[HTML][HTML] Genetics of frontotemporal lobar degeneration
D Galimberti, E Scarpini - Frontiers in neurology, 2012 - frontiersin.org
… More recently, progranulin gene (GRN) mutations were recognized in association with …
main components of the ubiquitin-positive inclusions typical of the GRN-mutated families, as well …
main components of the ubiquitin-positive inclusions typical of the GRN-mutated families, as well …
Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide
L Benussi, R Ghidoni, E Pegoiani, DV Moretti… - Neurobiology of …, 2009 - Elsevier
… to the Leu271LeufsX10 PGRN mutation, we identified three novel progranulin mutations (c.709-…
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to …
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to …
TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions
… major pathological protein of sporadic and familial frontotemporal lobar degeneration
with ubiquitin-positive… 17 was discovered as being mutations in the progranulin gene (PGRN).15, …
with ubiquitin-positive… 17 was discovered as being mutations in the progranulin gene (PGRN).15, …
Core features of frontotemporal dementia recapitulated in progranulin knockout mice
N Ghoshal, JT Dearborn, DF Wozniak, NJ Cairns - Neurobiology of disease, 2012 - Elsevier
… of progranulin gene (GRN) mutations, which cause an … the form of parenchymal
ubiquitin-positive grains and dystrophic … structures in the region were ubiquitin-positive …
ubiquitin-positive grains and dystrophic … structures in the region were ubiquitin-positive …
Frontotemporal lobar degeneration: current concepts in the light of recent advances
S Kumar‐Singh, C Van Broeckhoven - Brain pathology, 2007 - Wiley Online Library
… (97) and the recently identified progranulin gene or PGRN on … whether mutations in the
TDP-43 gene can also cause FTLD-… it is caused by a PGRN mutation and that ubiquitin-positive …
TDP-43 gene can also cause FTLD-… it is caused by a PGRN mutation and that ubiquitin-positive …
Mutations in progranulin explain atypical phenotypes with variants in MAPT
SM Pickering-Brown, M Baker, J Gass, BF Boeve… - Brain, 2006 - academic.oup.com
… the familial tauopathy Frontotemporal dementia linked to chromosome 17 (FTDP-17). …
reports of mutations in PSEN1 and MAPT associated with cases of FTD with ubiquitin-positive tau-…
reports of mutations in PSEN1 and MAPT associated with cases of FTD with ubiquitin-positive tau-…
Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutations
… Frontotemporal lobar degeneration (FTLD) is the most … FTLD have evidence of
ubiquitin-positive inclusions comprised of the … (GRN) gene is one of the major causes of …
ubiquitin-positive inclusions comprised of the … (GRN) gene is one of the major causes of …
Missense mutation in GRN gene affecting RNA splicing and plasma progranulin level in a family affected by frontotemporal lobar degeneration
S Luzzi, L Colleoni, P Corbetta, S Baldinelli, C Fiori… - Neurobiology of …, 2017 - Elsevier
… the clearly pathologic plasma progranulin levels, we decided to explore the molecular
mechanisms underlying this mutation. In … of ubiquitin-positive frontotemporal lobar degeneration …
mechanisms underlying this mutation. In … of ubiquitin-positive frontotemporal lobar degeneration …
Molecular pathology of frontotemporal lobar degenerations
… mutations are null mutations leading to haploinsufficieny. GRN is a microglial-expressed
gene and the progranulin … in atypical frontotemporal lobar degeneration with ubiquitin-positive …
gene and the progranulin … in atypical frontotemporal lobar degeneration with ubiquitin-positive …
A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology
JB Leverenz, CE Yu, TJ Montine, E Steinbart… - Brain, 2007 - academic.oup.com
… All cases with material available for immunohistochemistry had cytoplasmic and intranuclear
ubiquitin positive, tau negative inclusions that stained best with an antibody to the TDP43 …
ubiquitin positive, tau negative inclusions that stained best with an antibody to the TDP43 …