BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

276 related articles for article (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; 12(2):150-155. PubMed ID: 29509064
    [TBL] [Abstract][Full Text] [Related]  

  • 2. First familial cases of P102L Gerstmann-Sträussler-Scheinker syndrome in South Korea: diffusion-weighted imaging might reflect intrafamilial phenotypic variability.
    Ahn SJ; Lee HS; Moon J; Chu K
    Neurol Sci; 2022 May; 43(5):3419-3422. PubMed ID: 35129726
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A family with mental disorder as the first symptom finally confirmed with Gerstmann-Sträussler-Scheinker disease with P102L mutation in PRNP gene - case report.
    Chen Z; Guo J; Ran N; Zhong Y; Yang F; Sun H
    Prion; 2023 Dec; 17(1):37-43. PubMed ID: 36847171
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Straussler-Scheinker syndrome with P102L mutation in PRNP gene.
    Long L; Cai X; Shu Y; Lu Z
    Neurosciences (Riyadh); 2017 Apr; 22(2):138-142. PubMed ID: 28416787
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Clinical features of Chinese patients with Gerstmann-Sträussler-Scheinker identified by targeted next-generation sequencing.
    Li HF; Liu ZJ; Dong HL; Xie JJ; Zhao SY; Ni W; Dong Y; Wu ZY
    Neurobiol Aging; 2017 Jan; 49():216.e1-216.e5. PubMed ID: 28340953
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 50(11):9715-9720. PubMed ID: 37812352
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A three-sister sibship of Gerstmann-Sträussler-Scheinker disease with a CJD phenotype.
    Majtényi C; Brown P; Cervenáková L; Goldfarb LG; Tateishi J
    Neurology; 2000 Jun; 54(11):2133-7. PubMed ID: 10851377
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 49(4):339-42. PubMed ID: 20154442
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Sporadic Creutzfeldt-Jakob Disease in a Woman Married Into a Gerstmann-Sträussler-Scheinker Family: An Investigation of Prions Transmission via Microchimerism.
    Areškeviciute A; Melchior LC; Broholm H; Krarup LH; Lindquist SG; Johansen P; McKenzie N; Green A; Nielsen JE; Laursen H; Lund EL
    J Neuropathol Exp Neurol; 2018 Aug; 77(8):673-684. PubMed ID: 29889261
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [Patient with Gerstmann-Striussler-Scheinker syndrome (GSS P102L) presenting high intensity lesions in the cerebral cortex on diffusion weighted MRI].
    Misumi M; Nishida Y; Araki S
    Rinsho Shinkeigaku; 2006 Apr; 46(4):291-3. PubMed ID: 16768100
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease.
    Rudge P; Jaunmuktane Z; Hyare H; Ellis M; Koltzenburg M; Collinge J; Brandner S; Mead S
    Brain; 2019 Mar; 142(3):760-770. PubMed ID: 30698738
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 19(1):41-53. PubMed ID: 22494260
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 24(12):e87-e88. PubMed ID: 29148226
    [No 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. Gerstmann-Sträussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.
    Stephen CD; de Gusmao CM; Srinivasan SR; Olsen A; Freua F; Kok F; Montes Garcia Barbosa R; Chen JYH; Appleby BS; Prior T; Frosch MP; Schmahmann JD
    Mov Disord Clin Pract; 2024 Apr; 11(4):411-423. PubMed ID: 38258626
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 24(1):. PubMed ID: 36614069
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A case of sporadic Creutzfeldt-Jakob disease with a Gerstmann-Sträussler-Scheinker phenotype but no alterations in the PRNP gene.
    Liberski PP; Barcikowska M; Cervenakova L; Bratosiewicz J; Marczewska M; Brown P; Gajdusek DC
    Acta Neuropathol; 1998 Oct; 96(4):425-30. PubMed ID: 9797009
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.