Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin
P Caroppo, I Le Ber, A Camuzat, F Clot… - JAMA …, 2014 - jamanetwork.com
Importance Mutations in the progranulin (GRN) gene are responsible for 20% of familial
cases of frontotemporal dementias. All cause haploinsufficiency of progranulin, a protein …
cases of frontotemporal dementias. All cause haploinsufficiency of progranulin, a protein …
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family
N Brouwers, K Nuytemans, J van der Zee… - Archives of …, 2007 - jamanetwork.com
Background Progranulin gene (PGRN) haploinsufficiency was recently associated with
ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17q21 (FTLDU …
ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17q21 (FTLDU …
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 …
The neuropathology and clinical phenotype of FTD with progranulin mutations
IRA Mackenzie - Acta neuropathologica, 2007 - Springer
Mutations in the progranulin gene (PGRN), on chromosome 17q21, have recently been
identified as a major cause of familial frontotemporal dementia (FTD). These cases have a …
identified as a major cause of familial frontotemporal dementia (FTD). These cases have a …
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 …
Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease
N Brouwers, K Sleegers, S Engelborghs… - Neurology, 2008 - AAN Enterprises
Objective: Loss-of-function mutations in the progranulin gene (PGRN) were identified in
frontotemporal lobar degeneration (FTLD) with ubiquitin-immunoreactive neuronal …
frontotemporal lobar degeneration (FTLD) with ubiquitin-immunoreactive neuronal …
Progranulin: normal function and role in neurodegeneration
JL Eriksen, IRA Mackenzie - Journal of neurochemistry, 2008 - Wiley Online Library
Progranulin (PGRN) is a multifunctional protein that has attracted significant attention in the
neuroscience community following the recent discovery of PGRN mutations in some cases …
neuroscience community following the recent discovery of PGRN mutations in some cases …
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
Frontotemporal dementia (FTD) with ubiquitin-immunoreactive neuronal inclusions (both
cytoplasmic and nuclear) of unknown nature has been linked to a chromosome 17q21 …
cytoplasmic and nuclear) of unknown nature has been linked to a chromosome 17q21 …
Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration
AS Chen-Plotkin, F Geser, JB Plotkin… - Human molecular …, 2008 - academic.oup.com
Frontotemporal lobar degeneration is a fatal neurodegenerative disease that results in
progressive decline in behavior, executive function and sometimes language. Disease …
progressive decline in behavior, executive function and sometimes language. Disease …
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series
Mutations in the progranulin gene (GRN) are a major cause of frontotemporal lobar
degeneration with ubiquitin-positive, tau-negative inclusions (FTLD-U) but the distinguishing …
degeneration with ubiquitin-positive, tau-negative inclusions (FTLD-U) but the distinguishing …