Byung Ok Choi

Summary

Affiliation: Ewha Womans University
Country: Korea

Publications

  1. pmc A Family Harboring CMT1A Duplication and HNPP Deletion
    Jung Hwa Lee
    Department of Neurology and Ewha Medical Research Center, Ewha Womans University, Seoul, Korea
    J Clin Neurol 3:101-4. 2007
  2. pmc Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication
    Young Hwa Kim
    Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea
    J Clin Neurol 8:139-45. 2012
  3. ncbi request reprint Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations
    K W Chung
    Department of Neurology and Ewha Medical Research Center, Ewha Woman s University, College of Medicine, Dongdaemun Hospital, 70 Jongno 6 ga, Jongno gu, 110 783, Seoul, Korea E mail
    Brain 129:2103-18. 2006
  4. doi request reprint MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis
    Byung Ok Choi
    Department of Neurology, Ewha Womans University School of Medicine, Yangcheon Ku, Seoul 158 710, Republic of Korea
    Int J Mol Med 28:389-96. 2011
  5. pmc A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease
    Young Bin Hong
    Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Ilwon Dong Gangnam Gu, Seoul 135 710, Korea
    BMC Med Genet 14:125. 2013
  6. ncbi request reprint Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients
    Byung Ok Choi
    Department of Neurology and Ewha Medical Research Center, Ewha Womans University College of Medicine, Seoul 110 783, Korea
    Hum Mutat 24:185-6. 2004
  7. pmc Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases
    Byung Ok Choi
    Department of Neurology, Ewha Womans University, School of Medicine, Ewha Medical Research Institute, Seoul, Korea
    Exp Mol Med 42:446-55. 2010
  8. ncbi request reprint Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families
    Byung Ok Choi
    Department of Neurology, Ewha Womans University College of Medicine, Seoul, South Korea
    J Hum Genet 52:280-3. 2007
  9. doi request reprint NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1
    Ji Soo Shin
    Department of Neurology and Ewha Medical Research Center, Ewha Womans University, Seoul, 158 710, South Korea
    J Hum Genet 53:936-40. 2008
  10. pmc Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
    Hyeon Jin Kim
    Department of Neurology, School of Medicine, Ewha Womans University, 911 1 MokDong, Yangcheon Ku, Seoul 158 710, Korea
    Orphanet J Rare Dis 8:104. 2013

Collaborators

Detail Information

Publications28

  1. pmc A Family Harboring CMT1A Duplication and HNPP Deletion
    Jung Hwa Lee
    Department of Neurology and Ewha Medical Research Center, Ewha Womans University, Seoul, Korea
    J Clin Neurol 3:101-4. 2007
    ..Although CMT1A and HNPP are associated with the same locus, there has been no report of these two mutations within a single family. We report a rare family harboring CMT1A duplication and HNPP deletion...
  2. pmc Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication
    Young Hwa Kim
    Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea
    J Clin Neurol 8:139-45. 2012
    ..In the present study, we investigated the correlations between the disease-related disabilities and the electrophysiological values in a large cohort of Korean CMT1A patients...
  3. ncbi request reprint Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations
    K W Chung
    Department of Neurology and Ewha Medical Research Center, Ewha Woman s University, College of Medicine, Dongdaemun Hospital, 70 Jongno 6 ga, Jongno gu, 110 783, Seoul, Korea E mail
    Brain 129:2103-18. 2006
    ..Phenotypes were significantly different in the early and late disease-onset groups. Our findings suggest that HMSN VI might be a variant of the early onset severe CMT2A phenotype...
  4. doi request reprint MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis
    Byung Ok Choi
    Department of Neurology, Ewha Womans University School of Medicine, Yangcheon Ku, Seoul 158 710, Republic of Korea
    Int J Mol Med 28:389-96. 2011
    ..In addition, this study demonstrated that the clinical phenotypes may be variable with different mutations at the same site in the MPZ gene...
  5. pmc A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease
    Young Bin Hong
    Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Ilwon Dong Gangnam Gu, Seoul 135 710, Korea
    BMC Med Genet 14:125. 2013
    ....
  6. ncbi request reprint Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients
    Byung Ok Choi
    Department of Neurology and Ewha Medical Research Center, Ewha Womans University College of Medicine, Seoul 110 783, Korea
    Hum Mutat 24:185-6. 2004
    ..We described the identified mutations and phenotype-genotype correlations based on nerve conduction studies...
  7. pmc Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases
    Byung Ok Choi
    Department of Neurology, Ewha Womans University, School of Medicine, Ewha Medical Research Institute, Seoul, Korea
    Exp Mol Med 42:446-55. 2010
    ..This study will be helpful for the molecular diagnosis of mitochondrial diseases, as well as establishment of mtDNA database in Koreans...
  8. ncbi request reprint Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families
    Byung Ok Choi
    Department of Neurology, Ewha Womans University College of Medicine, Seoul, South Korea
    J Hum Genet 52:280-3. 2007
    ..The M307I mutation is a novel mutation, located at the intracellular C-terminal domain, which is known to be concerned with putative phosphatidylinositol 4,5-bisphosphate (PIP(2)) binding and channel trafficking...
  9. doi request reprint NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1
    Ji Soo Shin
    Department of Neurology and Ewha Medical Research Center, Ewha Womans University, Seoul, 158 710, South Korea
    J Hum Genet 53:936-40. 2008
    ..It appears that the Pro22 mutations may influence not only the Thr-Pro phosphorylation site by proline-directed protein kinases but also other structural alteration of the NEFL protein in a different way...
  10. pmc Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
    Hyeon Jin Kim
    Department of Neurology, School of Medicine, Ewha Womans University, 911 1 MokDong, Yangcheon Ku, Seoul 158 710, Korea
    Orphanet J Rare Dis 8:104. 2013
    ..However, the PLEKHG5 mutation has not been described to cause Charcot-Marie-Tooth disease (CMT)...
  11. pmc A MELAS syndrome family harboring two mutations in mitochondrial genome
    Byung Ok Choi
    Department of Neurology and Ewha Medical Research Center, Ewha Womans University School of Medicine, Seoul, Korea
    Exp Mol Med 40:354-60. 2008
    ..This study also demonstrates the importance of full sequencing of mtDNA for the molecular genetic understanding of mitochondrial disorders...
  12. doi request reprint Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement
    Byung Ok Choi
    Department of Neurology, School of Medicine, Ewha Womans University, Seoul, South Korea
    Neurogenetics 12:51-8. 2011
    ..It seems that the exact mechanism of the nonrecurrent rearrangements in the CMT1A may have a far more complex process than has been expected...
  13. ncbi request reprint Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion
    Seung Min Kim
    Department of Neurology, College of Medicine, Yonsei University, Seoul 120 752, Korea
    Exp Mol Med 36:28-35. 2004
    ....
  14. doi request reprint Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene
    Sang Soo Lee
    Department of Neurology, Chungbuk National University School of Medicine, Chungbuk, Korea
    JAMA Neurol 70:607-15. 2013
    ..HMSN-P has been described only in Japanese descendants since 1997, and the causative gene has not been found...
  15. pmc A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14
    Byung Ok Choi
    Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea
    Hum Mutat 32:669-77. 2011
    ..Therefore, we suggest that the identified mutation in MYH14 significantly expands the phenotypic spectrum of this gene...
  16. doi request reprint A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement
    Jin Mo Park
    Department of Neurology, Ewha Womans University School of Medicine, Seoul, Republic of Korea
    Neuromuscul Disord 23:580-6. 2013
    ..Distal myopathy like LDM showed marked and predominant fatty infiltrations in paraspinal or proximal leg muscles with marked asymmetry. These observations expand the clinical spectrum of LDM with the MYH7 mutation...
  17. doi request reprint Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease
    Byung Ok Choi
    Department of Neurology, Ewha Womans University, School of Medicine, Seoul, Korea
    Hum Mutat 33:1610-5. 2012
    ..Therefore, this study suggests that the exome sequencing can be a highly exact, rapid, and economical molecular diagnostic tool for CMT patients who are tested for major genetic causes...
  18. doi request reprint Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy
    Hyun Sook Kim
    Department of Neurology, CHA University School of Medicine, Sungnam, Korea
    Neurogenetics 11:425-33. 2010
    ..Physical disabilities were more severe than seen with either DM1 or CMTX1 alone. In addition, the present case reveals an asymmetric atrophy (22%) of the right calf muscle compared to the left side...
  19. doi request reprint Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica
    Ho Jin Kim
    Department of Neurology, National Cancer Center, Gyeonggi Do, Korea
    Neurobiol Dis 37:349-55. 2010
    ..01 vs. OR=0.12/P=0.0004, respectively). The associations which were only observed in patients with NMO suggest that there are differences in the genetic etiology of the inflammatory demyelinating diseases (NMO, classical MS, and IRTM)...
  20. doi request reprint Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
    Bum Chun Suh
    Department of Neurology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
    Mol Med Rep 8:17-22. 2013
    ..The patient demonstrated an early-onset but mild phenotype, with 9.6% TP activity; therefore, patients with these compound heterozygous mutations may exhibit a mild phenotype with a variable onset age according to TP activity level...
  21. pmc Clinical and genetic aspects in twelve korean patients with adrenomyeloneuropathy
    Hyung Jun Park
    Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea Department of Neurology, Yonsei University College of Medicine, Seoul, Korea
    Yonsei Med J 55:676-82. 2014
    ..This study was designed to investigate the characteristics of Korean adrenomyeloneuropathy (AMN) patients...
  22. pmc Charcot-Marie-Tooth 1A concurrent with schwannomas of the spinal cord and median nerve
    Joo Young Kwon
    Department of Neurology, Ewha Womans University, School of Medicine, Seoul, Korea
    J Korean Med Sci 24:763-6. 2009
    ....
  23. pmc Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)
    Hee Jin Kim
    Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gangnam Gu, Seoul, Korea
    Am J Hum Genet 81:552-8. 2007
    ....
  24. ncbi request reprint Intracerebral hemorrhage-induced brain injury is aggravated in senescence-accelerated prone mice
    Jae Chul Lee
    Division of Nano Sciences, Department of Pharmacology, College of Medicine, Ewha Women s University, Seoul, Republic of Korea
    Stroke 37:216-22. 2006
    ..We therefore investigated aging-related changes in brain tissue damage and immune response in response to intracerebral hemorrhage (ICH) in mice...
  25. doi request reprint Tonsil-derived mesenchymal stromal cells: evaluation of biologic, immunologic and genetic factors for successful banking
    Kyung Ha Ryu
    Department of Pediatrics, School of Medicine, Ewha Womans University, Seoul, Korea
    Cytotherapy 14:1193-202. 2012
    ..Although mesenchymal stromal cells (MSC) from human palatine tonsils (tonsillar MSC, T-MSC) have been isolated, whether T-MSC isolated from multiple donors are feasible for cell banking has not been studied...
  26. pmc Ciclopirox protects mitochondria from hydrogen peroxide toxicity
    Sun J Lee
    Department of Pharmacology, College of Medicine, Ewha Institute of Neuroscience, Tongdaemoon Hospital, Ewha Womans University, 70 ChongRo 6 Ga, Chongroku, Seoul 110 783, Republic of Korea
    Br J Pharmacol 145:469-76. 2005
    ..Consistent with this, CPX replenished ATP levels lowered by H2O2. 6 The present results indicate that CPX protects SK-HEP-1 cells from H2O2 cytotoxicity by inhibiting Deltapsim decrease and indirectly preventing MPTP opening...
  27. doi request reprint Congestive heart failure after physical exercise in a young patient with myotonic dystrophy type 1
    Suk Yun Kang
    Department of Neurology, Hallym University College of Medicine, Seoul, Republic of Korea
    Int J Neurosci 121:637-9. 2011
    ..Other possible mechanisms will be discussed. Comprehensive cardiac evaluation might be helpful to identifying high-risk patients early to prevent cardiac complications, even without cardiac symptoms...