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Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia

We identified an autosomal dominant progranulin mutation carrier without symptoms of dementia in her lifetime (Reduced Penetrance Mutation Carrier, RedPenMC). This resistance to develop expected pathology presents a unique opportunity to interrogate neurodegenerative mechanisms. We performed multimo...

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Detalles Bibliográficos
Autores principales:	Natarajan, Karthick, Eisfeldt, Jesper, Hammond, Maria, Laffita-Mesa, José Miguel, Patra, Kalicharan, Khoshnood, Behzad, Öijerstedt, Linn, Graff, Caroline
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8336016/ https://www.ncbi.nlm.nih.gov/pubmed/34344473 http://dx.doi.org/10.1186/s40478-021-01234-2

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