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Showing 1 to 12 of 14 entries
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Prevention of Alzheimer's disease in high risk groups: statin therapy in subjects with PSEN1 mutations or heterozygosity for apolipoprotein E epsilon 4.

Alzheimer's research & therapy

Pollen DA, Baker S, Hinerfeld D, Swearer J, Evans BA, Evans JE, Caselli R, Rogaeva E, St George-Hyslop P, Moonis M.
PMID: 21062519
Alzheimers Res Ther. 2010 Oct 29;2(5):31. doi: 10.1186/alzrt55.

No abstract available.

Investigation of c9orf72 in 4 neurodegenerative disorders.

Archives of neurology

Xi Z, Zinman L, Grinberg Y, Moreno D, Sato C, Bilbao JM, Ghani M, Hernández I, Ruiz A, Boada M, Morón FJ, Lang AE, Marras C, Bruni A, Colao R, Maletta RG, Puccio G, Rainero I, Pinessi L, Galimberti D, Morrison KE, Moorby C, Stockton JD, Masellis M, Black SE, Hazrati LN, Liang Y, van Haersma de With J, Fornazzari L, Villagra R, Rojas-Garcia R, Clarimón J, Mayeux R, Robertson J, St George-Hyslop P, Rogaeva E.
PMID: 22964832
Arch Neurol. 2012 Dec;69(12):1583-90. doi: 10.1001/archneurol.2012.2016.

OBJECTIVE To estimate the allele frequency of C9orf72 (G4C2) repeats in amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), Alzheimer disease (AD), and Parkinson disease (PD). DESIGN The number of repeats was estimated by a 2-step genotyping strategy. For...

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration.

NPJ genomic medicine

Farhan SMK, Dilliott AA, Ghani M, Sato C, Liang E, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, St George-Hyslop P, Bulman DE, Rogaeva E, Hegele RA.
PMID: 29263818
NPJ Genom Med. 2016 Sep 21;1:16032. doi: 10.1038/npjgenmed.2016.32. eCollection 2016.

The Ontario Neurodegenerative Disease Research Initiative (ONDRI) is a multimodal, multi-year, prospective observational cohort study to characterise five diseases: (1) Alzheimer's disease (AD) or amnestic single or multidomain mild cognitive impairment (aMCI) (AD/MCI); (2) amyotrophic lateral sclerosis (ALS); (3)...

Effective Knockdown of Gene Expression in Primary Microglia With siRNA and Magnetic Nanoparticles Without Cell Death or Inflammation.

Frontiers in cellular neuroscience

Carrillo-Jimenez A, Puigdellívol M, Vilalta A, Venero JL, Brown GC, StGeorge-Hyslop P, Burguillos MA.
PMID: 30297984
Front Cell Neurosci. 2018 Sep 21;12:313. doi: 10.3389/fncel.2018.00313. eCollection 2018.

Microglia, the resident immune cells of the brain, have multiple functions in physiological and pathological conditions, including Alzheimer's disease (AD). The use of primary microglial cell cultures has proved to be a valuable tool to study microglial biology under...

Neurology. Genetics

Cuccaro ML, Carney RM, Zhang Y, Bohm C, Kunkle BW, Vardarajan BN, Whitehead PL, Cukier HN, Mayeux R, St George-Hyslop P, Pericak-Vance MA.
PMID: 27822510
Neurol Genet. 2016 Oct 26;2(6):e116. doi: 10.1212/NXG.0000000000000116. eCollection 2016 Dec.

CONCLUSIONS: The findings from this study support an important role for

Ultra-rare mutations in .

Neurology. Genetics

Vardarajan BN, Tosto G, Lefort R, Yu L, Bennett DA, De Jager PL, Barral S, Reyes-Dumeyer D, Nagy PL, Lee JH, Cheng R, Medrano M, Lantigua R, Rogaeva E, St George-Hyslop P, Mayeux R.
PMID: 28852706
Neurol Genet. 2017 Aug 24;3(5):e178. doi: 10.1212/NXG.0000000000000178. eCollection 2017 Oct.

OBJECTIVE: To identify rare coding variants segregating with late-onset Alzheimer disease (LOAD) in Caribbean Hispanic families.METHODS: Whole-exome sequencing (WES) was completed in 110 individuals from 31 Caribbean Hispanic families without RESULTS: Ten ultra-rare missense mutations in the Snf2-related CONCLUSIONS:...

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.

The Lancet. Neurology

Guerreiro R, Ross OA, Kun-Rodrigues C, Hernandez DG, Orme T, Eicher JD, Shepherd CE, Parkkinen L, Darwent L, Heckman MG, Scholz SW, Troncoso JC, Pletnikova O, Ansorge O, Clarimon J, Lleo A, Morenas-Rodriguez E, Clark L, Honig LS, Marder K, Lemstra A, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Barber I, Braae A, Brown K, Morgan K, Troakes C, Al-Sarraj S, Lashley T, Holton J, Compta Y, Van Deerlin V, Serrano GE, Beach TG, Lesage S, Galasko D, Masliah E, Santana I, Pastor P, Diez-Fairen M, Aguilar M, Tienari PJ, Myllykangas L, Oinas M, Revesz T, Lees A, Boeve BF, Petersen RC, Ferman TJ, Escott-Price V, Graff-Radford N, Cairns NJ, Morris JC, Pickering-Brown S, Mann D, Halliday GM, Hardy J, Trojanowski JQ, Dickson DW, Singleton A, Stone DJ, Bras J.
PMID: 29263008
Lancet Neurol. 2018 Jan;17(1):64-74. doi: 10.1016/S1474-4422(17)30400-3. Epub 2017 Dec 16.

BACKGROUND: Dementia with Lewy bodies is the second most common form of dementia in elderly people but has been overshadowed in the research field, partly because of similarities between dementia with Lewy bodies, Parkinson's disease, and Alzheimer's disease. So...

Neuropathological, biochemical and genetic alterations in AD.

Drug news & perspectives

St George-Hyslop PH, McLaurin J, Fraser PE.
PMID: 12937642
Drug News Perspect. 2000 Jun;13(5):281-8.

The molecular and cellular processes that lead to the production of the amyloid beta (A beta) peptide and some of the processes associated with A beta fibrillogenesis and neurotoxicity have recently been elucidated. Experimental results have suggested that abnormalities...

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

Neurobiology of aging

Kun-Rodrigues C, Ross OA, Orme T, Shepherd C, Parkkinen L, Darwent L, Hernandez D, Ansorge O, Clark LN, Honig LS, Marder K, Lemstra A, Scheltens P, van der Flier W, Louwersheimer E, Holstege H, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Barber I, Braae A, Brown K, Morgan K, Maetzler W, Berg D, Troakes C, Al-Sarraj S, Lashley T, Holton J, Compta Y, Van Deerlin V, Trojanowski JQ, Serrano GE, Beach TG, Clarimon J, Lleó A, Morenas-Rodríguez E, Lesage S, Galasko D, Masliah E, Santana I, Diez M, Pastor P, Tienari PJ, Myllykangas L, Oinas M, Revesz T, Lees A, Boeve BF, Petersen RC, Ferman TJ, Escott-Price V, Graff-Radford N, Cairns NJ, Morris JC, Stone DJ, Pickering-Brown S, Mann D, Dickson DW, Halliday GM, Singleton A, Guerreiro R, Bras J.
PMID: 27666590
Neurobiol Aging. 2017 Jan;49:214.e13-214.e15. doi: 10.1016/j.neurobiolaging.2016.08.023. Epub 2016 Sep 02.

C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis and frontotemporal dementia. To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken to assess the role of C9orf72 repeat expansions in the disease....

Amyloid-β toxicity modulates tau phosphorylation through the PAX6 signalling pathway.

Brain : a journal of neurology

Zhang Y, Zhang Y, Aman Y, Ng CT, Chau WH, Zhang Z, Yue M, Bohm C, Jia Y, Li S, Yuan Q, Griffin J, Chiu K, Wong DSM, Wang B, Jin D, Rogaeva E, Fraser PE, Fang EF, St George-Hyslop P, Song YQ.
PMID: 34428276
Brain. 2021 Oct 22;144(9):2759-2770. doi: 10.1093/brain/awab134.

The molecular link between amyloid-β plaques and neurofibrillary tangles, the two pathological hallmarks of Alzheimer's disease, is still unclear. Increasing evidence suggests that amyloid-β peptide activates multiple regulators of cell cycle pathways, including transcription factors CDKs and E2F1, leading...

Genetic markers in the diagnosis of Alzheimer's disease.

Journal of Alzheimer's disease : JAD

Rogaeva E, Tandon A, St George-Hyslop PH.
PMID: 12214050
J Alzheimers Dis. 2001 Jun;3(3):293-304. doi: 10.3233/jad-2001-3304.

Abbreviations: AD, Alzheimer's disease; AbetaPP, amyloid beta protein precursor; BACE, beta-site AbetaPP cleaving enzyme; PS1, presenilin-1; PS2, presenilin-2; APOE, apolipoprotein E; LRP, low density lipoprotein receptor-related protein; SNPs, single-nucleotide polymorphisms; A2M, alpha-2-macroglobulin. Alzheimer's disease (AD) is the most common...

F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease.

Annals of clinical and translational neurology

Tosto G, Fu H, Vardarajan BN, Lee JH, Cheng R, Reyes-Dumeyer D, Lantigua R, Medrano M, Jimenez-Velazquez IZ, Elkind MS, Wright CB, Sacco RL, Pericak-Vance M, Farrer L, Rogaeva E, St George-Hyslop P, Reitz C, Mayeux R.
PMID: 26339675
Ann Clin Transl Neurol. 2015 Aug;2(8):810-20. doi: 10.1002/acn3.223. Epub 2015 Jun 18.

OBJECTIVE: In the context of late-onset Alzheimer's disease (LOAD) over 20 genes have been identified but, aside APOE, all show small effect sizes, leaving a large part of the genetic component unexplained. Admixed populations, such as Caribbean Hispanics, can...

Showing 1 to 12 of 14 entries