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

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 prion protein (PrP) coding gene, it shows an enhanced p...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9293843/
https://www.ncbi.nlm.nih.gov/pubmed/35294616
http://dx.doi.org/10.1007/s00415-022-11051-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9293843/
https://www.ncbi.nlm.nih.gov/pubmed/35294616
http://dx.doi.org/10.1007/s00415-022-11051-9

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