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Items: 20

1.

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff C, Öijerstedt L, Troakes C, Al-Sarraj S, Cruchaga C, Cairns NJ, Rohrer JD, Halliday GM, Kwok JB, van Swieten JC, White CL 3rd, Ghetti B, Murell JR, Mackenzie IRA, Hsiung GR, Borroni B, Rossi G, Tagliavini F, Wszolek ZK, Petersen RC, Bigio EH, Grossman M, Van Deerlin VM, Seeley WW, Miller BL, Graff-Radford NR, Boeve BF, Dickson DW, Biernacka JM, Rademakers R.

Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30.

PMID:
29724592
2.

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study.

Galimberti D, Fumagalli GG, Fenoglio C, Cioffi SMG, Arighi A, Serpente M, Borroni B, Padovani A, Tagliavini F, Masellis M, Tartaglia MC, van Swieten J, Meeter L, Graff C, de Mendonça A, Bocchetta M, Rohrer JD, Scarpini E; Genetic FTD Initiative (GENFI).

Neurobiol Aging. 2018 Feb;62:245.e9-245.e12. doi: 10.1016/j.neurobiolaging.2017.10.016. Epub 2017 Nov 13.

3.

Intracellular Proteolysis of Progranulin Generates Stable, Lysosomal Granulins that Are Haploinsufficient in Patients with Frontotemporal Dementia Caused by GRN Mutations.

Holler CJ, Taylor G, Deng Q, Kukar T.

eNeuro. 2017 Aug 18;4(4). pii: ENEURO.0100-17.2017. doi: 10.1523/ENEURO.0100-17.2017. eCollection 2017 Jul-Aug.

4.

Cognitive reserve and TMEM106B genotype modulate brain damage in presymptomatic frontotemporal dementia: a GENFI study.

Premi E, Grassi M, van Swieten J, Galimberti D, Graff C, Masellis M, Tartaglia C, Tagliavini F, Rowe JB, Laforce R Jr, Finger E, Frisoni GB, de Mendonça A, Sorbi S, Gazzina S, Cosseddu M, Archetti S, Gasparotti R, Manes M, Alberici A, Cardoso MJ, Bocchetta M, Cash DM, Ourselin S, Padovani A, Rohrer JD, Borroni B; Genetic FTD Initiative (GENFI).

Brain. 2017 Jun 1;140(6):1784-1791. doi: 10.1093/brain/awx103.

5.

Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data.

White CC, Yang HS, Yu L, Chibnik LB, Dawe RJ, Yang J, Klein HU, Felsky D, Ramos-Miguel A, Arfanakis K, Honer WG, Sperling RA, Schneider JA, Bennett DA, De Jager PL.

PLoS Med. 2017 Apr 25;14(4):e1002287. doi: 10.1371/journal.pmed.1002287. eCollection 2017 Apr.

6.

"New Old Pathologies": AD, PART, and Cerebral Age-Related TDP-43 With Sclerosis (CARTS).

Nelson PT, Trojanowski JQ, Abner EL, Al-Janabi OM, Jicha GA, Schmitt FA, Smith CD, Fardo DW, Wang WX, Kryscio RJ, Neltner JH, Kukull WA, Cykowski MD, Van Eldik LJ, Ighodaro ET.

J Neuropathol Exp Neurol. 2016 Jun;75(6):482-98. doi: 10.1093/jnen/nlw033. Epub 2016 May 21. Review.

PMID:
27209644
7.

Hippocampal Sclerosis of Aging, a Common Alzheimer's Disease 'Mimic': Risk Genotypes are Associated with Brain Atrophy Outside the Temporal Lobe.

Nho K, Saykin AJ; Alzheimer’s Disease Neuroimaging Initiative, Nelson PT.

J Alzheimers Dis. 2016;52(1):373-83. doi: 10.3233/JAD-160077.

8.

A novel Alzheimer disease locus located near the gene encoding tau protein.

Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, Beecham GW, Smith AV, Chouraki V, Hamilton-Nelson KL, Ikram MA, Fievet N, Denning N, Martin ER, Schmidt H, Kamatani Y, Dunstan ML, Valladares O, Laza AR, Zelenika D, Ramirez A, Foroud TM, Choi SH, Boland A, Becker T, Kukull WA, van der Lee SJ, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick AL, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett DA, Amin N, Berr C, Tsolaki M, Buxbaum JD, Lopez OL, Deramecourt V, Fox NC, Cantwell LB, Tárraga L, Dufouil C, Hardy J, Crane PK, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley TH Jr, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues JF, Hampel H, Kamboh MI, de Bruijn RF, Tzourio C, Pastor P, Larson EB, Rotter JI, O'Donovan MC, Montine TJ, Nalls MA, Mead S, Reiman EM, Jonsson PV, Holmes C, St George-Hyslop PH, Boada M, Passmore P, Wendland JR, Schmidt R, Morgan K, Winslow AR, Powell JF, Carasquillo M, Younkin SG, Jakobsdóttir J, Kauwe JS, Wilhelmsen KC, Rujescu D, Nöthen MM, Hofman A, Jones L; IGAP Consortium, Haines JL, Psaty BM, Van Broeckhoven C, Holmans P, Launer LJ, Mayeux R, Lathrop M, Goate AM, Escott-Price V, Seshadri S, Pericak-Vance MA, Amouyel P, Williams J, van Duijn CM, Schellenberg GD, Farrer LA.

Mol Psychiatry. 2016 Jan;21(1):108-17. doi: 10.1038/mp.2015.23. Epub 2015 Mar 17.

9.

The TMEM106B locus and TDP-43 pathology in older persons without FTLD.

Yu L, De Jager PL, Yang J, Trojanowski JQ, Bennett DA, Schneider JA.

Neurology. 2015 Mar 3;84(9):927-34. doi: 10.1212/WNL.0000000000001313. Epub 2015 Feb 4.

10.

Reassessment of risk genotypes (GRN, TMEM106B, and ABCC9 variants) associated with hippocampal sclerosis of aging pathology.

Nelson PT, Wang WX, Partch AB, Monsell SE, Valladares O, Ellingson SR, Wilfred BR, Naj AC, Wang LS, Kukull WA, Fardo DW.

J Neuropathol Exp Neurol. 2015 Jan;74(1):75-84. doi: 10.1097/NEN.0000000000000151.

11.

Hippocampal sclerosis in Lewy body disease is a TDP-43 proteinopathy similar to FTLD-TDP Type A.

Aoki N, Murray ME, Ogaki K, Fujioka S, Rutherford NJ, Rademakers R, Ross OA, Dickson DW.

Acta Neuropathol. 2015 Jan;129(1):53-64. doi: 10.1007/s00401-014-1358-z. Epub 2014 Nov 4.

12.

Transmembrane protein 106B gene (TMEM106B) variability and influence on progranulin plasma levels in patients with Alzheimer's disease.

Serpente M, Fenoglio C, Clerici F, Bonsi R, Arosio B, Cioffi SM, Rotondo E, Franceschi M, Martinelli Boneschi F, Mari D, Mariani C, Scarpini E, Galimberti D.

J Alzheimers Dis. 2015;43(3):757-61. doi: 10.3233/JAD-141167.

PMID:
25114081
13.

Association of TMEM106B rs1990622 marker and frontotemporal dementia: evidence for a recessive effect and meta-analysis.

Hernández I, Rosende-Roca M, Alegret M, Mauleón A, Espinosa A, Vargas L, Sotolongo-Grau O, Tárraga L, Boada M, Ruiz A.

J Alzheimers Dis. 2015;43(1):325-34. doi: 10.3233/JAD-132432.

PMID:
25096617
14.

Differential clinicopathologic and genetic features of late-onset amnestic dementias.

Murray ME, Cannon A, Graff-Radford NR, Liesinger AM, Rutherford NJ, Ross OA, Duara R, Carrasquillo MM, Rademakers R, Dickson DW.

Acta Neuropathol. 2014 Sep;128(3):411-21. doi: 10.1007/s00401-014-1302-2. Epub 2014 Jun 5.

15.

ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.

Nelson PT, Estus S, Abner EL, Parikh I, Malik M, Neltner JH, Ighodaro E, Wang WX, Wilfred BR, Wang LS, Kukull WA, Nandakumar K, Farman ML, Poon WW, Corrada MM, Kawas CH, Cribbs DH, Bennett DA, Schneider JA, Larson EB, Crane PK, Valladares O, Schmitt FA, Kryscio RJ, Jicha GA, Smith CD, Scheff SW, Sonnen JA, Haines JL, Pericak-Vance MA, Mayeux R, Farrer LA, Van Eldik LJ, Horbinski C, Green RC, Gearing M, Poon LW, Kramer PL, Woltjer RL, Montine TJ, Partch AB, Rajic AJ, Richmire K, Monsell SE; AlzheimerDisease Genetic Consortium, Schellenberg GD, Fardo DW.

Acta Neuropathol. 2014;127(6):825-43. doi: 10.1007/s00401-014-1282-2. Epub 2014 Apr 27.

16.

Expression of TMEM106B, the frontotemporal lobar degeneration-associated protein, in normal and diseased human brain.

Busch JI, Martinez-Lage M, Ashbridge E, Grossman M, Van Deerlin VM, Hu F, Lee VM, Trojanowski JQ, Chen-Plotkin AS.

Acta Neuropathol Commun. 2013 Jul 11;1:36. doi: 10.1186/2051-5960-1-36.

17.

TMEM106B and APOE polymorphisms interact to confer risk for late-onset Alzheimer's disease in Han Chinese.

Lu RC, Wang H, Tan MS, Yu JT, Tan L.

J Neural Transm (Vienna). 2014;121(3):283-7. doi: 10.1007/s00702-013-1106-x. Epub 2013 Oct 29.

PMID:
24166182
18.

[The genetics of corticobasal syndrome].

Doi H, Tanaka F.

Brain Nerve. 2013 Jan;65(1):19-30. Review. Japanese.

19.

TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease.

Rutherford NJ, Carrasquillo MM, Li M, Bisceglio G, Menke J, Josephs KA, Parisi JE, Petersen RC, Graff-Radford NR, Younkin SG, Dickson DW, Rademakers R.

Neurology. 2012 Aug 14;79(7):717-8. doi: 10.1212/WNL.0b013e318264e3ac. Epub 2012 Aug 1. No abstract available.

20.

Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels.

Cruchaga C, Graff C, Chiang HH, Wang J, Hinrichs AL, Spiegel N, Bertelsen S, Mayo K, Norton JB, Morris JC, Goate A.

Arch Neurol. 2011 May;68(5):581-6. doi: 10.1001/archneurol.2010.350. Epub 2011 Jan 10.

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