… As a hereditary ailment, eFAD is unambiguously the result of malfunctioning in mutant genes,
while LOAD is more likely the result of a gradual accumulation of age-related breakdowns (…

… Haploinsufficiency of progranulin (PGRN) due to loss-of-function mutations in the GRN gene
is a leading genetic cause of pure FTD (Baker et al., 2006; Cruts et al., 2006; Schymick et al.…

… -causing mutations. For instance, TDP-43 type A is the only type associated with progranulin
(GRN) mutation, … Numerous mutations have been linked to sporadic and familial forms of …

… , there were 2 patients with atypical frontotemporal lobar degeneration (FTLD) with ubiquitin
… Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to …

… is GRN, mutation of which is one of the main causes of FTLD and … by progranulin and provide
future directions to study … p62/SQSTM1 and ubiquitin-positive inclusions in degenerating …

… All FTD phenotypes share an underlying pathological frontotemporal lobar degeneration (…
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to …

… mutations in the GRN gene, which encodes the progranulin (PGRN) protein (FTD-GRN). GRN
mutation … due to significant differences in mutation frequency among various populations 3,…

… We extracted DNA from the frozen frontal lobe following a standard protocol. We screened
samples from CBD, PSP and GGT cases for known exonic and intronic mutations of MAPT. …

… Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to
chromosome 17q21. Nature 2006; 442:920–924Crossref, Medline, Google Scholar …

… Genomewide screen identifies rs646776 near sortilin as a regulator of progranulin levels
in … Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to …