바로가기
메인메뉴로 바로가기
콘텐츠 바로가기
하단메뉴로 바로가기
패밀리사이트 바로가기


소속

  • 신경과학교실

직위

  • 임상연구조교수

연구실 위치

전화/팩스

  • 02-2019-2376 /

학력사항

  • 연세대학교 의과대학 학사(2000-2006)

연구,관심분야

  • 신경근육질환의 유전학, 전기생리학, 면역학

논문

  • Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy
    NEUROMUSCULAR DISORDERS 25/6 :502-510,2015
  • Clinical and Genetic Characterization of Female Dystrophinopathy
    JOURNAL OF CLINICAL NEUROLOGY 11/3 :248-251,2015
  • Low D4Z4 copy number and gender difference in korean patients with facioscapulohumeral muscular dystrophy type 1
    NEUROMUSCULAR DISORDERS 25/11 :859-864,2015
  • Serum interleukin-27 expression in patients with myasthenia gravis.
    JOURNAL OF NEUROIMMUNOLOGY 288/- :120-122,2015
  • Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations
    YONSEI MEDICAL JOURNAL 57/1 :173-179,2016
  • First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy
    JOURNAL OF CLINICAL NEUROLOGY 12/1 :121-122,2016
  • 전 척추옆근육위축을 동반한 몸통굽힘증
    대한신경근육질환학회지 8/1 :50-52,2016
  • 횡문근융해증의 이해
    대한신경근육질환학회지 8/1 :22-27,2016
  • Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene
    JOURNAL OF CLINICAL NEUROLOGY 13/1 :116-118,2017
  • Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders
    CLINICAL GENETICS 91/3 :403-410,2017
  • Distal myopathy with ADSSL1 mutations in Korean patients
    NEUROMUSCULAR DISORDERS 27/ :465-472,2017
  • Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy
    ANNALS OF LABORATORY MEDICINE 37/4 :359-361,2017
  • Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population
    NEUROMUSCULAR DISORDERS 27/6 :550-556,2017

이정환

콘텐츠 처음으로 이동

네크워크 링크안내/사이트 정보