Article
Novel GRN Mutations in Patients with Corticobasal Syndrome.
Scientific reports - 10 Mar 2016
Taghdiri Foad, Sato Christine, Ghani Mahdi, Moreno Danielle, Rogaeva Ekaterina, Tartaglia Maria Carmela
Abstract excerpt
Loss-of-function GRN mutations lead to GRN haploinsufficiency and consequently neurodegeneration with significant heterogeneity in clinical presentation of various syndromes. The aim of this study was to investigate the genetics and clinical features of patients with GRN-related frontotemporal lobar degeneration (FTLD) syndromes. We performed mutation analysis of GRN in 45 unrelated Canadian patients with a broad...
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