A mutation in the 5′-UTR of GRN gene associated with frontotemporal lobar degeneration: phenotypic variability and possible pathogenetic mechanisms
G Puoti, MC Lerza, MG Ferretti… - Journal of …, 2014 - content.iospress.com
Frontotemporal lobar degeneration (FTLD) is a very heterogeneous disorder. It is genetically
linked to three major genes: microtubule-associated protein tau (MAPT), progranulin (GRN) …
linked to three major genes: microtubule-associated protein tau (MAPT), progranulin (GRN) …
Clinicopathological and genetic correlates of frontotemporal lobar degeneration and corticobasal degeneration
A Lladó, R Sánchez-Valle, MJ Rey, M Ezquerra… - Journal of …, 2008 - Springer
Objective To correlate clinical diagnosis and genetic features with different pathological
substrates in patients with frontotemporal lobar degeneration (FTLD) and corticobasal …
substrates in patients with frontotemporal lobar degeneration (FTLD) and corticobasal …
Brain progranulin expression in GRN-associated frontotemporal lobar degeneration
AS Chen-Plotkin, J Xiao, F Geser, M Martinez-Lage… - Acta …, 2010 - Springer
Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is characterized by
progressive decline in behavior, executive function, and language. Progranulin (GRN) gene …
progressive decline in behavior, executive function, and language. Progranulin (GRN) gene …
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 …
Progranulin gene mutation with an unusual clinical and neuropathologic presentation
C Wider, RJ Uitti, ZK Wszolek, JY Fang… - … : official journal of the …, 2008 - Wiley Online Library
Progranulin gene (PGRN) mutations cause frontotemporal lobar degeneration with ubiquitin‐
positive inclusions (FTLD‐U). Patients usually present with a frontotemporal dementia …
positive inclusions (FTLD‐U). Patients usually present with a frontotemporal dementia …
[引用][C] Ubiquitinated p62‐positive, TDP‐43‐negative inclusions in cerebellum in frontotemporal lobar degeneration with TAR DNA binding protein 43
M Pikkarainen, P Hartikainen, I Alafuzoff - Neuropathology, 2010 - Wiley Online Library
In a recent issue of Neuropathology, King and colleagues described a case of a 65-year-old
woman with frontotemporal lobar degeneration (FTLD) with ubiquitinated, tau-negative but …
woman with frontotemporal lobar degeneration (FTLD) with ubiquitinated, tau-negative but …
Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation
A Papegaey, S Eddarkaoui, V Deramecourt… - Acta neuropathologica …, 2016 - Springer
Reduction of Tau protein expression was described in 2003 by Zhukareva et al. in a variant
of frontotemporal lobar degeneration (FTLD) referred to as diagnosis of dementia lacking …
of frontotemporal lobar degeneration (FTLD) referred to as diagnosis of dementia lacking …
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 …
protein 43 (TDP-43)-positive frontotemporal dementia (FTLD-U), a progressive …
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 …
Old age genetically confirmed frontotemporal lobar degeneration with TDP‐43 has limbic predominant TDP‐43 deposition
M Buciuc, JL Whitwell, MC Baker… - Neuropathology and …, 2021 - Wiley Online Library
Aims To assess the burden of transactive response DNA‐binding protein of 43 kDa (TDP‐
43) inclusions in a unique cohort of old‐age patients with genetic frontotemporal lobar …
43) inclusions in a unique cohort of old‐age patients with genetic frontotemporal lobar …