GRN mutation spectrum and genotype–phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort
C Liu, L Dong, J Wang, J Li, X Huang, D Lei… - Journal of Medical …, 2024 - jmg.bmj.com
Background Methods The GRN mutations, especially of the loss of function type, are
causative of frontotemporal dementia (FTD). However, several GRN variants can be found in …
causative of frontotemporal dementia (FTD). However, several GRN variants can be found in …
Novel GRN mutations in Alzheimer's disease and frontotemporal lobar degeneration
I Piaceri, D Imperiale, E Ghidoni… - Journal of …, 2018 - content.iospress.com
Background: During the twentieth century, frontotemporal dementia (FTD) was often
misdiagnosed, confused with Alzheimer's disease or psychiatric disorders, jeopardizing care …
misdiagnosed, confused with Alzheimer's disease or psychiatric disorders, jeopardizing care …
GRN variability contributes to sporadic frontotemporal lobar degeneration
D Galimberti, C Fenoglio, F Cortini… - Journal of …, 2010 - content.iospress.com
Mutations in the progranulin gene (GRN) are responsible for familial FTLD with ubiquitin
pathology (FTLD-U). However, there are controversial data regarding the contribution of …
pathology (FTLD-U). However, there are controversial data regarding the contribution of …
Association of the variant Cys139Arg at GRN gene to the clinical spectrum of frontotemporal lobar degeneration
I Piaceri, S Pradella, C Cupidi… - Journal of …, 2014 - content.iospress.com
Background: Progranulin protein (PGRN) is a cysteine-rich growth factor encoded by the
progranulin gene (GRN). PGRN mutations were identified in patients with frontotemporal …
progranulin gene (GRN). PGRN mutations were identified in patients with frontotemporal …
Novel GRN mutations in Koreans with Alzheimer's disease
L Shen, SSA An, E Bagyinszky, V Van Giau… - Molecular & Cellular …, 2019 - Springer
Backgrounds Alzheimer's disease (AD) and fronto-temporal dementia (FTD) are the two
most common neurodegenerative diseases leading to early onset dementia (< 65 years) …
most common neurodegenerative diseases leading to early onset dementia (< 65 years) …
GRN deletion in familial frontotemporal dementia showing association with clinical variability in 3 familial cases
G Milan, S Napoletano, S Pappatà, MT Gentile… - Neurobiology of …, 2017 - Elsevier
Progranulin (GRN) gene mutations have been genetically associated with frontotemporal
dementia (FTD) and are present in about 23% of patients with familial FTD. However, the …
dementia (FTD) and are present in about 23% of patients with familial FTD. However, the …
Clinical, neuropathological, and genetic characteristics of the novel IVS9+ 1delG GRN mutation in a patient with frontotemporal dementia
Frontotemporal lobar degeneration (FTLD) refers to a clinically, pathologically, and
genetically heterogeneous group of dementias that arises from the degeneration of the …
genetically heterogeneous group of dementias that arises from the degeneration of the …
GRN Missense Variants and Familial Alzheimer's Disease: Two Case Reports
A Ingannato, V Bessi, A Chiari… - Journal of …, 2023 - content.iospress.com
Background: Progranulin protein (GRN) is a growth factor, encoded by the GRN (Granulin
precursor) gene, involved in several functions including inflammation, wound repair, signal …
precursor) gene, involved in several functions including inflammation, wound repair, signal …
Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene
G Marcon, G Rossi, G Giaccone… - Journal of …, 2011 - content.iospress.com
Mutations in the progranulin gene (GRN) were recently identified as an important cause of
familial frontotemporal dementia (FTD). More than 60 pathogenic mutations have been …
familial frontotemporal dementia (FTD). More than 60 pathogenic mutations have been …
[HTML][HTML] A novel GRN mutation in an Italian patient with non-fluent variant of primary progressive aphasia at onset: a longitudinal case report
V Castelnovo, E Canu, T Domi, L Pozzi… - Frontiers in …, 2023 - frontiersin.org
Objectives We report the clinical presentation and evolution of a case with a novel
Progranulin gene (GRN) mutation and non-fluent language disturbances at onset. Materials …
Progranulin gene (GRN) mutation and non-fluent language disturbances at onset. Materials …