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 …

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

NC Finch, M Baker, R Crook, K Swanson, K Kuntz… - Brain, 2009 - academic.oup.com
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 …

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 …

Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia

O Mukherjee, J Wang, M Gitcho, S Chakraverty… - Human …, 2008 - Wiley Online Library
Frontotemporal dementia (FTD) is a clinical term encompassing dementia characterized by
the presence of two major phenotypes: 1) behavioral and personality disorder, and 2) …

Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

M Cruts, S Kumar-Singh… - Current Alzheimer …, 2006 - ingentaconnect.com
Two genetically distinct types of frontotemporal dementia (FTD) are linked to chromosome
17q21. FTD with parkinsonism (FTDP-17) results from mutations in the gene encoding …

Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD

ME Ward, A Taubes, R Chen, BL Miller… - Journal of Experimental …, 2014 - rupress.org
Frontotemporal dementia (FTD) is the most common cause of dementia in people under 60
yr of age and is pathologically associated with mislocalization of TAR DNA/RNA binding …

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 …

TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways

AS Chen-Plotkin, TL Unger, MD Gallagher… - Journal of …, 2012 - Soc Neuroscience
Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is a fatal
neurodegenerative disease with no available treatments. Mutations in the progranulin gene …

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

J van der Zee, I Le Ber, S Maurer‐Stroh… - Human …, 2007 - Wiley Online Library
Null mutations in the progranulin gene (GRN, PGRN) were recently identified as the causal
mechanism underlying frontotemporal dementia (FTD) with ubiquitin‐positive brain …

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 …