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.
23. Genotype patterns and characteristics of PRNP in the Korean population. Moe Lee S; Ran Ju Y; Choi BY; Wook Hyeon J; Sun Park J; Kyeong Kim C; Yeon Kim S Prion; 2012; 6(4):375-82. PubMed ID: 22561193 [TBL] [Abstract][Full Text] [Related]
24. PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit. Beck JA; Poulter M; Campbell TA; Adamson G; Uphill JB; Guerreiro R; Jackson GS; Stevens JC; Manji H; Collinge J; Mead S Hum Mutat; 2010 Jul; 31(7):E1551-63. PubMed ID: 20583301 [TBL] [Abstract][Full Text] [Related]
26. Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: an arterial spin labeling MRI study. Chen S; Guan M; Shang JK; He S; Zhang ML; Ma MM; Zhang JW J Clin Neurosci; 2015 Jan; 22(1):204-6. PubMed ID: 25220284 [TBL] [Abstract][Full Text] [Related]
27. The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred. McLean CA; Storey E; Gardner RJ; Tannenberg AE; Cervenáková L; Brown P Neurology; 1997 Aug; 49(2):552-8. PubMed ID: 9270595 [TBL] [Abstract][Full Text] [Related]
28. Report about four novel mutations in the prion protein gene. Schelzke G; Stoeck K; Eigenbrod S; Grasbon-Frodl E; Raddatz LM; Ponto C; Kretzschmar HA; Zerr I Dement Geriatr Cogn Disord; 2013; 35(3-4):229-37. PubMed ID: 23467330 [TBL] [Abstract][Full Text] [Related]
29. Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI): codon 178 mutation and codon 129 polymorphism. Medori R; Tritschler HJ Am J Hum Genet; 1993 Oct; 53(4):822-7. PubMed ID: 8105681 [TBL] [Abstract][Full Text] [Related]
31. Prion disease with a 144 base pair insertion: unusual cerebellar prion protein immunoreactivity. Gelpi E; Kovacs GG; Ströbel T; Koperek O; Voigtländer T; Liberski PP; Budka H Acta Neuropathol; 2005 Nov; 110(5):513-9. PubMed ID: 16155763 [TBL] [Abstract][Full Text] [Related]
32. Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development. Mitrová E; Belay G Acta Virol; 2002; 46(1):31-9. PubMed ID: 12197632 [TBL] [Abstract][Full Text] [Related]
33. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. Monari L; Chen SG; Brown P; Parchi P; Petersen RB; Mikol J; Gray F; Cortelli P; Montagna P; Ghetti B Proc Natl Acad Sci U S A; 1994 Mar; 91(7):2839-42. PubMed ID: 7908444 [TBL] [Abstract][Full Text] [Related]
34. Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene. Windl O; Dempster M; Estibeiro JP; Lathe R; de Silva R; Esmonde T; Will R; Springbett A; Campbell TA; Sidle KC; Palmer MS; Collinge J Hum Genet; 1996 Sep; 98(3):259-64. PubMed ID: 8707291 [TBL] [Abstract][Full Text] [Related]
36. A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein. Hainfellner JA; Parchi P; Kitamoto T; Jarius C; Gambetti P; Budka H Ann Neurol; 1999 Jun; 45(6):812-6. PubMed ID: 10360778 [TBL] [Abstract][Full Text] [Related]
37. One gene, two diseases and three conformations: molecular dynamics simulations of mutants of human prion protein at room temperature and elevated temperatures. Shamsir MS; Dalby AR Proteins; 2005 May; 59(2):275-90. PubMed ID: 15739202 [TBL] [Abstract][Full Text] [Related]
38. Clinical and genetic features of human prion diseases in Catalonia: 1993-2002. Sanchez-Valle R; Nos C; Yagüe J; Graus F; Domínguez A; Saiz A; Eur J Neurol; 2004 Oct; 11(10):649-55. PubMed ID: 15469448 [TBL] [Abstract][Full Text] [Related]
39. Creutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein gene. Komatsu J; Sakai K; Hamaguchi T; Sugiyama Y; Iwasa K; Yamada M Prion; 2014; 8(5):336-8. PubMed ID: 25495585 [TBL] [Abstract][Full Text] [Related]
40. Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation. Chapman J; Arlazoroff A; Goldfarb LG; Cervenakova L; Neufeld MY; Werber E; Herbert M; Brown P; Gajdusek DC; Korczyn AD Neurology; 1996 Mar; 46(3):758-61. PubMed ID: 8618678 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]