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Volumn 5, Issue 2, 2009, Pages 68-69

Phenotypic heterogeneity and genetic modifiers in prion disease caused by a Pro102Leu mutation in the PRNP gene

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E; LEUCINE; PRION PROTEIN; PROLINE;

EID: 59849093547     PISSN: 1745834X     EISSN: 17458358     Source Type: Journal    
DOI: 10.1038/ncpneuro0998     Document Type: Note
Times cited : (4)

References (8)
  • 1
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    • Prion disease genetics
    • Mead S (2006) Prion disease genetics. Eur J Hum Genet 14: 273-281
    • (2006) Eur J Hum Genet , vol.14 , pp. 273-281
    • Mead, S.1
  • 2
    • 0028990981 scopus 로고
    • The original Gerstmann-Sträussler-Scheinker family of Austria: Divergent clinicopathological phenotypes but constant PrP genotype
    • Hainfellner JA et al. (1995) The original Gerstmann-Sträussler-Scheinker family of Austria: Divergent clinicopathological phenotypes but constant PrP genotype. Brain Pathol 5: 201-211
    • (1995) Brain Pathol , vol.5 , pp. 201-211
    • Hainfellner, J.A.1
  • 3
    • 34548137339 scopus 로고    scopus 로고
    • Inherited prion disease with 5-OPRI: Phenotype modification by repeat length and codon 129
    • Mead S et al. (2007) Inherited prion disease with 5-OPRI: phenotype modification by repeat length and codon 129. Neurology 69: 730-738
    • (2007) Neurology , vol.69 , pp. 730-738
    • Mead, S.1
  • 4
    • 0035063421 scopus 로고    scopus 로고
    • Phenotypic correlations in FTDP-17
    • Reed LA et al. (2001) Phenotypic correlations in FTDP-17. Neurobiol Aging 22: 89-107
    • (2001) Neurobiol Aging , vol.22 , pp. 89-107
    • Reed, L.A.1
  • 5
    • 34548633862 scopus 로고    scopus 로고
    • Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: An international initiative
    • Rademakers R et al. (2007) Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: An international initiative. Lancet Neurol 6: 857-868
    • (2007) Lancet Neurol , vol.6 , pp. 857-868
    • Rademakers, R.1
  • 6
    • 54949126830 scopus 로고    scopus 로고
    • Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series
    • Webb TE et al. (2008) Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series. Brain 131: 2632-2646
    • (2008) Brain , vol.131 , pp. 2632-2646
    • Webb, T.E.1
  • 7
    • 0025820942 scopus 로고
    • Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease
    • Palmer MS et al. (1991) Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 352 340-342
    • (1991) Nature , vol.352 , pp. 340-342
    • Palmer, M.S.1
  • 8
    • 0026849545 scopus 로고
    • Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene
    • Dlouhy SR et al. (1992) Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene. Nat Genet 1: 64-67
    • (1992) Nat Genet , vol.1 , pp. 64-67
    • Dlouhy, S.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.