School of Medicine - Medicine

  • Professor
  • CHOI, BYUNGOK

Journal Articles

  • (2023)  PINK1 and Parkin rescue motor defects and mitochondria dysfunction induced by a patient-derived HSPB3 mutant in Drosophila models.  BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS.  682, 
  • (2023)  An on-demand bioresorbable neurostimulator.  NATURE COMMUNICATIONS.  14,  1
  • (2023)  Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.  BRAIN COMMUNICATIONS.  5,  3
  • (2023)  PINK1 and Parkin Ameliorate the Loss of Motor Activity and Mitochondrial Dysfunction Induced by Peripheral Neuropathy-Associated HSPB8 Mutants in Drosophila Models.  BIOMEDICINES.  11,  3
  • (2022)  Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.  GENES.  13,  7
  • (2022)  Cytokines secreted by mesenchymal stem cells reduce demyelination in an animal model of Charcot-Marie-Tooth disease.  BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS.  597, 
  • (2022)  Virus blocking textile for SARS-CoV-2 using human body triboelectric energy harvesting.  CELL REPORTS PHYSICAL SCIENCE.  3,  4
  • (2022)  Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea.  GENES.  13,  3
  • (2022)  HDAC6 Inhibition Corrects Electrophysiological and Axonal Transport Deficits in a Human Stem Cell-Based Model of Charcot-Marie-Tooth Disease (Type 2D).  ADVANCED BIOLOGY.  6,  2
  • (2021)  Farnesol ameliorates demyelinating phenotype in a cellular and animal model of charcot-marie-tooth disease type 1a.  CURRENT ISSUES IN MOLECULAR BIOLOGY.  43,  3
  • (2021)  Intraepineurial fat quantification and cross-sectional area analysis of the sciatic nerve using MRI in Charcot-Marie-Tooth disease type 1A patients.  SCIENTIFIC REPORTS.  11,  1
  • (2021)  Cerebellar white matter abnormalities in charcot–marie–tooth disease: A combined volumetry and diffusion tensor imaging analysis.  JOURNAL OF CLINICAL MEDICINE.  10,  21
  • (2021)  Human Induced Pluripotent Stem Cell-Derived TDP-43 Mutant Neurons Exhibit Consistent Functional Phenotypes Across Multiple Gene Edited Lines Despite Transcriptomic and Splicing Discrepancies.  FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY.  9, 
  • (2021)  Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.  BMC MEDICAL GENOMICS.  14,  1
  • (2021)  Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GNB4 Mutations.  LIFE-BASEL.  11,  6
  • (2021)  Texture analysis using T1-weighted images for muscles in Charcot-Marie-Tooth disease patients and volunteers.  EUROPEAN RADIOLOGY.  1,  1
  • (2020)  Short hairpin RNA treatment improves gait in a mouse model of Charcot-Marie-Tooth disease type 1A.  MOLECULAR MEDICINE REPORTS.  22,  6
  • (2020)  Wearable hip-assist robot modulates cortical activation during gait in stroke patients: a functional near-infrared spectroscopy study.  JOURNAL OF NEUROENGINEERING AND REHABILITATION.  17,  1
  • (2020)  Fibulin 5, a human Wharton's jelly-derived mesenchymal stem cells-secreted paracrine factor, attenuates peripheral nervous system myelination defects through the Integrin-RAC1 signaling axis.  STEM CELLS.  38,  12
  • (2020)  Psychoacoustics and neurophysiological auditory processing in patients with Charcot-Marie-Tooth disease types 1A and 2A.  EUROPEAN JOURNAL OF NEUROLOGY.  27,  10

Patent/Intellectual Property

  • 샤르코-마리-투스병 진단용 마커 및 그의 용도(Marker for diagnosing Charcot-Marie-Tooth disease and use thereof).  10-1967-8800000.  20190404.  KOREA, REPUBLIC OF
  • 샤르코-마리-투스병 진단용 마커 및 그의 용도(Marker for diagnosing Charcot-Marie-Tooth disease and use thereof).  10-1967-8810000.  20190404.  KOREA, REPUBLIC OF
  • 샤르코-마리-투스 질환 진단용 키트(Kit for Diagnosing Charcot-Marie-Tooth).  10-1929-1640000.  20181207.  KOREA, REPUBLIC OF
  • 샤르코-마리-투스 질환 진단용 키트(Kit for Diagnosing Charcot-Marie-Tooth).  10-1929-1650000.  20181207.  KOREA, REPUBLIC OF
  • 샤르코-마리-투스 질환 진단용 키트(Kit for Diagnosing Charcot-Marie-Tooth).  10-1896-1470000.  20181207.  KOREA, REPUBLIC OF
  • 샤르코-마리-투스 질환 진단용 키트(Kit for Diagnosing Charcot-Marie-Tooth).  10-1929-1650000.  20181207.  KOREA, REPUBLIC OF
  • 샤르코-마리-투스 질환 진단용 키트(Kit for Diagnosing Charcot-Marie-Tooth).  10-1929-1640000.  20181207.  KOREA, REPUBLIC OF
  • 샤르코-마리-투스 질환 진단용 키트(Kit for Diagnosing Charcot-Marie-Tooth).  10-1929-1630000.  20181207.  KOREA, REPUBLIC OF
  • 샤르코-마리-투스 질환 진단용 키트(Kit for Diagnosing Charcot-Marie-Tooth).  10-1921-0270000.  20181115.  KOREA, REPUBLIC OF
  • ADSSL1 유전자 결핍 돌연변이 제브라피쉬 및 이의 용도.  10-2016-0006544.  20181107.  KOREA, REPUBLIC OF
  • 샤르코 마리 투스병 치료용 약학 조성물(Pharmaceutical Composition for treating Charcot Marie Tooth disease).  10-1872105-0000.  20181106.  UNITED STATES
  • 샤르코-마리-투스 질환 진단용 키트{Kit for Diagnosing Charcot-Marie- Tooth}.  10-2015-0167973.  20180831.  KOREA, REPUBLIC OF
  • 샤르코 마리 투스병 치료용 약학 조성물(Pharmaceutical Composition for treating Charcot Marie Tooth disease).  10-1872-1050000.  20180621.  KOREA, REPUBLIC OF
  • 시신경위축 또는 감각운동신경병증의 원인 유전자로서 OPA1 및 이를 이용한 상기 질병의 진단 방법.  10-2016-0143418.  20180604.  KOREA, REPUBLIC OF
  • 원위 근육병의 진단용 바이오 마커 및 이의 용도{Biomarkers for Diagnosing Distal Myopathy and Uses Thereof}.  10-2015-0169203.  20180525.  KOREA, REPUBLIC OF
  • 샤르코-마리-투스병 제2형의 원인 유전자로서 MORC2 및 이를 이용한 상기 질병의 진단방법.  10-2016-0143417.  20180411.  KOREA, REPUBLIC OF
  • HSP27변이(S135F)매개의 샤르코-마리-투스 질환 동물 모델.  14/873,119.  20171212.  UNITED STATES
  • 편도 유래 중간엽 줄기세포로부터 근육 세포의 분화방법.  10-1717402.  20170310.  KOREA, REPUBLIC OF
  • 편도 유래 중간엽 줄기세포로부터 슈반 세포의 분화 방법 {A METHOD FOR DIFFERENTIATION OF TONSIL-DERIVED MESENCHYMAL STEM CELL INTO SCHWANN CELLS}.  10-2015-0003572.  20161207.  KOREA, REPUBLIC OF
  • HSP27 변이(S135F) 매개의 샤르코-마리-투스 질환 동물모델(Animal model for HSP27 mutation(S135F)-mediated Charcot-Marie-Tooth disease).  PCT/KR2014/002795.  20160421.  KOREA, REPUBLIC OF

Conference Paper

  • (2031)  The Clinical and Electrophysiological Findings in Korean Patients with Charcot-Marie-Tooth X 1.  2013 대한퇴행성신경질환학회 추계학술대회.  KOREA, REPUBLIC OF
  • (2020)  Different neuroimaging findings in a cohort of CMT patients with GDAP1 mutations.  대한퇴행성신경질환학회.  KOREA, REPUBLIC OF
  • (2020)  Identification of the therapeutic potency and selectivity of a novel HDAC6 inhibitor for CMT1A in a mouse model.  대한퇴행성신경질환학회.  KOREA, REPUBLIC OF
  • (2020)  Phenotypic characteristics of Int-CMT patients with AARS1 gene mutation.  대한퇴행성신경질환학회.  KOREA, REPUBLIC OF
  • (2020)  A novel HDAC6 inhibitor ameliorates the clinical phenotype in a mouse model of Charcot-Marie-Tooth disease type 1A.  대한신경근육질환학회.  KOREA, REPUBLIC OF
  • (2020)  Gait improvement by inhibition of Myostatin in a mouse model of Charcot-Marie-Tooth type 1A.  대한신경근육질환학회.  KOREA, REPUBLIC OF
  • (2020)  A novel HDAC6 inhibitor ameliorates the clinical phenotype in a mouse model of Charcot-Marie-Tooth disease type 1A.  대한신경과추계학술대회.  KOREA, REPUBLIC OF
  • (2020)  Clinical and neuroimaging findings in a cohort of Korean Charcot-Marie-Tooth patients with GDAP1 mutations.  대한신경과추계학술대회.  KOREA, REPUBLIC OF
  • (2020)  Gait improvement by inhibition of Myostatin in a mouse model of Charcot-Marie-Tooth type 1A.  대한신경과추계학술대회.  KOREA, REPUBLIC OF
  • (2020)  Intermediate Charcot-Marie-Tooth patients with Alanyl-tRNA synthetase 1 (AARS1) gene mutation.  대한신경과추계학술대회.  KOREA, REPUBLIC OF
  • (2020)  Specific characteristics in Korean patients with de novo PMP22 duplications.  대한신경과추계학술대회.  KOREA, REPUBLIC OF
  • (2020)  Inhibition of Myostatin as a Potential Treatment for Demyelinating Peripheral Neuropathy.  ICGSK 2020.  KOREA, REPUBLIC OF
  • (2020)  Phenotypic Characterization of Charcot-Marie-Tooth Disease Patients with GDAP1 Mutations.  ICGSK 2020.  KOREA, REPUBLIC OF
  • (2020)  Clinical and neuroimaging findings of patients with Charcot-Marie-Tooth disease harboring AARS1 gene mutations.  KSBNS 2020.  KOREA, REPUBLIC OF
  • (2020)  Clinical characterization in de novo Charcot-Marie-Tooth 1A patients with 17p12 duplication.  KSBNS 2020.  KOREA, REPUBLIC OF
  • (2020)  Evaluation of the therapeutic potential of a novel HDAC6 inhibitor in a mouse model of Charcot-Marie-Tooth disease type 1A.  KSBNS 2020.  KOREA, REPUBLIC OF
  • (2019)  A novel mutation of PHKA1 in Korean family with X-linked glycogen storage disease type IXD.  한국통합생물학회.  KOREA, REPUBLIC OF
  • (2019)  A proof-of-concept of CMT1A therapy with CRISPR/Cas9 using Schwann cell differentiation of patient-derived iPSCs and mouse model.  한국통합생물학회.  KOREA, REPUBLIC OF
  • (2019)  Establishment of motor and sensory nerve conduction study methods on wild type and CMT1A model mouse.  한국통합생물학회.  KOREA, REPUBLIC OF
  • (2019)  phenotypic characterization of autosmal recessive Charcot-Marie-Tooth disease type 4C with SH3TC2 mutations.  한국통합생물학회.  KOREA, REPUBLIC OF