A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review
T Hosaka, K Ishii, T Miura, N Mezaki, K Kasuga… - BMC neurology, 2017 - Springer
Background Progranulin gene (GRN) mutations are major causes of frontotemporal lobar
degeneration. To date, 68 pathogenic GRN mutations have been identified. However, very …
degeneration. To date, 68 pathogenic GRN mutations have been identified. However, very …
A novel loss-of-function GRN mutation p.(Tyr229*): clinical and Neuropathological features
L Kuuluvainen, M Pöyhönen… - Journal of …, 2017 - content.iospress.com
Mutations in the progranulin (GRN) gene represent about 5–10% of frontotemporal lobar
degeneration (FTLD). We describe a proband with a novel GRN mutation c. 687T> A …
degeneration (FTLD). We describe a proband with a novel GRN mutation c. 687T> A …
The missense p. Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency
D Saracino, L Sellami, F Clot, A Camuzat, F Lamari… - Neurobiology of …, 2020 - Elsevier
GRN null mutations are among the main genetic causes of frontotemporal dementia through
progranulin haploinsufficiency. Most missense mutations are considered not pathogenic …
progranulin haploinsufficiency. Most missense mutations are considered not pathogenic …
One novel GRN null mutation, two different aphasia phenotypes
Progranulin gene (GRN) mutations are among the leading causes of frontotemporal lobar
degeneration, a group of neurodegenerative diseases characterized by remarkable clinical …
degeneration, a group of neurodegenerative diseases characterized by remarkable clinical …
Clinical and molecular characterization of a novel progranulin deletion associated with different phenotypes
M Picillo, E Vitale, A Rendina… - Journal of …, 2020 - content.iospress.com
Background: Mutations in the GRN gene are causative for an autosomal dominant form of
frontotemporal dementia. Objective/Methods: The objective of the present study is to …
frontotemporal dementia. Objective/Methods: The objective of the present study is to …
Missense mutation in GRN gene affecting RNA splicing and plasma progranulin level in a family affected by frontotemporal lobar degeneration
S Luzzi, L Colleoni, P Corbetta, S Baldinelli, C Fiori… - Neurobiology of …, 2017 - Elsevier
Gene coding for progranulin, GRN, is a major gene linked to frontotemporal lobar
degeneration. While most of pathogenic GRN mutations are null mutations leading to …
degeneration. While most of pathogenic GRN mutations are null mutations leading to …
Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration
F Clot, A Rovelet-Lecrux, F Lamari, S Noël, B Keren… - Neurogenetics, 2014 - Springer
Mutations in the progranulin gene (GRN) are an important cause of frontotemporal lobar
degeneration (FTLD). Most known GRN mutations are null mutations, such as nonsense and …
degeneration (FTLD). Most known GRN mutations are null mutations, such as nonsense and …
[HTML][HTML] FTD-PSP is an unusual clinical phenotype in a frontotemporal dementia patient with a novel progranulin mutation
B Deng, Z Zheng, J Zheng, W Yang, Y Huang… - Aging and …, 2021 - ncbi.nlm.nih.gov
Progranulin (GRN) mutations are a major cause of frontotemporal dementia (FTD); the
spectrum of clinical phenotypes of FTD is much more extensive than previously reported …
spectrum of clinical phenotypes of FTD is much more extensive than previously reported …
The novel GRN g. 1159_1160delTG mutation is associated with behavioral variant frontotemporal dementia
A Calvi, SMG Cioffi, P Caffarra… - Journal of …, 2015 - content.iospress.com
Mutations in progranulin gene (GRN) are a common cause of autosomal dominant
frontotemporal lobar degeneration and are associated with a wide phenotypic …
frontotemporal lobar degeneration and are associated with a wide phenotypic …
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) …