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Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization

Autor: Eraña, Hasier, San Millán, Beatriz, Díaz-Domínguez, Carlos M., Charco, Jorge M., Rodríguez, Rosa, Viéitez, Irene, Pereda, Arrate, Yañez, Rosa, Geijo, Maria V., Navarro, Carmen, Perez de Nanclares, Guiomar, Teijeira, Susana, Castilla, Joaquín

Publikováno v: Journal of Neurology. 269:4253-4263

Gerstmann–Sträussler–Scheinker disease (GSS) is a rare neurodegenerative illness that belongs to the group of hereditary or familial Transmissible Spongiform Encephalopathies (TSE). Due to the presence of different pathogenic alterations in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::522768abdea852e89d7ab52ebf39077b
https://doi.org/10.1007/s00415-022-11051-9

Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value

Autor: Kortazar-Zubizarreta, Izaro, Eraña, Hasier, Pereda, Arrate, Charco, Jorge M., Manero-Azua, África, Ruiz-Onandi, Rebeca, Aguirre, Urko, González-Chinchón, Gonzalo, Basque Prionopathy Study Group, Perez de Nanclares, Guiomar, Castilla, Joaquín

Fatal familial insomnia (FFI) is a rare prionopathy with unusually high incidence in the Basque Country. We report detailed data on clinical, diagnostic, histopathological, and biochemical characteristics of a recent FFI case series. The Basque Brain

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2659::6945c3e9ad45e2bda2439cc82b97cab4
https://zenodo.org/record/7428479

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Development of a new largely scalable in vitro prion propagation method for the production of infectious recombinant prions for high resolution structural studies.

Autor: Eraña, Hasier^1,2 (AUTHOR), Charco, Jorge M.¹ (AUTHOR), Di Bari, Michele A.³ (AUTHOR), Díaz-Domínguez, Carlos M.¹ (AUTHOR), López-Moreno, Rafael¹ (AUTHOR), Vidal, Enric⁴ (AUTHOR), González-Miranda, Ezequiel¹ (AUTHOR), Pérez-Castro, Miguel A.¹ (AUTHOR), García-Martínez, Sandra^1,2 (AUTHOR), Bravo, Susana⁵ (AUTHOR), Fernández-Borges, Natalia¹ (AUTHOR), Geijo, Mariví⁶ (AUTHOR), D'Agostino, Claudia³ (AUTHOR), Garrido, Joseba⁶ (AUTHOR), Bian, Jifeng⁷ (AUTHOR), König, Anna^8,9 (AUTHOR), Uluca-Yazgi, Boran^8,9 (AUTHOR), Sabate, Raimon^10,11 (AUTHOR), Khaychuk, Vadim⁷ (AUTHOR), Vanni, Ilaria³ (AUTHOR)

Publikováno v: PLoS Pathogens. 10/23/2019, Vol. 15 Issue 10, p1-33. 33p.