Publications

2023     2022     2021     2020     2018     2017
2016     2015     2014     2013     2012     2009
2008     2007     2006     2005     2004     2003
2002

2023

Loss of phospholipase PLAAT3 causes mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J, Program for Undiagnosed Diseases (UD-PrOZA), Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B

Nat Genet. 2023 Nov 02 55(11):1929-1940. doi: 10.1038/s41588-023-01535-3
PMID: 37919452


SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E*, Garde A*, Gautier T*, Rooney K*, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B*, Govin J*, Dermaut B*, Vitobello A*. 
Am J Hum Genet. 2023 Apr 17:S0002-9297(23)00100-3. doi: 10.1016/j.ajhg.2023.03.016. PMID: 37071997.

 C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

Ervilha Pereira P*, Schuermans N*, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B. *equal contribution
Acta Neuropathol. 2023 Mar 31. doi: 10.1007/s00401-023-02565-1. PMID: 37000196.


Tau promotes oxidative stress-associated cycling neurons in S phase as a pro-survival mechanism: possible implication for Alzheimer's disease.
Denechaud M, Geurs S, Comptdaer T, Bégard S, Garcia-Núñez A, Pechereau LA, Bouillet T, Vermeiren Y, De Deyn PP, Perbet R,  Deramecourt V, Maurage CA, Vanderhaegen M, Vanuytven S, Lefebvre B, Bogaert E, Déglon N, Voet T, Colin M, Buée L, Dermaut B*, Galas MC*. *co-last authors
Prog Neurobiol. 2022 Dec 5:102386. doi: 10.1016/j.pneurobio.2022.102386. 
PMID: 36481386.
 

2022

Moyamoya disease emerging as an immune-related angiopathy.
Asselman C, Hemelsoet D, Eggermon D, Dermaut B*, Impens F*
Trends in Molecular Medicine, September 14, 2022 - online ahead of print doi:https://doi.org/10.1016/j.molmed.2022.08.009
  *co-last authors

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).

Schuermans N, Hemelsoet D, Terryn W, Steyaert S, Van Coster R, Coucke PJ, Steyaert W, Callewaert B, Bogaert E, Verloo P, Vanlander AV, Debackere E, Ghijsels J, LeBlanc P, Verdin H, Naesens L, Haerynck F, Callens S, Dermaut B, Poppe B; for UD-PrOZA.

Orphanet J Rare Dis. 2022 May 23;17(1):210. doi: 10.1186/s13023-022-02365-y.

PMID: 35606766

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.

Naesens L, Nemegeer J, Roelens F, Vallaeys L, Meuwissen M, Janssens K, Verloo P, Ogunjimi B, Hemelsoet D; Program for Undiagnosed Rare Diseases (UD-PrOZA), Hoste L, Roels L, De Bruyne M, De Baere E, Van Dorpe J, Dendooven A, Sieben A, Rice GI, Kerre T, Beyaert R, Uggenti C, Crow YJ, Tavernier SJ, Maelfait J, Haerynck F.

J Clin Immunol. 2022 Mar 23. doi: 10.1007/s10875-022-01209-5. Online ahead of print.

PMID: 35320431 

 

Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions.
Versluys L, Ervilha Pereira P, Schuermans N, De Paepe B, De Bleecker JL, Bogaert E*, Dermaut B*.
Front Neurosci. 2022 Feb 3;16:815765. doi: 10.3389/fnins.2022.815765. eCollection 2022. PMID: 35185458 
*co-last authors

 
The Alzheimer susceptibility gene BIN1 induces isoform-dependent neurotoxicity through early endosome defects.
Lambert E, Saha O, Soares Landeira B, Melo de Farias AR, Hermant X, Carrier A, Pelletier A, Gadaut J, Davoine L, Dupont C, Amouyel P, Bonnefond A, Lafont F, Abdelfettah F, Verstreken P, Chapuis J, Barois N, Delahaye F, Dermaut B, Lambert JC, Costa MR, Dourlen P.Acta Neuropathol Commun. 2022 Jan 8;10(1):4. doi: 10.1186/s40478-021-01285-5.
PMID: 34998435 

2021

Proteome Profiling of RNF213 Depleted Cells Reveals Nitric Oxide Regulator DDAH1 Antilisterial Activity.

Martina L*, Asselman C*, Thery F*, Boucher K, Delhaye L, Maia TM, Dermaut B, Eyckerman S, Impens F.

Front Cell Infect Microbiol. 2021 Nov 3;11:735416. doi: 10.3389/fcimb.2021.735416. eCollection 2021.

PMID: 34804992 * contributed equally

Premature termination codon mutations in ABCA7 contribute to Alzheimer's disease risk in Belgian patients.

Bossaerts L, Hens E, Hanseeuw B, Vandenberghe R, Cras P, De Deyn PP, Engelborghs S, Van Broeckhoven C; BELNEU Consortium.

Neurobiol Aging. 2021 Oct;106:307.e1-307.e7. doi: 10.1016/j.neurobiolaging.2021.04.023. Epub 2021 May 2.

PMID: 34090711

Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling.

Schuermans N*, El  Chehadeh S*,Hemelsoet D*, Bogaert E, Debackere E, Hilbert P,  Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Van Haverbeke C, Chanson JB,  Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J, Program for Undiagnosed Diseases (UD-PrOZA), Poppe B, Depienne C, Dermaut B.
BioRXiv. 2021 April. doi: https://doi.org/10.1101/2021.04.15.439941 - online ahead of print

* contributed equally 

 

Ring finger protein 213 assembles into a sensor for ISGylated proteins with antimicrobial activity.
Thery F*, Martina L*, Asselman C*, Zhang Y, Vessely M, Repo H, Sedeyn K, Moschonas GD, Bredow C, Teo QW, Zhang J, Leandro K, Eggermont D, De Sutter D, Boucher K, Hochepied T, Festjens N, Callewaert N, Saelens X, Dermaut B, Knobeloch KP, Beling A, Sanyal S, Radoshevich L, Eyckerman S, Impens F.N
Nat Commun. 2021 Oct 1;12(1):5772. doi: 10.1038/s41467-021-26061-w.
PMID: 34599178
* contributed equally

Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis.

van der Zee J, Dillen L, Baradaran-Heravi Y, Gossye H, Koçoğlu C, Cuyt I, Dermaut B, Sieben A, Baets J, De Jonghe P, Vandenberghe R, De Deyn P, Cras P, Engelborghs S, Van Broeckhoven C; BELNEU Consortium.

Neurobiol Dis. 2021 Aug;156:105421. doi: 10.1016/j.nbd.2021.105421. Epub 2021 Jun 9.

PMID: 34118419 


Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.

Meylemans A, Depuydt P, De Baere E, Hertegonne K, Derom E, Dermaut B, Hemelsoet D.

Acta Neurol Belg. 2021 Feb;121(1):23-35. doi: 10.1007/s13760-020-01363-w. Epub 2020 Apr 25.

PMID: 32335870

2020

Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Perrone F, Bjerke M, Hens E, Sieben A, Timmers M, De Roeck A, Vandenberghe R, Sleegers K, Martin JJ, De Deyn PP, Engelborghs S, van der Zee J, Van Broeckhoven C, Cacace R; BELNEU Consortium.

Alzheimers Res Ther. 2020 Sep 11;12(1):108. doi: 10.1186/s13195-020-00676-5.

PMID: 32917274

2018

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.

Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26.

PMID: 30057031

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

Future perspectives of genome-scale sequencing.

Steyaert W, Callens S, Coucke P, Dermaut B, Hemelsoet D, Terryn W, Poppe B.

Acta Clin Belg. 2018 Feb;73(1):7-10. doi: 10.1080/17843286.2017.1413809.

PMID: 29384039

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.

PMID: 29146049

2017

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.
PMID: 28008748


Developmental Expression of 4-Repeat-Tau Induces Neuronal Aneuploidy in Drosophila Tauopathy Models.

Malmanche N, Dourlen P, Gistelinck M, Demiautte F, Link N, Dupont C, Vanden Broeck L, Werkmeister E, Amouyel P, Bongiovanni A, Bauderlique H, Moechars D, Royou A, Bellen HJ, Lafont F, Callaerts P, Lambert JC, Dermaut B.

Sci Rep. 2017 Jan 23;7:40764. doi: 10.1038/srep40764.

PMID: 28112163

2016

ADAM30 Downregulates APP-Linked Defects Through Cathepsin D Activation in Alzheimer's Disease.

Letronne F, Laumet G, Ayral AM, Chapuis J, Demiautte F, Laga M, Vandenberghe ME, Malmanche N, Leroux F, Eysert F, Sottejeau Y, Chami L, Flaig A, Bauer C, Dourlen P, Lesaffre M, Delay C, Huot L, Dumont J, Werkmeister E, Lafont F, Mendes T, Hansmannel F, Dermaut B, Deprez B, Hérard AS, Dhenain M, Souedet N, Pasquier F, Tulasne D, Berr C, Hauw JJ, Lemoine Y, Amouyel P, Mann D, Déprez R, Checler F, Hot D, Delzescaux T, Gevaert K, Lambert JC.

EBioMedicine. 2016 Jul;9:278-292. doi: 10.1016/j.ebiom.2016.06.002. Epub 2016 Jun 2.

PMID: 27333034

Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation.

Van den Bossche T, Sleegers K, Cuyvers E, Engelborghs S, Sieben A, De Roeck A, Van Cauwenberghe C, Vermeulen S, Van den Broeck M, Laureys A, Peeters K, Mattheijssens M, Vandenbulcke M, Vandenberghe R, Martin JJ, De Deyn PP, Cras P, Van Broeckhoven C; Belgian Neurology Consortium.

Neurology. 2016 Jun 7;86(23):2126-33. doi: 10.1212/WNL.0000000000002628. Epub 2016 Apr 1.

PMID: 2703723 


Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S.Epilepsia. 2016 Jun;57(6):994-1003. doi: 10.1111/epi.13391. Epub 2016 May 13.
PMID: 27173016

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.

Van Mossevelde S, van der Zee J, Gijselinck I, Engelborghs S, Sieben A, Van Langenhove T, De Bleecker J, Baets J, Vandenbulcke M, Van Laere K, Ceyssens S, Van den Broeck M, Peeters K, Mattheijssens M, Cras P, Vandenberghe R, De Jonghe P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C; Belgian Neurology consortium.

Brain. 2016 Feb;139(Pt 2):452-67. doi: 10.1093/brain/awv358. Epub 2015 Dec 15.

PMID: 26674655

2015

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.

Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Philtjens S, Heeman B, Engelborghs S, Vandenbulcke M, De Baets G, Bäumer V, Cuijt I, Van den Broeck M, Peeters K, Mattheijssens M, Rousseau F, Vandenberghe R, De Jonghe P, Cras P, De Deyn PP, Martin JJ, Cruts M, Van Broeckhoven C; BELNEU Consortium.

Neurology. 2015 Dec 15;85(24):2116-25. doi: 10.1212/WNL.0000000000002220. Epub 2015 Nov 18.

PMID: 26581300

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.

Janssens J, Philtjens S, Kleinberger G, Van Mossevelde S, van der Zee J, Cacace R, Engelborghs S, Sieben A, Banzhaf-Strathmann J, Dillen L, Merlin C, Cuijt I, Robberecht C, Schmid B, Santens P, Ivanoiu A, Vandenbulcke M, Vandenberghe R, Cras P, De Deyn PP, Martin JJ, Maudsley S, Haass C, Cruts M, Van Broeckhoven C; Belgian Neurology (BELNEU) consortium.

Acta Neuropathol Commun. 2015 Nov 10;3:68. doi: 10.1186/s40478-015-0246-7.

PMID: 26555887 


Tau phosphorylation regulates the interaction between BIN1's SH3 domain and Tau's proline-rich domain.

Sottejeau Y, Bretteville A, Cantrelle FX, Malmanche N, Demiaute F, Mendes T, Delay C, Alves Dos Alves H, Flaig A, Davies P, Dourlen P, Dermaut B, Laporte J, Amouyel P, Lippens G, Chapuis J, Landrieu I, Lambert JC.

Acta Neuropathol Commun. 2015 Sep 23;3:58. doi: 10.1186/s40478-015-0237-8.

PMID: 26395440 


RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.
Santens P, Van Damme T, Steyaert W, Willaert A, Sablonnière B, De Paepe A, Coucke PJ, Dermaut B.
Neurology. 2015 Apr 28;84(17):1760-6. doi: 10.1212/WNL.0000000000001521. Epub 2015 Apr 3.
PMID: 25841028
 
Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism.

Vanden Broeck L, Kleinberger G, Chapuis J, Gistelinck M, Amouyel P, Van Broeckhoven C, Lambert JC, Callaerts P, Dermaut B.

Neurobiol Aging. 2015 Feb;36(2):1121-9. doi: 10.1016/j.neurobiolaging.2014.09.001. Epub 2014 Sep 28.

PMID: 25442115 

2014

 Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Matěj R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, Mattheijssens M, Peeters K, Benussi L, Binetti G, Ghidoni R, Borroni B, Padovani A, Archetti S, Pastor P, Razquin C, Ortega-Cubero S, Hernández I, Boada M, Ruiz A, de Mendonça A, Miltenberger-Miltényi G, do Couto FS, Sorbi S, Nacmias B, Bagnoli S, Graff C, Chiang HH, Thonberg H, Perneczky R, Diehl-Schmid J, Alexopoulos P, Frisoni GB, Bonvicini C, Synofzik M, Maetzler W, vom Hagen JM, Schöls L, Haack TB, Strom TM, Prokisch H, Dols-Icardo O, Clarimón J, Lleó A, Santana I, Almeida MR, Santiago B, Heneka MT, Jessen F, Ramirez A, Sanchez-Valle R, Llado A, Gelpi E, Sarafov S, Tournev I, Jordanova A, Parobkova E, Fabrizi GM, Testi S, Salmon E, Ströbel T, Santens P, Robberecht W, De Jonghe P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Sleegers K, Van Broeckhoven C.
Acta Neuropathol. 2014 Sep;128(3):397-410. doi: 10.1007/s00401-014-1298-7. Epub 2014 Jun 5.
PMID: 24899140 

 

HDAC6 is a Bruchpilot deacetylase that facilitates neurotransmitter release.Miskiewicz K, Jose LE, Yeshaw WM, Valadas JS, Swerts J, Munck S, Feiguin F, Dermaut B, Verstreken P.Cell Rep. 2014 Jul 10;8(1):94-102. doi: 10.1016/j.celrep.2014.05.051. Epub 2014 Jun 26.
PMID: 24981865

Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia.

Cuyvers E, Bettens K, Philtjens S, Van Langenhove T, Gijselinck I, van der Zee J, Engelborghs S, Vandenbulcke M, Van Dongen J, Geerts N, Maes G, Mattheijssens M, Peeters K, Cras P, Vandenberghe R, De Deyn PP, Van Broeckhoven C, Cruts M, Sleegers K; BELNEU consortium.

Neurobiol Aging. 2014 Mar;35(3):726.e11-9. doi: 10.1016/j.neurobiolaging.2013.09.009. Epub 2013 Oct 9.

PMID: 24119542 


TDP-43-mediated neurodegeneration: towards a loss-of-function hypothesis?

Vanden Broeck L, Callaerts P, Dermaut B.

Trends Mol Med. 2014 Feb;20(2):66-71. doi: 10.1016/j.molmed.2013.11.003. Epub 2013 Dec 16.

PMID: 24355761

2013

 TDP-43 loss-of-function causes neuronal loss due to defective steroid receptor-mediated gene program switching in Drosophila.

Vanden Broeck L, Naval-Sánchez M, Adachi Y, Diaper D, Dourlen P, Chapuis J, Kleinberger G, Gistelinck M, Van Broeckhoven C, Lambert JC, Hirth F, Aerts S, Callaerts P, Dermaut B.

Cell Rep. 2013 Jan 31;3(1):160-72. doi: 10.1016/j.celrep.2012.12.014. Epub 2013 Jan 17.

PMID: 23333275

Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients.

Dillen L, Van Langenhove T, Engelborghs S, Vandenbulcke M, Sarafov S, Tournev I, Merlin C, Cras P, Vandenberghe R, De Deyn PP, Jordanova A, Cruts M, Van Broeckhoven C, van der Zee J; BELNEU consortium.

Neurobiol Aging. 2013 Jun;34(6):1711.e1-5. doi: 10.1016/j.neurobiolaging.2012.12.007. Epub 2013 Jan 9.

PMID: 23312802 

 
Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes.

Diaper DC, Adachi Y, Sutcliffe B, Humphrey DM, Elliott CJ, Stepto A, Ludlow ZN, Vanden Broeck L, Callaerts P, Dermaut B, Al-Chalabi A, Shaw CE, Robinson IM, Hirth F.

Hum Mol Genet. 2013 Apr 15;22(8):1539-57. doi: 10.1093/hmg/ddt005. Epub 2013 Jan 10.

PMID: 23307927

TDP-43 loss-of-function causes neuronal loss due to defective steroid receptor-mediated gene program switching in Drosophila.

Vanden Broeck L, Naval-Sánchez M, Adachi Y, Diaper D, Dourlen P, Chapuis J, Kleinberger G, Gistelinck M, Van Broeckhoven C, Lambert JC, Hirth F, Aerts S, Callaerts P, Dermaut B.

Cell Rep. 2013 Jan 31;3(1):160-72. doi: 10.1016/j.celrep.2012.12.014. Epub 2013 Jan 17.

PMID: 23333275 

2012

Drosophila models of tauopathies: what have we learned?
Gistelinck M, Lambert JC, Callaerts P, Dermaut B, Dourlen P.

Int J Alzheimers Dis. 2012;2012:970980. doi: 10.1155/2012/970980. Epub 2012 Jun 4. PMID: 22701808

2009

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS.

Gijselinck I, Sleegers K, Engelborghs S, Robberecht W, Martin JJ, Vandenberghe R, Sciot R, Dermaut B, Goossens D, van der Zee J, De Pooter T, Del-Favero J, Santens P, De Jonghe P, De Deyn PP, Van Broeckhoven C, Cruts M.

Neurobiol Aging. 2009 Aug;30(8):1329-31. doi: 10.1016/j.neurobiolaging.2007.11.002. Epub 2008 Jan 10.

PMID: 18068872 

 
Vagus nerve stimulation for refractory status epilepticus.

De Herdt V, Waterschoot L, Vonck K, Dermaut B, Verhelst H, Van Coster R, De Jaeger A, Van Roost D, Boon P.

Eur J Paediatr Neurol. 2009 May;13(3):286-9. doi: 10.1016/j.ejpn.2008.05.004. Epub 2008 Jun 27.

PMID: 18585939

2008

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.

van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, De Pooter T, Peeters K, Santens P, De Deyn PP, Fisher EM, Collinge J, Isaacs AM, Van Broeckhoven C.

Hum Mol Genet. 2008 Jan 15;17(2):313-22. doi: 10.1093/hmg/ddm309. Epub 2007 Oct 22.
PMID: 17956895

2007

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

Brouwers N, Nuytemans K, van der Zee J, Gijselinck I, Engelborghs S, Theuns J, Kumar-Singh S, Pickut BA, Pals P, Dermaut B, Bogaerts V, De Pooter T, Serneels S, Van den Broeck M, Cuijt I, Mattheijssens M, Peeters K, Sciot R, Martin JJ, Cras P, Santens P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K.

Arch Neurol. 2007 Oct;64(10):1436-46. doi: 10.1001/archneur.64.10.1436.

PMID: 17923627

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

van der Zee J, Le Ber I, Maurer-Stroh S, Engelborghs S, Gijselinck I, Camuzat A, Brouwers N, Vandenberghe R, Sleegers K, Hannequin D, Dermaut B, Schymkowitz J, Campion D, Santens P, Martin JJ, Lacomblez L, De Pooter T, Peeters K, Mattheijssens M, Vercelletto M, Van den Broeck M, Cruts M, De Deyn PP, Rousseau F, Brice A, Van Broeckhoven C.

Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9484.

PMID: 17345602

2006

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, Mattheijssens M, Van den Broeck M, Cuijt I, Vennekens K, De Deyn PP, Kumar-Singh S, Van Broeckhoven C.

Nature. 2006 Aug 24;442(7105):920-4. doi: 10.1038/nature05017. Epub 2006 Jul 16.

PMID: 16862115 


Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.

Kumar-Singh S, Theuns J, Van Broeck B, Pirici D, Vennekens K, Corsmit E, Cruts M, Dermaut B, Wang R, Van Broeckhoven C.

Hum Mutat. 2006 Jul;27(7):686-95. doi: 10.1002/humu.20336.

PMID: 16752394

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

van der Zee J, Rademakers R, Engelborghs S, Gijselinck I, Bogaerts V, Vandenberghe R, Santens P, Caekebeke J, De Pooter T, Peeters K, Lübke U, Van den Broeck M, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C, Dermaut B.

Brain. 2006 Apr;129(Pt 4):841-52. doi: 10.1093/brain/awl029. Epub 2006 Feb 22.

PMID: 16495329 

 

Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family.

Pirici D, Vandenberghe R, Rademakers R, Dermaut B, Cruts M, Vennekens K, Cuijt I, Lübke U, Ceuterick C, Martin JJ, Van Broeckhoven C, Kumar-Singh S.
J Neuropathol Exp Neurol. 2006 Mar;65(3):289-301.  doi:10. 1097/01. jnen. 0000205147. 39210.c7.

PMID: 16651890

 

Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia.

Engelborghs S, Dermaut B, Mariën P, Symons A, Vloeberghs E, Maertens K, Somers N, Goeman J, Rademakers R, Van den Broeck M, Pickut B, Cruts M, Van Broeckhoven C, De Deyn PP.

Neurobiol Aging. 2006 Feb;27(2):285-92. doi: 10.1016/j.neurobiolaging.2005.02.005.

PMID: 16399213

The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years.

Brouwers N, Sleegers K, Engelborghs S, Bogaerts V, van Duijn CM, De Deyn PP, Van Broeckhoven C, Dermaut B.

Neurosci Lett. 2006 Jan 9;392(1-2):72-4. doi: 10.1016/j.neulet.2005.08.064. Epub 2005 Oct 6.

PMID: 16214290 

2005

Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum.

Dermaut B, Kumar-Singh S, Rademakers R, Theuns J, Cruts M, Van Broeckhoven C.

Trends Genet. 2005 Dec;21(12):664-72. doi: 10.1016/j.tig.2005.09.005. Epub 2005 Oct 10.

PMID: 16221505

Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample.

Rademakers R, Cruts M, Sleegers K, Dermaut B, Theuns J, Aulchenko Y, Weckx S, De Pooter T, Van den Broeck M, Corsmit E, De Rijk P, Del-Favero J, van Swieten J, van Duijn CM, Van Broeckhoven C.

Am J Hum Genet. 2005 Oct;77(4):643-52. doi: 10.1086/491749. Epub 2005 Aug 30.

PMID: 16175510 


Aberrant lysosomal carbohydrate storage accompanies endocytic defects and neurodegeneration in Drosophila benchwarmer.

Dermaut B, Norga KK, Kania A, Verstreken P, Pan H, Zhou Y, Callaerts P, Bellen HJ.

J Cell Biol. 2005 Jul 4;170(1):127-39. doi: 10.1083/jcb.200412001.

PMID: 15998804

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region.

Cruts M, Rademakers R, Gijselinck I, van der Zee J, Dermaut B, de Pooter T, de Rijk P, Del-Favero J, van Broeckhoven C.

Hum Mol Genet. 2005 Jul 1;14(13):1753-62. doi: 10.1093/hmg/ddi182. Epub 2005 May 11.

PMID: 15888485

2004

Genetic testing has no place as a routine diagnostic test in sporadic and familial cases of Alzheimer's disease.
van der Cammen TJ, Croes EA, Dermaut B, de Jager MC, Cruts M, Van Broeckhoven C, van Duijn CM.
J Am Geriatr Soc. 2004 Dec;52(12):2110-3. doi: 10.1111/j.1532-5415.2004.52573.x.
PMID: 15571552


A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.

Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, Pickut BA, Peeters K, van den Broeck M, Vennekens K, Claes S, Cruts M, Cras P, Martin JJ, Van Broeckhoven C, De Deyn PP.

Ann Neurol. 2004 May;55(5):617-26. doi: 10.1002/ana.20083.

PMID: 15122701 

 

Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.
Croes EA, Alizadeh BZ, Bertoli-Avella AM, Rademaker T, Vergeer-Drop J, Dermaut B, Houwing-Duistermaat JJ, Wientjens DP, Hofman A, Van Broeckhoven C, van Duijn CM.
Eur J Hum Genet. 2004 May;12(5):389-94. doi: 10.1038/sj.ejhg.5201161.
PMID: 14970845

2003

Novel APP mutation V715A associated with presenile Alzheimer's disease in a German family.

Cruts M, Dermaut B, Rademakers R, Van den Broeck M, Stögbauer F, Van Broeckhoven C.

J Neurol. 2003 Nov;250(11):1374-5. doi: 10.1007/s00415-003-0182-5.

PMID: 14648157

Early cognitive decline is associated with prion protein codon 129 polymorphism.

Croes EA, Dermaut B, Houwing-Duistermaat JJ, Van den Broeck M, Cruts M, Breteler MM, Hofman A, van Broeckhoven C, van Duijn CM.

Ann Neurol. 2003 Aug;54(2):275-6. doi: 10.1002/ana.10658.

PMID: 12891686

 
Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.

Van Goethem G, Löfgren A, Dermaut B, Ceuterick C, Martin JJ, Van Broeckhoven C.

Hum Mutat. 2003 Aug;22(2):175-6. doi: 10.1002/humu.10246.

PMID: 12872260 


Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J.

Eur J Hum Genet. 2003 Jul;11(7):547-9. doi: 10.1038/sj.ejhg.5201002.

PMID: 12825077 


PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease.

Dermaut B, Croes EA, Rademakers R, Van den Broeck M, Cruts M, Hofman A, van Duijn CM, Van Broeckhoven C.

Ann Neurol. 2003 Mar;53(3):409-12. doi: 10.1002/ana.10507.

PMID: 12601712

The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample.

Dermaut B, Theuns J, Sleegers K, Hasegawa H, Van den Broeck M, Vennekens K, Corsmit E, St George-Hyslop P, Cruts M, van Duijn CM, Van Broeckhoven C.

Am J Hum Genet. 2002 Jun;70(6):1568-74. doi: 10.1086/340732. Epub 2002 Apr 24.

PMID: 11992262 

2002

The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample.

Dermaut B, Theuns J, Sleegers K, Hasegawa H, Van den Broeck M, Vennekens K, Corsmit E, St George-Hyslop P, Cruts M, van Duijn CM, Van Broeckhoven C.

Am J Hum Genet. 2002 Jun;70(6):1568-74. doi: 10.1086/340732. Epub 2002 Apr 24.

PMID: 11992262