KoreaMed Synapse

Go to TopGo to Top Go to BottomGo to Bottom


1	A novel p.Leu699Pro mutation in MFN2 gene causes Charcot-Marie-Tooth disease type 2A Sa-Yoon Kang, Keun Hyuk Ko, Jung-Hwan Oh Ann Clin Neurophysiol.2019;21(1):57-60. Published online 2019 January 20 DOI: http://dx.doi.org/10.14253/acn.2019.21.1.57

2	Misunderstanding of Foot Drop in a Patient with Charcot-Marie-Tooth Disease and Lumbar Disk Herniation Youngmin Han, Kyoung-Tae Kim, Dae-Chul Cho, Joo-Kyung Sung J Korean Neurosurg Soc.2015;57(4):295-297. Published online 2015 April 24 DOI: http://dx.doi.org/10.3340/jkns.2015.57.4.295

3	Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family Ye Ji Choi, Young Se Hyun, Soo Hyun Nam, Heasoo Koo, Young Bin Hong, Ki Wha Chung, Byung-Ok Choi J Clin Neurol.2015;11(1):92-96. Published online 2014 November 11 DOI: http://dx.doi.org/10.3988/jcn.2015.11.1.92

4	Neuropathic Pain Model of Peripheral Neuropathies Mediated by Mutations of Glycyl-tRNA Synthetase Seo Jin Lee, Ah Jung Seo, Byung Sun Park, Hyun Woo Jo, Youngbuhm Huh J Korean Med Sci.2014;29(8):1138-1144. Published online 2014 July 30 DOI: http://dx.doi.org/10.3346/jkms.2014.29.8.1138

5	A Case of Cauda Equina Syndrome in Early-Onset Chronic Inflammatory Demyelinating Polyneuropathy Clinically Similar to Charcot-Marie-Tooth Disease Type 1 Seung Eun Lee, Seung Won Park, Sam Yeol Ha, Taek Kyun Nam J Korean Neurosurg Soc.2014;55(6):370-374. Published online 2014 June 30 DOI: http://dx.doi.org/10.3340/jkns.2014.55.6.370

6	Bilateral Optic Neuropathy in Middle-Aged Woman Associated with Charcot Marie Tooth Disease Type 2A: A Case Report Yung Ju Yoo, Young Suk Yu, Seong Joon Kim J Korean Ophthalmol Soc.2014;55(4):628-632. Published online 2014 April 15 DOI: http://dx.doi.org/10.3341/jkos.2014.55.4.628

7	Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy Jin Park, Young Se Hyun, Ye Jin Kim, Soo Hyun Nam, Sung-hee Kim, Young Bin Hong, Jin-Mo Park, Ki Wha Chung, Byung-Ok Choi J Clin Neurol.2013;9(4):283-288. Published online 2013 October 31 DOI: http://dx.doi.org/10.3988/jcn.2013.9.4.283

8	Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication Young Hwa Kim, Hwa Kyung Chung, Kee Duk Park, Kyoung-Gyu Choi, Seung-Min Kim, Il-Nam Sunwoo, Young-Chul Choi, Jeong-Geun Lim, Kwang Woo Lee, Kwang-Kuk Kim, Dong Kuk Lee, In Soo Joo, Ki-Han Kwon, Seok Beom Gwon, Jae Hyeon Park, Dae-Seong Kim, Seung Hyun Kim, Woo-Kyung Kim, Bum Chun Suh, Sang-Beom Kim, Nam-Hee Kim, Eun Hee Sohn, Ok-Joon Kim, Hyun Sook Kim, Jung Hee Cho, Sa-Yoon Kang, Chan-Ik Park, Jiyoung Oh, Jong Hyu Shin, Ki Wha Chung, Byung-Ok Choi J Clin Neurol.2012;8(2):139-145. Published online 2012 June 29 DOI: http://dx.doi.org/10.3988/jcn.2012.8.2.139

9	Charcot-Marie-Tooth 1A Concurrent with Schwannomas of the Spinal Cord and Median Nerve Joo Young Kwon, Ki Wha Chung, Eun Kyung Park, Sun Wha Park, Byung-Ok Choi J Korean Med Sci.2009;24(4):763-766. Published online 2009 July 30 DOI: http://dx.doi.org/10.3346/jkms.2009.24.4.763

10	Rapid Detection of Duplication/Deletion of the PMP22 Gene in Patients with Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy with Liability to Pressure Palsy by Real-time Quantitative PCR using SYBR Green I Dye Sang Wun Kim, Kwang Soo Lee, Hyun Seok Jin, Tae Mi Lee, Soo Kyung Koo, Yong Jun Lee, Sung Chul Jung J Korean Med Sci.2003;18(5):727-732. Published online 2009 April 22 DOI: http://dx.doi.org/10.3346/jkms.2003.18.5.727

11	A Family Harboring CMT1A Duplication and HNPP Deletion Jung Hwa Lee, Hee Jin Kang, Hyunseok Song, Su Jin Hwang, Sun-Young Cho, Sang-Beom Kim, Joonki Kim, Ki Wha Chung, Byung-Ok Choi J Clin Neurol.2007;3(2):101-104. Published online 2007 June 20 DOI: http://dx.doi.org/10.3988/jcn.2007.3.2.101

12	Current Issues of the Charcot-Marie-Tooth Disease Byung-Ok Choi J Korean Med Assoc.2007;50(5):457-463. Published online 2007 May 31 DOI: http://dx.doi.org/10.5124/jkma.2007.50.5.457

13	Charcot-Marie-Tooth Disease: Seventeen Causative Genes Jung-Hwa Lee, Byung-Ok Choi J Clin Neurol.2006;2(2):92-106. Published online 2006 June 20 DOI: http://dx.doi.org/10.3988/jcn.2006.2.2.92