(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
특허/프로그램
샤르코-마리-투스병 진단용 마커 및 그의 용도(Marker for diagnosing Charcot-Marie-Tooth disease and use thereof).
10-1967-8800000.
20190404.
대한민국
샤르코-마리-투스병 진단용 마커 및 그의 용도(Marker for diagnosing Charcot-Marie-Tooth disease and use thereof).
10-1967-8810000.
20190404.
대한민국
샤르코-마리-투스 질환 진단용 키트(Kit for Diagnosing Charcot-Marie-Tooth).
10-1929-1640000.
20181207.
대한민국
샤르코-마리-투스 질환 진단용 키트(Kit for Diagnosing Charcot-Marie-Tooth).
10-1929-1650000.
20181207.
대한민국
샤르코-마리-투스 질환 진단용 키트(Kit for Diagnosing Charcot-Marie-Tooth).
10-1896-1470000.
20181207.
대한민국
샤르코-마리-투스 질환 진단용 키트(Kit for Diagnosing Charcot-Marie-Tooth).
10-1929-1650000.
20181207.
대한민국
샤르코-마리-투스 질환 진단용 키트(Kit for Diagnosing Charcot-Marie-Tooth).
10-1929-1640000.
20181207.
대한민국
샤르코-마리-투스 질환 진단용 키트(Kit for Diagnosing Charcot-Marie-Tooth).
10-1929-1630000.
20181207.
대한민국
샤르코-마리-투스 질환 진단용 키트(Kit for Diagnosing Charcot-Marie-Tooth).
10-1921-0270000.
20181115.
대한민국
ADSSL1 유전자 결핍 돌연변이 제브라피쉬 및 이의 용도.
10-2016-0006544.
20181107.
대한민국
샤르코 마리 투스병 치료용 약학 조성물(Pharmaceutical Composition for treating Charcot Marie Tooth disease).
10-1872105-0000.
20181106.
미국
샤르코-마리-투스 질환 진단용 키트{Kit for Diagnosing Charcot-Marie-
Tooth}.
10-2015-0167973.
20180831.
대한민국
샤르코 마리 투스병 치료용 약학 조성물(Pharmaceutical Composition for treating Charcot Marie Tooth disease).
10-1872-1050000.
20180621.
대한민국
시신경위축 또는 감각운동신경병증의 원인 유전자로서 OPA1 및 이를 이용한 상기 질병의 진단 방법.
10-2016-0143418.
20180604.
대한민국
원위 근육병의 진단용 바이오 마커 및 이의 용도{Biomarkers for Diagnosing
Distal Myopathy and Uses Thereof}.
10-2015-0169203.
20180525.
대한민국
샤르코-마리-투스병 제2형의 원인 유전자로서 MORC2 및 이를 이용한 상기 질병의 진단방법.
10-2016-0143417.
20180411.
대한민국
HSP27변이(S135F)매개의 샤르코-마리-투스 질환 동물 모델.
14/873,119.
20171212.
미국
편도 유래 중간엽 줄기세포로부터 근육 세포의 분화방법.
10-1717402.
20170310.
대한민국
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.
대한민국
ＨＳＰ２７ 변이(Ｓ１３５Ｆ) 매개의 샤르코-마리-투스 질환 동물모델(Animal model for HSP27 mutation(S135F)-mediated Charcot-Marie-Tooth disease).
PCT/KR2014/002795.
20160421.
대한민국
수상/공훈
(2014) 연구자상 수상
(2014) 보건복지부 장관상 (우수연구자 부문) 수상
(2014) 대한의학유전학회
(2012) 국제학회 (ICNMD
(2012) International Congress on Neuromuscular Disorder)
(2010) 우수발표상 수상
(2008) 우수논문상 수상
(2008) 대한근전도전기진단의학회
(2007) 대한치매학회
(2006) 대한신경과학회
(2006) 우수발표상 수상
(2005) 젊은연구자상 수상
(2004) International Society of Hematology)
(2002) 국제학회 (ISH)
학술회의논문
(2031)
The Clinical and Electrophysiological Findings in Korean Patients with Charcot-Marie-Tooth X 1.
2013 대한퇴행성신경질환학회 추계학술대회.
대한민국
(2020)
Different neuroimaging findings in a cohort of CMT patients with GDAP1 mutations.
대한퇴행성신경질환학회.
대한민국
(2020)
Identification of the therapeutic potency and selectivity of a novel HDAC6 inhibitor for CMT1A in a mouse model.
대한퇴행성신경질환학회.
대한민국
(2020)
Phenotypic characteristics of Int-CMT patients with AARS1 gene mutation.
대한퇴행성신경질환학회.
대한민국
(2020)
A novel HDAC6 inhibitor ameliorates the clinical phenotype in a mouse model of Charcot-Marie-Tooth disease type 1A.
대한신경근육질환학회.
대한민국
(2020)
Gait improvement by inhibition of Myostatin in a mouse model of Charcot-Marie-Tooth type 1A.
대한신경근육질환학회.
대한민국
(2020)
A novel HDAC6 inhibitor ameliorates the clinical phenotype in a mouse model of Charcot-Marie-Tooth disease type 1A.
대한신경과추계학술대회.
대한민국
(2020)
Clinical and neuroimaging findings in a cohort of Korean Charcot-Marie-Tooth patients with GDAP1 mutations.
대한신경과추계학술대회.
대한민국
(2020)
Gait improvement by inhibition of Myostatin in a mouse model of Charcot-Marie-Tooth type 1A.
대한신경과추계학술대회.
대한민국
(2020)
Intermediate Charcot-Marie-Tooth patients with Alanyl-tRNA synthetase 1 (AARS1) gene mutation.
대한신경과추계학술대회.
대한민국
(2020)
Specific characteristics in Korean patients with de novo PMP22 duplications.
대한신경과추계학술대회.
대한민국
(2020)
Inhibition of Myostatin as a Potential Treatment for Demyelinating Peripheral Neuropathy.
ICGSK 2020.
대한민국
(2020)
Phenotypic Characterization of Charcot-Marie-Tooth Disease Patients with GDAP1 Mutations.
ICGSK 2020.
대한민국
(2020)
Clinical and neuroimaging findings of patients with Charcot-Marie-Tooth disease harboring AARS1 gene mutations.
KSBNS 2020.
대한민국
(2020)
Clinical characterization in de novo Charcot-Marie-Tooth 1A patients with 17p12 duplication.
KSBNS 2020.
대한민국
(2020)
Evaluation of the therapeutic potential of a novel HDAC6 inhibitor in a mouse model of Charcot-Marie-Tooth disease type 1A.
KSBNS 2020.
대한민국
(2019)
A novel mutation of PHKA1 in Korean family with X-linked glycogen storage disease type IXD.
한국통합생물학회.
대한민국
(2019)
A proof-of-concept of CMT1A therapy with CRISPR/Cas9 using Schwann cell differentiation of patient-derived iPSCs and mouse model.
한국통합생물학회.
대한민국
(2019)
Establishment of motor and sensory nerve conduction study methods on wild type and CMT1A model mouse.
한국통합생물학회.
대한민국
(2019)
phenotypic characterization of autosmal recessive Charcot-Marie-Tooth disease type 4C with SH3TC2 mutations.
한국통합생물학회.
대한민국
