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A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2.
Karsak M, Glebov K, Scheffold M, Bajaj T, Kawalia A, Karaca I, Rading S, Kornhuber J, Peters O, Diez-Fairen M, Frölich L, Hüll M, Wiltfang J, Scherer M, Riedel-Heller S, Schneider A, Heneka MT, Fliessbach K, Sharaf A, Thiele H, Lennarz M, Jessen F, Maier W, Kubisch C, Ignatova Z, Nürnberg P, Pastor P, Walter J, Ramirez A. Karsak M, et al. Among authors: hull m. Hum Mutat. 2020 Jan;41(1):169-181. doi: 10.1002/humu.23904. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31464095
Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes.
Thelen M, Razquin C, Hernández I, Gorostidi A, Sánchez-Valle R, Ortega-Cubero S, Wolfsgruber S, Drichel D, Fliessbach K, Duenkel T, Damian M, Heilmann S, Slotosch A, Lennarz M, Seijo-Martínez M, Rene R, Kornhuber J, Peters O, Luckhaus C, Jahn H, Hüll M, Rüther E, Wiltfang J, Lorenzo E, Gascon J, Lleó A, Lladó A, Campdelacreu J, Moreno F, Ahmadzadehfar H; Dementia Genetics Spanish Consortium (DEGESCO); Fortea J, Indakoetxea B, Heneka MT, Wetter A, Pastor MA, Riverol M, Becker T, Frölich L, Tárraga L, Boada M, Wagner M, Jessen F, Maier W, Clarimón J, López de Munain A, Ruiz A, Pastor P, Ramirez A. Thelen M, et al. Among authors: hull m. Neurobiol Aging. 2014 Nov;35(11):2657.e13-2657.e19. doi: 10.1016/j.neurobiolaging.2014.06.018. Epub 2014 Jun 20. Neurobiol Aging. 2014. PMID: 25042114
SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease.
Ramirez A, van der Flier WM, Herold C, Ramonet D, Heilmann S, Lewczuk P, Popp J, Lacour A, Drichel D, Louwersheimer E, Kummer MP, Cruchaga C, Hoffmann P, Teunissen C, Holstege H, Kornhuber J, Peters O, Naj AC, Chouraki V, Bellenguez C, Gerrish A; International Genomics of Alzheimer's Project (IGAP); Alzheimer's Disease Neuroimaging Initiative (ADNI); Heun R, Frölich L, Hüll M, Buscemi L, Herms S, Kölsch H, Scheltens P, Breteler MM, Rüther E, Wiltfang J, Goate A, Jessen F, Maier W, Heneka MT, Becker T, Nöthen MM. Ramirez A, et al. Among authors: hull m. Hum Mol Genet. 2014 Dec 15;23(24):6644-58. doi: 10.1093/hmg/ddu372. Epub 2014 Jul 15. Hum Mol Genet. 2014. PMID: 25027320 Free PMC article.
PLD3 in non-familial Alzheimer's disease.
Heilmann S, Drichel D, Clarimon J, Fernández V, Lacour A, Wagner H, Thelen M, Hernández I, Fortea J, Alegret M, Blesa R, Mauleón A, Roca MR, Kornhuber J, Peters O, Heun R, Frölich L, Hüll M, Heneka MT, Rüther E, Riedel-Heller S, Scherer M, Wiltfang J, Jessen F, Becker T, Tárraga L, Boada M, Maier W, Lleó A, Ruiz A, Nöthen MM, Ramirez A. Heilmann S, et al. Among authors: hull m. Nature. 2015 Apr 2;520(7545):E3-5. doi: 10.1038/nature14039. Nature. 2015. PMID: 25832411 No abstract available.
No association of the variant rs11887120 in DNMT3A with cognitive decline in individuals with mild cognitive impairment.
Bey K, Wolfsgruber S, Karaca I, Wagner H, Lardenoije R, Becker J, Milz E, Kornhuber J, Peters O, Frölich L, Hüll M, Rüther E, Wiltfang J, Riedel-Heller S, Scherer M, Jessen F, Maier W, van den Hove DL, Rutten BP, Wagner M, Ramirez A. Bey K, et al. Among authors: hull m. Epigenomics. 2016 May;8(5):593-8. doi: 10.2217/epi-2015-0014. Epub 2016 Apr 19. Epigenomics. 2016. PMID: 27092400
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M,… See abstract for full author list ➔ Bellenguez C, et al. Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4. Nat Genet. 2022. PMID: 35379992 Free PMC article.
TREM2 variants in Alzheimer's disease.
Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J; Alzheimer Genetic Analysis Group. Guerreiro R, et al. N Engl J Med. 2013 Jan 10;368(2):117-27. doi: 10.1056/NEJMoa1211851. Epub 2012 Nov 14. N Engl J Med. 2013. PMID: 23150934 Free PMC article.
Genetic interaction of PICALM and APOE is associated with brain atrophy and cognitive impairment in Alzheimer's disease.
Morgen K, Ramirez A, Frölich L, Tost H, Plichta MM, Kölsch H, Rakebrandt F, Rienhoff O, Jessen F, Peters O, Jahn H, Luckhaus C, Hüll M, Gertz HJ, Schröder J, Hampel H, Teipel SJ, Pantel J, Heuser I, Wiltfang J, Rüther E, Kornhuber J, Maier W, Meyer-Lindenberg A. Morgen K, et al. Among authors: hull m. Alzheimers Dement. 2014 Oct;10(5 Suppl):S269-76. doi: 10.1016/j.jalz.2013.11.001. Epub 2014 Mar 6. Alzheimers Dement. 2014. PMID: 24613704
Cerebrospinal fluid cortisol and clinical disease progression in MCI and dementia of Alzheimer's type.
Popp J, Wolfsgruber S, Heuser I, Peters O, Hüll M, Schröder J, Möller HJ, Lewczuk P, Schneider A, Jahn H, Luckhaus C, Perneczky R, Frölich L, Wagner M, Maier W, Wiltfang J, Kornhuber J, Jessen F. Popp J, et al. Among authors: hull m. Neurobiol Aging. 2015 Feb;36(2):601-7. doi: 10.1016/j.neurobiolaging.2014.10.031. Epub 2014 Oct 31. Neurobiol Aging. 2015. PMID: 25435336
The Latent Dementia Phenotype δ is Associated with Cerebrospinal Fluid Biomarkers of Alzheimer's Disease and Predicts Conversion to Dementia in Subjects with Mild Cognitive Impairment.
Koppara A, Wolfsgruber S, Kleineidam L, Schmidtke K, Frölich L, Kurz A, Schulz S, Hampel H, Heuser I, Peters O, Reischies FM, Jahn H, Luckhaus C, Hüll M, Gertz HJ, Schröder J, Pantel J, Rienhoff O, Rüther E, Henn F, Wiltfang J, Maier W, Jessen F, Kornhuber J, Wagner M. Koppara A, et al. Among authors: hull m. J Alzheimers Dis. 2016;49(2):547-60. doi: 10.3233/JAD-150257. J Alzheimers Dis. 2016. PMID: 26484902
1,395 results