Browsing by Author 정성철

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Showing results 1 to 30 of 85

Issue DateTitleAuthor(s)Type
2014A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients정성철Article in Press
2013A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease구혜수; 유정현; 정성철Article
2015A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy구혜수; 우소연; 정성철; 박형준Article
2016ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy유정현; 정성철; 박형준Article
2008ALTERATION OF GENE EXPRESSION RELATED TO CARBOHYDRATE METABOLISM IN PLACENTA OF FETUS WITH INTRAUTERINE GROWTH RESTRICTION전선희; 김영주; 박미혜; 정성철Meeting Abstract
2009Alterations in transthyretin gene expression and its transcriptional regulation in a mouse model of phenylketonuria박주원Doctoral Thesis
2009Altered brain gene expression profiles associated with the pathogenesis of phenylketonuria in a mouse model박혜영; 정성철; 박주원Article
2018Application of differentiated human tonsil-derived stem cells to trembler-J mice정성철Article
2014Application of variant-calling algorithms for Mendelian disorders: Lessons from whole-exome sequencing in charcot-marie-tooth disease정성철Letter
2018Association of miR-149 polymorphism with onset age and severity in Charcot–Marie–Tooth disease type 1A정성철Article
2017Autophagy induction in the skeletal myogenic differentiation of human tonsil-derived mesenchymal stem cells정성철; 조인호; 안정혁; 유연실; 박세영Article
2017Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH정성철Article
2015CCN1 secreted by tonsil-derived mesenchymal stem cells promotes endothelial cell angiogenesis via integrin αvβ3 and AMPK유경하; 정성애; 김한수; 정성철; 조인호; 박윤신; 유연실Article
2015Characterisation of insulin-producing cells differentiated from tonsil derived mesenchymal stem cells유경하; 우소연; 김한수; 정성철; 조인호; 박주원Article
2010Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy정성철; 박은숙Article
2010Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer박혜영; 정성철Article
2014Characterization of long-term in vitro culture-related alterations of human tonsil-derived mesenchymal stem cells: Role for CCN1 in replicative senescence-associated increase in osteogenic differentiation유경하; 김한수; 정성철; 조인호; 박윤신; 유연실Article in Press
2011Clinical and allelic heterogeneity in hypochondroplasia producing phenotypic overlaps with achondroplasia정성철; 조인호Meeting Abstract
2010COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype정성철Article
2014Comparison of Gene expression Profiles in kidney cells and tissues related to Fabry disease신윤정Doctoral Thesis
2007Development of prenatal genetic screening test using fetal cells in maternal blood김영주; 정성철Meeting Abstract
2016DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease구혜수; 정성철Article
2015Differentiated tonsil-derived mesenchymal stem cells embedded in Matrigel restore parathyroid cell functions in rats with parathyroidectomy유경하; 김한수; 정성철; 한기환; 조인호; 박윤신; 유연실Article
2018Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A정성철; 박세영Article
2017Differentiation of Tonsil-Derived Mesenchymal Stem Cells into Schwann Cells정남희Doctoral Thesis
2006Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease; implications for neuronal loss in Gaucher disease정성철Article
2006Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease; implications for neuronal loss in Gaucher disease정성철Article
2010Efficacy of recombinant adeno-associated virus 2/8-mediated gene transfer in Fabry mice최진옥Doctoral Thesis
2014Elucidation of pathogenic mechanisms for Fabry disease by transcriptome analysis정성철Meeting Abstract
2013Enhanced sialylation and in vivo efficacy of recombinant human α-galactosidase through in vitro glycosylation정성철Article

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