Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

We identified in a cohort of patients with frontotemporal dementia (n = 481) or amyotrophic lateral sclerosis (n = 147), 10 index patients carrying a TBK1 loss of function mutation reducing TBK1 expression by 50%. Here, we describe the clinical and pathological characteristics of the 10 index patien...

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Detalhes bibliográficos
Publicado no:Brain
Main Authors: Van Mossevelde, Sara, van der Zee, Julie, Gijselinck, Ilse, Engelborghs, Sebastiaan, Sieben, Anne, Van Langenhove, Tim, De Bleecker, Jan, Baets, Jonathan, Vandenbulcke, Mathieu, Van Laere, Koen, Ceyssens, Sarah, Van den Broeck, Marleen, Peeters, Karin, Mattheijssens, Maria, Cras, Patrick, Vandenberghe, Rik, De Jonghe, Peter, Martin, Jean-Jacques, De Deyn, Peter P., Cruts, Marc, Van Broeckhoven, Christine
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4805085/
https://ncbi.nlm.nih.gov/pubmed/26674655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv358
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