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Showing 1 to 12 of 61 entries
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ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.

Neurology. Genetics

Cukier HN, Kunkle BW, Vardarajan BN, Rolati S, Hamilton-Nelson KL, Kohli MA, Whitehead PL, Dombroski BA, Van Booven D, Lang R, Dykxhoorn DM, Farrer LA, Cuccaro ML, Vance JM, Gilbert JR, Beecham GW, Martin ER, Carney RM, Mayeux R, Schellenberg GD, Byrd GS, Haines JL, Pericak-Vance MA.
PMID: 27231719
Neurol Genet. 2016 May 17;2(3):e79. doi: 10.1212/NXG.0000000000000079. eCollection 2016 Jun.

OBJECTIVE: To identify a causative variant(s) that may contribute to Alzheimer disease (AD) in African Americans (AA) in the ATP-binding cassette, subfamily A (ABC1), member 7 (ABCA7) gene, a known risk factor for late-onset AD.METHODS: Custom capture sequencing was...

Correction: Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score.

PLoS medicine

[No authors listed]
PMID: 28350793
PLoS Med. 2017 Mar 28;14(3):e1002289. doi: 10.1371/journal.pmed.1002289. eCollection 2017 Mar.

[This corrects the article DOI: 10.1371/journal.pmed.1002258.].

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...

Journal of clinical medicine

Choi KY, Lee JJ, Gunasekaran TI, Kang S, Lee W, Jeong J, Lim HJ, Zhang X, Zhu C, Won SY, Choi YY, Seo EH, Lee SC, Gim J, Chung JY, Chong A, Byun MS, Seo S, Ko PW, Han JW, McLean C, Farrell J, Lunetta KL, Miyashita A, Hara N, Won S, Choi SM, Ha JM, Jeong JH, Kuwano R, Song MK, An SSA, Lee YM, Park KW, Lee HW, Choi SH, Rhee S, Song WK, Lee JS, Mayeux R, Haines JL, Pericak-Vance MA, Choo ILH, Nho K, Kim KW, Lee DY, Kim S, Kim BC, Kim H, Jun GR, Schellenberg GD, Ikeuchi T, Farrer LA, Lee KH, Neuroimaging Initative AD.
PMID: 31426376
J Clin Med. 2019 Aug 16;8(8). doi: 10.3390/jcm8081236.

Variants in the

Rates of lobar atrophy in asymptomatic .

Alzheimer's & dementia (New York, N. Y.)

Chen Q, Boeve BF, Senjem M, Tosakulwong N, Lesnick TG, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Graff-Radford J, Graff-Radford NR, Jack CR, Jones DT, Knopman DS, Kremers WK, Lapid M, Rademakers R, Syrjanen J, Boxer AL, Rosen H, Wszolek ZK, Kantarci K.
PMID: 31388560
Alzheimers Dement (N Y). 2019 Jul 30;5:338-346. doi: 10.1016/j.trci.2019.05.010. eCollection 2019.

RESULTS: The rate of temporal lobe atrophy in asymptomatic DISCUSSION: Accelerated decline in temporal lobe volume occurs in asymptomatic

Apolipoproteins and Alzheimer's pathophysiology.

Alzheimer's & dementia (Amsterdam, Netherlands)

Koch M, DeKosky ST, Fitzpatrick AL, Furtado JD, Lopez OL, Kuller LH, Mackey RH, Hughes TM, Mukamal KJ, Jensen MK.
PMID: 30370330
Alzheimers Dement (Amst). 2018 Aug 10;10:545-553. doi: 10.1016/j.dadm.2018.07.001. eCollection 2018.

INTRODUCTION: Apolipoproteins of demonstrated importance to brain cholesterol and ß-amyloid metabolism may serve as novel risk markers for Alzheimer's pathology.METHODS: We measured apolipoproteins (apoE, apoJ, apoA-I, and apoC-III and their uniquely defined subspecies) by enzyme-linked immunosorbent assay in plasma...

Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease.

Frontiers in neuroscience

Fernández MV, Budde J, Del-Aguila JL, Ibañez L, Deming Y, Harari O, Norton J, Morris JC, Goate AM, Cruchaga C.
PMID: 29670507
Front Neurosci. 2018 Apr 04;12:209. doi: 10.3389/fnins.2018.00209. eCollection 2018.

Gene-based tests to study the combined effect of rare variants on a particular phenotype have been widely developed for case-control studies, but their evolution and adaptation for family-based studies, especially studies of complex incomplete families, has been slower. In...

Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.

Annals of clinical and translational neurology

Raghavan NS, Brickman AM, Andrews H, Manly JJ, Schupf N, Lantigua R, Wolock CJ, Kamalakaran S, Petrovski S, Tosto G, Vardarajan BN, Goldstein DB, Mayeux R.
PMID: 30009200
Ann Clin Transl Neurol. 2018 May 24;5(7):832-842. doi: 10.1002/acn3.582. eCollection 2018 Jul.

OBJECTIVE: The genetic bases of Alzheimer's disease remain uncertain. An international effort to fully articulate genetic risks and protective factors is underway with the hope of identifying potential therapeutic targets and preventive strategies. The goal here was to identify...

Retinal imaging demonstrates reduced capillary density in clinically unimpaired .

Alzheimer's & dementia (Amsterdam, Netherlands)

Elahi FM, Ashimatey SB, Bennett DJ, Walters SM, La Joie R, Jiang X, Wolf A, Cobigo Y, Staffaroni AM, Rosen HJ, Miller BL, Rabinovici GD, Kramer JH, Green AJ, Kashani AH.
PMID: 34013017
Alzheimers Dement (Amst). 2021 May 11;13(1):e12181. doi: 10.1002/dad2.12181. eCollection 2021.

INTRODUCTION: Apolipoprotein E (METHODS: We collected retinal optical coherence tomography angiography, cognitive testing, and brain imaging in research participants and built statistical models to test genotype-phenotype associations.RESULTS: Our analyses demonstrate lower retinal capillary densities in early disease, in cognitively...

Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants.

Nature communications

Sanders B, D'Andrea D, Collins MO, Rees E, Steward TGJ, Zhu Y, Chapman G, Legge SE, Pardiñas AF, Harwood AJ, Gray WP, O'Donovan MC, Owen MJ, Errington AC, Blake DJ, Whitcomb DJ, Pocklington AJ, Shin E.
PMID: 35031607
Nat Commun. 2022 Jan 14;13(1):27. doi: 10.1038/s41467-021-27601-0.

Coordinated programs of gene expression drive brain development. It is unclear which transcriptional programs, in which cell-types, are affected in neuropsychiatric disorders such as schizophrenia. Here we integrate human genetics with transcriptomic data from differentiation of human embryonic stem...

Lower White Matter Volume and Worse Executive Functioning Reflected in Higher Levels of Plasma GFAP among Older Adults with and Without Cognitive Impairment.

Journal of the International Neuropsychological Society : JINS

Asken BM, VandeVrede L, Rojas JC, Fonseca C, Staffaroni AM, Elahi FM, Lindbergh CA, Apple AC, You M, Weiner-Light S, Brathaban N, Fernandes N, Boxer AL, Miller BL, Rosen HJ, Kramer JH, Casaletto KB.
PMID: 34158138
J Int Neuropsychol Soc. 2021 Jun 22;1-12. doi: 10.1017/S1355617721000813. Epub 2021 Jun 22.

OBJECTIVE: There are minimal data directly comparing plasma neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) in aging and neurodegenerative disease research. We evaluated associations of plasma NfL and plasma GFAP with brain volume and cognition in two...

Lower White Matter Volume and Worse Executive Functioning Reflected in Higher Levels of Plasma GFAP among Older Adults with and Without Cognitive Impairment.

Journal of the International Neuropsychological Society : JINS

Asken BM, VandeVrede L, Rojas JC, Fonseca C, Staffaroni AM, Elahi FM, Lindbergh CA, Apple AC, You M, Weiner-Light S, Brathaban N, Fernandes N, Boxer AL, Miller BL, Rosen HJ, Kramer JH, Casaletto KB.
PMID: 34158138
J Int Neuropsychol Soc. 2021 Jun 22;1-12. doi: 10.1017/S1355617721000813. Epub 2021 Jun 22.

OBJECTIVE: There are minimal data directly comparing plasma neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) in aging and neurodegenerative disease research. We evaluated associations of plasma NfL and plasma GFAP with brain volume and cognition in two...

Showing 1 to 12 of 61 entries