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2. Divergent clinical and neuropathological phenotype in a Gerstmann-Sträussler-Scheinker P102L family. Popova SN; Tarvainen I; Capellari S; Parchi P; Hannikainen P; Pirinen E; Haapasalo H; Alafuzoff I Acta Neurol Scand; 2012 Nov; 126(5):315-23. PubMed ID: 22211828 [TBL] [Abstract][Full Text] [Related]
3. Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation). Barbanti P; Fabbrini G; Salvatore M; Petraroli R; Cardone F; Maras B; Equestre M; Macchi G; Lenzi GL; Pocchiari M Neurology; 1996 Sep; 47(3):734-41. PubMed ID: 8797472 [TBL] [Abstract][Full Text] [Related]
4. 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]
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7. Unusual clinical and molecular-pathological profile of gerstmann-Sträussler-Scheinker disease associated with a novel PRNP mutation (V176G). Simpson M; Johanssen V; Boyd A; Klug G; Masters CL; Li QX; Pamphlett R; McLean C; Lewis V; Collins SJ JAMA Neurol; 2013 Sep; 70(9):1180-5. PubMed ID: 23857164 [TBL] [Abstract][Full Text] [Related]
8. An Israeli family with Gerstmann-Sträussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene. Goldhammer Y; Gabizon R; Meiner Z; Sadeh M Neurology; 1993 Dec; 43(12):2718-9. PubMed ID: 7902971 [TBL] [Abstract][Full Text] [Related]
9. Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome. Bhatia S; Bijarnia-Mahay S; Dubey S; Gourie-Devi M Neurol India; 2020; 68(6):1431-1434. PubMed ID: 33342883 [TBL] [Abstract][Full Text] [Related]
10. Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome. Kretzschmar HA; Kufer P; Riethmüller G; DeArmond S; Prusiner SB; Schiffer D Neurology; 1992 Apr; 42(4):809-10. PubMed ID: 1348851 [TBL] [Abstract][Full Text] [Related]
11. [Mutation of codon 117 of the prion gene in Gerstmann-Sträussler-Scheinker disease]. Tranchant C; Doh-Ura K; Steinmetz G; Chevalier Y; Kitamoto T; Tateishi J; Warter JM Rev Neurol (Paris); 1991; 147(4):274-8. PubMed ID: 2063076 [TBL] [Abstract][Full Text] [Related]
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13. Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene. Dlouhy SR; Hsiao K; Farlow MR; Foroud T; Conneally PM; Johnson P; Prusiner SB; Hodes ME; Ghetti B Nat Genet; 1992 Apr; 1(1):64-7. PubMed ID: 1363809 [TBL] [Abstract][Full Text] [Related]