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Items: 1 to 50 of 699

1.

Novel Alzheimer's disease risk genes: exhaustive investigation is paramount.

Sleegers K, Van Broeckhoven C.

Acta Neuropathol. 2019 Jul 12. doi: 10.1007/s00401-019-02041-9. [Epub ahead of print] No abstract available.

PMID:
31300866
2.

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome.

De Coster W, De Rijk P, De Roeck A, De Pooter T, D'Hert S, Strazisar M, Sleegers K, Van Broeckhoven C.

Genome Res. 2019 Jul;29(7):1178-1187. doi: 10.1101/gr.244939.118. Epub 2019 Jun 11.

3.

Association of short-term cognitive decline and MCI-to-AD dementia conversion with CSF, MRI, amyloid- and 18F-FDG-PET imaging.

Ottoy J, Niemantsverdriet E, Verhaeghe J, De Roeck E, Struyfs H, Somers C, Wyffels L, Ceyssens S, Van Mossevelde S, Van den Bossche T, Van Broeckhoven C, Ribbens A, Bjerke M, Stroobants S, Engelborghs S, Staelens S.

Neuroimage Clin. 2019;22:101771. doi: 10.1016/j.nicl.2019.101771. Epub 2019 Mar 13.

4.

The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics.

De Roeck A, Van Broeckhoven C, Sleegers K.

Acta Neuropathol. 2019 Mar 22. doi: 10.1007/s00401-019-01994-1. [Epub ahead of print] Review.

PMID:
30903345
5.

Newest Methods for Detecting Structural Variations.

De Coster W, Van Broeckhoven C.

Trends Biotechnol. 2019 Mar 19. pii: S0167-7799(19)30036-8. doi: 10.1016/j.tibtech.2019.02.003. [Epub ahead of print] Review.

6.

Validation of the Erlangen Score Algorithm for Differential Dementia Diagnosis in Autopsy-Confirmed Subjects.

Somers C, Lewczuk P, Sieben A, Van Broeckhoven C, De Deyn PP, Kornhuber J, Martin JJ, Bjerke M, Engelborghs S.

J Alzheimers Dis. 2019;68(3):1151-1159. doi: 10.3233/JAD-180563.

7.

Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.

Cacace R, Heeman B, Van Mossevelde S, De Roeck A, Hoogmartens J, De Rijk P, Gossye H, De Vos K, De Coster W, Strazisar M, De Baets G, Schymkowitz J, Rousseau F, Geerts N, De Pooter T, Peeters K, Sieben A, Martin JJ, Engelborghs S, Salmon E, Santens P, Vandenberghe R, Cras P, P De Deyn P, C van Swieten J, M van Duijn C, van der Zee J, Sleegers K, Van Broeckhoven C; BELNEU Consortium.

Acta Neuropathol. 2019 Jun;137(6):901-918. doi: 10.1007/s00401-019-01976-3. Epub 2019 Mar 14.

8.

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

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, Roschupkin 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 Jr, 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, Andre Uitterlinden AG, 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; Alzheimer Disease Genetics Consortium (ADGC),; European Alzheimer’s Disease Initiative (EADI),; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE),; Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES),, 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, C O'Donovan M, 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.

Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2. Epub 2019 Feb 28.

PMID:
30820047
9.

Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation.

Gómez-Tortosa E, Baradaran-Heravi Y, González Alvarez V, Sainz MJ, Prieto-Jurczynska C, Guerrero-López R, Agüero Rabes P, Van Broeckhoven C, van der Zee J, Rábano Gutiérrez A; EU EOD Consortium.

Neurobiol Aging. 2019 Apr;76:214.e11-214.e15. doi: 10.1016/j.neurobiolaging.2018.11.010. Epub 2018 Nov 20.

PMID:
30545478
10.

MRI predictors of amyloid pathology: results from the EMIF-AD Multimodal Biomarker Discovery study.

Ten Kate M, Redolfi A, Peira E, Bos I, Vos SJ, Vandenberghe R, Gabel S, Schaeverbeke J, Scheltens P, Blin O, Richardson JC, Bordet R, Wallin A, Eckerstrom C, Molinuevo JL, Engelborghs S, Van Broeckhoven C, Martinez-Lage P, Popp J, Tsolaki M, Verhey FRJ, Baird AL, Legido-Quigley C, Bertram L, Dobricic V, Zetterberg H, Lovestone S, Streffer J, Bianchetti S, Novak GP, Revillard J, Gordon MF, Xie Z, Wottschel V, Frisoni G, Visser PJ, Barkhof F.

Alzheimers Res Ther. 2018 Sep 27;10(1):100. doi: 10.1186/s13195-018-0428-1.

11.

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.

Zhang M, Ferrari R, Tartaglia MC, Keith J, Surace EI, Wolf U, Sato C, Grinberg M, Liang Y, Xi Z, Dupont K, McGoldrick P, Weichert A, McKeever PM, Schneider R, McCorkindale MD, Manzoni C, Rademakers R, Graff-Radford NR, Dickson DW, Parisi JE, Boeve BF, Petersen RC, Miller BL, Seeley WW, van Swieten JC, van Rooij J, Pijnenburg Y, van der Zee J, Van Broeckhoven C, Le Ber I, Van Deerlin V, Suh E, Rohrer JD, Mead S, Graff C, Öijerstedt L, Pickering-Brown S, Rollinson S, Rossi G, Tagliavini F, Brooks WS, Dobson-Stone C, Halliday GM, Hodges JR, Piguet O, Binetti G, Benussi L, Ghidoni R, Nacmias B, Sorbi S, Bruni AC, Galimberti D, Scarpini E, Rainero I, Rubino E, Clarimon J, Lleó A, Ruiz A, Hernández I, Pastor P, Diez-Fairen M, Borroni B, Pasquier F, Deramecourt V, Lebouvier T, Perneczky R, Diehl-Schmid J, Grafman J, Huey ED, Mayeux R, Nalls MA, Hernandez D, Singleton A, Momeni P, Zeng Z, Hardy J, Robertson J, Zinman L, Rogaeva E; International FTD-Genomics Consortium (IFGC).

Brain. 2018 Oct 1;141(10):2895-2907. doi: 10.1093/brain/awy238.

12.

Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease.

Gusareva ES, Twizere JC, Sleegers K, Dourlen P, Abisambra JF, Meier S, Cloyd R, Weiss B, Dermaut B, Bessonov K, van der Lee SJ, Carrasquillo MM, Katsumata Y, Cherkaoui M, Asselbergh B, Ikram MA, Mayeux R, Farrer LA, Haines JL, Pericak-Vance MA, Schellenberg GD; Genetic and Environmental Risk in Alzheimer's Disease 1 consortium (GERAD1); Alzheimer's Disease Genetics Consortium (ADGC); European Alzheimer Disease Initiative Investigators (EADI1 Consortium), Sims R, Williams J, Amouyel P, van Duijn CM, Ertekin-Taner N, Van Broeckhoven C, Dequiedt F, Fardo DW, Lambert JC, Van Steen K.

Neurobiol Aging. 2018 Dec;72:188.e3-188.e12. doi: 10.1016/j.neurobiolaging.2018.08.001. Epub 2018 Aug 9.

13.

The EMIF-AD Multimodal Biomarker Discovery study: design, methods and cohort characteristics.

Bos I, Vos S, Vandenberghe R, Scheltens P, Engelborghs S, Frisoni G, Molinuevo JL, Wallin A, Lleó A, Popp J, Martinez-Lage P, Baird A, Dobson R, Legido-Quigley C, Sleegers K, Van Broeckhoven C, Bertram L, Ten Kate M, Barkhof F, Zetterberg H, Lovestone S, Streffer J, Visser PJ.

Alzheimers Res Ther. 2018 Jul 6;10(1):64. doi: 10.1186/s13195-018-0396-5.

14.

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
15.

Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.

Martins S, Yigit H, Bohndorf M, Graffmann N, Fiszl AR, Wruck W, Sleegers K, Van Broeckhoven C, Adjaye J.

Stem Cell Res. 2018 Jul;30:141-144. doi: 10.1016/j.scr.2018.05.018. Epub 2018 Jun 1.

16.

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients.

Baradaran-Heravi Y, Dillen L, Nguyen HP, Van Mossevelde S, Baets J, De Jonghe P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenberghe R, Van Damme P, Cras P, Salmon E, Synofzik M, Heutink P, Wilke C, Simon-Sanchez J, Rojas-Garcia R, Turon-Sans J, Lleó A, Illán-Gala I, Clarimón J, Borroni B, Padovani A, Pastor P, Diez-Fairen M, Aguilar M, Gelpi E, Sanchez-Valle R, Borrego-Ecija S, Matej R, Parobkova E, Nacmias B, Sorbi S, Bagnoli S, de Mendonça A, Ferreira C, Fraidakis MJ, Diehl-Schmid J, Alexopoulos P, Almeida MR, Santana I, Van Broeckhoven C, van der Zee J; BELNEU Consortium; EU EOD Consortium.

Neurobiol Aging. 2018 Sep;69:293.e9-293.e11. doi: 10.1016/j.neurobiolaging.2018.05.005. Epub 2018 May 23.

17.

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.

18.

A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS.

Lehmer C, Schludi MH, Ransom L, Greiling J, Junghänel M, Exner N, Riemenschneider H, van der Zee J, Van Broeckhoven C, Weydt P, Heneka MT, Edbauer D.

EMBO Mol Med. 2018 Jun;10(6). pii: e8558. doi: 10.15252/emmm.201708558.

19.

Genotype-phenotype links in frontotemporal lobar degeneration.

Van Mossevelde S, Engelborghs S, van der Zee J, Van Broeckhoven C.

Nat Rev Neurol. 2018 Jun;14(6):363-378. doi: 10.1038/s41582-018-0009-8. Review.

PMID:
29777184
20.

GFRA2 in GRN-related frontotemporal lobar degeneration.

Wauters E, Van Broeckhoven C.

Lancet Neurol. 2018 Jun;17(6):488-489. doi: 10.1016/S1474-4422(18)30171-6. Epub 2018 Apr 30. No abstract available.

PMID:
29724593
21.

Clinical variability and onset age modifiers in an extended Belgian GRN founder family.

Wauters E, Van Mossevelde S, Sleegers K, van der Zee J, Engelborghs S, Sieben A, Vandenberghe R, Philtjens S, Van den Broeck M, Peeters K, Cuijt I, De Coster W, Van Langenhove T, Santens P, Ivanoiu A, Cras P, De Bleecker JL, Versijpt J, Crols R, De Klippel N, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C; Belgian Neurology (BELNEU) Consortium.

Neurobiol Aging. 2018 Jul;67:84-94. doi: 10.1016/j.neurobiolaging.2018.03.007. Epub 2018 Mar 10.

22.

ALS Genes in the Genomic Era and their Implications for FTD.

Nguyen HP, Van Broeckhoven C, van der Zee J.

Trends Genet. 2018 Jun;34(6):404-423. doi: 10.1016/j.tig.2018.03.001. Epub 2018 Mar 28. Review.

23.

Lymphoblast-derived integration-free iPSC line AD-TREM2-1 from a 67year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant.

Martins S, Yigit H, Bohndorf M, Graffmann N, Fiszl AR, Wruck W, Sleegers K, Van Broeckhoven C, Adjaye J.

Stem Cell Res. 2018 May;29:60-63. doi: 10.1016/j.scr.2018.03.011. Epub 2018 Mar 20.

24.

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease.

De Roeck A, Duchateau L, Van Dongen J, Cacace R, Bjerke M, Van den Bossche T, Cras P, Vandenberghe R, De Deyn PP, Engelborghs S, Van Broeckhoven C, Sleegers K; BELNEU Consortium.

Acta Neuropathol. 2018 Jun;135(6):827-837. doi: 10.1007/s00401-018-1841-z. Epub 2018 Mar 27.

25.

Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration.

Goossens J, Bjerke M, Van Mossevelde S, Van den Bossche T, Goeman J, De Vil B, Sieben A, Martin JJ, Cras P, De Deyn PP, Van Broeckhoven C, van der Zee J, Engelborghs S.

Alzheimers Res Ther. 2018 Mar 20;10(1):31. doi: 10.1186/s13195-018-0364-0.

26.

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.

Philtjens S, Van Mossevelde S, van der Zee J, Wauters E, Dillen L, Vandenbulcke M, Vandenberghe R, Ivanoiu A, Sieben A, Willems C, Benussi L, Ghidoni R, Binetti G, Borroni B, Padovani A, Pastor P, Diez-Fairen M, Aguilar M, de Mendonça A, Miltenberger-Miltényi G, Hernández I, Boada M, Ruiz A, Nacmias B, Sorbi S, Almeida MR, Santana I, Clarimón J, Lleó A, Frisoni GB, Sanchez-Valle R, Lladó A, Gómez-Tortosa E, Gelpi E, Van den Broeck M, Peeters K, Cras P, De Deyn PP, Engelborghs S, Cruts M, Van Broeckhoven C; BELNEU Consortium; EU EOD Consortium.

Neurobiol Aging. 2018 Jun;66:181.e3-181.e10. doi: 10.1016/j.neurobiolaging.2018.02.011. Epub 2018 Feb 17.

27.

NanoPack: visualizing and processing long-read sequencing data.

De Coster W, D'Hert S, Schultz DT, Cruts M, Van Broeckhoven C.

Bioinformatics. 2018 Aug 1;34(15):2666-2669. doi: 10.1093/bioinformatics/bty149.

28.

Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family.

Sieben A, Van Mossevelde S, Wauters E, Engelborghs S, van der Zee J, Van Langenhove T, Santens P, Praet M, Boon P, Miatton M, Van Hoecke S, Vandenbulcke M, Vandenberghe R, Cras P, Cruts M, De Deyn PP, Van Broeckhoven C, Martin JJ.

Alzheimers Res Ther. 2018 Jan 22;10(1):7. doi: 10.1186/s13195-017-0334-y.

29.

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.

van den Ameele J, Jedlickova I, Pristoupilova A, Sieben A, Van Mossevelde S, Ceuterick-de Groote C, Hůlková H, Matej R, Meurs A, Van Broeckhoven C, Berkovic SF, Santens P, Kmoch S, Dermaut B.

Neurology. 2018 Feb 20;90(8):e658-e663. doi: 10.1212/WNL.0000000000004999. Epub 2018 Jan 19.

PMID:
29352102
30.

Lymphoblast-derived integration-free ISRM-CON9 iPS cell line from a 75year old female.

Martins S, Bohndorf M, Schröter F, Assar F, Wruck W, Sleegers K, Van Broeckhoven C, Adjaye J.

Stem Cell Res. 2018 Jan;26:76-79. doi: 10.1016/j.scr.2017.12.007. Epub 2017 Dec 13.

31.

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort.

Verheijen J, van der Zee J, Gijselinck I, Van den Bossche T, Dillen L, Heeman B, Gómez-Tortosa E, Lladó A, Sanchez-Valle R, Graff C, Pastor P, Pastor MA, Benussi L, Ghidoni R, Binetti G, Clarimon J, de Mendonça A, Gelpi E, Tsolaki M, Diehl-Schmid J, Nacmias B, Almeida MR, Borroni B, Matej R, Ruiz A, Engelborghs S, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K; BELNEU Consortium; EU EOD Consortium.

Neurobiol Aging. 2018 Feb;62:245.e1-245.e7. doi: 10.1016/j.neurobiolaging.2017.10.012. Epub 2017 Oct 25.

32.

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients.

Nguyen HP, Van Mossevelde S, Dillen L, De Bleecker JL, Moisse M, Van Damme P, Van Broeckhoven C, van der Zee J; BELNEU Consortium.

Neurobiol Aging. 2018 Jan;61:255.e1-255.e7. doi: 10.1016/j.neurobiolaging.2017.08.021. Epub 2017 Aug 31.

33.

Modifiers of GRN-Associated Frontotemporal Lobar Degeneration.

Wauters E, Van Mossevelde S, Van der Zee J, Cruts M, Van Broeckhoven C.

Trends Mol Med. 2017 Oct;23(10):962-979. doi: 10.1016/j.molmed.2017.08.004. Epub 2017 Sep 7. Review.

PMID:
28890134
34.

The Cerebrospinal Fluid Aβ1-42/Aβ1-40 Ratio Improves Concordance with Amyloid-PET for Diagnosing Alzheimer's Disease in a Clinical Setting.

Niemantsverdriet E, Ottoy J, Somers C, De Roeck E, Struyfs H, Soetewey F, Verhaeghe J, Van den Bossche T, Van Mossevelde S, Goeman J, De Deyn PP, Mariën P, Versijpt J, Sleegers K, Van Broeckhoven C, Wyffels L, Albert A, Ceyssens S, Stroobants S, Staelens S, Bjerke M, Engelborghs S.

J Alzheimers Dis. 2017;60(2):561-576. doi: 10.3233/JAD-170327.

35.

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.

36.

No added diagnostic value of non-phosphorylated tau fraction (p-taurel) in CSF as a biomarker for differential dementia diagnosis.

Goossens J, Bjerke M, Struyfs H, Niemantsverdriet E, Somers C, Van den Bossche T, Van Mossevelde S, De Vil B, Sieben A, Martin JJ, Cras P, Goeman J, De Deyn PP, Van Broeckhoven C, van der Zee J, Engelborghs S.

Alzheimers Res Ther. 2017 Jul 14;9(1):49. doi: 10.1186/s13195-017-0275-5.

37.

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene.

Thonberg H, Chiang HH, Lilius L, Forsell C, Lindström AK, Johansson C, Björkström J, Thordardottir S, Sleegers K, Van Broeckhoven C, Rönnbäck A, Graff C.

Acta Neuropathol Commun. 2017 Jun 9;5(1):43. doi: 10.1186/s40478-017-0441-9.

38.

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.

De Roeck A, Van den Bossche T, van der Zee J, Verheijen J, De Coster W, Van Dongen J, Dillen L, Baradaran-Heravi Y, Heeman B, Sanchez-Valle R, Lladó A, Nacmias B, Sorbi S, Gelpi E, Grau-Rivera O, Gómez-Tortosa E, Pastor P, Ortega-Cubero S, Pastor MA, Graff C, Thonberg H, Benussi L, Ghidoni R, Binetti G, de Mendonça A, Martins M, Borroni B, Padovani A, Almeida MR, Santana I, Diehl-Schmid J, Alexopoulos P, Clarimon J, Lleó A, Fortea J, Tsolaki M, Koutroumani M, Matěj R, Rohan Z, De Deyn P, Engelborghs S, Cras P, Van Broeckhoven C, Sleegers K; European Early-Onset Dementia (EU EOD) consortium.

Acta Neuropathol. 2017 Sep;134(3):475-487. doi: 10.1007/s00401-017-1714-x. Epub 2017 Apr 27.

39.

Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation.

Gómez-Tortosa E, Van der Zee J, Ruggiero M, Gijselinck I, Esteban-Pérez J, García-Redondo A, Borrego-Hernández D, Navarro E, Sainz MJ, Pérez-Pérez J, Cruts M, Van Broeckhoven C, Guerrero-López R; EU EOD Consortium.

J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):996-997. doi: 10.1136/jnnp-2016-315250. Epub 2017 Apr 1. No abstract available.

PMID:
28365590
40.

Genetic Alzheimer Disease and Sporadic Dementia With Lewy Bodies: A Comorbidity Presenting as Primary Progressive Aphasia.

Picková T, Matěj R, Bezdicek O, Keller J, van der Zee J, Van Broeckhoven C, Cséfalvay Z, Rusina R.

Cogn Behav Neurol. 2017 Mar;30(1):23-29. doi: 10.1097/WNN.0000000000000116.

PMID:
28323683
41.

Relationship between C9orf72 repeat size and clinical phenotype.

Van Mossevelde S, van der Zee J, Cruts M, Van Broeckhoven C.

Curr Opin Genet Dev. 2017 Jun;44:117-124. doi: 10.1016/j.gde.2017.02.008. Epub 2017 Mar 17. Review.

42.

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion.

Van Mossevelde S, van der Zee J, Gijselinck I, Sleegers K, De Bleecker J, Sieben A, Vandenberghe R, Van Langenhove T, Baets J, Deryck O, Santens P, Ivanoiu A, Willems C, Bäumer V, Van den Broeck M, Peeters K, Mattheijssens M, De Jonghe P, Cras P, Martin JJ, Cruts M, De Deyn PP, Engelborghs S, Van Broeckhoven C; Belgian Neurology (BELNEU) Consortium.

JAMA Neurol. 2017 Apr 1;74(4):445-452. doi: 10.1001/jamaneurol.2016.4847.

PMID:
28192553
43.

The Genetics of C9orf72 Expansions.

Gijselinck I, Cruts M, Van Broeckhoven C.

Cold Spring Harb Perspect Med. 2018 Apr 2;8(4). pii: a026757. doi: 10.1101/cshperspect.a026757. Review.

PMID:
28130313
44.

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.

Perrone F, Nguyen HP, Van Mossevelde S, Moisse M, Sieben A, Santens P, De Bleecker J, Vandenbulcke M, Engelborghs S, Baets J, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Martin JJ, Van Damme P, Van Broeckhoven C, van der Zee J; Belgian Neurology consortium.

Neurobiol Aging. 2017 Mar;51:177.e9-177.e16. doi: 10.1016/j.neurobiolaging.2016.12.008. Epub 2016 Dec 21.

45.

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, Le Ber I, Van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Sorarù G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al-Chalabi A.

Neurobiol Aging. 2017 Mar;51:178.e1-178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010. Epub 2016 Nov 24.

46.

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

van der Zee J, Gijselinck I, Van Mossevelde S, Perrone F, Dillen L, Heeman B, Bäumer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-García R, Clarimón J, Lleó A, Diehl-Schmid J, Alexopoulos P, Perneczky R, Synofzik M, Just J, Schöls L, Graff C, Thonberg H, Borroni B, Padovani A, Jordanova A, Sarafov S, Tournev I, de Mendonça A, Miltenberger-Miltényi G, Simões do Couto F, Ramirez A, Jessen F, Heneka MT, Gómez-Tortosa E, Danek A, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Sleegers K, Cruts M, Van Broeckhoven C, Goeman J, Nuytten D, Smets K, Robberecht W, Damme PV, Bleecker J, Santens P, Dermaut B, Versijpt J, Michotte A, Ivanoiu A, Deryck O, Bergmans B, Delbeck J, Bruyland M, Willems C, Salmon E, Pastor P, Ortega-Cubero S, Benussi L, Ghidoni R, Binetti G, Hernández I, Boada M, Ruiz A, Sorbi S, Nacmias B, Bagnoli S, Sorbi S, Sanchez-Valle R, Llado A, Santana I, Rosário Almeida M, Frisoni GB, Maetzler W, Matej R, Fraidakis MJ, Kovacs GG, Fabrizi GM, Testi S.

Hum Mutat. 2017 Mar;38(3):297-309. doi: 10.1002/humu.23161. Epub 2017 Jan 19.

47.

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study.

Wang L, Heckman MG, Aasly JO, Annesi G, Bozi M, Chung SJ, Clarke C, Crosiers D, Eckstein G, Garraux G, Hadjigeorgiou GM, Hattori N, Jeon B, Kim YJ, Kubo M, Lesage S, Lin JJ, Lynch T, Lichtner P, Mellick GD, Mok V, Morrison KE, Quattrone A, Satake W, Silburn PA, Stefanis L, Stockton JD, Tan EK, Toda T, Brice A, Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM, Gasser T, Krüger R, Farrer MJ, Ross OA, Sharma M; GEOPD Consortium.

Neurobiol Aging. 2017 Jan;49:217.e1-217.e4. doi: 10.1016/j.neurobiolaging.2016.09.022. Epub 2016 Oct 6.

48.

Lymphoblast-derived integration-free iPSC lines from a female and male Alzheimer's disease patient expressing different copy numbers of a coding CNV in the Alzheimer risk gene CR1.

Schröter F, Sleegers K, Van Cauwenberghe C, Bohndorf M, Wruck W, Van Broeckhoven C, Adjaye J.

Stem Cell Res. 2016 Nov;17(3):560-563. doi: 10.1016/j.scr.2016.10.003. Epub 2016 Oct 19.

49.

Lymphoblast-derived integration-free iPS cell line from a female 67-year-old Alzheimer's disease patient with TREM2 (R47H) missense mutation.

Schröter F, Sleegers K, Cuyvers E, Bohndorf M, Wruck W, Van Broeckhoven C, Adjaye J.

Stem Cell Res. 2016 Nov;17(3):553-555. doi: 10.1016/j.scr.2016.10.005. Epub 2016 Oct 20.

50.

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.

van der Zee J, Mariën P, Crols R, Van Mossevelde S, Dillen L, Perrone F, Engelborghs S, Verhoeven J, D'aes T, Ceuterick-De Groote C, Sieben A, Versijpt J, Cras P, Martin JJ, Van Broeckhoven C.

Neurol Genet. 2016 Sep 16;2(5):e102. doi: 10.1212/NXG.0000000000000102. eCollection 2016 Oct.

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