메뉴 건너뛰기




Volumn 24, Issue 3, 2011, Pages 415-419

PSEN1 and PRNP gene mutations Co-occurrence makes onset very early in a family with FTD phenotype

Author keywords

Frontotemporal dementia; genetic polymorphism; penetrance; presenilin 1; prion protein

Indexed keywords

PRESENILIN 1; PRION PROTEIN;

EID: 79957824960     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-2011-101890     Document Type: Article
Times cited : (8)

References (25)
  • 2
    • 63449087340 scopus 로고    scopus 로고
    • Molecular pathology of human prion diseases
    • Kovacs GG, Budka H (2009) Molecular pathology of human prion diseases. Int J Mol Sci 10, 976-999.
    • (2009) Int J Mol Sci , vol.10 , pp. 976-999
    • Kovacs, G.G.1    Budka, H.2
  • 11
    • 55649105203 scopus 로고    scopus 로고
    • A typical presentation of Creutzfeldt-Jakob disease: The first Italian case associated with E196K mutation in the PRNP gene
    • Clerici F, Elia A, Girotti F, Contri P, Mariani C, Tagliavini F, Di Fede G (2008) Atypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP gene. J Neurol Sci 275, 145-147.
    • (2008) J Neurol Sci , vol.275 , pp. 145-147
    • Clerici, F.1    Elia, A.2    Girotti, F.3    Contri, P.4    Mariani, C.5    Tagliavini, F.6    Di Fede, G.7
  • 12
    • 58149088848 scopus 로고    scopus 로고
    • Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Sträussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family
    • Giovagnoli AR, Di Fede G, Aresi A, Reati F, Rossi G, Tagliavini F (2008) Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Sträussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family. Neurol Sci 29, 405-410.
    • (2008) Neurol Sci , vol.29 , pp. 405-410
    • Giovagnoli, A.R.1    Di Fede, G.2    Aresi, A.3    Reati, F.4    Rossi, G.5    Tagliavini, F.6
  • 15
    • 0035654072 scopus 로고    scopus 로고
    • Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene
    • Huang N, Marie SK, Kok F, Nitrini R (2001) Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene. Arq Neuropsiquiatr 59, 932-935. (Pubitemid 33607521)
    • (2001) Arquivos de Neuro-Psiquiatria , vol.59 , Issue.4 , pp. 932-935
    • Huang, N.1    Marie, S.K.N.2    Kok, F.3    Nitrini, R.4
  • 17
    • 0025257612 scopus 로고
    • Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI
    • Hixson G, Vernier D (1990) Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 31, 545-548. (Pubitemid 20107994)
    • (1990) Journal of Lipid Research , vol.31 , Issue.3 , pp. 545-548
    • Hixson, J.E.1    Vernier, D.T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.