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Showing 1 to 12 of 61 entries
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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...

Numerical Simulation and Experimental Validation of Sheet Laser Forming Processes Using General Scanning Paths.

Materials (Basel, Switzerland)

Navarrete Á, Cook F, Celentano D, Cruchaga M, García-Herrera C.
PMID: 30041451
Materials (Basel). 2018 Jul 23;11(7). doi: 10.3390/ma11071262.

This work presents numerical simulations and an experimental validation of sheet laser forming processes using general scanning paths with different laser beam operating parameters (i.e., power, diameter, and scanning speed) in two specific graphite coated stainless steel blanks (i.e.,...

African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants.

Neurology. Genetics

Schindler SE, Cruchaga C, Joseph A, McCue L, Farias FHG, Wilkins CH, Deming Y, Henson RL, Mikesell RJ, Piccio L, Llibre-Guerra JJ, Moulder KL, Fagan AM, Ances BM, Benzinger TLS, Xiong C, Holtzman DM, Morris JC.
PMID: 33884297
Neurol Genet. 2021 Mar 04;7(2):e571. doi: 10.1212/NXG.0000000000000571. eCollection 2021 Apr.

OBJECTIVE: To evaluate for racial differences in triggering receptor expressed on myeloid cells 2 (TREM2), a key immune mediator in Alzheimer disease, the levels of CSF soluble TREM2 (sTREM2), and the frequency of associated genetic variants were compared in...

Sharper in the morning: Cognitive time of day effects revealed with high-frequency smartphone testing.

Journal of clinical and experimental neuropsychology

Wilks H, Aschenbrenner AJ, Gordon BA, Balota DA, Fagan AM, Musiek E, Balls-Berry J, Benzinger TLS, Cruchaga C, Morris JC, Hassenstab J.
PMID: 35037593
J Clin Exp Neuropsychol. 2022 Jan 16;1-13. doi: 10.1080/13803395.2021.2009447. Epub 2022 Jan 16.

Decades of research has established a shift from an "eveningness" preference to a "morningness" preference with increasing age. Accordingly, older adults typically have better cognition in morning hours compared to evening hours. We present the first known attempt to...

Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Human molecular genetics

Qin W, Zhou A, Zuo X, Jia L, Li F, Wang Q, Li Y, Wei Y, Jin H, Cruchaga C, Benitez BA, Jia J.
PMID: 33835157
Hum Mol Genet. 2021 May 28;30(9):811-822. doi: 10.1093/hmg/ddab090.

To identify novel risk genes and better understand the molecular pathway underlying Alzheimer's disease (AD), whole-exome sequencing was performed in 215 early-onset AD (EOAD) patients and 255 unrelated healthy controls of Han Chinese ethnicity. Subsequent validation, computational annotation and...

Cognitively normal APOE ε4 carriers have specific elevation of CSF SNAP-25.

Neurobiology of aging

Butt OH, Long JM, Henson RL, Herries E, Sutphen CL, Fagan AM, Cruchaga C, Ladenson JH, Holtzman DM, Morris JC, Ances BM, Schindler SE.
PMID: 33765432
Neurobiol Aging. 2021 Jun;102:64-72. doi: 10.1016/j.neurobiolaging.2021.02.008. Epub 2021 Feb 11.

Cerebrospinal fluid (CSF) synaptosomal-associated protein 25 (SNAP-25) and neurogranin (Ng) are recently described biomarkers for pre- and postsynaptic integrity known to be elevated in symptomatic Alzheimer disease (AD). Their relationship with Apolipoprotein E (APOE) ε4 carrier status, the major...

Severe acute neurotoxicity reflects absolute intra-carotid 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine dose in non-human primates.

Journal of neuroscience methods

Norris SA, White H, Tanenbaum A, Williams EL, Cruchaga C, Tian L, Schmidt RE, Perlmutter JS.
PMID: 34767855
J Neurosci Methods. 2021 Nov 09;366:109406. doi: 10.1016/j.jneumeth.2021.109406. Epub 2021 Nov 09.

No abstract available.

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Nature genetics

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Uitterlinden AGA, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossù P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y, Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, O'Donovan MC, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA.
PMID: 31417202
Nat Genet. 2019 Sep;51(9):1423-1424. doi: 10.1038/s41588-019-0495-7.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Identification of rare variants in Alzheimer's disease.

Frontiers in genetics

Lord J, Lu AJ, Cruchaga C.
PMID: 25389433
Front Genet. 2014 Oct 28;5:369. doi: 10.3389/fgene.2014.00369. eCollection 2014.

Much progress has been made in recent years in identifying genes involved in the risk of developing Alzheimer's disease (AD), the most common form of dementia. Yet despite the identification of over 20 disease associated loci, mainly through genome...

Relationships between big-five personality factors and Alzheimer's disease pathology in autosomal dominant Alzheimer's disease.

Alzheimer's & dementia (Amsterdam, Netherlands)

Aschenbrenner AJ, Petros J, McDade E, Wang G, Balota DA, Benzinger TL, Cruchaga C, Goate A, Xiong C, Perrin R, Fagan AM, Graff-Radford N, Ghetti B, Levin J, Weidinger E, Schofield P, Gräber S, Lee JH, Chhatwal JP, Morris JC, Bateman R, Hassenstab J.
PMID: 32587883
Alzheimers Dement (Amst). 2020 Jun 23;12(1):e12038. doi: 10.1002/dad2.12038. eCollection 2020.

INTRODUCTION: Changes in personality characteristics are associated with the onset of symptoms in Alzheimer's disease (AD) and may even precede clinical diagnosis. However, personality changes caused by disease progression can be difficult to separate from changes that occur with...

Genetic discoveries in AD using CSF amyloid and tau.

Current genetic medicine reports

Cruchaga C, Ebbert MT, Kauwe JS.
PMID: 24729949
Curr Genet Med Rep. 2014 Mar 01;2(1):23-29. doi: 10.1007/s40142-014-0031-0.

The use of cerebrospinal fluid levels of Aβ42 and pTau181 as endophenotypes for genetic studies of Alzheimer's disease (AD) has led to successful identification of both rare and common AD risk variants. In addition, this approach has provided meaningful...

Advances in Genetic and Molecular Understanding of Alzheimer's Disease.

Genes

Ibanez L, Cruchaga C, Fernández MV.
PMID: 34440421
Genes (Basel). 2021 Aug 15;12(8). doi: 10.3390/genes12081247.

Alzheimer's disease (AD) has become a common disease of the elderly for which no cure currently exists. After over 30 years of intensive research, we have gained extensive knowledge of the genetic and molecular factors involved and their interplay...

Showing 1 to 12 of 61 entries