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3. Inherited prion disease A117V is not simply a proteinopathy but produces prions transmissible to transgenic mice expressing homologous prion protein. Asante EA; Linehan JM; Smidak M; Tomlinson A; Grimshaw A; Jeelani A; Jakubcova T; Hamdan S; Powell C; Brandner S; Wadsworth JD; Collinge J PLoS Pathog; 2013; 9(9):e1003643. PubMed ID: 24086135 [TBL] [Abstract][Full Text] [Related]
4. A New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused by the A117V Mutation of PRNP. Yang W; Cook J; Rassbach B; Lemus A; DeArmond SJ; Mastrianni JA J Neurosci; 2009 Aug; 29(32):10072-80. PubMed ID: 19675240 [TBL] [Abstract][Full Text] [Related]
5. Gerstmann-Sträussler-Scheinker disease. I. Human diseases. Liberski PP; Budka H Folia Neuropathol; 2004; 42 Suppl B():120-40. PubMed ID: 16903147 [TBL] [Abstract][Full Text] [Related]
6. Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity. Piccardo P; Dlouhy SR; Lievens PM; Young K; Bird TD; Nochlin D; Dickson DW; Vinters HV; Zimmerman TR; Mackenzie IR; Kish SJ; Ang LC; De Carli C; Pocchiari M; Brown P; Gibbs CJ; Gajdusek DC; Bugiani O; Ironside J; Tagliavini F; Ghetti B J Neuropathol Exp Neurol; 1998 Oct; 57(10):979-88. PubMed ID: 9786248 [TBL] [Abstract][Full Text] [Related]
7. Prion proteins with different conformations accumulate in Gerstmann-Sträussler-Scheinker disease caused by A117V and F198S mutations. Piccardo P; Liepnieks JJ; William A; Dlouhy SR; Farlow MR; Young K; Nochlin D; Bird TD; Nixon RR; Ball MJ; DeCarli C; Bugiani O; Tagliavini F; Benson MD; Ghetti B Am J Pathol; 2001 Jun; 158(6):2201-7. PubMed ID: 11395398 [TBL] [Abstract][Full Text] [Related]
8. Transmissibility of Gerstmann-Sträussler-Scheinker syndrome in rodent models: New insights into the molecular underpinnings of prion infectivity. Nonno R; Angelo Di Bari M; Agrimi U; Pirisinu L Prion; 2016 Nov; 10(6):421-433. PubMed ID: 27892798 [TBL] [Abstract][Full Text] [Related]
9. Isolation of infectious, non-fibrillar and oligomeric prions from a genetic prion disease. Vanni I; Pirisinu L; Acevedo-Morantes C; Kamali-Jamil R; Rathod V; Di Bari MA; D'Agostino C; Marcon S; Esposito E; Riccardi G; Hornemann S; Senatore A; Aguzzi A; Agrimi U; Wille H; Nonno R Brain; 2020 May; 143(5):1512-1524. PubMed ID: 32303068 [TBL] [Abstract][Full Text] [Related]
10. Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Sträussler-Scheinker disease. Parchi P; Chen SG; Brown P; Zou W; Capellari S; Budka H; Hainfellner J; Reyes PF; Golden GT; Hauw JJ; Gajdusek DC; Gambetti P Proc Natl Acad Sci U S A; 1998 Jul; 95(14):8322-7. PubMed ID: 9653185 [TBL] [Abstract][Full Text] [Related]
11. Gerstmann-Sträussler-Scheinker Disease with F198S Mutation Induces Independent Tau and Prion Protein Pathologies in Bank Voles. Bruno R; Pirisinu L; Riccardi G; D'Agostino C; De Cecco E; Legname G; Cardone F; Gambetti P; Nonno R; Agrimi U; Di Bari MA Biomolecules; 2022 Oct; 12(10):. PubMed ID: 36291746 [TBL] [Abstract][Full Text] [Related]
12. Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases. Pirisinu L; Di Bari MA; D'Agostino C; Marcon S; Riccardi G; Poleggi A; Cohen ML; Appleby BS; Gambetti P; Ghetti B; Agrimi U; Nonno R Sci Rep; 2016 Feb; 6():20443. PubMed ID: 26841849 [TBL] [Abstract][Full Text] [Related]
13. Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before onset of Gerstmann-Sträussler-Scheinker disease. Sasaki K; Doh-ura K; Furuta A; Nakashima S; Morisada Y; Tateishi J; Iwaki T Acta Neuropathol; 2003 Jul; 106(1):92-6. PubMed ID: 12682740 [TBL] [Abstract][Full Text] [Related]
14. A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivity, is the major amyloid protein in Gerstmann-Sträussler-Scheinker disease A117V. Tagliavini F; Lievens PM; Tranchant C; Warter JM; Mohr M; Giaccone G; Perini F; Rossi G; Salmona M; Piccardo P; Ghetti B; Beavis RC; Bugiani O; Frangione B; Prelli F J Biol Chem; 2001 Feb; 276(8):6009-15. PubMed ID: 11087738 [TBL] [Abstract][Full Text] [Related]
15. Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders. Peoc'h K; Levavasseur E; Delmont E; De Simone A; Laffont-Proust I; Privat N; Chebaro Y; Chapuis C; Bedoucha P; Brandel JP; Laquerriere A; Kemeny JL; Hauw JJ; Borg M; Rezaei H; Derreumaux P; Laplanche JL; Haïk S Hum Mol Genet; 2012 Dec; 21(26):5417-28. PubMed ID: 22965875 [TBL] [Abstract][Full Text] [Related]
16. Gerstmann-Sträussler-Scheinker syndrome with variable phenotype in a new kindred with PRNP-P102L mutation. Riudavets MA; Sraka MA; Schultz M; Rojas E; Martinetto H; Begué C; Noher de Halac I; Poleggi A; Equestre M; Pocchiari M; Sevlever G; Taratuto AL Brain Pathol; 2014 Mar; 24(2):142-7. PubMed ID: 23944754 [TBL] [Abstract][Full Text] [Related]
17. Hereditary prion protein amyloidoses. Ghetti B; Tagliavini F; Takao M; Bugiani O; Piccardo P Clin Lab Med; 2003 Mar; 23(1):65-85, viii. PubMed ID: 12733425 [TBL] [Abstract][Full Text] [Related]
18. An autopsy report of three kindred in a Gerstmann-Sträussler-Scheinker disease P105L family with a special reference to prion protein, tau, and beta-amyloid. Ishizawa K; Mitsufuji T; Shioda K; Kobayashi A; Komori T; Nakazato Y; Kitamoto T; Araki N; Yamamoto T; Sasaki A Brain Behav; 2018 Oct; 8(10):e01117. PubMed ID: 30240140 [TBL] [Abstract][Full Text] [Related]