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Items: 1 to 20 of 819

1.

Monogenic inheritance in early-onset dementia: illustration in Alzheimer's disease and frontotemporal lobar dementia.

Barbier M, Wallon D, Le Ber I.

Geriatr Psychol Neuropsychiatr Vieil. 2018 Sep 1;16(3):289-297. doi: 10.1684/pnv.2018.0744.

PMID:
30168435
2.

Dysregulation of Neuronal Iron Homeostasis as an Alternative Unifying Effect of Mutations Causing Familial Alzheimer's Disease.

Lumsden AL, Rogers JT, Majd S, Newman M, Sutherland GT, Verdile G, Lardelli M.

Front Neurosci. 2018 Aug 13;12:533. doi: 10.3389/fnins.2018.00533. eCollection 2018.

3.

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Nicolas G, Acuna-Hidalgo R, Keogh MJ, Quenez O, Steehouwer M, Lelieveld S, Rousseau S, Richard AC, Oud MS, Marguet F, Laquerrière A, Morris CM, Attems J, Smith C, Ansorge O, Al Sarraj S, Frebourg T, Campion D, Hannequin D, Wallon D, Gilissen C, Chinnery PF, Veltman JA, Hoischen A.

Alzheimers Dement. 2018 Aug 13. pii: S1552-5260(18)33245-X. doi: 10.1016/j.jalz.2018.06.3056. [Epub ahead of print]

4.

A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease.

Giau VV, Pyun JM, Bagyinszky E, An SSA, Kim S.

Clin Interv Aging. 2018 Jul 31;13:1321-1329. doi: 10.2147/CIA.S170374. eCollection 2018.

5.

Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Karch CM, Hernández D, Wang JC, Marsh J, Hewitt AW, Hsu S, Norton J, Levitch D, Donahue T, Sigurdson W, Ghetti B, Farlow M, Chhatwal J, Berman S, Cruchaga C, Morris JC, Bateman RJ; Dominantly Inherited Alzheimer Network (DIAN), Pébay A, Goate AM.

Alzheimers Res Ther. 2018 Jul 25;10(1):69. doi: 10.1186/s13195-018-0400-0.

6.

Epileptic seizures in autosomal dominant forms of Alzheimer's disease.

Cortini F, Cantoni C, Villa C.

Seizure. 2018 Jul 19;61:4-7. doi: 10.1016/j.seizure.2018.07.015. [Epub ahead of print] Review.

PMID:
30041064
7.

Discovery and validation of autosomal dominant Alzheimer's disease mutations.

Hsu S, Gordon BA, Hornbeck R, Norton JB, Levitch D, Louden A, Ziegemeier E, Laforce R Jr, Chhatwal J, Day GS, McDade E, Morris JC, Fagan AM, Benzinger TLS, Goate AM, Cruchaga C, Bateman RJ; Dominantly Inherited Alzheimer Network (DIAN), Karch CM.

Alzheimers Res Ther. 2018 Jul 18;10(1):67. doi: 10.1186/s13195-018-0392-9.

8.

Presenilin mutations deregulate mitochondrial Ca2+ homeostasis and metabolic activity causing neurodegeneration in Caenorhabditis elegans.

Sarasija S, Laboy JT, Ashkavand Z, Bonner J, Tang Y, Norman KR.

Elife. 2018 Jul 10;7. pii: e33052. doi: 10.7554/eLife.33052.

9.

Data Mining: Applying the AD&FTD Mutation Database to Progranulin.

Cruts M, Van Broeckhoven C.

Methods Mol Biol. 2018;1806:81-92. doi: 10.1007/978-1-4939-8559-3_6.

PMID:
29956270
10.

iPSC-derived familial Alzheimer's PSEN2 N141I cholinergic neurons exhibit mutation-dependent molecular pathology corrected by insulin signaling.

Moreno CL, Della Guardia L, Shnyder V, Ortiz-Virumbrales M, Kruglikov I, Zhang B, Schadt EE, Tanzi RE, Noggle S, Buettner C, Gandy S.

Mol Neurodegener. 2018 Jun 26;13(1):33. doi: 10.1186/s13024-018-0265-5.

11.

Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.

Li Z, Del-Aguila JL, Dube U, Budde J, Martinez R, Black K, Xiao Q, Cairns NJ; Dominantly Inherited Alzheimer Network (DIAN), Dougherty JD, Lee JM, Morris JC, Bateman RJ, Karch CM, Cruchaga C, Harari O.

Genome Med. 2018 Jun 8;10(1):43. doi: 10.1186/s13073-018-0551-4.

12.

Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis.

Perrone F, Cacace R, Van Mossevelde S, Van den Bossche T, De Deyn PP, Cras P, Engelborghs S, van der Zee J, Van Broeckhoven C.

Neurobiol Aging. 2018 Sep;69:292.e7-292.e14. doi: 10.1016/j.neurobiolaging.2018.04.015. Epub 2018 May 9.

13.

The Role of Genetics in Advancing Precision Medicine for Alzheimer's Disease-A Narrative Review.

Freudenberg-Hua Y, Li W, Davies P.

Front Med (Lausanne). 2018 Apr 24;5:108. doi: 10.3389/fmed.2018.00108. eCollection 2018. Review.

14.

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Ibanez L, Dube U, Davis AA, Fernandez MV, Budde J, Cooper B, Diez-Fairen M, Ortega-Cubero S, Pastor P, Perlmutter JS, Cruchaga C, Benitez BA.

Front Neurosci. 2018 Apr 10;12:230. doi: 10.3389/fnins.2018.00230. eCollection 2018.

15.

Identification of missing variants by combining multiple analytic pipelines.

Ren Y, Reddy JS, Pottier C, Sarangi V, Tian S, Sinnwell JP, McDonnell SK, Biernacka JM, Carrasquillo MM, Ross OA, Ertekin-Taner N, Rademakers R, Hudson M, Mainzer LS, Asmann YW.

BMC Bioinformatics. 2018 Apr 16;19(1):139. doi: 10.1186/s12859-018-2151-0.

16.

The genes associated with early-onset Alzheimer's disease.

Dai MH, Zheng H, Zeng LD, Zhang Y.

Oncotarget. 2017 Dec 15;9(19):15132-15143. doi: 10.18632/oncotarget.23738. eCollection 2018 Mar 13. Review.

17.

Data-driven models of dominantly-inherited Alzheimer's disease progression.

Oxtoby NP, Young AL, Cash DM, Benzinger TLS, Fagan AM, Morris JC, Bateman RJ, Fox NC, Schott JM, Alexander DC.

Brain. 2018 May 1;141(5):1529-1544. doi: 10.1093/brain/awy050.

PMID:
29579160
18.

The genetic landscape of Alzheimer disease.

Carmona S, Hardy J, Guerreiro R.

Handb Clin Neurol. 2018;148:395-408. doi: 10.1016/B978-0-444-64076-5.00026-0. Review.

PMID:
29478590
19.

Genetics of dementia in a Finnish cohort.

Pasanen P, Myllykangas L, Pöyhönen M, Kiviharju A, Siitonen M, Hardy J, Bras J, Paetau A, Tienari PJ, Guerreiro R, Verkkoniemi-Ahola A.

Eur J Hum Genet. 2018 Jun;26(6):827-837. doi: 10.1038/s41431-018-0117-3. Epub 2018 Feb 23.

PMID:
29476165
20.

Genome-editing applications of CRISPR-Cas9 to promote in vitro studies of Alzheimer's disease.

Giau VV, Lee H, Shim KH, Bagyinszky E, An SSA.

Clin Interv Aging. 2018 Feb 7;13:221-233. doi: 10.2147/CIA.S155145. eCollection 2018. Review.

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