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Volumn , Issue , 2010, Pages

Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy

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Indexed keywords


EID: 84858447802     PISSN: None     EISSN: 1757790X     Source Type: Journal    
DOI: 10.1136/bcr.01.2010.2604     Document Type: Article
Times cited : (5)

References (9)
  • 1
    • 0024601360 scopus 로고
    • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
    • DOI 10.1038/339309a0
    • Zeviani M, Servidei S, Gellera C, et al. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989; 339: 309-11. [CrossRef] [Medline] (Pubitemid 19130698)
    • (1989) Nature , vol.339 , Issue.6222 , pp. 309-311
    • Zeviani, M.1    Servidei, S.2    Gellera, C.3    Bertini, E.4    DiMauro, S.5    DiDonato, S.6
  • 2
    • 0034943967 scopus 로고    scopus 로고
    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    • DOI 10.1038/90034
    • Van Goethem G, Dermaut B, Löfgren A, et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001; 28: 211-12. [CrossRef] [Medline] [Web of Science] (Pubitemid 32626018)
    • (2001) Nature Genetics , vol.28 , Issue.3 , pp. 211-212
    • Van Goethem, G.1    Dermaut, B.2    Lofgren, A.3    Martin, J.-J.4    Van Broeckhoven, C.5
  • 4
    • 33749001168 scopus 로고    scopus 로고
    • Mitochondrial DNA polymerase-gamma and human disease
    • DOI 10.1093/hmg/ddl233
    • Hudson G, Chinnery PF. Mitochondrial DNA polymerase-gamma and human disease. Hum Mol Genet 2006; 15: R244-52. [Abstract/FREE Full text] (Pubitemid 44446800)
    • (2006) Human Molecular Genetics , vol.15 , Issue.SUPPL. 2
    • Hudson, G.1    Chinnery, P.F.2
  • 6
    • 57849140614 scopus 로고    scopus 로고
    • Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
    • [CrossRef] [Medline]
    • Wong LJ, Naviaux RK, Brunetti-Pierri N, et al. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 2008; 29: E150-72. [CrossRef] [Medline]
    • (2008) Hum Mutat , vol.29
    • Wong, L.J.1    Naviaux, R.K.2    Brunetti-Pierri, N.3
  • 9
    • 41549151612 scopus 로고    scopus 로고
    • 155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands
    • [CrossRef] [Medline]
    • Chinnery PF, Zeviani M. 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscul Disord 2008; 18: 259-67 [CrossRef] [Medline]
    • (2008) Neuromuscul Disord , vol.18 , pp. 259-267
    • Chinnery, P.F.1    Zeviani, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.