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 …
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 …
Progranulin expression in the developing and adult murine brain
TL Petkau, SJ Neal, PC Orban… - Journal of …, 2010 - Wiley Online Library
Frontotemporal lobar degeneration (FTLD) is a neurodegenerative condition characterized
by focal degeneration of the frontal and temporal lobes of the brain. Autosomal dominantly …
by focal degeneration of the frontal and temporal lobes of the brain. Autosomal dominantly …
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 deficiency decreases gross neural connectivity but enhances transmission at individual synapses
L Tapia, A Milnerwood, A Guo, F Mills… - Journal of …, 2011 - Soc Neuroscience
Frontotemporal dementia (FTD) has been linked to mutations in the progranulin gene (GRN)
that lead to progranulin (PGRN) haploinsufficiency. Thus far, our understanding of the effects …
that lead to progranulin (PGRN) haploinsufficiency. Thus far, our understanding of the effects …
Molecular pathways of frontotemporal lobar degeneration
K Sleegers, M Cruts… - Annual review of …, 2010 - annualreviews.org
Frontotemporal lobar degeneration (FTLD) is a neurodegenerative condition that
predominantly affects behavior, social awareness, and language. It is characterized by …
predominantly affects behavior, social awareness, and language. It is characterized by …
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update
I Gijselinck, C Van Broeckhoven, M Cruts - Human mutation, 2008 - Wiley Online Library
Mutations in the gene encoding granulin (HUGO gene symbol GRN, also referred to as
progranulin, PGRN), located at chromosome 17q21, were recently linked to tau‐negative …
progranulin, PGRN), located at chromosome 17q21, were recently linked to tau‐negative …
Brain magnetic resonance imaging structural changes in a pedigree of asymptomatic progranulin mutation carriers
Mutations in the progranulin (PGRN) gene have been recently demonstrated as a cause of
frontotemporal lobar degeneration (FTLD) with ubiquitin-immunoreactive neuronal inclusion …
frontotemporal lobar degeneration (FTLD) with ubiquitin-immunoreactive neuronal inclusion …
Progranulin (PGRN) expression in ALS: an immunohistochemical study
Mutations in the gene progranulin (PGRN) were recently identified as the cause of some
forms of frontotemporal dementia with ubiquitin-positive intraneuronal inclusion pathology …
forms of frontotemporal dementia with ubiquitin-positive intraneuronal inclusion pathology …
Progranulin mutations as risk factors for Alzheimer disease
DC Perry, M Lehmann, JS Yokoyama… - JAMA …, 2013 - jamanetwork.com
Importance Mutations in the progranulin gene are known to cause diverse clinical
syndromes, all attributed to frontotemporal lobar degeneration. We describe 2 patients with …
syndromes, all attributed to frontotemporal lobar degeneration. We describe 2 patients with …