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.

Project

Precision genomics in neurodegenerative brain disease: from patients to small model organisms and single cells

Outputs and Outcomes

Publications

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

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 BogaertSara DufourFumiya OkawaPascale HilbertNike Van DoninckMarie-Caroline TaquetToon RosseelGriet De ClercqElke DebackereCarole Van HaverbekeFerroudja Ramdane CherifJon Andoni UrtizbereaJean-Baptiste ChansonBenoit FunalotFrançois-Jérôme AuthierSabine KayaWim TerrynSteven CallensBernard DepypereJo Van DorpeArnaud VanlanderPATRICK VERLOOPaul CouckeProgram Undiagnosed Dis UD PrOZABruce PoppeFrancis ImpensNoboru MizushimaChristel DepienneIsabelle JéruBart Dermaut et al.

A1 Journal Article in NATURE GENETICS

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 CrosiersBruno BergmansKristof VerhoevenBruce PoppeGuy LaureysSarah HerdewynTim Van LangenhovePatrick SantensJan De BleeckerDimitri HemelsoetBart Dermaut[missing] for Program for Undiagnosed Rare Diseases (UD-PrOZA) et al.

A1 Journal Article in NEUROLOGY-GENETICS

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 AuKate RichardsonHope NorthrupVincent GatinoisDavid GenevièveRaymond J. LouieMichael J. LyonsLone Walentin LaulundCharlotte Brasch-AndersenTrine Maxel JuulFatima El ItNathalie MarlePatrick CallierRaissa RelatorSadegheh HaghshenasHaley McConkeyJennifer KerkhofClaudia CesarioAntonio NovelliNicola Brunetti-PierriMichele PinelliPerrine PennamenSophie NaudionMarine LegendreCécile CourdierAurelien TrimouilleMartine Doco FenzyLynn PaisAlison YeungKimberly NugentElizabeth R. RoederTadahiro MitaniJennifer E. PoseyDaniel CalameHagith YonathJill A. RosenfeldLuciana MusanteFlavio FaletraFrancesca MontanariGiovanna SartorAlessandra VanciniMarco SeriClaude BesmondKarine PoirierLaurence HubertDimitri HemelsoetArnold MunnichJames R. LupskiChristophe PhilippeChristel Thauvin-RobinetLaurence FaivreBekim SadikovicJérôme GovinBart DermautAntonio Vitobello 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 PerbetV DeramecourtCA MaurageM VanderhaegenS VanuytvenB LefebvreElke BogaertN DéglonT VoetM ColinL BuéeBart DermautMC Galas et al.

A1 Journal Article in PROGRESS IN NEUROBIOLOGY

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 DebackereOlivier VanakkerSandra JanssensJ BaetsK VerhoevenM LammensSofie SymoensBoel De PaepeSJ BarmadaJ ShorterJan De BleeckerElke BogaertBart Dermaut et al.

A1 Journal Article in ACTA NEUROPATHOLOGICA

Moyamoya disease emerging as an immune-related angiopathy

Caroline AsselmanDimitri HemelsoetDenzel EggermontBart DermautFrancis Impens

A1 Journal Article in TRENDS IN MOLECULAR MEDICINE

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

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 VerlooArnaud VanlanderElke DebackereJody GhijselsPontus LeBlancHannah VerdinLeslie NaesensFilomeen HaerynckSteven CallensBart DermautBruce PoppeJan De BleeckerPatrick SantensPaul BoonGuy LaureysTessa Kerre[missing] for UD-PrOZA et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES