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 …
Progranulin locus deletion in frontotemporal dementia
I Gijselinck, J Van der Zee, S Engelborghs… - Human …, 2008 - Wiley Online Library
Abstract Ubiquitin‐positive, tau‐negative, frontotemporal dementia (FTD) is caused by null
mutations in progranulin (PGRN; HUGO gene symbol GRN), suggesting a haploinsufficiency …
mutations in progranulin (PGRN; HUGO gene symbol GRN), suggesting a haploinsufficiency …
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) …
the presence of two major phenotypes: 1) behavioral and personality disorder, and 2) …
Prominent phenotypic variability associated with mutations in Progranulin
BJ Kelley, W Haidar, BF Boeve, M Baker… - Neurobiology of …, 2009 - Elsevier
Mutations in progranulin (PGRN) are associated with frontotemporal dementia with or
without parkinsonism. We describe the prominent phenotypic variability within and among …
without parkinsonism. We describe the prominent phenotypic variability within and among …
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 collection of neurodegenerative
diseases of frontal and temporal brain regions. It has long been associated with mutations in …
diseases of frontal and temporal brain regions. It has long been associated with mutations in …
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-negative, ubiquitin-
immunoreactive (ub-ir) neuronal inclusions (FTLD-U). Recently, we identified mutations in …
immunoreactive (ub-ir) neuronal inclusions (FTLD-U). Recently, we identified mutations in …
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 …
mechanism underlying frontotemporal dementia (FTD) with ubiquitin‐positive brain …
Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia
JS Snowden, SM Pickering-Brown, IR Mackenzie… - Brain, 2006 - academic.oup.com
Frontotemporal lobar degeneration (FTLD) refers to a focal, non-Alzheimer form of cerebral
degeneration that encompasses the distinct clinical syndromes of frontotemporal dementia …
degeneration that encompasses the distinct clinical syndromes of frontotemporal dementia …
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 …
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 …