Progranulin mutations in clinical and neuropathological Alzheimer's disease
BN Vardarajan, D Reyes‐Dumeyer… - Alzheimer's & …, 2022 - Wiley Online Library
Introduction Progranulin (GRN) mutations occur in frontotemporal lobar degeneration
(FTLD) and in Alzheimer's disease (AD), often with TDP‐43 pathology. Methods We …
(FTLD) and in Alzheimer's disease (AD), often with TDP‐43 pathology. Methods We …
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 …
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 …
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 …
Progranulin gene mutations in Chinese patients with frontotemporal dementia: a case report and literature review
M Chu, H Nan, D Jiang, L Liu, A Huang… - Journal of …, 2023 - content.iospress.com
Background: Progranulin (GRN) mutations in frontotemporal dementia (FTD) have been less
frequently reported in China than in Western countries. Objective: This study reports a novel …
frequently reported in China than in Western countries. Objective: This study reports a novel …
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 …
Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA‐binding protein 43 inclusions) in missense progranulin mutation C ys139 …
V Redaelli, G Rossi, E Maderna, GG Kovacs… - Brain …, 2018 - Wiley Online Library
Null mutations in progranulin gene (GRN) reduce the progranulin production resulting in
haploinsufficiency and are tightly associated with tau‐negative frontotemporal lobar …
haploinsufficiency and are tightly associated with tau‐negative frontotemporal lobar …
Novel progranulin variants do not disrupt progranulin secretion and cleavage
CM Karch, AT Jeng, T Skorupa, C Cruchaga… - Neurobiology of …, 2013 - Elsevier
A subset of frontotemporal dementia cases are neuropathologically defined by tau-negative,
TAR DNA-binding protein-43, and ubiquitin-positive inclusions in the brain and are …
TAR DNA-binding protein-43, and ubiquitin-positive inclusions in the brain and are …
Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia
C Wilke, F Gillardon, C Deuschle, MA Hobert… - Neurodegenerative …, 2017 - karger.com
Abstract Background and Objective: Reduced progranulin levels are a hallmark of
frontotemporal dementia (FTD) caused by loss-of-function (LoF) mutations in the progranulin …
frontotemporal dementia (FTD) caused by loss-of-function (LoF) mutations in the progranulin …
Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive …
M Carecchio, C Fenoglio, M De Riz, I Guidi… - Journal of the …, 2009 - Elsevier
Progranulin (GRN) mutations are associated with different clinical phenotypes, including
Frontotemporal Lobar Degeneration (FTLD), Corticobasal Degeneration and Alzheimer's …
Frontotemporal Lobar Degeneration (FTLD), Corticobasal Degeneration and Alzheimer's …