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iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology
Gerstmann-Sträussler-Scheinker (GSS) syndrome is a fatal autosomal dominant neurodegenerative prionopathy clinically characterized by ataxia, spastic paraparesis, extrapyramidal signs and dementia. In some GSS familiar cases carrying point mutations in the PRNP gene, patients also showed comorbid ta...
Autores principales: | Matamoros-Angles, Andreu, Gayosso, Lucía Mayela, Richaud-Patin, Yvonne, di Domenico, Angelique, Vergara, Cristina, Hervera, Arnau, Sousa, Amaya, Fernández-Borges, Natalia, Consiglio, Antonella, Gavín, Rosalina, López de Maturana, Rakel, Ferrer, Isidro, López de Munain, Adolfo, Raya, Ángel, Castilla, Joaquín, Sánchez-Pernaute, Rosario, del Río, José Antonio |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842509/ https://www.ncbi.nlm.nih.gov/pubmed/28466265 http://dx.doi.org/10.1007/s12035-017-0506-6 |
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