Research Explorer

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Researcher

Arnaud Vanlander

66 Results

2022

Clinical heterogeneity in MT-ATP6 pathogenic variants : same genotype—different onset

Sara CapiauJoél SmetBoel De PaepeYilmaz YildizMutluay ArslanOlivier StevensMaxime VerschooreHedwig StepmanSara SenecaArnaud Vanlander

A1 Journal Article in CELLS

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vincente A YépezMirjana GusicRobert KopajtichChristian MertesNicholas H SmithCharlotte L AlstonRui BanSkadi BebloRiccardo BeruttiHolger BlessingElzbieta CiaraFelix DistelmaierPeter FreisingerJohannes HäberleSusan J HayflickMarja HempelYulia S ItkisYoshihito KishitaThomas KlopstockTatiana D KrylovaCostanza LampertiDominic LenzChristine MakowskiSigne MosegaardMichalea F MüllerGerard Muñoz-PujolAgnieszka NadelAkira OhtakeYasushi OkazakiElena ProcopioThomas SchwarzmayrJoél SmetChristian StaufnerSarah L StentonTim M StromCaterina TerrileFrederic TortRudy Van CosterArnaud VanlanderMatias WagnerManting XuFang FangDaniele GhezziJohannes A MayrDorota Piekutowska-AbramczukAntonia RibesAgnès RötigRobert W TaylorSaskia B WortmannKei MurayamaThomas MeitingerJulien GagneurHolger Prokisch

U Journal Article in Genome Med

Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly

Delfien BogaertRuth De BruyneArnaud VanlanderLara GarabedianYves LouisFilomeen HaerynckVictoria BordonBarbara De Moerloose

A1 Journal Article in PEDIATRIC ALLERGY AND IMMUNOLOGY

Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI

Maoxing TangAnnekatrien BoelNoemi CastelluccioArantxa Cardona BarberánAntonia ChristodoulakiBieke BekaertMina PopovicFrauke Vanden MeerschautPetra De SutterBjörn MentenSofie SymoensArnaud VanlanderDominic StoopPaul CouckeBjörn Heindryckx

A1 Journal Article in JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Neonatal lactic acidosis explained by LARS2 defect

Boel De PaepeJoél SmetRobert KopajtichHolger ProkischRudy Van CosterArnaud Vanlander

U Journal Article in Pediatric Research

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

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

2021

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

Eva JacobsKathleen BrownMelissa C. BylerErika D'haenensAnnelies DheedeneLindsay B. HendersonJennifer B. HumbersonRichard H. JaarsveldFarah KananiRobert Roger LebelFrancisca MillanRenske OegemaAnna OostraMichael J. ParkerLindsay RhodesMargarita SaenzLaurie H. SeaverYue SiArnaud VanlanderSarah VergultBert Callewaert

A1 Journal Article in CLINICAL GENETICS

Hoe ontstaan chronische klachten bij patiënten met fibromyalgie? De insula, een hersengebied met een mogelijke sleutelrol

Boel De PaepeJoél SmetChris BaekenMira MeeusIndra De GreefArnaud VanlanderJessica Van Oosterwijck

A2 Journal Article in HUISARTS NU (BERCHEM)

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU) : an open-label, single-arm, multicentre, phase 3 trial

E MercuriF MuntoniG BaranelloR MassonO Boespflug-TanguyC BrunoS CortiA DaronNicolas DeconinckL ServaisV StraubH OuyangD ChandS Tauscher-WisniewskiN MendoncaA LavrovSTR1VE-EU study groupArnaud Vanlander

A1 Journal Article in LANCET NEUROLOGY

Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function

Karen RosierMolly T. McDevittJoél SmetBrendan J. FloydMaxime VerschooreMaria J. MarcaidaCraig A. BingmanIrma LemmensMatteo Dal PeraroJan TavernierBenjamin F. CravattNatalia V GounkoKatlijn VintsYenthe MonnensKritika BhallaLaetitia AertsEdrees H. RashanArnaud VanlanderRudy Van CosterLuc RegalDavid J. PagliariniJohn W. M. Creemers

A1 Journal Article in ISCIENCE

SeroCovid19 : prospective seroprevalence monitoring reveals substantially reduced SARS-CoV-2 infection rate among tertiary pediatric patients

Levi HosteAgnieszka Prytula-EbelsJo DehoorneRuth De BruyneStephanie Van BiervlietKathleen De WaelePetra SchelstraeteEvelyn MaesMaria Bordon Cueto De BraemArnaud VanlanderJoke Van VlaenderenDelphine DinnewethJohan Vande WalleSabine Van daeleFilomeen Haerynck

2020

Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain

Jonas GörlachDaniel AmselHeike KölbelMichelle GrzybowskyFrank RutschHannah SchlierbachArnaud VanlanderEsther Pogatzki-ZahnKathrin HabigStefanie GarkischVerena MüllerThorsten FritzAndreas ZieglerAndreas HahnHeidrun H KrämerRudy Van CosterAnne Schänzer

A1 Journal Article in MUSCLE & NERVE

2019

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Gregory CostainBert CallewaertHeinz GabrielTiong Y TanSusan WalkerJohn ChristodoulouTamas LazarBjörn MentenJulia OrkinSimon SadedinMeaghan SnellArnaud VanlanderSarah VergultSusan M WhiteStephen W SchererRobin Z HayeemsSusan BlaserShoshana J WodakDavid ChitayatChristian R MarshallM Stephen Meyn

A1 Journal Article in GENETICS IN MEDICINE

2018

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects

Delfien BogaertHye Sun KuehnCarolien BonroyKatherine R CalvoJo DehoorneArnaud VanlanderMarieke De BruyneUrszula CytlakVenetia BigleyFrans De BaetsElfride De BaereSergio D RosenzweigFilomeen HaerynckMelissa Dullaers

A1 Journal Article in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway

Arnaud VanlanderRudy Van Coster

A1 Journal Article in JOURNAL OF BIOLOGICAL INORGANIC CHEMISTRY

Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ

Rudy Van CosterJoél SmetBoel De PaepeElise VantroysFemke NachtergaeleSarah VergultBjörn MentenArnaud VanlanderFrançois-Guillaume Debray

Cyclic vomiting in a subject with homoplasmic m.14674T>C alteration

Elise VantroysBoel De PaepeJoél SmetFemke NachtergaeleSara SenecaArnaud VanlanderRudy Van Coster

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT

Dimitri HemelsoetArnaud VanlanderJoél SmetElise VantroysMarjan AcouIngeborg GoethalsTom SanteSara SenecaBjörn MentenRudy Van Coster

A1 Journal Article in NEUROLOGY-GENETICS

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

Elise VantroysJoél SmetArnaud VanlanderSarah VergultRuth De BruyneFrank RoelsHedwig StepmanHerbert RoeyersBjörn MentenRudy Van Coster

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy

Arnaud VanlanderHelene VerhelstElise VantroysJoél SmetBoel De PaepeSarah VergultBjörn MentenRudy Van Coster

Tigecycline-induced inhibition of mitochondrial DNA translation may cause lethal mitochondrial dysfunction in humans

S. J. VandecasteeleS. SenecaJoél SmetM. ReyndersJ. De CeulaerArnaud VanlanderRudy Van Coster

A1 Journal Article in CLINICAL MICROBIOLOGY AND INFECTION

2017

New insights into the phenotype of FARS2 deficiency

Elise VantroysAustin LarsonMarisa FriederichKaz KnightMichael A SwansonChristopher A PowellJoél SmetSarah VergultBoel De PaepeSara SenecaHerbert RoeyersBjörn MentenMichal MinczukArnaud VanlanderJohan Van HoveRudy Van Coster

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

Nusinersen versus sham control in infantile-onset spinal muscular atrophy

RS FinkelE MercuriBT DarrasAM ConnellyNL KuntzJ KirschnerCA ChiribogaK SaitoL ServaisE TizzanoH TopalogluM TuliniusJ MontesAM GlanzmanK BishopZJ ZhongS GheuensCF BennettE SchneiderW FarwellDC De Vivothe ENDEAR Study GroupRudy Van CosterRuth Van der LoovenArnaud VanlanderHelene VerhelstSylvia Wittevrongel

A1 Journal Article in NEW ENGLAND JOURNAL OF MEDICINE

To B or not to B matured : a novel IKAROS haploinsufficiency kindred with incomplete penetrance both at clinical and cellular level

Delfien BogaertHye Sun KuehnCarolien BonroyKatherine CalvoJo DehoorneArnaud VanlanderMarieke De BruyneVenetia BigleyPetra SchelstraeteFrans De BaetsElfride De BaereSergio RosenzweigFilomeen HaerynckMelissa Dullaers

To B or not to B matured : a novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B cell maturation defects

Delfien BogaertHye Sun KuehnCarolien BonroyKatherine CalvoJo DehoorneArnaud VanlanderPetra SchelstraeteMarieke De BruyneUrszula CytlakVenetia BigleyFrans De BaetsElfride De BaereSergio RosenzweigFilomeen HaerynckMelissa Dullaers

2016

Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype

Charlotte L AlstonAlison G ComptonLuke E FormosaValentina StreckerMonika OláhováTobias B HaackJoél SmetKatrien StouffsPeter DiakumisElżbieta CiaraDavid CassimanNadine RomainJohn W YarhamLangping HeBoel De PaepeArnaud VanlanderSara SenecaRené G FeichtingerRafal PłoskiDariusz RokickiEwa PronickaRonald G HallerJohan LK Van HoveMelanie BahloJohannes A MayrRudy Van CosterHolger ProkischIlka WittigMichael T RyanDavid R ThorburnRobert W Taylor

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Clinical, biochemical and genetic spectrum of mitochondrial disorders in Egyptian children : a study of 19 cases

LA SelimD MehaneyRudy Van CosterSA HassanIG MahmoudAI El BadawyArnaud VanlanderJoél SmetElien De LatterKatrien VandemeulebroeckeGA NakhlaM MostafaD HabetsJ BakkerA Abdel Barry

Combined OXPHOS deficiencies caused by defects in transcription or translation due to nuclear gene dysfunctions and pharmacological compounds

Arnaud VanlanderRudy Van CosterBjörn Menten

Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses

Arnaud VanlanderLaura Muiño MosqueraJoseph PanzerTine DeconinckJoél SmetSara SenecaJo Van DorpeLiesbeth FerdinandeChantal Ceuterick-de GrootePeter De JongheRudy Van CosterJonathan Baets

A1 Journal Article in MITOCHONDRION

Mild early epileptic encephalopathy evolving to spastic paraplegia, neurogenic bladder and generalized slow colon transit in an 18-year old patient with pathogenic mutations in FARS2

Elise VantroysJoél SmetArnaud VanlanderBoel De PaepeSarah VergultTom SanteBjörn MentenRudy Van Coster

Pathogenic mutations in FARS2 in a patient with motor regression and epilepsy as first signs, later evolving to spastic paraplegia associated with autonomic disturbances

Elise VantroysJoél SmetArnaud VanlanderBoel De PaepeSarah VergultTom SanteBjörn MentenRudy Van Coster

Pathogenic mutations in TMEM126b, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families

Rudy Van CosterJoél SmetBoel De PaepeArnaud VanlanderElise VantroysC AlstonA ComptonD TorburnS SenecaR Taylor

RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome

FILOMEEN HAERYNCKPatrick VerlooDelfien BogaertJoél SmetArnaud VanlanderMaria Bordon Cueto De BraemHelene VerhelstRudy Van CosterBjörn MentenMelissa Dullaers

Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2

PATRICK VERLOOJoél SmetElise VantroysArnaud VanlanderSarah VergultTom SanteBjörn MentenRudy Van Coster

2015

A new pathogenic mutation in the iron-sulfur cluster assembly gene IBA57 causes impaired protein function leading to massive early leukoencephalopathy

Guillaume DebrayClaudia StumpfigArnaud VanlanderJoél SmetV DidebergC JosseJH CabergF BoemerV BoursR StevensR LillRudy Van Coster

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Sara SenecaKim VancampenhoutRudy Van CosterJoél SmetWilly LissensArnaud VanlanderBoel De PaepeAn JonckheereKatrien StouffsLinda De Meirleir

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical, biochemical and genetic spectrum of mitochondrial disorders in Egyptian children : a study of 17 cases

Laila SelimDina MehaneyRudy Van CosterSawsan Abdel HadiIman GamalMariane YoussryAmira El BadawyaArnaud VanlanderJoél SmetElien De LatterKatrien VandemeulebroeckeDoaa AbdoGina NakhlaMohamed MostafaDaphna HabetsJaap BakkerAmr Abdel Bary

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Uwe AhtingJohannes A MayrArnaud VanlanderSteven A HardySaikat SantraChristine MakowskiCharlotte L AlstonFranz A ZimmermannLucia AbelaBarbara PleckoMarianne RohrbachStephanie SprangerSara SenecaBoris RolinskiAngela HagendorffMaja HempelWolfgang SperlThomas MeitingerJoél SmetRobert W TaylorRudy Van CosterPeter FreisingerHolger ProkischTobias B Haack

A1 Journal Article in FRONTIERS IN GENETICS

Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions

Claudine De PraeterArnaud VanlanderPiet VanhaesebrouckJoél SmetSara SenecaPetra De SutterRudy Van Coster

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

Forearm deoxyhemoglobin and deoxymyoglobin (deoxy[Hb + Mb]) measured by near-infrared spectroscopy (NIRS) using a handgrip test in mitochondrial myopathy

Bert CelieJan BooneJoél SmetArnaud VanlanderJan De BleeckerRudy Van CosterJan Bourgois

A1 Journal Article in APPLIED SPECTROSCOPY

Lipomas : an unexpected phenotype of mitochondrial DNA mutations

Joél SmetArnaud VanlanderDavid CreytensB LengeléN RevencuS SenecaRudy Van Coster

Mitochondria in peroxisome-deficient hepatocytes exhibit impaired respiration, depleted DNA, and PGC-1α independent proliferation

Annelies PeetersAbhijit Babaji ShindeRuud DirckxJoél SmetKatrien De BockMarc EspeelIlse VanhorebeekArnaud VanlanderRudy Van CosterPeter CarmelietMarc FransenPaul P Van VeldhovenMyriam Baes

A1 Journal Article in BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Multiple symmetrical lipomatosis: an uncommon presentation of a mitochondrial disease

Rudy Van CosterJoél SmetArnaud VanlanderB LengeléS SenecaN Revencu

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

François-Guillaume DebrayClaudia StümpfigArnaud VanlanderVinciane DidebergClaire JosseJean-Hubert CabergFrançois BoemerVincent BoursRené StevensSara SenecaJoél SmetRoland LillRudy Van Coster

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Curtis R, II CoughlinGunter H ScharerMarisa W FriederichHung-Chun YuElizabeth A GeigerGeralyn Creadon-SwindellAbigail E CollinsArnaud VanlanderRudy Van CosterChristopher A PowellMichael A SwansonMichal MinczukJohan LK Van HoveTamim H Shaikh

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Possible pathogenic mechanism of propofol infusion syndrome involves coenzyme Q

Arnaud VanlanderJuergen Guenther OkunANNIK DE JAEGERJoél SmetElien De LatterBoel De PaepeGeorges DacremontBrigitte WuytsBert VanheelPeter De PaepeP JorensN Van RegenmortelRudy Van Coster

A1 Journal Article in ANESTHESIOLOGY

Recurrent duplications of 17q12 associated with variable phenotypes

Elyse MitchellAndrew DouglasSusanne KjaegaardBert CallewaertArnaud VanlanderSandra JanssensAmy Lawson YuenCindy SkinnerPinella FaillaAntonino AlbertiEmanuela AvolaMarco FicheraMaria KibaekMaria C DigilioMark C HannibalNicolette S den HollanderVeronica BizzarriAlessandra RenieriMaria Antonietta MencarelliTomas FitzgeraldSerena PiazzollaElke Van OudenhoveCorrado RomanoCharles SchwartzEvan E EichlerAnne SlavotinekLuis EscobarDiana RajanJohn CrollaNigel CarterJennelle C HodgeHeather C Mefford

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation

Ilse MeerschautMaria Bordon Cueto De BraemCatharina DhoogePatricia DelbekeArnaud VanlanderAmos SimonChristoph KleinR Frank KooyRaz SomechBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)

Arnaud VanlanderBjörn MentenJoél SmetLinda De MeirleirTom SanteBoel De PaepeSara SenecaSarah F PearceChristopher A PowellSarah VergultAlex MichotteElien De LatterLies VantommeMichal MinczukRudy Van Coster

A1 Journal Article in HUMAN MUTATION

2014

A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome

Kim VancampenhoutBen CaljonClaudia SpitsKatrien StouffsAn JonckheereLinda De MeirleirWilly LissensArnaud VanlanderJoél SmetBoel De PaepeRudy Van CosterSara Seneca

A1 Journal Article in PLOS ONE

Did lightning strike twice?

Sara SenecaE FosselleJan De BleeckerKim VancampenhoutWilly LissensK StouffsA JonckheereRudy Van CosterJoél SmetBoel De PaepeArnaud VanlanderLinda De Meirleir

Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects

Boel De PaepeKatrien VandemeulebroeckeJoél SmetArnaud VanlanderSara SenecaWilly LissensJohan LK Van HoveEllen DeschepperPaz BrionesRudy Van Coster

A1 Journal Article in PHYTOTHERAPY RESEARCH

Forearm muscle oxygenation responses during and following arterial occlusion in patients with mitochondrial myopathy

Jan BooneBert CelieJasmien DumortierThomas J BarstowJan De BleeckerJoél SmetArnaud VanlanderRudy Van CosterJan Bourgois

A1 Journal Article in RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Robert KopajtichThomas J NichollsJoanna RorbachMetodi D MetodievPeter FreisingerHanna MandelArnaud VanlanderDaniele GhezziRosalba CarrozzoRobert W TaylorKlaus MarquardKei MurayamaThomas WielandThomas SchwarzmayrJohannes A MayrSarah F PearceChristopher A PowellAnn SaadaAkira OhtakeFederica InvemizziEleonora LamanteaEwen W SommervilleAngela PylePatrick F ChinneryEllen CrushellYasushi OkazakiMasakazu KohdaYoshihito KishitaYoshimi TokuzawaZahra AssoulineMarlène RioFrancois FeilletBénédict Mousson de CamaretDominique ChretienArnold MunnichBjörn MentenTom SanteJoél SmetLuc RégalAbraham LorberAsaad KhouryMassimo ZevianiTim M StromThomas MeitingerEnrico S BertiniRudy Van CosterThomas KlopstockAgnès RötigTobias B HaackMichal MinczukHolger Prokisch

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Two siblings with myopathy, mild mental retardation and combined OXPHOS deficiencies caused by a mutation in the gene encoding asparaginyl tRNA synthetase, NARS2

Arnaud VanlanderM MinczukTom SanteJoél SmetBoel De PaepeLinda De MeirleirBjörn MentenRudy Van Coster

Ullrich congenital muscular dystrophy: a new cellular study on cultured skin fibroblasts

Nicolas DeconinckBoel De PaepeSofie SymoensArnaud VanlanderC GartiouxValerie AllamandJoél SmetBart DevreeseRudy Van Coster

2013

A homozygous mutation in IBA57 involved in intramitochondrial iron-sulfur cluster synthesis causes severe encephalopathy and mypathy in two neonates

Arnaud VanlanderClaudia WillbrechtNikhita Ajit BolarJoél SmetBoel De PaepeElien De LatterLut Van LaerBart LoeysRoland LillRudy Van Coster

A novel compound heterozygous mutation in NFU1 as cause of iron-sulfur cluster biosynthesis

Rudy Van CosterJoél SmetBoel De PaepeArnaud VanlanderElien De LatterLinda De MeirleirWilly LissensSara Seneca

Fatal outcome of iron-sulfur cluster scaffold NFU1 gene mutations in a neonatal patient

Sara SenecaJoél SmetArnaud VanlanderRudy Van CosterD RolandBoel De PaepeWilly LissensM BonduelleLinda De Meirleir

Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy

N Ajit BolarArnaud VanlanderC WilbrechtNathalie Van der AaJoél SmetBoel De PaepeG VandeweyerF KooyFrançois EyskensElien De LatterG DelangheP GovaertJuliaan LeroyRoland LillRudy Van CosterLut Van LaerBart Loeys

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Nikhita Ajit BolarArnaud VanlanderClaudia WilbrechtNathalie Van der AaJoél SmetBoel De PaepeGeert VandeweyerFrank KooyFrançois EyskensElien De LatterGwenda DelanghePaul GovaertJuliaan LeroyBart LoeysRoland LillLut Van LaerRudy Van Coster

A1 Journal Article in HUMAN MOLECULAR GENETICS

2012

Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for detection of oxidative phosphorylation defects

Boel De PaepeJoél SmetArnaud VanlanderSara SenecaWilly LissensLinda De MeirleirMado VandewoestyneDieter DeforceRichard J RodenburgRudy Van Coster

A1 Journal Article in PEDIATRIC RESEARCH

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

Arnaud VanlanderPG JorensJoél SmetBoel De PaepeW VerbruggheGG Van den EyndenF MeireP PauwelsN Van der AaS SenecaW LissensJG OkunRudy Van Coster

A1 Journal Article in ACTA ANAESTHESIOLOGICA SCANDINAVICA

2010

Propranolol as a novel treatment for congenital visceral haemangioma

ARNAUD VANLANDERWim DecaluweMichel VandelanotteChris Van GeetLuc Cornette

A1 Journal Article in NEONATOLOGY

2009

MECHANISM OF LACTIC ACIDOSIS IN PATIENTS WITH THE PROPOFOL INFUSION SYNDROME (PRIS)

Rudy Van CosterArnaud VanlanderJoél SmetHelene VerhelstPATRICK VERLOOANNIK DE JAEGER

PATHOPHYSIOLOGY OF PROPOFOL INFUSION SYNDROME (PRIS)

Arnaud VanlanderANNIK DE JAEGERJoél SmetRudy Van Coster