Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases
Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin
positive frontotemporal dementia (FTD) in many families. Different frequencies of these …
positive frontotemporal dementia (FTD) in many families. Different frequencies of these …
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 …
Progranulin null mutations in both sporadic and familial frontotemporal dementia
I Le Ber, J van Der Zee, D Hannequin… - Human …, 2007 - Wiley Online Library
Frontotemporal dementia (FTD) is the second most frequent type of neurodegenerative
dementias. Mutations in the progranulin gene (GRN, PGRN) were recently identified in …
dementias. Mutations in the progranulin gene (GRN, PGRN) were recently identified in …
Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease
A Rovelet-Lecrux, V Deramecourt, S Legallic… - Neurobiology of …, 2008 - Elsevier
Progranulin gene (PGRN) mutations cause ubiquitin-positive frontotemporal lobar
degeneration linked to chromosome 17 (FTLDU-17). The spectrum of known mutations …
degeneration linked to chromosome 17 (FTLDU-17). The spectrum of known mutations …
Novel progranulin mutation detected in 2 patients with FTLD
L Skoglund, T Matsui, SH Freeman… - Alzheimer Disease & …, 2011 - journals.lww.com
Frontotemporal lobar degeneration (FTLD) with ubiquitin-positive, tau-negative inclusions,
and linkage to chromosome 17 was recently found to be caused by mutations in the …
and linkage to chromosome 17 was recently found to be caused by mutations in the …
Progranulin locus deletion in frontotemporal dementia
I Gijselinck, J Van der Zee, S Engelborghs… - Human …, 2008 - Wiley Online Library
Abstract Ubiquitin‐positive, tau‐negative, frontotemporal dementia (FTD) is caused by null
mutations in progranulin (PGRN; HUGO gene symbol GRN), suggesting a haploinsufficiency …
mutations in progranulin (PGRN; HUGO gene symbol GRN), suggesting a haploinsufficiency …
Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration
J Krüger, AL Kaivorinne, B Udd… - European journal of …, 2009 - Wiley Online Library
Background and purpose: Mutations in the progranulin (PGRN) gene have recently been
associated with frontotemporal lobar degeneration (FTLD). The frequency of these mutations …
associated with frontotemporal lobar degeneration (FTLD). The frequency of these mutations …
Prominent phenotypic variability associated with mutations in Progranulin
BJ Kelley, W Haidar, BF Boeve, M Baker… - Neurobiology of …, 2009 - Elsevier
Mutations in progranulin (PGRN) are associated with frontotemporal dementia with or
without parkinsonism. We describe the prominent phenotypic variability within and among …
without parkinsonism. We describe the prominent phenotypic variability within and among …
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 …
Characteristics of frontotemporal dementia patients with a Progranulin mutation
ED Huey, J Grafman, EM Wassermann… - Annals of Neurology …, 2006 - Wiley Online Library
Abstract Objective Mutations in the Progranulin gene (PGRN) recently have been
discovered to be associated with frontotemporal dementia (FTD) linked to 17q21 without …
discovered to be associated with frontotemporal dementia (FTD) linked to 17q21 without …