Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene

Prion diseases are neurodegenerative disorders which are caused by an accumulation of the abnormal, misfolded prion protein known as scrapie prion protein (PrP(Sc)). These disorders are unique as they occur as sporadic, genetic and acquired forms. Sporadic Creutzfeldt-Jakob Disease (CJD) is the most...

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Detalles Bibliográficos
Autores principales: Di Fede, Giuseppe, Catania, Marcella, Atzori, Cristiana, Moda, Fabio, Pasquali, Claudio, Indaco, Antonio, Grisoli, Marina, Zuffi, Marta, Guaita, Maria Cristina, Testi, Roberto, Taraglio, Stefano, Sessa, Maria, Gusmaroli, Graziano, Spinelli, Mariacarmela, Salzano, Giulia, Legname, Giuseppe, Tarletti, Roberto, Godi, Laura, Pocchiari, Maurizio, Tagliavini, Fabrizio, Imperiale, Daniele, Giaccone, Giorgio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317215/
https://www.ncbi.nlm.nih.gov/pubmed/30606247
http://dx.doi.org/10.1186/s40478-018-0656-4

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