Works matching Gerstmann-Straussler-Scheinker disease

Results: 194
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    A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles.

    Published in:
    PLoS Pathogens, 2018, v. 14, n. 1, p. 1, doi. 10.1371/journal.ppat.1006826
    By:
    • Mercer, Robert C. C.;
    • Daude, Nathalie;
    • Dorosh, Lyudmyla;
    • Fu, Ze-Lin;
    • Mays, Charles E.;
    • Gapeshina, Hristina;
    • Wohlgemuth, Serene L.;
    • Acevedo-Morantes, Claudia Y.;
    • Yang, Jing;
    • Cashman, Neil R.;
    • Coulthart, Michael B.;
    • Pearson, Dawn M.;
    • Joseph, Jeffrey T.;
    • Wille, Holger;
    • Safar, Jiri G.;
    • Jansen, Gerard H.;
    • Stepanova, Maria;
    • Sykes, Brian D.;
    • Westaway, David
    Publication type:
    Article
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    Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization.

    Published in:
    Journal of Neurology, 2022, v. 269, n. 8, p. 4253, doi. 10.1007/s00415-022-11051-9
    By:
    • Eraña, Hasier;
    • San Millán, Beatriz;
    • Díaz-Domínguez, Carlos M.;
    • Charco, Jorge M.;
    • Rodríguez, Rosa;
    • Viéitez, Irene;
    • Pereda, Arrate;
    • Yañez, Rosa;
    • Geijo, Mariví;
    • Navarro, Carmen;
    • Perez de Nanclares, Guiomar;
    • Teijeira, Susana;
    • Castilla, Joaquín
    Publication type:
    Article
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    Gerstmann‐Sträussler‐Scheinker Disease Presenting as Late‐Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.

    Published in:
    Movement Disorders Clinical Practice, 2024, v. 11, n. 4, p. 411, doi. 10.1002/mdc3.13976
    By:
    • Stephen, Christopher D.;
    • de Gusmao, Claudio Melo;
    • Srinivasan, Sharan R.;
    • Olsen, Abby;
    • Freua, Fernando;
    • Kok, Fernando;
    • Montes Garcia Barbosa, Renata;
    • Chen, Jin Yun;
    • Appleby, Brian S.;
    • Prior, Thomas;
    • Frosch, Matthew P.;
    • Schmahmann, Jeremy D.
    Publication type:
    Article
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    A novel seven-octapeptide repeat insertion in the prion protein gene ( PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.

    Published in:
    Acta Neuropathologica, 2011, v. 121, n. 1, p. 59, doi. 10.1007/s00401-010-0656-3
    By:
    • Jansen, Casper;
    • Voet, Willem;
    • Head, Mark W.;
    • Parchi, Piero;
    • Yull, Helen;
    • Verrips, Aad;
    • Wesseling, Pieter;
    • Meulstee, Jan;
    • Baas, Frank;
    • van Gool, Willem A.;
    • Ironside, James W.;
    • Rozemuller, Annemieke J. M.
    Publication type:
    Article
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    PET of Brain Prion Protein Amyloid in Gerstmann–Sträussler–Scheinker Disease.

    Published in:
    Brain Pathology, 2010, v. 20, n. 2, p. 419, doi. 10.1111/j.1750-3639.2009.00306.x
    By:
    • Kepe, Vladimir;
    • Ghetti, Bernardino;
    • Farlow, Martin R.;
    • Bresjanac, Mara;
    • Miller, Karen;
    • Sung-Cheng Huang;
    • Koon-Pong Wong;
    • Murrell, Jill R.;
    • Piccardo, Pedro;
    • Epperson, Francine;
    • Repovš, Grega;
    • Smid, Lojze M.;
    • Petrič, Andrej;
    • Siddarth, Prabha;
    • Jie Liu;
    • Satyamurthy, Nagichettiar;
    • Small, Gary W.;
    • Barrio, Jorge R.
    Publication type:
    Article
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