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Volumn 14, Issue 3, 2001, Pages 547-568

Hereditary optic neuropathies

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; FAMILIAL DISEASE; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; NEUROLOGIC DISEASE; OPTIC NERVE DISEASE; PRIORITY JOURNAL; REVIEW;

EID: 0034761702     PISSN: 08961549     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0896-1549(05)70252-2     Document Type: Article
Times cited : (13)

References (99)
  • 1
    • 0031044375 scopus 로고    scopus 로고
    • Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene
    • (1997) Arch Ophthalmol , vol.115 , pp. 231-236
    • Abe, T.1    Abe, K.2    Aoki, M.3
  • 16
    • 0033137153 scopus 로고    scopus 로고
    • The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy
    • (1999) J Neurol Sci , vol.165 , pp. 1-5
    • Brown, M.D.1
  • 18
    • 0018696862 scopus 로고
    • Leber's optic neuropathy. A clinical and visual evoked potential study of affected and asymptomatic members of a six generation family
    • (1979) Brain , vol.102 , pp. 559
    • Carroll, W.M.1    Mastaglia, F.L.2
  • 31
  • 34
    • 0025897119 scopus 로고
    • Leber hereditary optic neuropathy: Involvement of the mitochondrial ND 1 gene and evidence for an intragenic suppressor mutation
    • (1991) Am J Hum Genet , vol.48 , pp. 935-942
    • Howell, N.1    Kubacka, I.2    Xu, M.3
  • 35
    • 0018889212 scopus 로고
    • Autosomal dominant optic atrophy: A spectrum of disability
    • (1980) Ophthalmology , vol.87 , pp. 245-251
    • Hoyt, C.S.1
  • 47
  • 55
    • 0028908634 scopus 로고
    • A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy
    • (1995) Am J Hum Genet , vol.56 , pp. 1238-1240
    • Lamminen, T.1    Majander, A.2    Juvonen, V.3
  • 57
  • 60
    • 0026746739 scopus 로고
    • A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
    • (1992) Am J Hum Genet , vol.51 , pp. 1218-1228
    • Mackey, D.A.1    Howell, N.2
  • 61
    • 0027977998 scopus 로고
    • Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy
    • (1994) Eye , vol.8 , pp. 431-436
    • Mackey, D.A.1
  • 62
  • 70
    • 0027180961 scopus 로고
    • Leber's hereditary optic neuropathy: New genetic considerations
    • (1993) Arch Neurol , vol.50 , pp. 540-548
    • Newman, N.J.1
  • 75
    • 0028957580 scopus 로고
    • Leber's hereditary opticoneuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation
    • (1995) Acta Neurol Scand , vol.91 , pp. 326-329
    • Olsen, N.K.1    Hansen, A.W.2    Norby, S.3
  • 89
    • 16944363113 scopus 로고    scopus 로고
    • Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
    • (1997) Am J Hum Genet , vol.60 , pp. 1107-1121
    • Torroni, A.1    Petrozzi, M.2    D'Urbano, L.3
  • 97
    • 0032854412 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy (LHON): A mitochondrial disease with unresolved complexities
    • (1999) Cytogenet Cell Genet , vol.86 , pp. 153-156
    • Went, L.N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.