Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features
CM Karch, L Ezerskiy, V Redaelli, AR Giovagnoli… - Neurobiology of …, 2016 - Elsevier
GRN, the gene coding for the progranulin (PGRN) protein, was recognized as a gene linked
to frontotemporal lobar degeneration (FTLD). The first mutations identified were null …
to frontotemporal lobar degeneration (FTLD). The first mutations identified were null …
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 …
Progranulin genetic screening in frontotemporal lobar degeneration patients from central Italy
S Bagnoli, I Piaceri, A Tedde, S Piacentini… - Cellular and molecular …, 2012 - Springer
Recently, mutations in the progranulin gene (GRN) were reported to account for the vast
majority of Frontotemporal lobar Degeneration (FTLD) and a growing number of reports …
majority of Frontotemporal lobar Degeneration (FTLD) and a growing number of reports …
Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration
HH Chiang, C Forsell, L Lilius, L Öijerstedt… - European Journal of …, 2013 - nature.com
Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disease with
an age at onset generally below 65 years. Mutations in progranulin (GRN) have been …
an age at onset generally below 65 years. Mutations in progranulin (GRN) have been …
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 …
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 …
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 …
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 …
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 …