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Showing results 1 to 30 of 75

Issue DateTitleAuthor(s)Type
2006A complex peripheral neuropathy family harboring CMT1A duplication and HNPP deletion최병옥Meeting Abstract
2011A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14최경규; 구혜수; 박기덕; 유정현; 최병옥Article
2007A family harboring CMT1A duplication and HNPP deletion최병옥Article
2008A MELAS syndrome family harboring two mutations in mitochondrial genome최병옥; 이향운Article
2008A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease최경규; 박기덕; 최병옥Article
2011A novel Gly137Asp MPZ mutation in a Charcot-Marie-Tooth disease type 1B family최병옥Article
2013A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L구혜수; 유정현; 최병옥Article
2013A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement구혜수; 유정현; 최병옥; 홍영빈Article
2012A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: Clinical, neuroimaging, and neuropathological findings최병옥Article
2016ABERRANT NEUROPILIN 1 INTERACTION AS A BIOMARKER IN DIAGNOSING TRNA SYNTHETASE-LINKED CHARCOT-MARIE-TOOTH DISEASE최병옥Meeting Abstract
2009Aging exacerbates intracerebral hemorrhage-induced brain injury최병옥Article
2006Analysis of androgen receptor gene by capillary gel eelectrophoresis최병옥Article
2006Analysis of Korean infertile males by PDMS microchip gel electrophoresis최병옥Article
2011Cell-based quantification of homocysteine utilizing bioluminescent Escherichia coli auxotrophs최병옥Article
2017Cerebral white matter abnormalities in patients with charcot-marie-tooth disease유정현; 최병옥; 이향운; 홍영빈; 박창현Article
2009Charcot-Marie-Tooth 1A concurrent with schwannomas of the spinal cord and median nerve최병옥Article
2004Charcot-Marie-Tooth 환자에서 GJB1, EGR2, NEFL 유전자 돌연변이 및 임상적, 전기생리학적, 병리학적 특성 분석趙賢智Master's Thesis
2005Ciclopirox protects mitochondria from hydrogen peroxide toxicity김원기; 김희선; 최병옥Article
2013Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2최경규; 구혜수; 박기덕; 최병옥Article
2009Clinical phenotypes and electrophysiological findings in Korean CMT1A patients with 17p11.2-p12 duplication황수진Master's Thesis
2010Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica최병옥; 조인호Article
2012Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication최경규; 박기덕; 최병옥Article
2012Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication (vol 8, pg 139, 2012)최경규; 박기덕; 최병옥; 김영화Correction
2013Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)최병옥Article
2011Compound mutations of PEO1 and TYMP in a progressive external ophthalmoplegia patient with incomplete mitochondrial neurogastrointestinal encephalomyopathy phenotype최병옥Article
2011Congestive heart failure after physical exercise in a young patient with myotonic dystrophy type 1최병옥Article
2009Connexin 32 유전자 돌연변이를 가진 샤르코-마리-투스 환자들의 임상적 특성 및 전기 생리학적 특성 분석유수연Master's Thesis
2009Development of a Y-STR 12-plex PCR system and haplotype analysis in a Korean population최병옥Article
2008Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A최경규; 박기덕; 유정현; 최병옥Article
2008Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation유정현; 최병옥Article

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