Research Explorer

Your browser does not support JavaScript or JavaScript is not enabled. Without JavaScript some functions of this webapplication may be disabled or cause error messages. To enable JavaScript, please consult the manual of your browser or contact your system administrator.

Researcher

Bart Dermaut

Publications & Research Data

Awards & Distinctions

149 Results

2026

Increased plasma fibronectin mirrors intimal phenotypic switching of vascular smooth muscle cells in moyamoya arteriopathy

Caroline AsselmanJozefien MeersschautPatrick WillemsJulien MortierFrank VernaillenElisabeth DhondtAnne SiebenSasha LibbrechtMaria Fernandez FernandezKris Gevaert et al.

A1 Journal Article in SCIENTIFIC REPORTS

Multi-omics profiling reveals molecular pathways involved in RNF216-mediated neurodegeneration

Axelle VersavelLauren VersluysLotte KeymeulenElke BogaertBart DermautFrancis ImpensMarthe De BoeckAnne SiebenJo Van DorpePatrick Santens et al.

Multi-omics profiling reveals molecular pathways involved in RNF216-mediated neurodegeneration

Axelle VersavelLauren VersluysLotte KeymeulenElke BogaertMarthe De BoeckJo Van DorpeAnne SiebenSven EyckermanBart DermautFrancis Impens

2025

Characterization of RNF213 in antimicrobial defense and Moyamoya disease progression

Caroline AsselmanFrancis ImpensBart Dermaut

Getting close to RNF216 : proximity labeling reveals links between nuclear condensates, splicing and neurodegeneration

Lauren VersluysAxelle VersavelLotte KeymeulenAnne SiebenNika SchuermansElisabeth Mondragon RezolaPatrick SantensJo Van DorpeFrancis ImpensSven Eyckerman et al.

Identifying genetic causes of unexplained rare neurological disorders

Nika SchuermansBart DermautBruce PoppePatrick Santens

Myopathic aggregation-prone variants in the TDP-43 prion-like domain : genetics paving the way

Pedro Ervilha PereiraJan De BleeckerElke BogaertBart Dermaut

A1 Journal Article in BRAIN

Shifting the tail of TDP-43 : characterising a novel myopathy-causing TDP-43 variant

Pedro Ervilha PereiraBart DermautElke Bogaert

2024

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Maria del Rocio Pérez BacaEva JacobsLies VantommePontus LeBlancElke BogaertAnnelies DheedeneLaurenz De CockSadegheh HaghshenasAidin ForoutanMichael A Levy et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

Nika SchuermansSalima El ChehadehDimitri HemelsoetJeremie GautheronMarie-Christine VantyghemSonia NouiouaMeriem TazirCorinne VigourouxMartine AuclairElke Bogaert et al.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder

Maria del Rocio Pérez BacaMaria PalomaresMichiel VanhooydonckEva D'haeneEva Z. JacobsLies VantommeFernando Santos-SimarroRoser Lleuger-PujolSixto García-MiñaúrItsaso Losantos-García et al.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder

Maria del Rocio Pérez BacaMaria PalomaresMichiel VanhooydonckEva D'haeneEva JacobsLies VantommeFernando Santos-SimarroRoser Lleuger-PujolSixto García-MiñáurItsaso Losantos-García et al.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

Maria del Rocio Pérez BacaMaria Palomares BraloMichiel VanhooydonckLisa HamerlinckEva D'haeneSebastian LeimbacherEva JacobsLaurenz De CockErika D'haenensZoë Malfait et al.

Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)

Astrid Van den broeckeAlexander DecruyenaereNika SchuermansHannah VerdinJody GhijselsAnne SiebenBart DermautDimitri Hemelsoet

A1 Journal Article in JOURNAL OF NEUROLOGY

2023

A novel neurodevelopmental syndrome caused by lossof-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

Maria del Rocio Perez BacaEva Z. JacobsLies VantommePontus LeBlancElke BogaertAnnelies DheedeneLaurenz De CockBart DermautAidin ForoutanJennifer Kerkhof et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-PichonLeslie MatalongaElke de BoerAdam JacksonElisa BenettiSiddharth BankaAnge-Line BruelAndrea CiolfiJill Clayton-SmithBruno Dallapiccola et al.

A1 Journal Article in GENETICS IN MEDICINE

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

Pedro Ervilha PereiraNika SchuermansAntoon MeylemansPontus LeBlancLauren VersluysKE CopleyJD RubienC AltheimerMyra PeetermansElke Debackere et al.

A1 Journal Article in ACTA NEUROPATHOLOGICA

Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders

Nika SchuermansHannah VerdinJody GhijselsMadeleine HellemansElke DebackereElke BogaertSofie SymoensLeslie NaesensElien LecomteDavid Crosiers et al.

A1 Journal Article in NEUROLOGY-GENETICS

From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection

Steven CallensBart DermautFilomeen HaerynckDimitri HemelsoetLeslie NaessensBruce PoppeSanne SteyaertWim TerrynArnaud VanlanderPATRICK VERLOO et al.

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

Nika SchuermansSalima El ChehadehDimitri HemelsoetJérémie GautheronMarie-Christine VantyghemSonia NouiouaMeriem TazirCorinne VigourouxMartine AuclairElke Bogaert et al.

A1 Journal Article in NATURE GENETICS

Pathogenicity of mutation in MT-ND1 (m. 3796A>G) in a family with 'Leber Hereditary Optic Neuropathy Plus Phenotype'

Heleen ParmentierArnaud VanlanderS. SenecaHedwig StepmanJulie De ZaeytijdBart DermautDimitri Hemelsoet

Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy

Bart DermautNika Schuermans

Editorial material

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Elke BogaertAurore GardeThierry GautierKathleen RooneyYannis DuffourdPontus LeBlancEmma Van ReemptsFrederic Tran Mau-ThemIngrid M. WentzensenKit Sing Au et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Tau promotes oxidative stress-associated cycling neurons in S phase as a pro-survival mechanism : possible implication for Alzheimer's disease

M DenechaudSarah GeursT ComptdaerS BégardA Garcia-NúñezLA PechereauT BouilletY VermeirenPP De DeynR Perbet et al.

A1 Journal Article in PROGRESS IN NEUROBIOLOGY

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu YaldizErdi KucukJuliet HampsteadTom HofsteRolph PfundtJordi Corominas GalbanyTuula RinneHelger G. YntemaAlexander HoischenMarcel Nelen et al.

A1 Journal Article in HUMAN GENOMICS

2022

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

Maria del Rocio Pérez BacaEva JacobsLies VantommePontus LeBlancElke BogaertAnnelies DheedeneLaurenz De CockBart DermautAidin ForoutanJennifer Kerkhof et al.

A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration

Pedro Ervilha PereiraNika SchuermansAntoon MeylemansPontus LeBlancL VersluysElke DebackereOlivier VanakkerSara JanssensJonathan BaetsK Verhoeven et al.

Expanding the TDP-43 proteinopathy pathway from neurons to muscle : physiological and pathophysiological functions

Lauren VersluysPedro Ervilha PereiraNika SchuermansBoel De PaepeJan De BleeckerElke BogaertBart Dermaut

A1 Journal Article in FRONTIERS IN NEUROSCIENCE

Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Nika SchuermansSalima El ChehadehDimitri HemelsoetElke BogaertElke DebackerePascale HilbertNike Van DoninckMarie-Caroline TaquetToon RosseelGriet De Clercq et al.

Marked hypotonia : an additional feature of ANO3-related movement disorder

Patrick SantensArnout BruggemanNika SchuermansHannah VerdinBart Dermaut

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Moyamoya disease emerging as an immune-related angiopathy

Caroline AsselmanDimitri HemelsoetDenzel EggermontBart DermautFrancis Impens

A1 Journal Article in TRENDS IN MOLECULAR MEDICINE

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika SchuermansDimitri HemelsoetWim TerrynSanne SteyaertRudy Van CosterPaul CouckeWouter SteyaertBert CallewaertElke BogaertPATRICK VERLOO et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

The Alzheimer susceptibility gene BIN1 induces isoform-dependent neurotoxicity through early endosome defects

Erwan LambertOrthis SahaBruna Soares LandeiraAna Raquel Melo de FariasXavier HermantArnaud CarrierAlexandre PelletierJohanna GadautLindsay DavoineCloe Dupont et al.

A1 Journal Article in ACTA NEUROPATHOLOGICA COMMUNICATIONS

2021

Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation

Antoon MeylemansPieter DepuydtElfride De BaereKatrien HertegonneEric DeromBart DermautDimitri Hemelsoet

A1 Journal Article in ACTA NEUROLOGICA BELGICA

Proteome profiling of RNF213 depleted cells reveals nitric oxide regulator DDAH1 antilisterial activity

Lia MartinaCaroline AsselmanFabien Henri TheryKatie BoucherLouis DelhayeTeresa MaiaBart DermautSven EyckermanFrancis Impens

A1 Journal Article in FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY

Ring finger protein 213 assembles into a sensor for ISGylated proteins with antimicrobial activity

Fabien Henri TheryLia MartinaCaroline AsselmanHeidi RepoY ZhangKoen SedeynGeorgios MoschonasC BredowQW TeoJ Zhang et al.

A1 Journal Article in NATURE COMMUNICATIONS

2020

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

Federica PerroneMaria BjerkeElisabeth HensAnne SiebenMaarten TimmersArne De RoeckRik VandenbergheKristel SleegersJean-Jacques MartinPeter P. De Deyn et al.

A1 Journal Article in ALZHEIMERS RESEARCH & THERAPY

2019

Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults

Vincent Van IseghemMathieu SprengersJulie De ZaeytijdSindic CJMB WillekensBart DermautDimitri HemelsoetGuy Laureys

Editorial material

2018

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

Jan VerheijenJulie van der ZeeIlse GijselinckTobi Van den BosscheLubina DillenBavo HeemanEstrella Gómez-TortosaAlbert LladóRaquel Sanchez-ValleCaroline Graff et al.

A1 Journal Article in NEUROBIOLOGY OF AGING

Future perspectives of genome-scale sequencing

Wouter SteyaertSteven CallensPaul CouckeBart DermautDimitri HemelsoetWim TerrynBruce Poppe

A1 Journal Article in ACTA CLINICA BELGICA

IRF2BPL is associated with neurological phenotypes

Paul C MarcoglieseVandana ShashiRebecca C SpillmannNicholas StongJill A RosenfeldMary Kay KoenigJulian A Martínez-AgostoMatthew HerzogAgnes H ChenPatricia I Dickson et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

Elena S GusarevaJean-Claude TwizereKristel SleegersPierre DourlenJose F AbisambraShelby MeierRyan CloydBlaine WeissBart DermautKyrylo Bessonov et al.

A1 Journal Article in NEUROBIOLOGY OF AGING

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

Jelle van den AmeeleIvana JedlickovaAnna PristoupilovaAnne SiebenSara Van MosseveldeChantal Ceuterick-de GrooteHelena HůlkováRadoslav MatejAlfred MeursChristine Van Broeckhoven et al.

A1 Journal Article in NEUROLOGY

2017

Developmental expression of 4-repeat-Tau induces neuronal aneuploidy in Drosophila tauopathy models

Nicolas MalmanchePierre DourlenMarc GistelinckFlorie DemiautteNichole LinkCloé DupontLies Vanden BroeckElisabeth WerkmeisterPhilippe AmouyelAntonino Bongiovanni et al.

A1 Journal Article in SCIENTIFIC REPORTS

Functional screening of Alzheimer risk loci identifies PTK2B as an in vivo modulator and early marker of Tau pathology

P DourlenFJ Fernandez-GomezC DupontB Grenier-BoleyC BellenguezH ObriotR CaillierezY SottejeauJ ChapuisA Bretteville et al.

A1 Journal Article in MOLECULAR PSYCHIATRY

TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis

Julie van der ZeeIlse GijselinckSara Van MosseveldeFederica PerroneLubina DillenBavo HeemanVeerle BäumerSebastiaan EngelborghsJan De BleeckerJonathan Baets et al.

A1 Journal Article in HUMAN MUTATION

2016

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

Jan VerheijenTobi Van den BosscheJulie van der ZeeSebastiaan EngelborghsRaquel Sanchez-ValleAlbert LladoCaroline GraffHakan ThonbergPau PastorSara Ortega-Cubero et al.

A1 Journal Article in ACTA NEUROPATHOLOGICA

ADAM30 downregulates APP-linked defects through cathepsin D activation in Alzheimer's disease

Florent LetronneGeoffroy LaumetAnne-Marie AyralJulien ChapuisFlorie DemiautteMathias LagaMichel E VandenbergheNicolas MalmancheFlorence LerouxFanny Eysert et al.

A1 Journal Article in EBIOMEDICINE

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

Sara Van MosseveldeJulie van der ZeeIlse GijselinckSebastiaan EngelborghsAnne SiebenTim Van LangenhoveJan De BleeckerJonathan BaetsMathieu VandenbulckeKoen Van Laere et al.

A1 Journal Article in BRAIN

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

Sarah WeckhuysenElise MarsanVirginie LambrecqCécile MarchalMélanie Morin-BrureauIsabelle An-GourfinkelMichel BaulacMartine FohlenChristine Kallay ZetchiMargitta Seeck et al.

A1 Journal Article in EPILEPSIA

Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

Tobi Van den BosscheKristel SleegersElise CuyversSebastiaan EngelborghsAnne SiebenArne De RoeckCaroline Van CauwenbergheSteven VermeulenMarleen Van den BroeckAnnelies Laureys et al.

A1 Journal Article in NEUROLOGY

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

I GijselinckS Van MosseveldeJ van der ZeeAnne SiebenS EngelborghsJan De BleeckerA IvanoiuO DeryckD EdbauerM Zhang et al.

A1 Journal Article in MOLECULAR PSYCHIATRY

2015

A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42

Kristel SleegersKarolien BettensArne De RoeckCaroline Van CauwenbergheElise CuyversJan VerheijenHanne StruyfsJasper Van DongenSteven VermeulenSebastiaan Engelborghs et al.

A1 Journal Article in ALZHEIMERS & DEMENTIA

Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism.

Lies Vanden BroeckGernot KleinbergerJulien ChapuisMarc GistelinckPhilippe AmouyelChristine Van BroeckhovenJean-Charles LambertPatrick CallaertsBart Dermaut

A1 Journal Article in NEUROBIOLOGY OF AGING

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

Jonathan JanssensStephanie PhiltjensGernot KleinbergerSara Van MosseveldeJulie van der ZeeRita CacaceSebastiaan EngelborghsAnne SiebenJulia Banzhaf-StrathmannLubina Dillen et al.

A1 Journal Article in ACTA NEUROPATHOLOGICA COMMUNICATIONS

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

Ilse GijselinckSara Van MosseveldeJulie van der ZeeAnne SiebenStephanie PhiltjensBavo HeemanSebastiaan EngelborghsMathieu VandenbulckeGreet De BaetsVeerle Baumer et al.

A1 Journal Article in NEUROLOGY

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder

Patrick SantensTim Van DammeWouter SteyaertAndy WillaertBernard SablonnièreAnne De PaepePaul CouckeBart Dermaut

A1 Journal Article in NEUROLOGY

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

Yoann SottejeauAlexis BrettevilleFrançois-Xavier CantrelleNicolas MalmancheFlorie DemiauteTiago MendesCharlotte DelayHarmony Alves Dos AlvesAmandine FlaigPeter Davies et al.

A1 Journal Article in ACTA NEUROPATHOLOGICA COMMUNICATIONS

2014

Bart DermautSandra JanssensAriane Van TongerlooAnne De Paepe

Bookchapter in Dementie op jonge leeftijd

HDAC6 is a bruchpilot deacetylase that facilitates neurotransmitter release

Katarzyna MiskiewiczLiya E JoseWondwossen M YeshawJorge S ValadasJef SwertsSebastian MunckFabian FeiguinBart DermautPatrik Verstreken

A1 Journal Article in CELL REPORTS

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

Elise CuyversKarolien BettensStéphanie PhiltjensTim Van LangenhoveIlse GijselinckJulie van der ZeeSebastiaan EngelborghsMathieu VandenbulckeJasper Van DongenNathalie Geerts et al.

A1 Journal Article in NEUROBIOLOGY OF AGING

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Julie van der ZeeTim Van LangenhoveGabor G KovacsLubina DillenWilliam DeschampsSebastiaan EngelborghsRadoslav MatějMathieu VandenbulckeAnne SiebenBart Dermaut et al.

A1 Journal Article in ACTA NEUROPATHOLOGICA

2013

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

Lubina DillenTim Van LangenhoveSebastiaan EngelborghsMathieu VandenbulckeStayko SarafovIvailo TournevCeline MerlinPatrick CrasRik VandenberghePeter P De Deyn et al.

A1 Journal Article in NEUROBIOLOGY OF AGING

Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology

J ChapuisF HansmannelM GistelinckA MounierC Van CauwenbergheKV KolenF GellerY SottejeauD HaroldP Dourlen et al.

A1 Journal Article in MOLECULAR PSYCHIATRY

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

Danielle C DiaperYoshitsugu AdachiBen SutcliffeDickon M HumphreyChristopher JH ElliottAlan SteptoZoe N LudlowLies Vanden BroeckPatrick CallaertsBart Dermaut et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

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

Lies Vanden BroeckMarina Naval-SánchezYoshitsugu AdachiDanielle DiaperPierre DourlenJulien ChapuisGernot KleinbergerMarc GistelinckChristine Van BroeckhovenJean-Charles Lambert et al.

A1 Journal Article in CELL REPORTS

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

Lies Vanden BroeckPatrick CallaertsBart Dermaut

A1 Journal Article in TRENDS IN MOLECULAR MEDICINE

2012

Both loss and gain of TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration in Drosophila

DC DiaperY AdachiB SutcliffeDM HumphreyC ElliottT FieldingM BurkiZN LudlowL Vanden BroeckP Callaerts et al.

Drosophila models of tauopathies : what have we learned?

Marc GistelinckJean-Charles LambertPatrick CallaertsBart DermautPierre Dourlen

A2 Journal Article in INTERNATIONAL JOURNAL OF ALZHEIMER'S DISEASE

TDP-43 neurotoxicity by failed steroid receptor-dependent transcriptional program switching

L Vanden BroeckNaval M SanchezY AdachiD DiaperP DourlenM GistelinckF HirthS AertsP CallaertsBart Dermaut

The nuclear receptor Hr46 protects against tau toxicity by activation of S6K

M GistelinckL Vanden BroeckP CallaertsBart Dermaut

2010

Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T > C

Bart DermautS SenecaL DomK SmetsL CeulemansJoél SmetBoel De PaepeS TousseynS WeckhuysenM Gewillig et al.

A1 Journal Article in JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The characterization of drosophila vesicular excitatory amino acid transporter

Takaaki MiyajiBram LaridonBart DermautHaruka OuchiPatrick CallaertsYoshinori MoriyamaKoen Norga

2009

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

Ilse GijselinckKristel SleegersSebastiaan EngelborghsWim RobberechtJean-Jacques MartinRik VandenbergheRaf SciotBart DermautDirk GoossensJulie van der Zee et al.

A1 Journal Article in NEUROBIOLOGY OF AGING

Vagus nerve stimulation for refractory status epilepticus

Veerle De HerdtLiesbeth WaterschootKristl VonckBart DermautHeleen VerhelstRudy Van CosterAnnick De JaegerDirk Van RoostPaul Boon

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

2008

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

Julie van der ZeeHazel UrwinSebastiaan EngelborghsMarc BruylandRik VandenbergheBart DermautTim De PooterKarin PeetersPatrick SantensPeter P De Deyn et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

2007

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

Nathalie BrouwersKaren NuytemansJulie van der ZeeIlse GijselinckSebastiaan EngelborghsJessie TheunsSamir Kumar-SinghBarbara A PickutPhilippe PalsBart Dermaut et al.

A1 Journal Article in ARCHIVES OF NEUROLOGY

Follow-up of a patient treated with vagus nerve stimulation for refractory status epilepticus

Kristl VonckVeerle De HerdtHelene VerhelstBart DermautIsabelle DewaeleLiesbeth WaterschootEvelien CarretteANNIK DE JAEGERRudy Van CosterDirk Van Roost et al.

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

Julie van der ZeeIsabelle Le BerSebastian Maurer-StrohSebastiaan EngelborghsIlse GijselinckAgnès CamuzatNathalie BrouwersRik VandenbergheKristel SleegersDidier Hannequin et al.

A1 Journal Article in HUMAN MUTATION

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

Ilse GijselinckKristel SleegersSebastiaan EngelborghsWim RobberechtJean-Jacques MartinRik VandenbergheRaf SciotBart DermautDirk GoossensJulie van der Zee et al.

2006

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

J VAN DER ZEER RADEMAKERSS ENGELBORGHSI GIJSELINCKV BOGAERTSR VANDENBERGHEPatrick SantensJ CAEKEBEKET DE POOTERK PEETERS et al.

A1 Journal Article in BRAIN

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

Daniel PiriciRik VandenbergheRosa RademakersBart DermautMarc CrutsKrist'l VennekensIvy CuijtUrsula LubkeChantal CeuterickJean-Jacques Martin et al.

A1 Journal Article in JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Dose dependent effect of APOE ε4 on behavioral symptoms in frontal lobe dementia

Sebastiaan EngelborghsBart DermautPeter MariënAnoek SymonsEllen VloeberghsKaren MaertensNore SomersJohan GoemanRosa RademakersMarleen Van den Broeck et al.

A1 Journal Article in NEUROBIOLOGY OF AGING

Mean age-of-onset of familial Alzheimer disease caused by presenilin mutations correlates with both increased Aβ42 and decreased Aβ40

Samir Kumar-SinghJessie TheunsBianca Van BroeckDaniel PiriciKrist'l VennekensEllen CorsmitMarc CrutsBart DermautRong WangChristine Van Broeckhoven

A1 Journal Article in HUMAN MUTATION

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

M CRUTSI GIJSELINCKJ VAN DER ZEES ENGELBORGHSH WILSD PIRICIR RADEMAKERSR VANDENBERGHEBart DermautJJ MARTIN et al.

A1 Journal Article in NATURE

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

Nathalie BrouwersKristel SleegersSebastiaan EngelborghsVeerle BogaertsCornelia M van DuijnPeter Paul De DeynChristine Van BroeckhovenBart Dermaut

A1 Journal Article in NEUROSCIENCE LETTERS

2005

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

Bart DermautKoenraad K NorgaArtur KaniaPatrik VerstrekenHongling PanYi ZhouPatrick CallaertsHugo J Bellen

A1 Journal Article in JOURNAL OF CELL BIOLOGY

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

Marc CrutsRosa RademakersIlse GijselinckJulie van der ZeeBart DermautTim de PooterPeter de RijkJurgen Del-FaveroChristine van Broeckhoven

A1 Journal Article in HUMAN MOLECULAR GENETICS

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

Rosa RademakersMarc CrutsKristel SleegersBart DermautJessie TheunsYurii AulchenkoStefan WeckxTim De PooterMarleen Van den BroeckEllen Corsmit et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum

Bart DermautSamir Kumar-SinghRosa RademakersJessie TheunsMarc CrutsChristine Van Broeckhoven

A1 Journal Article in TRENDS IN GENETICS

2004

A novel presenilin 1 mutation (gly183val) is associated with Pick's disease in the absence of β-amyloid plaques

Bart DermautSamir Kumar-SinghSebastiaan EngelborghsJessie TheunsRosa RademakersKarin PeetersStephan ClaesMarc CrutsJean-Jacques MartinPeter De Deyn et al.

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

Bart DermautSamir Kumar-SinghSebastian EngelborghsJessie TheunsRosa RademakersJos SaerensBarbara A PickutKarin PeetersMarleen van den BroeckKrist'l Vennekens et al.

A1 Journal Article in ANNALS OF NEUROLOGY

Dose dependent effect of APOE ε4 on behavioral symptoms in frontal lobe dementia patients

Sebastiaan EngelborghsBart DermautPeter MariënAnoek SymonsEllen VloeberghsKaren MaertensNore SomersJos GoemanRoos RademakersMarleen Van Den Broeck et al.

Genetic testing has no place as a routine diagnostic test in sporadic and familial cases of Alzheimer's disease

Tischa JM van der CammenEsther A CroesBart DermautMarie-Claire de JagerMarc CrutsChristine Van BroeckhovenCornelia M van Duijn

A1 Journal Article in JOURNAL OF THE AMERICAN GERIATRICS SOCIETY

Mutation analysis of candidate genes for chromosome 17-linked tau-negative FTD

R RademakersBart DermautM Van den BroeckT De PooterCM van DuijnC Van BroeckhovenM Cruts

Neuropathological and biochemical characterization of a familial FTD patient carrying PS1 GLY183VAL

S Kumar-SinghJ TheunsN SergeantBart DermautK VennekensA GhestemA DelacourtePP De DeynC Van Broeckhoven

Octapeptide repeat insertions in the prion protein gene and early onset dementia

EA CroesJ TheunsJJ Houwing-DuistermaatBart DermautK SleegersG RoksM Van den BroeckB van HartenJC van SwietenM Cruts et al.

A1 Journal Article in JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease

Esther A CroesBehrooz Z AlizadehAida M Bertoli-AvellaTessa RademakerJeannette Vergeer-DropBart DermautJeanine J Houwing-DuistermaatDorothee PWM WientjensAlbert HofmanChristine Van Broeckhoven et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population

S HelisalmiBart DermautM HiltunenA MannermaaM Van den BroeckM LehtovirtaAM KoivistoS IivonenM CrutsH Soininen et al.

A1 Journal Article in NEUROLOGY

The molecular genetics of early-onset Alzheimer's disease

C Van BroeckhovenR RademakersBart DermautS Kumar-SinghC van DuijnM Cruts

2003

A straightforward approach to evaluate false positive associations in studies of gene interaction

CM Van DuijnJJ HottengaG RoksBart DermautC Van Broeckhoven

Absence of association between codon 129/219 polymorphisms of the prion protein gene and Alzheimer's disease in Japan: reply

Bart DermautEsther A CroesCornelia M van DuijnChristine Van Broeckhoven

A1 Journal Article in ANNALS OF NEUROLOGY

Digenic progressive external ophthalmoplegiain a sporadic patient: recessive mutationsin POLG and C10orf2/Twinkle

Gert Van GoethemAnn LöfgrenBart DermautChantal CeuterickJean-Jacques MartinChristine Van Broeckhoven

A1 Journal Article in HUMAN MUTATION

Early cognitive decline is associated with prion protein codon 129 polymorphism

Esther A CroesBart DermautJeanine J Houwing-DuistermaatMarleen Van den BroeckMarc CrutsMonique MB BretelerAlbert HofmanChristine van BroeckhovenCornelia M van Duijn

A1 Journal Article in ANNALS OF NEUROLOGY

Effect of APOE genotype on behavioral and psychological signs and symptoms of dementia

S EngelborghsBart DermautR D'HoogeA SymonsF ClementP MarienJ GoemanBA PickutM Van den BroeckS Serneels et al.

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

Marc CrutsBart DermautRosa RademakersMarleen Van den BroeckFlorian StögbauerChristine Van Broeckhoven

A1 Journal Article in JOURNAL OF NEUROLOGY

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

Gert Van GoethemMarianne SchwartzAnn LöfgrenBart DermautChristine Van BroeckhovenJohn Vissing

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

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

Bart DermautEsther A CroesRosa RademakersMarleen Van den BroeckMarc CrutsAlbert HofmanCornelia M van DuijnChristine Van Broeckhoven

A1 Journal Article in ANNALS OF NEUROLOGY

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

S EngelborghsBart DermautJ GoemanJ SaerensP MarienBA PickutM Van den BroeckS SerneelsM CrutsC Van Broeckhoven et al.

A1 Journal Article in JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

G Van GoethemJJ MartinBart DermautA LöfgrenA WibailD VerverkenP TackI DehaeneM Van ZandijckeM Moonen et al.

A1 Journal Article in NEUROMUSCULAR DISORDERS

Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in western Europe

R RademakersBart DermautK PeetersM CrutsP HeutinkA GoateC Van Broeckhoven

A1 Journal Article in HUMAN MUTATION

2002

Atypical clinical phenotype in a 2 octapeptide repeat insert mutation in the prion protein gene

E CroesK SleegersG RoksC van DuijnJ TheunsBart DermautC Van BroeckhovenJ van Swieten

Behavioral and psychological signs and symptoms in patients with dementia of the Alzheimer type (DAT) and frontotemporal dementia (FTD): no effect of APOE genotype

S EngelborghsBart DermautM CrutsC Van BroeckhovenPP De Deyn

Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: the Rotterdam study

G RoksM CrutsJJ Houwing-DuistermaatBart DermautS SerneelsLM HavekesA HofmanMMB BretelerC Van BroeckhovenCM van Duijn

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Familial dementia caused by MAPT R406W clinically resembles Alzheimer's disease

R RademakersBart DermautK PeetersM PellisM CrutsC Van Broeckhoven

Homozygosity of valine at PRNP codon 129 is associated with early onset Alzheimer's disease in a Dutch population based sample

Bart DermautR RademakersM Van den BroeckM CrutsC Van BroeckhovenE CroesCM van Duijn

In vitro analysis of Alzheimer's disease-related presenilin 1 and 2 mutations: effect on beta-amyloid processing

J TheunsS Kumar-SinghBart DermautK VennekensE CorsmitM CrutsC Van BroeckhovenCM van Duijn

Nicastrin significantly modifies risk for familial early-onset Alzheimer's disease in a Dutch population based sample

Bart DermautJ TheunsM Van den BroeckK VennekensE CorsmitM CrutsC Van BroeckhovenK SleegersCM van DuijnH Hasegawa et al.

Novel German APP V715A mutation associated with presenile Alzheimer's disease

M CrutsBart DermautS Kumar-SinghR RademakersM Van den BroeckC Van BroeckhovenF Stögbauer

Systematic analysis of the effect of novel Alzheimer disease PS1/2 mutations on A beta secretion

J TheunsS Kumar-SinghBart DermautK VennekensE CorsmitM CrutsCM Van DuijnC Van Broeckhoven

Tau negative frontal lobe dementia at 17q21 : significant finemapping of the candidate region to a 4.8 cM interval

R RademakersM CrutsBart DermautK SleegersSM RossoM Van den BroeckH BackhovensJ van SwietenCM van DuijnC Van Broeckhoven

A1 Journal Article in MOLECULAR PSYCHIATRY

Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cm interval

M CrutsR RademakersBart DermautK SleegersSM RossoM Van den BroeckH BackhovensJ van SwietenCM van DuijnC Van Broeckhoven

Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cm interval

R RademakersM CrutsBart DermautM Van den BroeckH BackhovensC Van BroeckhovenK SleegersCM van DuijnSM RossoJ van Swieten

Tau negative frontal lobe dementia at 17q21: significant finernapping of the candidate region to a 4.8cM interval

R RademakersM CrutsBart DermautK SleegersSM RossoM Van den BroeckH BackhovensJ van SwietenCM van DuijnC Van Broeckhoven

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

Bart DermautJessie TheunsKristel SleegersHiroshi HasegawaMarleen Van den BroeckKrist'l VennekensEllen CorsmitPeter St George-HyslopMarc CrutsCornelia M van Duijn et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2001

Amyloid beta-secretase gene (BACE) is neither mutated nor associated with early-onset Alzheimers disease

M CrutsBart DermautR RademakersG RoksM Van den BroeckG MunteanuCM van DuijnC Van Broeckhoven

Amyloid β secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease

Marc CrutsBart DermautRosa RademakersGerwin RoksMarleen Van den BroeckGabriela MunteanuCornelia M van DuijnChristine Van Broeckhoven

A1 Journal Article in NEUROSCIENCE LETTERS

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia

Hiroto FujigasakiJean-Jacques MartinPeter Paul De DeynAgnès CamuzatDidier DeffondGiovanni StevaninBart DermautChristine Van BroeckhovenAlexandra DürrAlexis Brice

A1 Journal Article in BRAIN

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation

Bart DermautS Kumar-SinghC De JongheM CrutsA LöfgrenU LübkeP CrasR DomPP De DeynJJ Martin et al.

A1 Journal Article in BRAIN

Chromosome 17 linked dementia in the absence of tau mutations

R RademakersM CrutsBart DermautG RoksM Van den BroeckCM Van DuijnC Van Broeckhoven

Homozygosity of the prion Met129Val polymorphism increases risk of developing clinical early-onset but not late-onset Alzheimer's disease

Bart DermautE CroesM CrutsM Van den BroeckCM van DuijnC Van Broeckhoven

Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob disease phenotype

Bart Van EverbroeckEsther A CroesPhilippe PalsBart DermautGerard JansenCornelia M van DuijnMarc CrutsChristine Van BroeckhovenJean-Jacques MartinPatrick Cras

A1 Journal Article in NEUROSCIENCE LETTERS

Mutated POLG associated with progressive external ophtalmoplegia characterised by multiple mtDNA deletions

G Van GoethemBart DermautA LöfgrenJJ MartinC Van Broeckhoven

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Gert Van GoethemBart DermautAnn LöfgrenJean-Jacques MartinChristine Van Broeckhoven

A1 Journal Article in NATURE GENETICS

The cystatin C polymorphism is not associated with early onset Alzheimer's disease

G RoksM CrutsAJC SlooterBart DermautA HofmanC Van BroeckhovenCM Van Duijn

A1 Journal Article in NEUROLOGY

The TNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease

Jessie TheunsLars FeukBart DermautJurgen Del-FaveroGerwin RoksDirk Van den BosscheEllen CorsmitMarleen Van den BroeckCornelia M van DuijnMarc Cruts et al.

A1 Journal Article in HUMAN GENETICS

Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's disease

Bart DermautG RoksJ TheunsR RademakersJJ Houwing-DuistermaatS SerneelsA HofmanMMB BretelerM CrutsC Van Broeckhoven et al.

A1 Journal Article in JOURNAL OF NEUROLOGY

2000

Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion

Bart DermautMarc CrutsHubert BackhovensUrsula LubkeBart Van EverbroeckRaf SciotRené DomJean-Jacques MartinChristine Van BroeckhovenPatrick Cras

A1 Journal Article in JOURNAL OF NEUROLOGY

Genetic testing should not be advocated as a diagnostic tool in familial forms of dementia

Esther A CroesBart DermautTischa JM van der CammenChristine van BroeckhovenCornelia M van Duijn

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression

Jessie TheunsJurgen Del-FaveroBart DermautCornelia M van DuijnHubert BackhovensMarleen Van den BroeckSally SerneelsEllen CorsmitChristine Van BroeckhovenMarc Cruts

A1 Journal Article in HUMAN MOLECULAR GENETICS

The α2-macroglobulin gene in AD : a population-based study and meta-analysis

MN KosterBart DermautM CrutsJJ Houwing-DuistermaatG RoksJ TolA OttA HofmanG MunteanuMMB Breteler et al.

A1 Journal Article in NEUROLOGY

1999

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Aβ42 secretion

Chris De JongheMarc CrutsEkaterina A RogaevaCarolyn TysoeAndrew SingletonHugo VandersticheleWendy MeschinoBart DermautInge VanderhoevenHubert Backhovens et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimers disease by increased a beta 42 secretion

M CrutsC De JongheEA RogaevaC TysoeA SingletonH VandersticheleW MeschinoBart DermautI VanderhoevenH Backhovens et al.

Glu318gly in presenilin-1 is a neutral mutation in relation to dementia: the Rotterdam study

Bart DermautM CrutsAJC SlooterS Van GestelC De JongheH BackhovensH VandersticheleE VanmechelenMMB BretelerA Hofman et al.

Mutation screening of the tau gene in patients with early-onset Alzheimer's disease

Gerwin RoksBart DermautPeter HeutinkAnn JulliamsHubert BackhovensMarleen Van de BroeckSally SerneelsAlbert HofmanChristine Van BroeckhovenCornelia M van Duijn et al.

A1 Journal Article in NEUROSCIENCE LETTERS

Polymorphisms in the 5' regulatory region of presenilin 1 associated with an increased risk for early-onset Alzheimers disease

J TheunsJ Del-FaveroBart DermautCM van DuijnH BackhovensM Van den BroeckS SerneelsC Van BroeckhovenM Cruts

The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease

Bart DermautMarc CrutsArjen JC SlooterSofie Van GestelChris De JongheHugo VandersticheleEugeen VanmechelenMonique M BretelerAlbert HofmanCornelia M van Duijn et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

1997

Monosomy 22 in a mixed germ cell sex cord stromal tumor of the ovary

Franki SpelemanBart DermautChristian R De PotterMireille Van GeleNadine Van RoyAnne De PaepeGenevieve Laureys

A1 Journal Article in GENES CHROMOSOMES & CANCER

1996

A putative tumor suppressor gene involved in Merkel cell carcinoma maps between p58 and D172

Franki SpelemanML GeertsFilomeen HaerynckBart DermautNadine Van Roy