Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
J Gass, A Cannon, IR Mackenzie… - Human molecular …, 2006 - academic.oup.com
… frequency of PGRN mutations in all dementia patients. Our findings show that mutations in
PGRN are a major cause of FTLD-U, expand the range of PGRN mutations identified to date …
PGRN are a major cause of FTLD-U, expand the range of PGRN mutations identified to date …
Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions With Progranulin Gene (PGRN) Mutations
KA Josephs, Z Ahmed, O Katsuse… - … of Neuropathology & …, 2007 - academic.oup.com
… had ubiquitin-positive inclusions in the frontotemporal neocortex, … suggested that some PGRN
mutation carriers may have motor … for familial frontotemporal lobar degeneration with motor …
mutation carriers may have motor … for familial frontotemporal lobar degeneration with motor …
Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations
JL Whitwell, CR Jack, M Baker… - Archives of …, 2007 - jamanetwork.com
… inclusions and those with ubiquitin-positive inclusions. Two … that mutations in the progranulin
gene (PGRN) are associated with frontotemporal lobar degeneration with ubiquitin-positive …
gene (PGRN) are associated with frontotemporal lobar degeneration with ubiquitin-positive …
Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
JC Van Swieten, P Heutink - The Lancet Neurology, 2008 - thelancet.com
… Mutations in the gene that encodes progranulin (GRN) on chromosome 17q21–22 have
been identified in patients with hereditary FTD who have tau-negative, ubiquitin-positive …
been identified in patients with hereditary FTD who have tau-negative, ubiquitin-positive …
… is a familial frontotemporal lobar degeneration with ubiquitin‐positive, tau‐negative inclusions caused by a missense mutation in the signal peptide of progranulin
… dominant frontotemporal dementia with ubiquitin-positive, tau-… null mutations in the
progranulin gene (PGRN). Hereditary dysphasic disinhibition dementia (HDDD) is a frontotemporal …
progranulin gene (PGRN). Hereditary dysphasic disinhibition dementia (HDDD) is a frontotemporal …
Loss of progranulin function in frontotemporal lobar degeneration
M Cruts, C Van Broeckhoven - Trends in Genetics, 2008 - cell.com
… Frontotemporal lobar degeneration (FTLD) represents a … with mutations in microtubule-associated
protein tau (MAPT), and more recently with loss-of-function mutations in progranulin (…
protein tau (MAPT), and more recently with loss-of-function mutations in progranulin (…
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation
MI Behrens, O Mukherjee, P Tu, RM Liscic… - Alzheimer Disease & …, 2007 - journals.lww.com
… to distinguish different frontotemporal lobar degenerations (FTLDs), and progranulin (PRGN)
mutation analysis. … In conclusion, HDDD1 is an FTLD-U caused by a PGRN mutation and is …
mutation analysis. … In conclusion, HDDD1 is an FTLD-U caused by a PGRN mutation and is …
Frontotemporal lobar degeneration through loss of progranulin function
M Goedert, MG Spillantini - Brain, 2006 - academic.oup.com
… family, consistent with each mutation resulting in a loss of function of the mutant allele.
This study suggests that the presence of ubiquitin-positive lentiform intranuclear inclusions in …
This study suggests that the presence of ubiquitin-positive lentiform intranuclear inclusions in …
Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update
J Van Der Zee, I Gijselinck, D Pirici… - Neurodegenerative …, 2007 - karger.com
… C: Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked
to chromosome 17q21. Nature 2006;442:920–924. 18 Skibinski G, Parkinson NJ, Brown JM, …
to chromosome 17q21. Nature 2006;442:920–924. 18 Skibinski G, Parkinson NJ, Brown JM, …
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene
IRA Mackenzie, M Baker, S Pickering-Brown… - Brain, 2006 - academic.oup.com
… The most common pathology in frontotemporal dementia (FTD) is tau-… , we identified mutations
in the progranulin (PGRN) gene as the cause of … FTLD with ubiquitin-positive inclusions …
in the progranulin (PGRN) gene as the cause of … FTLD with ubiquitin-positive inclusions …