Research Explorer

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Researcher

Rudy Van Coster

Awards & Distinctions

325 Results

2024

Advancing early detection of autism spectrum disorder : neurophysiological and behavioral perspectives

Thijs Van LierdeHerbert RoeyersRoeljan WiersemaRudy Van Coster

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

Mammalian target of rapamycin inhibition enhances delivery and activity of antisense oligonucleotides in uveal melanoma cells

Shanna DewaeleLouis DelhayeBoel De PaepeBram BogaertRamiro MartinezJasper AnckaertNurten YigitJustine NuytensRudy Van CosterSven Eyckerman et al.

A1 Journal Article in NUCLEIC ACID THERAPEUTICS

Neonatal lactic acidosis explained by LARS2 defect

Boel De PaepeJoél SmetRobert KopajtichHolger ProkischRudy Van CosterArnaud Vanlander

A1 Journal Article in PEDIATRIC RESEARCH

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 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

Expanded phenotyping by microscopic imaging

Frank RoelsPATRICK VERLOOBoel De PaepeJan De BleeckerRudy Van Coster

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 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.

Urine lactate concentration as a non-invasive screener for metabolic abnormalities : findings in children with autism spectrum disorder and regression

Sofie BoterbergElise VantroysBoel De PaepeRudy Van CosterHerbert Roeyers

A1 Journal Article in PLOS ONE

2021

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Sarah DuerinckxJulie DésirCamille PerazzoloCindy BadoerValérie JacqueminJulie SobletIsabelle MaystadtYusuf TuncaBettina BlaumeiserBerten Ceulemans et al.

A1 Journal Article in MOLECULAR GENETICS & GENOMIC MEDICINE

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Candy KumpsErika D'haenensSarah VergultJasmine LeusRudy Van CosterAnna JansenKoen DevriendtAnna OostraOlivier Vanakker

A1 Journal Article in CLINICAL GENETICS

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

Developmental regression and mitochondrial dysfunction in children with autism spectrum disorder

Sofie BoterbergHerbert RoeyersRudy Van Coster

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

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

Miriam BauwensStephan StorchNicole WeisschuhChantal Ceuterick-de GrooteRiet De RyckeBrecht GuillemynSarah De JaegereFrauke CoppietersRudy Van CosterBart Leroy et al.

A1 Journal Article in CLINICAL GENETICS

Germline nuclear transfer in mice may rescue poor embryo development associated with advanced maternal age and early embryo arrest

Maoxing TangMina PopovicPanagiotis StamatiadisMargot Van der JeughtRudy Van CosterDieter DeforcePetra De SutterPaul CouckeBjörn MentenDominic Stoop et al.

A1 Journal Article in HUMAN REPRODUCTION

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

mTor inhibitor GDC-0349 improves ASO induced SAMMSON knock down resulting in enhanced anti-tumor efficacy in uveal melanoma

Shanna DewaeleBoel De PaepeLouis DelhayeEric de Bony de LavergneJilke De WildeKatrien VanderheydenJasper AnckaertNurten YigitEveline Vanden EyndeFariba Nemati et al.

mTor inhibitor GDC-0349 improves ASO induced SAMMSON knock down resulting in enhanced anti-tumor efficacy in uveal melanoma

Shanna DewaeleBoel De PaepeLouis DelhayeEric de Bony de LavergneJilke De WildeKatrien VanderheydenJasper AnckaertNurten YigitEveline Vanden EyndeFariba Nemati et al.

2019

A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Simon TavernierV AthanasopoulosPATRICK VERLOOG BehrensJens StaalDelfien BogaertLeslie NaesensMarieke De BruyneSofie Van GassenEef Parthoens et al.

A1 Journal Article in NATURE COMMUNICATIONS

Characteristics, early development and outcome of parent-reported regression in autism spectrum disorder

Sofie BoterbergRudy Van CosterHerbert Roeyers

A1 Journal Article in JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS

Comparative analysis of different nuclear transfer techniques to prevent the transmission of mitochondrial DNA variants

Maoxing TangRamesh Reddy GuggillaYannick GansemansMargot Van der JeughtAnnekatrien BoelMina PopovicPanagiotis StamatiadisMinerva Ferrer BuitragoVanessa ThysRudy Van Coster et al.

A1 Journal Article in MOLECULAR HUMAN REPRODUCTION

Comparative analysis of different nuclear transfer techniques to prevent the transmission of mitochondrial DNA variants

Maoxing TangR ReddyYannick GansemansMargot Van der JeughtAnnekatrien BoelPanagiotis StamatiadisRudy Van CosterDieter DeforceFilip Van NieuwerburghPetra De Sutter et al.

Mitochondria lost in translation : mitochondrial DNA translation defects caused by nuclear gene deficiencies

Elise VantroysRudy Van CosterHerbert Roeyers

Neuroinflammatory disorders in childhood : focus on specific clinical entities, genetic susceptibility and immunomodulatory treatment

Helene VerhelstRudy Van Coster

Recurrent arterial ischemic stroke with good response to mycophenolate mofetil

Benedikte Van DriesschePATRICK VERLOONele HerregodsVeerle MondelaersJo DehoorneRudy Van CosterHelene Verhelst

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Research activity and capability in the European reference network MetabERN

Jean-Michel HeardCinzia BellettatoCorine van LingenMaurizio Scarpathe MetabERN collaboration groupRudy Van Coster

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

The use of pronuclear transfer to overcome infertility disorders in mice

Björn HeindryckxAnnekatrien BoelPanagiotis StamatiadisMargot Van der JeughtRamesh Reddy GuggillaDieter DeforceRudy Van CosterPetra De Sutter

Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma

Shanna DewaeleKatrien VanderheydenBoel De PaepeLouis DelhayeFariba NematiDidier DecaudinSven EyckermanRudy Van CosterJo VandesompelePieter Mestdagh

Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma

Shanna DewaeleKatrien VanderheydenBoel De PaepeLouis DelhayeFariba NematiDidier DecaudinSven EyckermanRudy Van CosterJo VandesompelePieter Mestdagh

Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma

Shanna DewaeleKatrien VanderheydenBoel De PaepeLouis DelhayeFariba NematiDidier DecaudinSven EyckermanRudy Van CosterJo VandesompelePieter Mestdagh

2018

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

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

Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3

A SchänzerS RuppS GräfD ZengelerC JuxH AkintürkL GulatzN MazhariT AckerRudy Van Coster et al.

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

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

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

Natural history of vanishing white matter

Eline MC HamiltonHannemieke DW van der LeiGerre VermeulenJan AM GerverCharles M LourençoSakkubai NaiduHanna MierzewskaReinoud JBJ GemkeHenrica CW de VetBernard MJ Uitdehaag et al.

A1 Journal Article in ANNALS OF NEUROLOGY

Near-infrared spectroscopy screening to allow detection of pathogenic mitochondrial DNA variants in individuals with unexplained abnormal fatigue : a preliminary study

Bert CelieAn MarimanJan BooneLIESBETH DELESIEEls TobbackSara SenecaBoel De PaepeDirk VogelaersRudy Van CosterJan Bourgois

A1 Journal Article in APPLIED SPECTROSCOPY

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

Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma

Shanna DewaeleKatrien VanderheydenBoel De PaepeFariba NematiSergio Roman RomanRudy Van CosterJo VandesompelePieter Mestdagh

Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma

Shanna DewaeleKatrien VanderheydenBoel De PaepeFariba NematiSergio Roman RomanRudy Van CosterJo VandesompelePieter Mestdagh

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

A critical assessment of the therapeutic potential of resveratrol supplements for treating mitochondrial disorders

Boel De PaepeRudy Van Coster

A1 Journal Article in NUTRIENTS

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus WolffKatrine M JohannesenUlrike BS HedrichSilvia MasnadaGuido RubboliElena GardellaGaetan LescaDorothée VilleMathieu MilhLaurent Villard et al.

A1 Journal Article in BRAIN

Multiple sclerosis in Belgian children : a multicentre retrospective study

Helene VerhelstLiesbeth De WaeleNicolas DeconinckBerten CeulemansBarbara WillekensRudy Van Coster

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism

Lionel Van MaldergemArnaud BesseBoel De PaepeEmma L BlakelyVivek AppaduraiMargaret M HumbleJuliette PiardKate CraigLangping HePierre Hella et al.

A1 Journal Article in ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma

Shanna DewaeleKatrien VanderheydenBoel De PaepeFariba NematiSergio Roman RomanRudy Van CosterJo VandesompelePieter Mestdagh

2016

ALG1-CDG: clinical and molecular characterization of 39 unreported patients

Bobby G NgSergey A ShiryaevDaisy RymenErik A EklundKimiyo RaymondMartin KircherJose E AbdenurFusun AlehanAlina T MidroMichael J Bamshad et al.

A1 Journal Article in HUMAN MUTATION

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

Database crossing allows better understanding of neuromuscular disorders epidemiology: the Belgian example

C BleyenheuftP Van DammeN GoemansJan De BleeckerRudy Van CosterP De JongheD BeysenP Van den BerghF ChristiaensA Maertens de Noordhout et al.

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: report on nine patients

Joseph P DewulfCatherine BarreaMarie-Françoise VincentCorinne De LaetRudy Van CosterSara SenecaSandrine MarieMarie-Cécile Nassogne

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy

Miriam BauwensNicole WeisschuhChantal Ceuterick-de GroteRudy Van CosterBart LeroyElfride De Baere

Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy

Miriam BauwensNicole WeisschuhChantal Ceuterick-de GroteRudy Van CosterBart LeroyElfride De Baere

Functional characterization of novel deleterious MFSD8 mutations found by whole exome sequencing in early-onset isolated maculopathy

Miriam BauwensNicole WeisschuhChantal Ceuterick-de GroteRudy Van CosterBart LeroyElfride De Baere

How robust is ACTIVLIM for the follow-up of activity limitations in patients with neuromuscular diseases?

Charles Sèbiyo BatchoPeter YK Van den BerghPhilip Van DammeAnna J RoyJean-Louis ThonnardMassimo Pentaon behalf of the BNMDR Scientific CommitteeJan De BleeckerRudy Van Coster

A1 Journal Article in NEUROMUSCULAR DISORDERS

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

STXBP1 encephalopathy : a neurodevelopmental disorder including epilepsy

Hannah StambergerMarina NikanorovaMarjolein H WillemsenPatrizia AccorsiMarco AngrimanHartmut BaierIra Benkel-HerrenbrueckValérie BenoitMauro BudettaAlmuth Caliebe et al.

A1 Journal Article in NEUROLOGY

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

Cellular heterogeneity in the level of mtDNA heteroplasmy in mouse embryonic stem cells

Jitesh NeupaneSabitri GhimireMado VandewoestyneYuechao LuJan GerrisRudy Van CosterTom DerooDieter DeforceStijn VansteelandtPetra De Sutter et al.

A1 Journal Article in CELL REPORTS

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

YJ CrowDS ChaseJL SchmidtM SzynkiewiczGMA ForteHL GornallA OojageerB AndersonA PizzinoG Helman et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR)

Anna J RoyPeter Van den BerghPhilip Van DammeKris DoggenViviane Van Casterenthe BNMDR Scientific CommitteeJan De BleeckerRudy Van Coster

A1 Journal Article in ACTA NEUROLOGICA BELGICA

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

Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin

Bethany L Johnson-KernerFaizzan S AhmadAlejandro Garcia DiazJohn Palmer GreeneSteven J GrayRichard Jude SamulskiWendy K ChungRudy Van CosterPaul MaertensScott A Noggle et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

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

Screening for mitochondrial dysfunction in chronic fatigue syndrome using Near Infrared Spectroscopy: a preliminary study

Els TobbackBert CelieAn MarimanJan BooneLIESBETH DELESIETine De BackerDirk VogelaersRudy Van CosterJan Bourgois

Sleep research in pediatrics : a key to new pathophyisological insights

Karlien DhondtRudy Van CosterAnn Raes

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

Ultrastructural mitochondrial alterations in equine myopathies of unknown origin

Karolien Van DriesscheRichard DucatelleKoen ChiersRudy Van CosterJH van der Kolk

A1 Journal Article in VETERINARY QUARTERLY

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

A systematic analysis of the suitability of preimplantation genetic diagnosis for mitochondrial diseases in a heteroplasmic mitochondrial mouse model

Jitesh NeupaneMado VandewoestyneBjörn HeindryckxSabitri GhimireYuechao LuChen QianSylvie LiermanRudy Van CosterJan GerrisTom Deroo et al.

A1 Journal Article in HUMAN REPRODUCTION

Assessment of cellular heterogeneity in the level of mitochondrial DNA heteroplasmy in mouse embryonic stem cells

Jitesh NeupaneBjörn HeindryckxMado VandewoestyneSabitri GhimireYuechao LuRudy Van CosterDieter DeforceTom DerooPetra De Sutter

Assessment of nuclear transfer techniques to prevent the transmission of heritable mitochondrial disorders without compromising embryonic development competence in mice

Jitesh NeupaneMado VandewoestyneSabitri GhimireYuechao LuChen QianRudy Van CosterJan GerrisTom DerooDieter DeforcePetra De Sutter et al.

A1 Journal Article in MITOCHONDRION

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

Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication

Sabine VerbeekOlivier VanakkerRudy MercelisAF LipkaFilomeen HaerynckMelissa DullaersPATRICK VERLOORudy Van CosterHelene Verhelst

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Mutation-free baby born from a mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome carrier after blastocyst trophectoderm preimplantation genetic diagnosis

Björn HeindryckxJitesh NeupaneMado VandewoestyneCHRISTODOULOS CHRISTODOULOUYens JackersJan GerrisEtienne Van den AbbeelRudy Van CosterDieter DeforcePetra De Sutter

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 de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

Cas SimonsNicole I WolfNathan McNeilLjubica CaldovicJoseph M DevaneyAsako TakanohashiJoanna CrawfordKelin RuSean M GrimmondDavid Miller et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis

Filomeen HaerynckPatrick StordeurJohan Vande WalleRudy Van CosterMaria Bordon Cueto De BraemFrans De BaetsPetra SchelstraeteCédric JavauxMarie-Rose BouvryVéronique Fremeaux-Bacchi et al.

A1 Journal Article in JOURNAL OF CLINICAL IMMUNOLOGY

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

Expanding the spectrum of MERS type 2 lesions, a particular form of encephalitis

ANNELEEN NOTEBAERTJef WillemsLine CouckeRudy Van CosterHelene Verhelst

A1 Journal Article in PEDIATRIC NEUROLOGY

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

Sarah WeckhuysenVanja IvanovicRik HendrickxRudy Van CosterHelle HjalgrimRikke S MøllerSabine GrønborgAn-Sofie SchoonjansBerten CeulemansSinead B Heavin et al.

A1 Journal Article in 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

Hypocretin-1 deficiency in a girl with ROHHAD syndrome

Karlien DhondtPATRICK VERLOOHelene VerhelstRudy Van CosterSebastiaan Overeem

A1 Journal Article in PEDIATRICS

Morphological spectrum and clinical features of myopathies with tubular aggregates

Fabian FunkChantal Ceuterick-de GrooteJean-Jacques MartinAxel MeinhardtAna TaratutoJan De BleeckerRudy Van CosterBoel De PaepeUlrike ScharaMatthias Vorgerd et al.

A1 Journal Article in HISTOLOGY AND HISTOPATHOLOGY

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.

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

Quantitative proteomics analysis in cultured skin fibroblasts from patients with rare genetic disorders

Silke MusscheRudy Van CosterBart Devreese

Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy

Silke MusscheBart DevreeseSahana Nagabhushan KalburgiLavanya BachaboinaJonathan C FoxHung-Jui ShihRudy Van CosterR Jude SamulskiSteven J Gray

A1 Journal Article in HUMAN GENE THERAPY

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.

Ultrastructural mitochondrial alterations in equine myopathies of unknown origin

Karolien Van DriesscheRichard DucatelleKoen ChiersRudy Van CosterH van der Kolk

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

Acetazolamide for severe apnea in Pitt-Hopkins syndrome

Stijn L VerhulstJ De DooyJ RametN BockaertRudy Van CosterB CeulemansW De Backer

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cyclic vomiting syndrome: case report and short review of the literature

ANNELIEN VAN DRIESSCHEERICA SERMIJNKoen PaemeleireRudy Van CosterDirk Vogelaers

A1 Journal Article in ACTA CLINICA BELGICA

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

Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients

Joy IrobiAnne HolmgrenVicky De WinterBob AsselberghJan GettemansDirk AdriaensenChantal Ceuterick-de GrooteRudy Van CosterPeter De JongheVincent Timmerman

A1 Journal Article in NEUROMUSCULAR DISORDERS

Polymerase gamma deficiency (POLG): clinical course in a child with two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy

Emmanuel ScalaisBaudouin FrançoisPatrick SchlesserRene StevensChristian NuttinJean-Jacques MartinRudy Van CosterSara SenecaFrank RoelsGert Van Goethem et al.

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Poor correlation between polar bodies and blastomere mutation load in a patient with m.3243A>G tRNALeu(UUR) point mutation

Mado VandewoestyneBjörn HeindryckxStefanie De GheselleTrees LepezJitesh NeupaneJan GerrisRudy Van CosterPetra De SutterDieter Deforce

A1 Journal Article in MITOCHONDRION

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

Reliability of near infrared spectroscopy (NIRS) for measuring forearm oxygenation during incremental handgrip exercise

Bert CelieJan BooneRudy Van CosterJan Bourgois

A1 Journal Article in EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY

X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation

Marc D'HoogheDominik SelleslagGeert MortierRudy Van CosterPieter VermeerschJohan BillietSoumeya Bekri

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

2011

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

Analysis of the giant axonal neuropathy fibroblasts proteome

Rudy Van CosterSilke MusscheBoel De PaepeJoél SmetWilly LissensV RasicBart Devreese

Anti-NMDA-receptor encephalitis in a 3 year old patient with chromosome 6p21.32 microdeletion including the HLA cluster

Helene VerhelstPATRICK VERLOOKarlien DhondtBoel De PaepeBjörn MentenJosep DalmauRudy Van Coster

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Genomic microarrays: challenges and opportunities: five years experience in a diagnostic setting

Sarah VergultKaren BuysseBARBARA DELLE CHIAIESandra JanssensOlivier VanakkerRudy Van CosterAnne De PaepeFranki SpelemanBjörn Menten

Hashimoto encephalopathy and antibodies against dimethylargininase-1: a rare cause of cognitive decline in a pediatric Down's syndrome patient

Helene VerhelstPATRICK VERLOOBoel De PaepeBeatrice GiniBruno BonettiRudy Van Coster

A1 Journal Article in CLINICAL NEUROLOGY AND NEUROSURGERY

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

Palatal insufficiency as isolated sign of GQ1b antibody syndrome

Helene VerhelstMICHAELA MAESKarel DeblaereRudy Van Coster

A1 Journal Article in PEDIATRIC NEUROLOGY

Polar body mutation load analysis in a patient with A3243G tRNALeu(UUR) point mutation

Mado VandewoestyneBjörn HeindryckxTrees LepezRudy Van CosterJan GerrisPetra De SutterDieter Deforce

A1 Journal Article in MITOCHONDRION

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

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

L DeprezS WeckhuysenP HolmgrenA SulsT Van DyckD GoossensJ Del-FaveroA JansenK VerhaertL Lagae et al.

A1 Journal Article in NEUROLOGY

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

Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene

Karen BuysseSarah VergultSilke MusscheChantal Ceuterick-De GrooteFranki SpelemanBjörn MentenWilly LissensRudy Van Coster

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

T HonzikM TesarovaJA MayrH HansikovaP JesinaO BodamerJ KochM MagnerP FreisingerM Huemer et al.

A1 Journal Article in ARCHIVES OF DISEASE IN CHILDHOOD

Mutations in PEX10 are a cause of autosomal recessive ataxia

Luc RégalMerel S EbberinkNathalie GoemansRonald JA WandersLinda De MeirleirJacques JaekenMaarten SchrootenRudy Van CosterHans R Waterham

A1 Journal Article in ANNALS OF NEUROLOGY

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

Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies

Miriam IannicelliFrancesco BrancatiSoumaya Mougou-ZerelliAnnalisa MazzottaSophie ThomasNadia ElkhartoufiLorena TravagliniCeline GomesGian Luigi ArdissinoEnrico Bertini et al.

A1 Journal Article in HUMAN MUTATION

Perisylvian polymicrogyria, infantile spasms and arthrogryposis : the severe end of the spectrum of congenital bilateral perisylvian polymicrogyria

ANJA DE COENERudy Van CosterHelene Verhelst

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Treatment of scot deficiency with modified corn starch (Glycosade)

PATRICK VERLOOM Van DriesscheRudy Van Coster

2009

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

LJ De MeirleirPATRICK VERLOORudy Van CosterJoél SmetB WuytsL HuberP Delonlay

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

Abnormal congenital disorders of glycosylation screening test leading to the diagnosis of Tay Sachs

PATRICK VERLOOBrigitte WuytsRudy Van Coster

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

Karen BuysseBARBARA DELLE CHIAIERudy Van CosterBart LoeysAnne De PaepeGeert MortierFranki SpelemanBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Childhood narcolepsy with partial facial cataplexy: a diagnostic dilemma

Karlien DhondtHelene VerhelstDirk PevernagieFlorence SlapRudy Van Coster

A1 Journal Article in SLEEP MEDICINE

Expanding CEP290 mutational spectrum in ciliopathies

Lorena TravagliniFrancesco BrancatiTania Attie-BitachSophie AudollentEnrico BertiniJosseline KaplanIsabelle PerraultMiriam IannicelliBrunella MancusoLuciana Rigoli et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Histochemical methods for the diagnosis of mitochondrial diseases

Boel De PaepeJan De BleeckerRudy Van Coster

Bookchapter in Current protocols in human genetics

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

Mutations in PEX10 Are a Cause of Autosomal Recessive Spinocerebellar Ataxia

Luc RégalMerel EbberinkRonald WandersHans WaterhamLinda De MeirleirJaak JaekenRudy Van CosterMaarten SchrootenNathalie Goemans

ORGANIC ACIDURIA AND LATE ONSET OPTIC ATROPHY

LJ De MeirleirP GoyensPATRICK VERLOOJoél SmetM VandriesscheK CorthoutsBart LeroyRudy Van Coster

PATHOPHYSIOLOGY OF PROPOFOL INFUSION SYNDROME (PRIS)

Arnaud VanlanderANNIK DE JAEGERJoél SmetRudy 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

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

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

Complement factor B deficiency associated with recurrent asceptic meningitis

Filomeen HaerynckPetra SchelstraeteJohan Vande WalleRudy Van CosterMaria Bordon Cueto De BraemF MascartJo Dehoorne

Hippocampal atrophy and developmental regression as first sign of linear scleroderma "en coup de sabre"

Helene VerhelstHilde BeeleRik JoosBenedicte VanneuvilleRudy Van Coster

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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.

NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism

UFH ENGELKEJO SASSRudy Van CosterE GERLOH OLBRICHS KRYWAWYCHJ CALVINC HARTH OMRANSRA WEVERS

A1 Journal Article in NMR IN BIOMEDICINE

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

F BrancatiL TravagliniD ZablockaE BoltshauserP AccorsiG MontagnaJL SilhavyG BarranoE BertiniF Emma et al.

A1 Journal Article in CLINICAL GENETICS

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

Sensory contributions to balance in boys with developmental coordination disorder

Frederik DeconinckDirk De ClercqRudy Van CosterAnn OostraGriet DewitteGeert JR SavelsberghDirk CambierMatthieu Lenoir

A1 Journal Article in ADAPTED PHYSICAL ACTIVITY QUARTERLY

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

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q(10) deficiency

A AEBYY SZNAJERH CAVÉE REBUFFATRudy Van CosterO RIGALP VAN BOGAERT

Editorial material

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

G RICET PATRICKR PARMARCF TAYLORA AEBYJ AICARDIR ARTUCHSA MONTALTOCA BACINOB BARROSO et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

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.

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

Limbic encephalitis as presentation of a SAP deficiency

Helene VerhelstRudy Van CosterNele BockaertGenevieve LaureysSylvie LatourA FischerFilomeen Haerynck

Editorial material

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

Vagus nerve stimulation for refractory status epilepticus

Paul BoonVeerle De HerdtLiesbeth WaterschootHelene VerhelstANNIK DE JAEGERRudy Van CosterDirk Van RoostKristl Vonck

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 tRNA Asn mutation causing multi-organ failure

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

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 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

Aanhoudende geïsoleerde transaminasenverhoging bij asymptomatische kinderen: verdenk ook de spieren

NATHALIE DE BRUIJNB POPPERudy Van CosterD CARTONEddy Robberecht

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Adaptations to task constraints in catching by boys with DCD

Frederik DeconinckDirk De ClercqGeert JP SavelsberghRudy Van CosterAnn OostraGriet DewitteMatthieu Lenoir

A1 Journal Article in ADAPTED PHYSICAL ACTIVITY QUARTERLY

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

Delayed neuromotor development combined with albinism and increased very long chain fatty acids.

PATRICK VERLOORudy Van CosterBirgit WuytsL DE MEIRLEIR

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

Differences in gait between children with and without developmental coordination disorder

Frederik DeconinckDirk De ClercqGeert JP SavelsberghRudy Van CosterAnn OostraGriet DewitteMatthieu Lenoir

A1 Journal Article in MOTOR CONTROL

Disorders of pyruvate metabolism and the tricarboxylic acid cycle

L DE MEIRLEIRRudy Van CosterW LISSENS

Bookchapter in Inborn Metabolic Diseases

Event rate and event-related potentials in ADHD

Roeljan WiersemaJacob Van der MeereHerbert RoeyersRudy Van CosterDieter Baeyens

A1 Journal Article in JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: The first case of aminoacylase I deficiency

E GERLORudy Van CosterW LISSENSG WINCKELMANSL DE MEIRLEIRR WEVERS

A1 Journal Article in ANALYTICA CHIMICA ACTA

Limbic encephalitis as presentation of a SAP deficiency

Helene VerhelstRudy Van CosterN BOCKAERTGenevieve LaureysAlexandra FischerFilomeen Haerynck

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.

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2

Kristien VerhoevenKG CLAEYSS ZUCHNERJM SCHRODERJ WEISC CEUTERICKA JORDANOVAE NELISEls De VriendtM VAN HUL et al.

A1 Journal Article in BRAIN

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

Frank RoelsPATRICK VERLOOS SENECAVALERIE MEERSSCHAUTF EYSKENSJoél SmetJJ MARTINMarleen PraetRudy Van Coster

Streptococcus cristatus isolated from a resected heart valve and blood cultures: Case reports and application of phenotypic and genotypic techniques for identification

Charlotte MatthysG CAEYSGerda VerschraegenG WAUTERSDirk VogelaersThierry De BaereRita VerhelstGuido Van NootenRudy Van CosterMario Vaneechoutte

A1 Journal Article in ACTA CLINICA BELGICA

Visual contribution to walking in children with Developmental Coordination Disorder

Frederik DeconinckDirk De ClercqGeert JP SavelsberghRudy Van CosterAnn OostraGriet DewitteMatthieu Lenoir

A1 Journal Article in CHILD CARE HEALTH AND DEVELOPMENT

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

Another case of word-final disfluencies

John Van BorselEDGARD GEIRNAERTRudy Van Coster

A1 Journal Article in FOLIA PHONIATRICA ET LOGOPAEDICA

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

Hot-water epilepsy: a new Caucasian case

K KEYZERI CORTHOUTSRudy Van CosterHelene Verhelst

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

How do children with DCD walk?

Frederik DeconinckDirk De ClercqRudy Van CosterGeert JP SavelsberghMatthieu Lenoir

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.

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

W SPERLP JESINAJ ZEMANJ MAYRRudy Van CosterJoél SmetJ HOUSTEK

Let's jump into DCD!

Frederik DeconinckDirk De ClercqRudy Van CosterGeert JP SavelsberghMatthieu Lenoir

Neuroradiologic findings in a young patient with characteristics of Sturge-Weber syndrome and Mippel-Mrenaunay syndrome

Helene VerhelstRudy Van Coster

A1 Journal Article in JOURNAL OF CHILD NEUROLOGY

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

Profiling of myelin proteins by 2D-gel electrophoresis and multidimensional liquid chromatography coupled to MALDI TOF-TOF mass Spectrometry

Frank VanrobaeysRudy Van CosterGoedele DhondtBart DevreeseJozef Van Beeumen

A1 Journal Article in JOURNAL OF PROTEOME RESEARCH

Sensory contributions to postural control in children with DCD

Frederik DeconinckDirk De ClercqRudy Van CosterGeert JP SavelsberghMatthieu Lenoir

Sensory contributions to postural control in children with DCD

Frederik DeconinckDirk De ClercqRudy Van CosterGeert JP SavelsberghMatthieu Lenoir

Steroids in intractable childhood epilepsy: clinical experience and review of the literature

Helene VerhelstPaul BoonGunnar BuyseBerten CeulemansMarc D'HoogheLinda De MeirleirDanièle HasaertsAn JansenLieven LagaeAlfred Meurs et al.

A1 Journal Article in SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

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

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

2004

A patient with Alexander disease

M SENEPARTRudy Van CosterM VAN DER KNAAP

A1 Journal Article in ACTA NEUROLOGICA BELGICA

A patient with late onset Krabbe disease treated by BMT

Rudy Van CosterJ LEROYG LYON

A1 Journal Article in ACTA NEUROLOGICA BELGICA

A syndrome with leuco-encephalopathy, extensive intracranial calcifications, hypothyroidism, failure to thrive and pericardial effusion

E SERCUJ JAEKENM VAN HELVOIRTRudy Van CosterF ROELENS

A1 Journal Article in ACTA NEUROLOGICA BELGICA

Aicardi-Goutieres-like syndrome

Rudy Van CosterHelene VerhelstV RAMAEKERS

A1 Journal Article in ACTA NEUROLOGICA BELGICA

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

Ataxia oculomotor apraxia I

Juliaan LeroyF ROELENSM DE RAMMELAERERudy Van CosterJan De Bleecker

Auto-immune disorders of cerebral white matter in children

Helene VerhelstJoél SmetGoedele DhondtM SENEPARTRudy Van Coster

A1 Journal Article in ACTA NEUROLOGICA BELGICA

Differences in gait between children with and without DCD

Frederik DeconinckDirk De ClercqGeert JP SavelsberghRudy Van CosterMatthieu Lenoir

Follow-up of spinal and brain MRI and proton MRS in a girl with bilateral optic neuropathy, additional CNS symptoms and complex I deficiency (LHON plus, MS-like disease)

E SCALAISRudy Van CosterR STEVENSC NUTTINS SENECAF MATAIGNEG DOOMS

A1 Journal Article in ACTA NEUROLOGICA BELGICA

Hydrocephaly and cobblestone lissencephaly in a preterm neonate

Claudine De PraeterKris De CoenPiet VanhaesebrouckGeert MortierCaroline Van den broeckeRudy Van Coster

Hypomyelination with atrophy of the basal ganglia and cerebellum: (H-ABC syndrome)

An SchillemansL GOLINVAUXRudy Van CosterM VAN DER KNAAP

A1 Journal Article in ACTA NEUROLOGICA BELGICA

Intractable ulcerative colitis of infancy in a child with mitochondrial respiratory chain disorder

M VANDERBORGHTMC NASSOGNED HERMANSS MONIOTTES SENECARudy Van CosterJP BUTSEM SOKAL

A1 Journal Article in JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Leukodystrophy associated with defect of respiratory chain complex I, Ii+Iii and Iv enzyme activities - case report

L CVITANOVIC-SOJATRudy Van CosterS SENECAWL LISSENSL DEMEIRLEIRR GJERGJAT SOJAT

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

Proteomic identification of the myelin proteins

Goedele DhondtFrank VanrobaeysBart DevreeseJozef Van BeeumenRudy Van Coster

A1 Journal Article in ACTA NEUROLOGICA BELGICA

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

Severe haemorrhagic leucoencephalopathy in a young infant

Helene VerhelstRudy Van Coster

A1 Journal Article in ACTA NEUROLOGICA BELGICA

Two siblings with early presentation of Vanishing White Matter disease

NELE BOCKAERTM VAN DER KNAAPC VAN DEN BROECKEHelene VerhelstM LAMMENSRudy Van Coster

A1 Journal Article in ACTA NEUROLOGICA BELGICA

2003

A new leukodystrophy with brainstem and spinal cord involvement and high lactate

MS VAN DER KNAAPP VAN DER VOORNF BARKHOFRudy Van CosterI KRAGELOH-MANNA FEIGENBAUMS BLASERJSH VLESP RIECKMANNPJW POUWELS

A1 Journal Article in ANNALS OF NEUROLOGY

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

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

L De MeirleirS SenecaE DamisB SepulchreAnne HoorensE GerloMTG SilvaEM HernandezW LissensRudy Van Coster

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Timing a catch in children with and without DCD

Frederik DeconinckDirk De ClercqGeert JP SavelsberghRudy Van CosterMatthieu Lenoir

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

K TANIGUCHIK KOBAYASHIK SAITOH YAMANOUCHIA OHNUMAYK HAYASHIH MANYADK JINM LEEE PARANO et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

eIF2B-related disorders: Antenatal onset and involvement of multiple organs

MS VAN DER KNAAPCGM VAN BERKELJ HERMSRudy Van CosterM BAETHMANNS NAIDUE BOLTSHAUSERMAAP WILLEMSENB PLECKOGF HOFFMANN et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2002

An inherited metabolic disorder presenting as ethylene glycol intoxication in a young adult.

Karen PienBruno Van VlemRudy Van CosterGeorges DacremontMichel Piette

A1 Journal Article in AMERICAN JOURNAL OF FORENSIC MEDICINE AND PATHOLOGY

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

I VISAPAAV FELLMANJ VESAA DASVARMAJL HUTTONV KUMARGS PAYNEM MAKAROWRudy Van CosterRW TAYLOR et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Letter to the editor: Meningeal carcinomatosis in a child with Ewing sarcoma

Catharina DhoogeRudy Van CosterANNIK DE JAEGEREls VandecruysGenevieve LaureysBart Vanzieleghem

A1 Journal Article in MEDICAL AND PEDIATRIC ONCOLOGY

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

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

MS VAN DER KNAAPS NAIDUP POUWELSS BONAVITARudy Van CosterL LAGAEJ SPERNERR SURTEESR SCHIFFMANNJ VALK

A1 Journal Article in AMERICAN JOURNAL OF NEURORADIOLOGY

Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)

C VOLKERClaudine De PraeterB HARDTW BREUERB KALZ-FULLERRudy Van CosterE BAUSE

A1 Journal Article in GLYCOBIOLOGY

Use of an event recorder in the decision for pacemaker implantation in a child with syncope

Henri VerhaarenOlivier VanakkerRudy Van CosterDaniël De WolfKatrien FrancoisDirk Matthys

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

2001

A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome.

S SENECAH VERHELSTL DE MEIRLEIRFrançoise MeireC GROOTEW LISSENSRudy Van Coster

A1 Journal Article in ARCHIVES OF NEUROLOGY

Alexander disease: diagnosis with MR imaging.

MS VAN DER KNAAPS NAIDUSN BREITERS BLASERH STROINKS SPRINGERJC BEGEERRudy Van Coster

A1 Journal Article in AMERICAN JOURNAL OF NEURORADIOLOGY

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

Dominant inheritance of sialuria, an inborn error of feedback inhibition.

Juliaan LeroyR SEPPALAM HUIZINGGeorges DacremontH DE SIMPELRudy Van CosterE ORVISKYDM KRASNEWICHWA GAHL

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondriale aandoeningen bij het kind

Rudy Van Coster

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

Retrospective study of topiramate in a paediatric population with intractable epilepsy showing promising effects in the West syndrome patients

J THIJSH VERHELSTRudy Van Coster

A1 Journal Article in ACTA NEUROLOGICA BELGICA

2000

A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation

Helene VerhelstAnn LofgrenRudy Van Coster

A2 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.

Claudine De PraeterGJ GERWIGE BAUSELieve NuytinckJ VLIEGENTHARTW BREUERJP KAMERLINGMarc EspeelJ MARTINAnne De Paepe et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

A novel disorder in a newborn caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

JFG VliegenthartClaudine De PraeterGG GerwigE BauseLieve NuytinckW BreuerJP KamerlingMarc EspeelJJR MartinAnne De Paepe et al.

A novel mitochondrial transfer RNA proline mutation.

S SENECAW LISSENSC CEUTERICK-DE GROOTERudy Van CosterL DE MEIRLEIR

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome.

Jo LambertJM NAEYAERTAnne De PaepeRudy Van CosterA FERSTERM SONGLudwine Messiaen

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.

S BUDDELPWJ VAN DEN HEUVELAJ JANSSENR SMEETSC BUSKENSL DEMEIRLEIRRudy Van CosterM BAETHMANNT VOITJ TRIJBELS et al.

A1 Journal Article in BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.

CM SUEC KARADIMASN CHECCARELLIK TANJILC PAPADOPOULOUF PALLOTTIFL GUOS SHANSKEM HIRANODC DE VIVO et al.

A1 Journal Article in ANNALS OF NEUROLOGY

Mitochondrial cytopathies and neuromuscular disorders.

Rudy Van CosterL DE MEIRLEIR

A1 Journal Article in ACTA NEUROLOGICA BELGICA

Ultrastructural localization of cytochrome c in apoptosis demonstrates mitochondrial heterogeneity.

Katharina D'HerdeB DE PRESTSylvie MusschePeter SchotteRudi BeyaertRudy Van CosterFrank Roels

A1 Journal Article in CELL DEATH AND DIFFERENTIATION

1999

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

LC PAPADOPOULOUCM SUEMM DAVIDSONK TANJII NISHINOJE SADLOCKS KRISHNAW WALKERJ SELBYDM GLERUM et al.

A1 Journal Article in NATURE GENETICS

Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.

Bart LoeysRudy Van CosterLuc DefreyneJuliaan Leroy

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.

HR SCHOLTERudy Van CosterPC DE JONGEB POORTHUISJ JENESONBS ANDRESENN GREGERSENJBC DE KLERKHFM BUSCH

A1 Journal Article in NEUROMUSCULAR DISORDERS

Neurocutaneous melanosis presenting with intracranial amelanotic melanoma.

Bart VanzieleghemMarc LemmerlingRudy Van Coster

A1 Journal Article in AMERICAN JOURNAL OF NEURORADIOLOGY

1998

Acute traumatic stroke: a case of bow hunter's stroke in a child

E DuvalRudy Van CosterK Verstraeten

A2 Journal Article in EUROPEAN JOURNAL OF EMERGENCY MEDICINE

MRI findings in a neonate with cerebellar agenesis.

Rudy Van CosterClaudine De PraeterPiet VanhaesebrouckJuliaan Leroy

A1 Journal Article in PEDIATRIC NEUROLOGY

Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples.

Rudy Van CosterSandra JanssensJP MISSONA VERLOESJuliaan Leroy

A1 Journal Article in PRENATAL DIAGNOSIS

1997

Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.

H SCHOLTERudy Van CosterP DE JONGEB POORTHUISJ JENESONB ANDRESENN GREGERSENJ DE KLERKH BUSCH

A2 Journal Article in NEUROLOGY REVIEW

Neurocutaneous melanosis presenting with intracranial arachnoid cyst and amelanotic malignant melanoma

Bart VanzieleghemP MOLLETA HEYSERudy Van CosterMarc Kunnen

1996

Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: A new example of the Chitty syndrome.

SG VANDAELERudy Van CosterFrançoise MeireAM SMETSJuliaan Leroy

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Repetitions in final position in a nine-year-old boy with focal brain damage

John Van BorselRudy Van CosterKristiane Van Lierde

A1 Journal Article in JOURNAL OF FLUENCY DISORDERS

1995

Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations.

Françoise MeireRudy Van CosterP COCHAUXB OBERMAIERKUSSERC CANDAELEJJ MARTIN

A1 Journal Article in OPHTHALMIC GENETICS

1992

Endoscopic treatment of suprasellar arachnoid cysts

Jacques CaemaertJ AbdullahLuc CalliauwDietbrand CartonCatharina DhoogeRudy Van Coster

A1 Journal Article in ACTA NEUROCHIRURGICA

Urgenties in de kindergeneeskunde

Rudy Van Coster

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

1991

Fatal outcome of pyruvate loading test in child with restrictive cardiomyopathy

Dirk MatthysRudy Van CosterHenri Verhaaren

A1 Journal Article in LANCET

Neuromusculaire aandoeningen bij kinderen. Informatieblad van de Vlaamse Studiegroep Vroegdiagnose, Vroegbehandeling en Ontwikkelingsbegeleiding 18: 13-17, 1996.

Rudy Van Coster