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
Background Frontotemporal dementia (FTD) is predominantly a presenile disorder that is
characterised by behavioural changes and cognitive impairment, particularly in language …
characterised by behavioural changes and cognitive impairment, particularly in language …
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration
CE Yu, TD Bird, LM Bekris, TJ Montine… - Archives of …, 2010 - jamanetwork.com
Background Mutation in the progranulin gene (GRN) can cause frontotemporal dementia
(FTD). However, it is unclear whether some rare FTD-relatedGRNvariants are pathogenic …
(FTD). However, it is unclear whether some rare FTD-relatedGRNvariants are pathogenic …
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration
AS Chen-Plotkin, M Martinez-Lage… - Archives of …, 2011 - jamanetwork.com
Objective To assess the relative frequency of unique mutations and their associated
characteristics in 97 individuals with mutations in progranulin (GRN), an important cause of …
characteristics in 97 individuals with mutations in progranulin (GRN), an important cause of …
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→ T (Arg493X) mutation: an international initiative
R Rademakers, M Baker, J Gass, J Adamson… - The Lancet …, 2007 - thelancet.com
Background The progranulin gene (GRN) is mutated in 5–10% of patients with
frontotemporal lobar degeneration (FTLD) and in about 20% of patients with familial FTLD …
frontotemporal lobar degeneration (FTLD) and in about 20% of patients with familial FTLD …
Progranulin null mutations in both sporadic and familial frontotemporal dementia
I Le Ber, J van Der Zee, D Hannequin… - Human …, 2007 - Wiley Online Library
Frontotemporal dementia (FTD) is the second most frequent type of neurodegenerative
dementias. Mutations in the progranulin gene (GRN, PGRN) were recently identified in …
dementias. Mutations in the progranulin gene (GRN, PGRN) were recently identified in …
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members
Mutations in the progranulin gene (GRN) are an important cause of frontotemporal lobar
degeneration (FTLD) with ubiquitin and TAR DNA-binding protein 43 (TDP43)-positive …
degeneration (FTLD) with ubiquitin and TAR DNA-binding protein 43 (TDP43)-positive …
Characteristics of frontotemporal dementia patients with a Progranulin mutation
ED Huey, J Grafman, EM Wassermann… - Annals of Neurology …, 2006 - Wiley Online Library
Abstract Objective Mutations in the Progranulin gene (PGRN) recently have been
discovered to be associated with frontotemporal dementia (FTD) linked to 17q21 without …
discovered to be associated with frontotemporal dementia (FTD) linked to 17q21 without …
Serum biomarker for progranulin‐associated frontotemporal lobar degeneration
K Sleegers, N Brouwers, P Van Damme… - Annals of Neurology …, 2009 - Wiley Online Library
Objective Mutations that lead to a loss of progranulin (PGRN) explain a considerable portion
of the occurrence of frontotemporal lobar degeneration. We tested a biomarker allowing …
of the occurrence of frontotemporal lobar degeneration. We tested a biomarker allowing …
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
Null mutations in the progranulin gene (PGRN) were recently reported to cause tau-negative
frontotemporal dementia linked to chromosome 17. We assessed the genetic contribution of …
frontotemporal dementia linked to chromosome 17. We assessed the genetic contribution of …
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia
R Rademakers, JL Eriksen, M Baker… - Human molecular …, 2008 - academic.oup.com
Loss-of-function mutations in progranulin (GRN) cause ubiquitin-and TAR DNA-binding
protein 43 (TDP-43)-positive frontotemporal dementia (FTLD-U), a progressive …
protein 43 (TDP-43)-positive frontotemporal dementia (FTLD-U), a progressive …