Research Explorer

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Researcher

Arnaud Vanlander

Publications & Research Data

Awards & Distinctions

87 Results

2025

Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases : results of a European reference network survey

Julia NeugebauerKarit ReinsonMarcello BellusciJulien H. ParkOmar HikmatEnrico BertiniManuel SchiffShamima RahmanArnaud Vanlander[missing] MetabERN PM‐MD Consortium

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

Genetic background of patients with childhood-onset cardiomyopathy : results from a retrospective cohort study

Wannes RendersEvelien CansseMax BascialliJoseph PanzerHans De WildeKristof VandekerckhoveBert CallewaertArnaud VanlanderKatya De GrooteDaniël De Wolf et al.

Genetic basis of hypsarrhythmia : expanding the PHACTR1 spectrum and pathway to targeted therapy

Karen WillièmeAnnelies DheedeneArnaud VanlanderPATRICK VERLOOHelene Verhelst

A1 Journal Article in CLINICAL GENETICS

Longitudinal analysis of a patient-reported outcome (ACTIVLIM) in Duchenne muscular dystrophy : a registry-based study

M. CosynsM. JagutN. De MeulemeesterJ. BaetsD. BeysenK. ClaeysN. DeconinckJan De BleeckerL. De WaeleN. Dubuisson et al.

Mapping challenges in the accessibility of treatment products for urea cycle disorders : a survey of European healthcare professionals

Nina N. StolwijkJohannes HäberleHidde H. HuidekoperMargreet A. E. M. WagenmakersCarla E. M. HollakAnnet M. BoschArnaud Vanlander[missing] the E‐IMD and MetabERN Working Group on the Real‐World Use of products for UCD Management

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial dysfunction characterises the multigenerational effects of maternal obesity on MASLD

Anneleen HeldensMilton Boaheng AntwiLouis OnghenaTim MeeseYannick GansemansJoél SmetEllen DupontXavier VerhelstSarah RaevensHans Van Vlierberghe et al.

A1 Journal Article in JHEP REPORTS

Neonatal cholestasis progressing to a multisystem syndrome with liver cirrhosis in two siblings with FARSA deficiency : an evolving hepatological phenotype

Yoni AelvoetPATRICK VERLOOArnaud VanlanderSaskia Vande VeldeStephanie Van BiervlietPauline De BruyneLevi HosteAnnelies DheedeneLore PottieAnne Hoorens et al.

A2 Journal Article in JIMD REPORTS

Palliative care for children and adults with inherited metabolic disease in Europe : an underutilised service for supportive treatment and care

Anja LeeYngve Thomas BliksrudMichela OnaliJulia NeugebauerFrancois EyskensDorothea HaasKarin MosslerAntije EnekweBeata Kiec‐WilkLien My Diep et al.

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

2024

Congenital myasthenic syndromes in Belgium : genetic and clinical characterization of pediatric and adult patients

Nathalie SmeetsAlexander GheldofBart DequekerMargaux PoleurSofia Maldonado SlootjesVinciane Van ParijsNicolas DeconinckPauline DontaineAlicia Alonso-JimenezJan De Bleecker et al.

A1 Journal Article in PEDIATRIC NEUROLOGY

Efficacy of SMA NBS : 4-year comparative study with control group

T. DangouloffL. De WaeleD. BeysenN. SmeetsArnaud VanlanderN. BenmhammedC. TychonA. DaronN. DeconinckP. Dontaine et al.

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Cecile BrachetAlexander LaemmleMartine CoolsKay-Sara SauterElfride De BaereArnaud VanlanderAmit V. PandeyTherina Du ToitClarissa D. VoegelClaudine Heinrichs et al.

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Cécile BrachetAlexander LaemmleMartine CoolsKay-Sara SauterElfride De BaereArnaud VanlanderAmit V PandeyTherina du ToitClarissa D VoegelClaudine Heinrichs et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

2023

Comparison of SARS-CoV-2 seroconversion in children with chronic diseases with healthy children and adults during the first waves of the COVID-19 pandemic

Levi HosteAgnieszka Prytula-EbelsJo DehoorneRuth De BruyneStephanie Van BiervlietKathleen De WaeleEvelyn MaesVictoria BordonArnaud VanlanderKarlien Claes et al.

A1 Journal Article in FRONTIERS IN PEDIATRICS

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

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

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Elizabeth E. PalmerMichael PuschAlessandra PicolloCaitlin ForwoodMatthew H. NguyenVanessa SuckowJessica GibbonsAlva HoffLisa SigfridAndre Megarbane et al.

A1 Journal Article in MOLECULAR PSYCHIATRY

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

Neonatal lactic acidosis explained by LARS2 defect

Boel De PaepeJoél SmetRobert KopajtichHolger ProkischRudy Van CosterArnaud Vanlander

A1 Journal Article in PEDIATRIC RESEARCH

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

Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

E. MercuriA. M. SeferianL. ServaisN. DeconinckH. StevensonX. NiW. ZhangL. EastS. YonrenF. Muntoni et al.

A1 Journal Article in NEUROMUSCULAR DISORDERS

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 Blessing et al.

A1 Journal Article in GENOME MEDICINE

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 Menten et al.

A1 Journal Article in JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

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

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 Lebel et al.

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 Servais et al.

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 Tavernier et al.

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 Vanlander et al.

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 Garkisch et al.

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 Sadedin et al.

A1 Journal Article in GENETICS IN MEDICINE

The presence of serum autoantibodies and donor-specific anti-HLA antibodies in pediatric liver tranplant recipients is associated with histological and biochemical parameter of graft dysfunction

Emma SaelensCarolien BonroySaskia Vande VeldeStephanie Van BiervlietMyriam Van WinckelXavier RogiersArnaud VanlanderRuth De Bruyne

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 Baets et al.

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

Evaluation of compliance in young transplant patients

Anja GeertsRuth De BruyneXavier RogiersArnaud VanlanderProf dr Carine Poppe

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 Seneca et al.

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 Tizzano et al.

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 Baets et al.

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 Bigley et al.

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 Ciara et al.

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 Vandemeulebroecke et al.

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 Jonghe et al.

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

Mitochondrial neurogastrointestinal encephalopathy : clinical, biochemical and molecular study in three Egyptian patients

L SelimRudy Van CosterD MehaneyF HassanArnaud VanlanderJoél SmetElien De LatterKatrien VandemeulebroeckeDM AbdouG Nakhla et al.

A1 Journal Article in GENETIC COUNSELING

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 Stevens et al.

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 Latter et al.

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 Plecko et al.

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 Carmeliet et al.

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 Seneca et al.

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 Powell et al.

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 Paepe et al.

A1 Journal Article in ANESTHESIOLOGY

Recurrent duplications of 17q12 associated with variable phenotypes

Elyse MitchellAndrew DouglasSusanne KjaegaardBert CallewaertArnaud VanlanderSandra JanssensAmy Lawson YuenCindy SkinnerPinella FaillaAntonino Alberti et al.

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 Vergult et al.

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 Paepe et al.

A1 Journal Article in PLOS ONE

Did lightning strike twice?

Sara SenecaE FosselleJan De BleeckerKim VancampenhoutWilly LissensK StouffsA JonckheereRudy Van CosterJoél SmetBoel De Paepe et al.

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 Taylor et al.

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 gene IBA57 causes severe myopathy and encephalopathy

Nikhita Ajit BolarArnaud VanlanderClaudia WilbrechtNathalie Van der AaJoél SmetBoel De PaepeGeert VandeweyerFrank KooyFrançois EyskensElien De Latter et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

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 Latter et al.

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 Seneca et al.

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