연구동향 분석

Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

최영철 이정환 박형준 성문우 박성섭 2021년

논문상세정보
인용/피인용
' Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • Facioscapulohumeral muscular dystrophy
  • dna methylation
  • high-throughput nucleotide sequencing
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
120 0

0.0%

' Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea' 의 참고문헌

  • 얼굴어깨위팔근육디스트로피의 임상적 특징과 유전학적 분석
    홍지만 [2009]
  • The FSHD2 gene SMCHD1 Is a modifier of disease severity in families affected by FSHD1
    Sacconi S [2013]
  • Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    Richards S [2015]
  • Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1
    Park HJ [2015]
  • Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1and FSHD2
    Lemmers RJ [2015]
  • Facioscapulohumeral muscular dystrophy : update on pathogenesis and future treatments
    Hamel J [2018]
  • Facioscapulohumeral muscular dystrophy
    Sacconi S [2015]
  • Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2(FSHD2)patients with SMCHD1 mutations
    Hamanaka K [2016]
  • Clinical and Genetic Analysis of Korean Patients with Facioscapulohumeral Muscular Dystrophy
    기창석 [2008]