메뉴 건너뛰기




Volumn 31, Issue 7, 2010, Pages

PRNP allelic series from 19 years of prion protein gene sequencing at the MRC prion unit

Author keywords

Allele; Diagnosis; Inherited; Mutation screening; Prion; PRNP

Indexed keywords

PRION PROTEIN; PRION;

EID: 77954102231     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21281     Document Type: Article
Times cited : (78)

References (25)
  • 1
    • 0017367439 scopus 로고
    • Dangers of accidental person to person transmission of Creutzfeldt Jakob disease by surgery
    • Bernoulli C, Siegfried J, Baumgartner G, Regli F, Rabinowicz T, Gajdusek DC et al. Danger of accidental person-to-person transmission of Creutzfeldt-Jakob disease by surgery [letter]. Lancet 1977; 1: 478-479. (Pubitemid 8045134)
    • (1977) Lancet , vol.1 , Issue.8009 , pp. 478-479
    • Bernoulli, C.1    Siegfried, J.2    Baumgartner, G.3
  • 2
    • 0034916581 scopus 로고    scopus 로고
    • Prion diseases of humans and animals: Their causes and molecular basis
    • DOI 10.1146/annurev.neuro.24.1.519
    • Collinge J. Prion diseases of humans and animals: their causes and molecular basis. Annu Rev Neurosci 2001; 24: 519-550. (Pubitemid 32695238)
    • (2001) Annual Review of Neuroscience , vol.24 , pp. 519-550
    • Collinge, J.1
  • 4
    • 0014190760 scopus 로고
    • Self Replication and scrapie
    • Griffith JS. Self Replication and scrapie. Nature 1967; 215: 1043-1044.
    • (1967) Nature , vol.215 , pp. 1043-1044
    • Griffith, J.S.1
  • 10
    • 33645147707 scopus 로고    scopus 로고
    • Prion disease genetics
    • Mead S. Prion disease genetics. Eur J Hum Genet 2006; 14: 273-281.
    • (2006) Eur J Hum Genet , vol.14 , pp. 273-281
    • Mead, S.1
  • 11
    • 0025820942 scopus 로고
    • Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease
    • Palmer MS, Dryden AJ, Hughes JT, Collinge J. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 1991; 352: 340-342. (Pubitemid 21912354)
    • (1991) Nature , vol.352 , Issue.6333 , pp. 340-342
    • Palmer, M.S.1    Dryden, A.J.2    Hughes, J.T.3    Collinge, J.4
  • 13
    • 10744232187 scopus 로고    scopus 로고
    • Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene
    • Pietrini V, Puoti G, Limido L, Rossi G, Di Fede G, Giaccone G et al. Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene. Neurology 2003; 61: 1288-1291.
    • (2003) Neurology , vol.61 , pp. 1288-1291
    • Pietrini, V.1    Puoti, G.2    Limido, L.3    Rossi, G.4    Di Fede, G.5    Giaccone, G.6
  • 14
    • 0020321767 scopus 로고
    • Novel proteinaceous infectious particles cause scrapie
    • Prusiner SB. Novel proteinaceous infectious particles cause scrapie. Science 1982; 216: 136-144.
    • (1982) Science , vol.216 , pp. 136-144
    • Prusiner, S.B.1
  • 15
    • 20244364665 scopus 로고    scopus 로고
    • A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease
    • Rodriguez MM, Peoc'h K, Haik S, Bouchet C, Vernengo L, Manana G et al. A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease. Neurology 2005; 64: 1455-1457.
    • (2005) Neurology , vol.64 , pp. 1455-1457
    • Rodriguez, M.M.1    Peoc'h, K.2    Haik, S.3    Bouchet, C.4    Vernengo, L.5    Manana, G.6
  • 17
    • 0031842845 scopus 로고    scopus 로고
    • Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease
    • DOI 10.1002/ana.410430618
    • Shibuya S, Higuchi J, Shin RW, Tateishi J, Kitamoto T. Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt- Jakob disease. Ann Neurol 1998; 43: 826-828. (Pubitemid 28280227)
    • (1998) Annals of Neurology , vol.43 , Issue.6 , pp. 826-828
    • Shibuya, S.1    Higuchi, J.2    Shin, R.-W.3    Tateishi, J.4    Kitamoto, T.5
  • 18
    • 0037004912 scopus 로고    scopus 로고
    • Early and persistent sensory-psychiatric symptoms in an inherited prion disease with a PrP P105L mutation [4]
    • DOI 10.1007/s00415-002-0907-x
    • Shiraishi A, Mizusawa H, Yamada M. Early and persistent sensory-psychiatric symptoms in an inherited prion disease with a PrP P105L mutation. J Neurol 2002; 249: 1740-1741. (Pubitemid 36269272)
    • (2002) Journal of Neurology , vol.249 , Issue.12 , pp. 1740-1741
    • Shiraishi, A.1    Mizusawa, H.2    Yamada, M.3
  • 22
    • 54949126830 scopus 로고    scopus 로고
    • Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series
    • Webb TE, Poulter M, Beck J, Uphill J, Adamson G, Campbell T et al. Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series. Brain 2008; 131: 2632-2646.
    • (2008) Brain , vol.131 , pp. 2632-2646
    • Webb, T.E.1    Poulter, M.2    Beck, J.3    Uphill, J.4    Adamson, G.5    Campbell, T.6
  • 23
    • 3042542466 scopus 로고    scopus 로고
    • [Surveillance of prion diseases in Japan: Analysis of 409 patients]17
    • Yamada M. [Surveillance of prion diseases in Japan: analysis of 409 patients]17. Rinsho Shinkeigaku 2003; 43: 806-809.
    • (2003) Rinsho Shinkeigaku , vol.43 , pp. 806-809
    • Yamada, M.1
  • 24
    • 0033551458 scopus 로고    scopus 로고
    • An inherited prion disease with a PrPP105L mutation - Clinicopathologic and PrP heterogeneity
    • Yamada M, Itoh Y, Inaba A, Wada Y, Takashima M, Satoh S et al. An inherited prion disease with a PrPP105L mutation - Clinicopathologic and PrP heterogeneity. Neurology 1999; 53: 181-188.
    • (1999) Neurology , vol.53 , pp. 181-188
    • Yamada, M.1    Itoh, Y.2    Inaba, A.3    Wada, Y.4    Takashima, M.5    Satoh, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.