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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805085/
https://www.ncbi.nlm.nih.gov/pubmed/26674655
http://dx.doi.org/10.1093/brain/awv358

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