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Items: 1 to 20 of 116

1.

ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans.

Conway OJ, Carrasquillo MM, Wang X, Bredenberg JM, Reddy JS, Strickland SL, Younkin CS, Burgess JD, Allen M, Lincoln SJ, Nguyen T, Malphrus KG, Soto AI, Walton RL, Boeve BF, Petersen RC, Lucas JA, Ferman TJ, Cheshire WP, van Gerpen JA, Uitti RJ, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Ertekin-Taner N.

Mol Neurodegener. 2018 Oct 11;13(1):53. doi: 10.1186/s13024-018-0289-x.

2.

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, Leber M, Chen Y, Albert MS, Riedel-Heller S, Emilsson V, Beekly D, Braae A, Schmidt R, Blacker D, Masullo C, Schmidt H, Doody RS, Spalletta G, Longstreth WT Jr, Fairchild TJ, Bossù P, Lopez OL, Frosch MP, Sacchinelli E, Ghetti B, Yang Q, Huebinger RM, Jessen F, Li S, Kamboh MI, Morris J, Sotolongo-Grau O, Katz MJ, Corcoran C, Dunstan M, Braddel A, Thomas C, Meggy A, Marshall R, Gerrish A, Chapman J, Aguilar M, Taylor S, Hill M, Fairén MD, Hodges A, Vellas B, Soininen H, Kloszewska I, Daniilidou M, Uphill J, Patel Y, Hughes JT, Lord J, Turton J, Hartmann AM, Cecchetti R, Fenoglio C, Serpente M, Arcaro M, Caltagirone C, Orfei MD, Ciaramella A, Pichler S, Mayhaus M, Gu W, Lleó A, Fortea J, Blesa R, Barber IS, Brookes K, Cupidi C, Maletta RG, Carrell D, Sorbi S, Moebus S, Urbano M, Pilotto A, Kornhuber J, Bosco P, Todd S, Craig D, Johnston J, Gill M, Lawlor B, Lynch A, Fox NC, Hardy J; ARUK Consortium, Albin RL, Apostolova LG, Arnold SE, Asthana S, Atwood CS, Baldwin CT, Barnes LL, Barral S, Beach TG, Becker JT, Bigio EH, Bird TD, Boeve BF, Bowen JD, Boxer A, Burke JR, Burns JM, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carlsson CM, Carney RM, Carrasquillo MM, Carroll SL, Diaz CC, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, Dick M, Duara R, Evans DA, Faber KM, Fallon KB, Fardo DW, Farlow MR, Ferris S, Foroud TM, Galasko DR, Gearing M, Geschwind DH, Gilbert JR, Graff-Radford NR, Green RC, Growdon JH, Hamilton RL, Harrell LE, Honig LS, Huentelman MJ, Hulette CM, Hyman BT, Jarvik GP, Abner E, Jin LW, Jun G, Karydas A, Kaye JA, Kim R, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lunetta KL, Lyketsos CG, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Morris JC, Murrell JR, Myers AJ, O'Bryant S, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Perry W, Peskind E, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rogaeva E, Rosen HJ, Rosenberg RN, Sager MA, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tanzi RE, Thornton-Wells TA, 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, Garzia F, Golamaully F, Septier G, Engelborghs S, Vandenberghe R, De Deyn PP, Fernadez CM, Benito YA, Thonberg H, Forsell C, Lilius L, Kinhult-Stählbom A, Kilander L, Brundin R, Concari L, Helisalmi S, Koivisto AM, Haapasalo A, Dermecourt V, Fievet N, Hanon O, Dufouil C, Brice A, Ritchie K, Dubois B, Himali JJ, Keene CD, Tschanz J, Fitzpatrick AL, Kukull WA, Norton M, Aspelund T, Larson EB, Munger R, Rotter JI, Lipton RB, Bullido MJ, Hofman A, Montine TJ, Coto E, Boerwinkle E, Petersen RC, Alvarez V, Rivadeneira F, Reiman EM, Gallo M, O'Donnell CJ, Reisch JS, Bruni AC, Royall DR, Dichgans M, Sano M, Galimberti D, St George-Hyslop P, Scarpini E, Tsuang DW, Mancuso M, Bonuccelli U, Winslow AR, Daniele A, Wu CK; GERAD/PERADES, CHARGE, ADGC, EADI, Peters O, Nacmias B, Riemenschneider M, Heun R, Brayne C, Rubinsztein DC, Bras J, Guerreiro R, Al-Chalabi A, Shaw CE, Collinge J, Mann D, Tsolaki M, Clarimón J, Sussams R, Lovestone S, O'Donovan MC, Owen MJ, Behrens TW, Mead S, Goate AM, Uitterlinden AG, Holmes C, Cruchaga C, Ingelsson M, Bennett DA, Powell J, Golde TE, Graff C, De Jager PL, Morgan K, Ertekin-Taner N, Combarros O, Psaty BM, Passmore P, Younkin SG, Berr C, Gudnason V, Rujescu D, Dickson DW, Dartigues JF, DeStefano AL, Ortega-Cubero S, Hakonarson H, Campion D, Boada M, Kauwe JK, Farrer LA, Van Broeckhoven C, Ikram MA, Jones L, Haines JL, Tzourio C, Launer LJ, Escott-Price V, Mayeux R, Deleuze JF, Amin N, Holmans PA, Pericak-Vance MA, Amouyel P, van Duijn CM, Ramirez A, Wang LS, Lambert JC, Seshadri S, Williams J, Schellenberg GD.

Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17.

3.

Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease.

Dalmasso MC, Brusco LI, Olivar N, Muchnik C, Hanses C, Milz E, Becker J, Heilmann-Heimbach S, Hoffmann P, Prestia FA, Galeano P, Avalos MSS, Martinez LE, Carulla ME, Azurmendi PJ, Liberczuk C, Fezza C, Sampaño M, Fierens M, Jemar G, Solis P, Medel N, Lisso J, Sevillano Z, Bosco P, Bossù P, Spalletta G, Galimberti D, Mancuso M, Nacmias B, Sorbi S, Mecocci P, Pilotto A, Caffarra P, Panza F, Bullido M, Clarimon J, Sánchez-Juan P, Coto E, Sanchez-Garcia F, Graff C, Ingelsson M, Bellenguez C, Castaño EM, Kairiyama C, Politis DG, Kochen S, Scaro H, Maier W, Jessen F, Mangone CA, Lambert JC, Morelli L, Ramirez A.

Transl Psychiatry. 2019 Jan 31;9(1):55. doi: 10.1038/s41398-019-0394-9.

4.

TMEM106B haplotypes have distinct gene expression patterns in aged brain.

Ren Y, van Blitterswijk M, Allen M, Carrasquillo MM, Reddy JS, Wang X, Beach TG, Dickson DW, Ertekin-Taner N, Asmann YW, Rademakers R.

Mol Neurodegener. 2018 Jul 3;13(1):35. doi: 10.1186/s13024-018-0268-2.

5.

Rates of cerebral atrophy differ in different degenerative pathologies.

Whitwell JL, Jack CR Jr, Parisi JE, Knopman DS, Boeve BF, Petersen RC, Ferman TJ, Dickson DW, Josephs KA.

Brain. 2007 Apr;130(Pt 4):1148-58. Epub 2007 Mar 8.

6.

Association of REM sleep behavior disorder and neurodegenerative disease may reflect an underlying synucleinopathy.

Boeve BF, Silber MH, Ferman TJ, Lucas JA, Parisi JE.

Mov Disord. 2001 Jul;16(4):622-30.

PMID:
11481685
7.

A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy.

Chen JA, Wang Q, Davis-Turak J, Li Y, Karydas AM, Hsu SC, Sears RL, Chatzopoulou D, Huang AY, Wojta KJ, Klein E, Lee J, Beekly DL, Boxer A, Faber KM, Haase CM, Miller J, Poon WW, Rosen A, Rosen H, Sapozhnikova A, Shapira J, Varpetian A, Foroud TM, Levenson RW, Levey AI, Kukull WA, Mendez MF, Ringman J, Chui H, Cotman C, DeCarli C, Miller BL, Geschwind DH, Coppola G.

JAMA Neurol. 2015 Apr;72(4):414-22. doi: 10.1001/jamaneurol.2014.4040.

8.

Conserved brain myelination networks are altered in Alzheimer's and other neurodegenerative diseases.

Allen M, Wang X, Burgess JD, Watzlawik J, Serie DJ, Younkin CS, Nguyen T, Malphrus KG, Lincoln S, Carrasquillo MM, Ho C, Chakrabarty P, Strickland S, Murray ME, Swarup V, Geschwind DH, Seyfried NT, Dammer EB, Lah JJ, Levey AI, Golde TE, Funk C, Li H, Price ND, Petersen RC, Graff-Radford NR, Younkin SG, Dickson DW, Crook JR, Asmann YW, Ertekin-Taner N.

Alzheimers Dement. 2018 Mar;14(3):352-366. doi: 10.1016/j.jalz.2017.09.012. Epub 2017 Oct 31.

9.

CXCR4 involvement in neurodegenerative diseases.

Bonham LW, Karch CM, Fan CC, Tan C, Geier EG, Wang Y, Wen N, Broce IJ, Li Y, Barkovich MJ, Ferrari R, Hardy J, Momeni P, Höglinger G, Müller U, Hess CP, Sugrue LP, Dillon WP, Schellenberg GD, Miller BL, Andreassen OA, Dale AM, Barkovich AJ, Yokoyama JS, Desikan RS; International FTD-Genomics Consortium (IFGC); International Parkinson’s Disease Genetics Consortium (IPDGC); International Genomics of Alzheimer’s Project (IGAP).

Transl Psychiatry. 2018 Apr 11;8(1):73. doi: 10.1038/s41398-017-0049-7.

10.

When DLB, PD, and PSP masquerade as MSA: an autopsy study of 134 patients.

Koga S, Aoki N, Uitti RJ, van Gerpen JA, Cheshire WP, Josephs KA, Wszolek ZK, Langston JW, Dickson DW.

Neurology. 2015 Aug 4;85(5):404-12. doi: 10.1212/WNL.0000000000001807. Epub 2015 Jul 2.

11.

Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects.

Engelborghs S, Dermaut B, Goeman J, Saerens J, Mariën P, Pickut BA, Van den Broeck M, Serneels S, Cruts M, Van Broeckhoven C, De Deyn PP.

J Neurol Neurosurg Psychiatry. 2003 Aug;74(8):1148-51.

12.

Alzheimer's disease phospholipase C-gamma-2 (PLCG2) protective variant is a functional hypermorph.

Magno L, Lessard CB, Martins M, Lang V, Cruz P, Asi Y, Katan M, Bilsland J, Lashley T, Chakrabarty P, Golde TE, Whiting PJ.

Alzheimers Res Ther. 2019 Feb 2;11(1):16. doi: 10.1186/s13195-019-0469-0.

13.

123I-MIBG cardiac scintigraphy provides clues to the underlying neurodegenerative disorder in idiopathic REM sleep behavior disorder.

Miyamoto T, Miyamoto M, Suzuki K, Nishibayashi M, Iwanami M, Hirata K.

Sleep. 2008 May;31(5):717-23.

14.

Differential role of CSF fatty acid binding protein 3, α-synuclein, and Alzheimer's disease core biomarkers in Lewy body disorders and Alzheimer's dementia.

Chiasserini D, Biscetti L, Eusebi P, Salvadori N, Frattini G, Simoni S, De Roeck N, Tambasco N, Stoops E, Vanderstichele H, Engelborghs S, Mollenhauer B, Calabresi P, Parnetti L.

Alzheimers Res Ther. 2017 Jul 28;9(1):52. doi: 10.1186/s13195-017-0276-4.

15.

Glucocerebrosidase mutations in primary parkinsonism.

Asselta R, Rimoldi V, Siri C, Cilia R, Guella I, Tesei S, Soldà G, Pezzoli G, Duga S, Goldwurm S.

Parkinsonism Relat Disord. 2014 Nov;20(11):1215-20. doi: 10.1016/j.parkreldis.2014.09.003. Epub 2014 Sep 9.

16.

Clusterin CSF levels in differential diagnosis of neurodegenerative disorders.

Přikrylová Vranová H, Hényková E, Mareš J, Kaiserová M, Menšíková K, Vaštík M, Hluštík P, Zapletalová J, Strnad M, Stejskal D, Kaňovský P.

J Neurol Sci. 2016 Feb 15;361:117-21. doi: 10.1016/j.jns.2015.12.023. Epub 2015 Dec 17.

PMID:
26810527
17.

Lewy body-related alpha-synucleinopathy in the aged human brain.

Jellinger KA.

J Neural Transm (Vienna). 2004 Oct;111(10-11):1219-35. Epub 2004 Apr 2.

PMID:
15480835
18.

Mechanisms of cell death in neurodegenerative disorders.

Jellinger KA, Stadelmann C.

J Neural Transm Suppl. 2000;59:95-114.

PMID:
10961423
19.

The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease.

Stutzbach LD, Xie SX, Naj AC, Albin R, Gilman S; PSP Genetics Study Group, Lee VM, Trojanowski JQ, Devlin B, Schellenberg GD.

Acta Neuropathol Commun. 2013 Jul 6;1:31. doi: 10.1186/2051-5960-1-31.

20.

Regional microstructural damage and patterns of eye movement impairment: a DTI and video-oculography study in neurodegenerative parkinsonian syndromes.

Gorges M, Maier MN, Rosskopf J, Vintonyak O, Pinkhardt EH, Ludolph AC, Müller HP, Kassubek J.

J Neurol. 2017 Sep;264(9):1919-1928. doi: 10.1007/s00415-017-8579-8. Epub 2017 Jul 31.

PMID:
28762086

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