Abstract

This has been an exciting year for the non-Alzheimer dementais, most especially because of the cloning of the PGRN gene in some cases of disease. We have found several families with PGRN mutations and have papers now published and in press on this in collaboration with a group in Toronto and with NINDS intramural program? ? We have also found novel tau mutations which affect exon 10 splicing of tau by a novel mechanism and which has been published this year.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Intramural Research (Z01)
Project #
1Z01AG000951-05
Application #
7326490
Study Section
(LNG)
Project Start
Project End
Budget Start
Budget End
Support Year
5
Fiscal Year
2006
Total Cost
Indirect Cost

  Institution

Name
Aging
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Guerreiro, Rita; Ross, Owen A; Kun-Rodrigues, Celia et al. (2018) Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. Lancet Neurol 17:64-74
Kun-Rodrigues, Celia; Ross, Owen A; Orme, Tatiana et al. (2017) Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiol Aging 49:214.e13-214.e15
Guerreiro, Rita; Escott-Price, Valentina; Darwent, Lee et al. (2016) Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiol Aging 38:214.e7-214.e10
Sassi, Celeste; Capozzo, Rosa; Gibbs, Raphael et al. (2016) A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy. J Alzheimers Dis 53:475-85
Tranah, Gregory J; Yokoyama, Jennifer S; Katzman, Shana M et al. (2014) Mitochondrial DNA sequence associations with dementia and amyloid-? in elderly African Americans. Neurobiol Aging 35:442.e1-8
Federoff, Monica; Jimenez-Rolando, Belen; Nalls, Michael A et al. (2012) A large study reveals no association between APOE and Parkinson's disease. Neurobiol Dis 46:389-92
Tranah, Gregory J; Nalls, Michael A; Katzman, Shana M et al. (2012) Mitochondrial DNA sequence variation associated with dementia and cognitive function in the elderly. J Alzheimers Dis 32:357-72
Pearson, Justin P; Williams, Nigel M; Majounie, Elisa et al. (2011) Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol 258:647-55
Guerreiro, Rita Joao; Baquero, Miquel; Blesa, Rafael et al. (2010) Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging 31:725-31
Guerreiro, Rita J; Washecka, Nicole; Hardy, John et al. (2010) A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat 31:E1126-40

Showing the most recent 10 out of 48 publications