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

Joél Smet

Publications & Research Data

Awards & Distinctions

149 Results

2025

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

2023

Clinical, biochemical, and histopathological diagnosis of Egyptian paediatric patients with suspected mitochondrial diseases : a hospital-based study

D. M. AbdouL. A. SelimRudy Van CosterJoél SmetG. A. NakhlaD. A. Mehaney

A2 Journal Article in SOUTH AFRICAN JOURNAL OF CHILD HEALTH

Neonatal lactic acidosis explained by LARS2 defect

Boel De PaepeJoél SmetRobert KopajtichHolger ProkischRudy Van CosterArnaud Vanlander

A1 Journal Article in PEDIATRIC RESEARCH

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

The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival

Shanna DewaeleLouis DelhayeBoel De PaepeEric de Bony de LavergneJilke De WildeKatrien VanderheydenJasper AnckaertNurten YigitJustine NuytensEveline Vanden Eynde et al.

A1 Journal Article in ONCOGENE

The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival (Sept, 10.1038/s41388-021-02006-x, 2021)

Shanna DewaeleLouis DelhayeBoel De PaepeEric James de BonyJilke De WildeKatrien VanderheydenJasper AnckaertNurten YigitJustine NuytensEveline Vanden Eynde et al.

2021

A systematic study of a panel of mitochondrial functional testing in fibroblasts shows strong clinical utility

Johan Van HoveMarisa FriederichKaz KnightJessica LeeRoxanne Van HoveAustin LarsonMichio HiranoRussel SanetoAmy GoldsteinRebecca Ganetzky et al.

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)

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

2020

A capital role for the brain’s insula in the diverse fibromyalgia-associated symptoms

Boel De PaepeJoél SmetChris BaekenJessica Van OosterwijckMira Meeus

A1 Journal Article in MEDICAL HYPOTHESES

Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene

George K. PapadimasEfthimia VargiamiPinelopi DragoumiRudy Van CosterJoél SmetSara SenecaConstantinos PapadopoulosEvangelia KararizouDimitrios Zafeiriou

A2 Journal Article in ACTA MYOLOGICA (TESTO STAMPATO)

Nanoscopic X-ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients

Björn De SamberTom Vanden BergheEline MeulStephen BautersMartin SeyrichJoél SmetBoel De PaepeJulio Cesar da SilvaSylvain BohicPeter Cloetens et al.

A1 Journal Article in JOURNAL OF SYNCHROTRON RADIATION

2018

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?

Birgit M ReppElisa MastantuonoCharlotte L AlstonManuel SchiffTobias B HaackAgnes RötigAnna ArdissoneAnne LombèsClaudia B CatarinoDaria Diodato et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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

Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich's ataxia fibroblasts

Björn De SamberEline MeulBrecht LaforceBoel De PaepeJoél SmetMichiel De BruyneRiet De RyckeSylvain BohicPeter CloetensRudy Van Coster et al.

A1 Journal Article in PLOS ONE

New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders

Kaz KnightMarisa W FriederichRudy Van CosterJoél SmetElise VantroysMichio HiranoAmy GoldsteinJohan LK Van Hove

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

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.

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

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

TMEM70 deficiency: long-term outcome of 48 patients

Martin MagnerVeronika DvorakovaMarketa TesarovaStella MazurovaHana HansikovaMartin ZahorecKatarina BrennerovaVladimir BzduchRonen SpiegelYoseph Horovitz et al.

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

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

Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

Julie HarvengtCatherine WantyBoel De PaepeChristine SempouxNicole RevencuJoél SmetRudy Van CosterWilly LissensSara SenecaLaurent Weekers et al.

A2 Journal Article in MOLECULAR GENETICS AND METABOLISM REPORTS

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

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene

François-Guillaume DebraySara SenecaMichel GonceKim VancampenhautElettra BianchiFrançois BoemerLaurent WeekersJoél SmetRudy Van Coster

A1 Journal Article in MITOCHONDRION

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 new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms

Carter D WrayMarisa W FriederichDesiree du SartSarah PantaleoJoél SmetCathlin KuceraLaura FentonGunter ScharerRudy Van CosterJohan LK Van Hove

A1 Journal Article in MITOCHONDRION

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

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)

Emmanuel ScalaisRonit ChafaiRudy Van CosterLutz BindlChristian NuttinChryssa PanagiotarakiSara SenecaWilly LissensAntonia RibesCaroline Geers et al.

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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.

Succinyl-CoA ligase deficiency : report on the first patient resulting from a combined defect in SUGL1 an SUGL2 genes

DI ZafeiriouS BatziosE VargiamiM WillemsenE MoravaL Van den HeuvelJoél SmetRudy Van CosterS SenecaR Wanders et al.

Unraveling the mechanisms behind the enhanced MTT conversion by irradiated breast cancer cells

Stéphanie BlockhuysBarbara VanhoeckeJoél SmetBoel De PaepeRudy Van CosterMarc BrackeCarlos De Wagter

A1 Journal Article in RADIATION RESEARCH

2012

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome

C VilainC RensA AebyD BalériauxP Van BogaertG RemicheJoél SmetRudy Van CosterM AbramowiczI Pirson

A1 Journal Article in CLINICAL GENETICS

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

Forearm deoxygenation measured by Nirs during a new handgrip exercise protocol in patients with mitochondrial myopathy

Bert CelieJan BooneJoél SmetJan De BleeckerRudy Van CosterJan Bourgois

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

Mitochondrial cardiotoxicity of a prototype HCV NS3-protease inhibitor is characterized by a specific electrocardiographic signature in mice

THOMAS VANWOLLEGHEMEva Van BraeckelJoél SmetBi-Sheng LiuPhilip MeulemanHarry L JanssenTania RoskamsRudy Van CosterRita De VosGeert Leroux-Roels

Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms

Silke MusscheBoel De PaepeJoél SmetKatrien DevreeseWilly LissensVedrana Milic RasicMatthew MurnaneBart DevreeseRudy Van Coster

A1 Journal Article in MUSCLE & NERVE

Proteomic analysis of cultured skin fibroblasts from UCMD patients reveals the involvement of two new cellular pathways

N DeconinckSilke MusscheBoel De PaepeC GartiouxV AllamandP RichardJoél SmetBart DevreeseRudy Van Coster

2011

Analysis of the giant axonal neuropathy fibroblasts proteome

Rudy Van CosterSilke MusscheBoel De PaepeJoél SmetWilly LissensV RasicBart Devreese

ATP synthase deficiency: a diagnostic strategy for not such an uncommon cause of OXPHOS dysfunction

Rudy Van CosterJoél SmetBoel De PaepeSara SenecaLinda De MeirleirLuc RegalA EvangeliouWilly Lissens

Complex III staining in blue native polyacrylamide gels

Joél SmetBoel De PaepeSara SenecaWilly LissensHeike KotarskyLinda De MeirleirVineta FellmanRudy Van Coster

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

JC-1-based fluorescence to evaluate oxidative phosphorylation defects generates both qualitative and quantitative information

Boel De PaepeJoél SmetSara SenecaWilly LissensLinda De MeirleirMado VandewoestyneDieter DeforceSilke MusscheEmmanuel ScalaisRudy Van Coster

2010

Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia

Francois H van der WesthuizenJoél SmetOksana LevanetsMadelein Meissner-RoloffRoan LouwRudy Van CosterIzelle Smuts

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation

Heike KotarskyRiitta KarikoskiMatthias MorgelinSanna MarjavaaraPetra BergmanDe-Liang ZhangJoél SmetRudy Van CosterVineta Fellman

A1 Journal Article in MITOCHONDRION

Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model

Ann MeulemansSara SenecaThomas PribylJoél SmetValerie AlderweirldtAnouk WaeytensWilly LissensRudy Van CosterLinda De MeirleirJean-Paul di Rago et al.

A1 Journal Article in JOURNAL OF BIOLOGICAL CHEMISTRY

Deleterious mutations in RRM2B result in severe reduction of mtDNA content in skeletal muscle

Rudy Van CosterJoél SmetBoel De PaepeWilly LissensLinda De MeirleirSara Seneca

Deleterious mutations in RRM2B, a gene responsible for maintenance of mtDNA, result in severe reduction of mtDNA content in skeletal muscle

Rudy Van CosterJoél SmetBoel De PaepeWilly LissensLinda De MeirleirSara Seneca

Mutations in TMEM70 causes severe encephalocardiomyopathy as well as mild encephalopathy

Rudy Van CosterJoél SmetWilly LissensBoel De PaepeSara SenecaLinda De MeirleirMartha SpiliotiFitsioris XenophonAthanasios Evangeliou

Mutations in TMEM70, a gene coding for an assembly factor of complex V, can cause a severe encephalocardiomyopathy in the neonatal period as wel as mild non-progressive encephalopathy in adolescence

Rudy Van CosterJoél SmetWilly LissensBoel De PaepeSara SenecaLinda De MeirleirMartha SpiliotiFitsioris XenophonAthanasios Evangeliou

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

2009

Abdominal pain and vomiting as first sign of mitochondrial disease

Stephanie Van BiervlietPATRICK VERLOOSaskia Vande VeldeMyriam Van WinckelJoél SmetS SenecaL De MeirleirRudy Van Coster

A1 Journal Article in ACTA GASTRO-ENTEROLOGICA BELGICA

ACUTE RHABDOMYOLYSIS IN YOUNG CHILDREN DUE TO MUTATIONS IN THE LPIN1 GENE

LJ De MeirleirPATRICK VERLOORudy Van CosterJoél SmetB WuytsL HuberP Delonlay

Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects

Boel De PaepeJoél SmetM LammensS SenecaJJ MartinJan De BleeckerL De MeirleirW LissensRudy Van Coster

A1 Journal Article in JOURNAL OF CLINICAL PATHOLOGY

Lactic Acidosis in a Newborn With Adrenal Calcifications

Aleksandra ZecicJoél SmetClaudine De PraeterPiet VanhaesebrouckCarlo ViscomiCaroline Van den BroeckeBoel De PaepePeter LohseJean-Jacques MartinJoshua Jackson et al.

A1 Journal Article in PEDIATRIC RESEARCH

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

Rudy Van CosterArnaud VanlanderJoél SmetHelene VerhelstPATRICK VERLOOANNIK DE JAEGER

MITOCHONDRIAL ABNORMALITIES IN A NEWBORN WITH LACTIC ACIDOSIS AND ADRENAL CALCIFICATIONS

Rudy Van CosterJoél SmetPATRICK VERLOOPiet VanhaesebrouckC ViscomiCaroline Van den BroeckeBoel De PaepeL De MeirleirM ZevianiS Seneca et al.

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

Frank RoelsPATRICK VERLOOFrançois EyskensBaudouin FrançoisSara SenecaBoel De PaepeJean-Jacques MartinVALERIE MEERSSCHAUTMarleen PraetEmmanuel Scalais et al.

A2 Journal Article in BMC Clinical Pathology

ORGANIC ACIDURIA AND LATE ONSET OPTIC ATROPHY

LJ De MeirleirP GoyensPATRICK VERLOOJoél SmetM VandriesscheK CorthoutsBart LeroyRudy Van Coster

Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function

VA MoraisP VerstrekenA RoethigJoél SmetA SnellinxM VanbrabantD HaddadC FrezzaW MandemakersD Vogt-Weisenhorn et al.

A1 Journal Article in EMBO MOLECULAR MEDICINE

PATHOPHYSIOLOGY OF PROPOFOL INFUSION SYNDROME (PRIS)

Arnaud VanlanderANNIK DE JAEGERJoél SmetRudy Van Coster

Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to the m.14487T>C mutation in ND6

Sara SenecaBart DermautPatrick SantensLina DomKatrien SmetsLuc CeulemansJoél SmetBoel De PaepeSimon TousseynSarah Weckhuysen et al.

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA

Joél SmetSara SenecaBoel De PaepeAnn MeulemansHelene VerhelstJuliaan LeroyLinda De MeirleirWilly LissensRudy Van Coster

A1 Journal Article in ELECTROPHORESIS

2008

Immunostaining technniques in patients with mtDNA depletion

Rudy Van CosterBoel De PaepeJoél SmetS SENECAW LISSENSL DE MEIRLEIRFrank Roels

Mitochondrial proliferation and abnormalities of the inner mitochondrial membrane in peroxisome deficient hepatocytes

A. PeetersR. DirkxK. MartensJoél SmetRudy Van CosterP. Van VeldhovenM. Baes

N-acetylamino aciduria: A benign biochemical finding!

J. CalvinR.A. WeversU. EngelkeW. LissensJ. PerrierT. GiardinaJoél SmetS. HoggL. AbulhoulV. Puthi et al.

Role of BN-page in the diagnosis of mitochondrial DNA depletion

Rudy Van CosterJoél SmetBoel De PaepeS SENECAW LISSENSL DE MEIRLEIR

S100B Expression in forensic brain trauma fatalities: a valuable tool?

Els De LetterMarc EspeelFrederik BerlengeeChristophe AmpeJoél SmetRudy Van CosterMichel Piette

2007

A new family with the mitochondrial tRNAGLU gene mutation m.14709T > C presenting with hydrops fetalis

Ann MeulemansSara SenecaJoél SmetBoel De PaepeWilly LissensRudy Van CosterAnne DebeerLinda De MeirleirJaak Jaeken

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

ATP synthase subcomplexes are the hallmark of a defective intramitochondrial protein translation

Rudy Van CosterJoél SmetBoel De PaepeS SENECAA MEULEMANSW LISSENSL DE MEIRLEIR

Detection of complex III deficient patients using a novel activity staining method in the BN-page gel

Rudy Van CosterJoél SmetBoel De PaepeS SenecaA MeulemansW LissensH KotarskyL De MeirleirV Fellman

Ethylmalonic encephalopathy: Clinical and biochemical observations

DI ZAFEIRIOUP AUGOUSTIDES-SAVVOPOULOUD HAASJoél SmetP TRIANTAFYLOUE VARGIAMIM TARNIOLAKIN GORNBAKISRudy Van CosterAC SEWELL et al.

A1 Journal Article in NEUROPEDIATRICS

Immunohistochemical studies of oxidative phosphorylation in skeletal muscle of patients with mitochondrial tRNA gene mutations

Boel De PaepeJoél SmetMartin LammensS SENECAJ MARTINJan De BleeckerRudy Van Coster

Infantile presentation of the mitochondrial A8344G mutation.

E SCALAISC NUTTINS SENECAJoél SmetBoel De PaepeJ MARTINR STEVENSF PIERARTO BATTISTIW LISSENS et al.

A2 Journal Article in European journal of neurology

Mitochondrial aspartyl-tRNA synthetase deficiency causes "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation

M VAN DER KNAAPJ PRONKRudy Van CosterC FLORENTZJoél SmetM SISSLERT VAN DER KLOKG SCHEPER

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

GC SCHEPERT VAN DER KLOKRJ VAN ANDELCGM VAN BERKELM SISSLERJoél SmetTI MURAVINASV SERKOVG UZIELM BUGIANI et al.

A1 Journal Article in NATURE GENETICS

The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders

A MEULEMANSE GERLOS SENECAW LISSENSJoél SmetRudy Van CosterL DE MEIRLEIR

A1 Journal Article in ACTA NEUROLOGICA BELGICA

The evaluation of complex III activity using a novel in-gel activity staining method

Joél SmetBoel De PaepeS SARAA MEULEMANSW LISSENSH KOTARSKYL DE MEIRLEIRV FELLMANRudy Van Coster

The presence of complex V subcomplexes in patients with defective intramitochondrial protein translation

Rudy Van CosterJoél SmetBoel De PaepeS SENECAA MEULEMANSW LISSENSL DE MEIRLEIR

The presence of complex V subcomplexes in patients with defective intramitochondrial protein translation.

Rudy Van CosterJoél SmetBoel De PaepeS SENECAA MEULEMANSW LISSENSL DE MEIRLEIR

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy

A MEULEMANSBoel De PaepeJan De BleeckerJoél SmetW LISSENSRudy Van CosterL DE MEIRLEIRS SENECA

A1 Journal Article in ARCHIVES OF NEUROLOGY

Visualizing oxidative phosphorylation defects in skeletal muscle of patients with mitochondrial tRNA gene mutations using immunohistochemistry

Rudy Van CosterBoel De PaepeJoél SmetMartin LammensJ MARTINJan De BleeckerS SENECAW LISSENSL DE MEIRLEIR

2006

A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure

Ann MeulemansSara SenecaLieven LagaeWilly LissensBoel De PaepeJoél SmetRudy Van CosterLinda De Meirleir

A1 Journal Article in ARCHIVES OF NEUROLOGY

A novel mitochondrial tRNA Asn mutation causing multi-organ failure

A MeulemansS SenecaL LagaeW LissensBoel De PaepeJoél SmetRudy Van CosterL De Meirleir

A systems biology strategy reveals biological pathways and plasma biomarker candidates for potentially toxic statin-induced changes in muscle

Reijo LaaksonenMikko KatajamaaHannu PaivaMarko Sysi-AhoLilli SaarinenPaivi JunniDieter LutjohannJoél SmetRudy Van CosterTuulikki Seppanen-Laakso et al.

A1 Journal Article in PLOS ONE

Aminoacylase I deficiency: a new inborn error of metabolism located in the protein degradation pathway of N-acetylated proeteins

Rudy Van CosterE GERLOJ PERRIERJoél SmetClaudine De PraeterL DE MEIRLEIRT GIARDINAW LISSENS

Butylated hydroxyanisole is more than a reactive oxygen species scavenger

Nele FestjensMichaël KalaiJoél SmetAnn MeeusRudy Van CosterXavier SaelensPeter Vandenabeele

A1 Journal Article in CELL DEATH AND DIFFERENTIATION

Complex V subcomplexes detected by BN PAGE are a sign of a defective intramitochondrial protein translation

Rudy Van CosterJoél SmetBoel De PaepeS SenecaA MeulemansW LissensL De Meirleir

Complex V subcomplexes suggestive of a defective intramitochondrial protein translation

Rudy Van CosterJoél SmetBoel De PaepeS SenecaA MeulemansW LissensL De Meirleir

Complex V subcomplexes suggestive of a defective intramitochondrial protein translation.

Rudy Van CosterJoél SmetBoel De PaepeS SENECAA MEULEMANSW LISSENSL DE MEIRLEIR

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

W SPERLP JESINAJ ZEMANJA MAYRL DEMEIRLEIRRudy Van CosterA PICKOVAH HANSIKOVAH HOUST'KOVAZ KREJCIK et al.

A1 Journal Article in NEUROMUSCULAR DISORDERS

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects

Boel De PaepeJoél SmetJuliaan LeroyS SenecaEDITH GEORGEDirk MatthysL Van MaldergemE ScalaisW LissensL De Meirleir et al.

A1 Journal Article in PEDIATRIC RESEARCH

Diagnostics in mitochondrial diseases: the need of collaboration between clinician and research laboratories.

Rudy Van CosterS SENECAJoél SmetW LISSENSJ JAEKENM NASSOGNEA MEULEMANSL DE MEIRLEIR

Linezolid-induced inhibition of mitochondrial protein synthesis

An De VrieseRudy Van CosterJoél SmetS SENECAA LOVERINGLL VAN HAUTELJ VANOPDENBOSCHJJ MARTINC CEUTERICK-DE GROOTES VANDECASTEELE et al.

A1 Journal Article in CLINICAL INFECTIOUS DISEASES

Linezolid-induced inhibition of mitochondrial protein synthesis

Rudy Van CosterJoél SmetSara SenecaAndrew LoveringLindsey Van HauteLudo VanopdenboschJean-Jacques MartinChantal Ceuterick-de GrooteStefaan VandecasteeleJohan Boelaert et al.

Mitochondrial mosaics in the liver of patients with Pearson and Alpers-Huttenlocher syndromes

Frank RoelsPATRICK VERLOOS SENECAVALERIE MEERSSCHAUTF EYSKENSJoél SmetJJ MARTINMarleen PraetRudy Van Coster

2005

A mitochondrial tRNA Aspartate mutation causing isolated mitochondrial myopathy

S SENECAN GOEMANSRudy Van CosterP GIVRONT REYBROUCKR SCIOTA MEULEMANSJoél SmetJLK VAN HOVE

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Aminoacylase I deficiency: A novel inborn error of metabolism

Rudy Van CosterEA GERLOTG GIARDINAUF ENGELKEJoél SmetClaudine De PraeterVALERIE MEERSSCHAUTLJ DE MEIRLEIRSH SENECABart Devreese et al.

A1 Journal Article in BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

An infant with large amounts of several N-acetylated amino acids in the urine has aminoacylase 1 deficiency.

Rudy Van CosterW LISSENST GIARDINAU ENGELKEJoél SmetClaudine De PraeterS HERGAR WEVERSE GERLO

Denaturating high performance liquid chromatography, a rapid mutation screening technique for the entire mitochondrial genome.

A MEULEMANSS SENECAW LISSENSRudy Van CosterJ JAEKENJoél SmetBoel De PaepeL DE MEIRLEIR

Diagnostics in mitochondrial diseases: The need of collaboration between clinician and research laboratorie.

L DE MEIRLEIRS SENECAJoél SmetW LISSENSJ JAEKENM NASSOGNEA MEULEMANSRudy Van Coster

High dose statins and skeletal muscle metabolism in man: A randomized controlled trial.

Rudy Van CosterJoél SmetBoel De PaepeH PAIVAK THELENK MATTILAJ LAAKSOT LEHTIMAKIK VON BERGMANND LUTJOHANN et al.

High dose statins and skeletal muscle metabolism in man: A randomized controlled trial.

Rudy Van CosterJoél SmetBoel De PaepeH PAIVAK THELENK MATTILAJ LAAKSOT LEHTIMAKIK VON BERGMANND LUTJOHANN et al.

High-dose statins and skeletal muscle metabolism in humans: A randomized, controlled trial

H PAIVAKM THELENRudy Van CosterJoél SmetBoel De PaepeKM MATTILAJ LAAKSOT LEHTIMAKIK VON BERGMANND LUTJOHANN et al.

A1 Journal Article in CLINICAL PHARMACOLOGY & THERAPEUTICS

Immunocytochemical staining of cultured fibroblasts is a valuable first line screening test for oxidative phosphorylation defects.

Boel De PaepeJoél SmetJuliaan LeroyS SENECAEDITH GEORGEDirk MatthysL VAN MALDERGEME SCALAISW LISSENSL DE MEIRLEIR et al.

Immunocytochemiscal staining of cultured fibroblasts is available first line screening test for oxidative phosphorylation.

Boel De PaepeJoél SmetJuliaan LeroyS SENECAEDITH GEORGEDirk MatthysL VAN MALDERGEME SCALAISW LISSENSL DE MEIRLEIR et al.

is livertransplantation indicated in metabolic disorders with neurological involvement? two case reports

PATRICK VERLOOL DE MEIRLEIRRudy Van CosterS SENECAJoél SmetStephanie Van BiervlietMyriam Van Winckel

Isolated defects of mitochondrial ATP synthase: overview of 15 cases.

W SPERLP JESINAJ ZEMANJ MAYRRudy Van CosterJoél SmetJ HOUSTEK

Nondenaturing polyacrylamide gel electrophoresis as a method for studying protein interactions: applications in the analysis of mitochondrial OXPHOS complexes

Joél SmetBart DevreeseJozef Van BeeumenRudy Van Coster

Bookchapter in Cell biology : a laboratory handbook

2004

Analysis of the mitochondrial encoded subunits of complex 1 in 20 patients with a complex 1 deficiency

A MEULEMANSW LISSENSRudy Van CosterL DE MEIRLEIRJoél SmetMC NASSOGNEI LIEBAERSS SENECA

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Auto-immune disorders of cerebral white matter in children

Helene VerhelstJoél SmetGoedele DhondtM SENEPARTRudy Van Coster

A1 Journal Article in ACTA NEUROLOGICA BELGICA

No evidence for involvement of SDHD in neuroblastoma pathogenesis

Katleen De PreterJo VandesompeleJasmien HoebeeckCaroline VandenbroeckeJoél SmetAnnick NuytsGenevieve LaureysValérie CombaretNadine Van RoyFrank Roels et al.

A1 Journal Article in BMC CANCER

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

L DE MEIRLEIRS SENECAW LISSENSI DE CLERCQF EYSKENSE GERLOJoél SmetRudy Van Coster

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

2003

Automated nanoflow Liquid chromatography/tandem mass spectrometric identification of liver mitochondrial proteins

Bart DevreeseFrank VanrobaeysElke LecocqJoél SmetRudy Van CosterJozef Van Beeumen

Bookchapter in Handbook of Proteomic methods

Combination of proteomic techniques as powerful tool in the search for the underlying defect in OXPROS complex deficiencies

Joél SmetBoel De PaepeBart DevreeseJJ MARTINL DE MEIRLEIRW LISSENSS SENECARudy Van Coster

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II

Rudy Van CosterS SenecaJoél SmetRIA VAN HECKEE GerloBart DevreeseJozef Van BeeumenJG LeroyL De MeirleirW Lissens

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2002

Mass spectrometric identification of mitochondrial oxidative phosphorylation subunits separated by two-dimensional blue-native polyacrylamide gel electrophoresis

Bart DevreeseFrank VanrobaeysJoél SmetJozef Van BeeumenRudy Van Coster

A1 Journal Article in ELECTROPHORESIS

2001

Blue native polyacrylamide gel electrophoresis: A powerful tool in diagnosis of oxidative phosphorylation defects

Rudy Van CosterJoél SmetEDITH GEORGEL DE MEIRLEIRS SENECAJ VAN HOVEG SEBIREHelene VerhelstJan De BleeckerB VAN VLEM et al.

A1 Journal Article in PEDIATRIC RESEARCH