… presentation, with scattered synuclein and ubiquitin-positive Lewy bodies on pathology
to match, while her sister had more of a primary progressive aphasia presentation with FTLD-U …

… frontotemporal lobar degeneration with ubiquitin-positive … with the identification of mutations
in the progranulin (GRN) … FTLD-TDP, as other major causes of familial FTD allowing now to …

… (LOF) mutations in granulin (GRN) gene leading to progranulin (PGRN) happloinsufficiency
have been identified as a major cause of familial frontotemporal lobar degeneration with TDP…

… A small subset of FTLD cases presents with ubiquitin-positive but tau- and TDP-43-negative …
explained by progranulin (GRN) loss-of function mutations, C9orf72 repeat expansions or …

… GRN mutations in patients with clinical AD have been previously reported in large families …
and also carrying a GRN mutation (c.154delA) had FTLD with ubiquitin-positive, tau-negative, …

… The recent identification of mutations in progranulin (PGRN), that cause ubiquitin-positive …
Nowadays, mutations in PGRN gene are considered a major cause of FTLD. We identified a …

… Mutations in the GRN gene can lead to frontotemporal lobar degeneration (FTLD), a cause
… -associated progressive increase of ubiquitin-positive cytoplasmic aggregates of lipofuscin in …

… , Melquist S, Kuntz K, Petersen R et al (2006) Mutations in progranulin are a major cause
of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 15: 2988–3001Crossref…

… plasma progranulin levels in 160 GRN mutation carriers … GRN carriers, depicting the
largest population analyzed so far. This is … Null mutations in progranulin cause ubiquitin-positive …

… autosomal dominant mutations in three genes, progranulin (… Less common mutations in
other genes encoding TAR DNA … that microglia are the major source of GPNMB and galectin-3 …