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Journal Abstract Search

274 related items for PubMed ID: 29509064

  • 1. A Chinese patient of P102L Gerstmann-Sträussler-Scheinker disease contains three other disease-associated mutations in SYNE1.
    Wang J, Xiao K, Zhou W, Gao C, Chen C, Shi Q, Dong XP.
    Prion; 2018 Mar 04; 12(2):150-155. PubMed ID: 29509064
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  • 8. NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).
    Salemi M, Mandarà LGM, Salluzzo MG, Schillaci FA, Castiglione R, Cordella A, Iorio R, Perrotta CS, Ferri R, Romano C.
    Mol Biol Rep; 2023 Nov 04; 50(11):9715-9720. PubMed ID: 37812352
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  • 10. A distinct phenotype of leg hyperreflexia in a Japanese family with Gerstmann-Sträussler-Scheinker syndrome (P102L).
    Takazawa T, Ikeda K, Ito H, Aoyagi J, Nakamura Y, Miura K, Iwamoto K, Kano O, Kawabe K, Iwasaki Y.
    Intern Med; 2010 Nov 04; 49(4):339-42. PubMed ID: 20154442
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  • 15. Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature.
    Rusina R, Fiala J, Holada K, Matějčková M, Nováková J, Ampapa R, Koukolík F, Matěj R.
    Neurocase; 2013 Nov 04; 19(1):41-53. PubMed ID: 22494260
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  • 16. Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy.
    Mumoli L, Labate A, Gambardella A.
    Eur J Neurol; 2017 Dec 04; 24(12):e87-e88. PubMed ID: 29148226
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  • 19. Prion Mutations in Republic of Republic of Korea, China, and Japan.
    Kim DY, Shim KH, Bagyinszky E, An SSA.
    Int J Mol Sci; 2022 Dec 30; 24(1):. PubMed ID: 36614069
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