ka, kim bj, kim jw. Yonsei Med J. 2015 Jul;56(4):993-7. doi: 10.3349/ymj.2015.56.4.993. Yonsei Med J. 2015. PMID: 26069122 Free PMC article.

7

Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia.

Lim JH, Kang HM, Jung HR, Kim DS, Noh KH, Chang TK, Kim BJ, Sung DH, Cho HS, Chung KS, Kim NS, Jung CR. Lim JH, et al. Among authors: kim ds, kim ns, kim bj. Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3221-3233. doi: 10.1016/j.bbadis.2018.07.009. Epub 2018 Jul 11. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 30006150 Free article.

8

Clinical, electrodiagnostic and imaging features of true neurogenic thoracic outlet syndrome: Experience at a tertiary referral center.

Kim SW, Jeong JS, Kim BJ, Choe YH, Yoon YC, Sung DH. Kim SW, et al. Among authors: kim bj. J Neurol Sci. 2019 Sep 15;404:115-123. doi: 10.1016/j.jns.2019.07.024. Epub 2019 Jul 19. J Neurol Sci. 2019. PMID: 31374409

9

Erratum to: Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.

Kim BJ, Ki CS, Kim JW, Sung DH, Choi YC, Kim SH. Kim BJ, et al. Among authors: kim sh, kim jw. J Hum Genet. 2006 Sep;51(9):840. doi: 10.1007/s10038-006-0047-8. J Hum Genet. 2006. PMID: 32033508

10

Coiled-coil domain containing 50-V2 protein positively regulates neurite outgrowth.

Min JS, Halder D, Yoon JY, Jeon SJ, Jun SY, Lee JR, Lee JJ, Choi MH, Jung CR, Lee D, Kim BJ, Kim NS. Min JS, et al. Among authors: kim ns, kim bj. Sci Rep. 2020 Dec 4;10(1):21295. doi: 10.1038/s41598-020-78304-3. Sci Rep. 2020. PMID: 33277610 Free PMC article.

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