These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. The influence of PRNP polymorphisms on human prion disease susceptibility: an update. Kobayashi A; Teruya K; Matsuura Y; Shirai T; Nakamura Y; Yamada M; Mizusawa H; Mohri S; Kitamoto T Acta Neuropathol; 2015 Aug; 130(2):159-70. PubMed ID: 26022925 [TBL] [Abstract][Full Text] [Related]
6. Novel twelve-generation kindred of fatal familial insomnia from germany representing the entire spectrum of disease expression. Harder A; Jendroska K; Kreuz F; Wirth T; Schafranka C; Karnatz N; Théallier-Janko A; Dreier J; Lohan K; Emmerich D; Cervós-Navarro J; Windl O; Kretzschmar HA; Nürnberg P; Witkowski R Am J Med Genet; 1999 Dec; 87(4):311-6. PubMed ID: 10588836 [TBL] [Abstract][Full Text] [Related]
7. Molecular genetics of prion diseases in France. French Research Group on Epidemiology of Human Spongiform Encephalopathies. Laplanche JL; Delasnerie-Lauprêtre N; Brandel JP; Chatelain J; Beaudry P; Alpérovitch A; Launay JM Neurology; 1994 Dec; 44(12):2347-51. PubMed ID: 7991124 [TBL] [Abstract][Full Text] [Related]
8. Association of prion protein genotype and scrapie prion protein type with cellular prion protein charge isoform profiles in cerebrospinal fluid of humans with sporadic or familial prion diseases. Schmitz M; Lüllmann K; Zafar S; Ebert E; Wohlhage M; Oikonomou P; Schlomm M; Mitrova E; Beekes M; Zerr I Neurobiol Aging; 2014 May; 35(5):1177-88. PubMed ID: 24360565 [TBL] [Abstract][Full Text] [Related]
9. Prospective 10-year surveillance of human prion diseases in Japan. Nozaki I; Hamaguchi T; Sanjo N; Noguchi-Shinohara M; Sakai K; Nakamura Y; Sato T; Kitamoto T; Mizusawa H; Moriwaka F; Shiga Y; Kuroiwa Y; Nishizawa M; Kuzuhara S; Inuzuka T; Takeda M; Kuroda S; Abe K; Murai H; Murayama S; Tateishi J; Takumi I; Shirabe S; Harada M; Sadakane A; Yamada M Brain; 2010 Oct; 133(10):3043-57. PubMed ID: 20855418 [TBL] [Abstract][Full Text] [Related]
10. Effect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion protein. Petersen RB; Parchi P; Richardson SL; Urig CB; Gambetti P J Biol Chem; 1996 May; 271(21):12661-8. PubMed ID: 8647879 [TBL] [Abstract][Full Text] [Related]
11. Genetic studies in human prion diseases. Jeong BH; Kim YS J Korean Med Sci; 2014 May; 29(5):623-32. PubMed ID: 24851016 [TBL] [Abstract][Full Text] [Related]
12. Pathologic evidence that the T188R mutation in PRNP is associated with prion disease. Tartaglia MC; Thai JN; See T; Kuo A; Harbaugh R; Raudabaugh B; Cali I; Sattavat M; Sanchez H; DeArmond SJ; Geschwind MD J Neuropathol Exp Neurol; 2010 Dec; 69(12):1220-7. PubMed ID: 21107135 [TBL] [Abstract][Full Text] [Related]
13. Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients. Choi BY; Kim SY; Seo SY; An SS; Kim S; Park SE; Lee SH; Choi YJ; Kim SJ; Kim CK; Park JS; Ju YR BMC Infect Dis; 2009 Aug; 9():132. PubMed ID: 19698114 [TBL] [Abstract][Full Text] [Related]
14. Clinical findings and diagnosis in genetic prion diseases in Germany. Krasnianski A; Heinemann U; Ponto C; Kortt J; Kallenberg K; Varges D; Schulz-Schaeffer WJ; Kretzschmar HA; Zerr I Eur J Epidemiol; 2016 Feb; 31(2):187-96. PubMed ID: 26076917 [TBL] [Abstract][Full Text] [Related]
15. A novel mechanism of phenotypic heterogeneity demonstrated by the effect of a polymorphism on a pathogenic mutation in the PRNP (prion protein gene). Petersen RB; Goldfarb LG; Tabaton M; Brown P; Monari L; Cortelli P; Montagna P; Autilio-Gambetti L; Gajdusek DC; Lugaresi E Mol Neurobiol; 1994; 8(2-3):99-103. PubMed ID: 7999319 [TBL] [Abstract][Full Text] [Related]
18. Prion mutation D178N with highly variable disease onset and phenotype. Synofzik M; Bauer P; Schöls L J Neurol Neurosurg Psychiatry; 2009 Mar; 80(3):345-6. PubMed ID: 19228673 [TBL] [Abstract][Full Text] [Related]
19. Familial fatal insomnia with atypical clinical features in a patient with D178N mutation and homozygosity for Met at codon 129 of the prion protein gene. Sun L; Li X; Lin X; Yan F; Chen K; Xiao S Prion; 2015; 9(3):228-35. PubMed ID: 26074146 [TBL] [Abstract][Full Text] [Related]
20. Genetic prion disease: the EUROCJD experience. Kovács GG; Puopolo M; Ladogana A; Pocchiari M; Budka H; van Duijn C; Collins SJ; Boyd A; Giulivi A; Coulthart M; Delasnerie-Laupretre N; Brandel JP; Zerr I; Kretzschmar HA; de Pedro-Cuesta J; Calero-Lara M; Glatzel M; Aguzzi A; Bishop M; Knight R; Belay G; Will R; Mitrova E; Hum Genet; 2005 Nov; 118(2):166-74. PubMed ID: 16187142 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]