Research Explorer

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Researcher

Arnaud Vanlander

68 Results

2023

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

Arnaud Vanlander

A1 Journal Article in MOLECULAR PSYCHIATRY

2022

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

Sara CapiauJoél SmetBoel De PaepeMaxime VerschooreHedwig StepmanArnaud Vanlander

A1 Journal Article in CELLS

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Joél SmetRudy Van CosterArnaud Vanlander

A1 Journal Article in GENOME MEDICINE

Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly

Delfien BogaertRuth De BruyneArnaud VanlanderFilomeen HaerynckBarbara De Moerloose

A1 Journal Article in PEDIATRIC ALLERGY AND IMMUNOLOGY

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

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

A1 Journal Article in JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Neonatal lactic acidosis explained by LARS2 defect

Boel De PaepeJoél SmetRudy Van CosterArnaud Vanlander

A1 Journal Article in PEDIATRIC RESEARCH

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika SchuermansDimitri HemelsoetSanne SteyaertRudy Van CosterPaul CouckeBert CallewaertElke BogaertArnaud VanlanderElke DebackereJody GhijselsPontus LeBlancHannah VerdinLeslie NaesensFilomeen HaerynckSteven CallensBart DermautBruce PoppeJan De BleeckerPatrick SantensPaul BoonGuy LaureysTessa Kerre

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

2021

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

Eva JacobsAnnelies DheedeneArnaud VanlanderSarah VergultBert Callewaert

A1 Journal Article in CLINICAL GENETICS

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

Boel De PaepeJoél SmetChris BaekenMira MeeusIndra De GreefArnaud VanlanderJessica Van Oosterwijck

A2 Journal Article in HUISARTS NU (BERCHEM)

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

Arnaud Vanlander

A1 Journal Article in LANCET NEUROLOGY

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

Joél SmetMaxime VerschooreIrma LemmensJan TavernierArnaud VanlanderRudy Van Coster

A1 Journal Article in ISCIENCE

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

Levi HosteAgnieszka Prytula-EbelsJo DehoorneRuth De BruyneStephanie Van BiervlietPetra SchelstraeteEvelyn MaesVictoria Bordon MariaArnaud VanlanderJohan Vande WalleSabine Van daeleFilomeen Haerynck

2020

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

Arnaud VanlanderRudy Van Coster

A1 Journal Article in MUSCLE & NERVE

2019

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Bert CallewaertBjörn MentenArnaud VanlanderSarah Vergult

A1 Journal Article in GENETICS IN MEDICINE

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

Carolien BonroySaskia Vande VeldeStephanie Van BiervlietMyriam Van WinckelXavier RogiersArnaud VanlanderRuth De Bruyne

2018

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

Delfien BogaertCarolien BonroyJo DehoorneArnaud VanlanderMarieke De BruyneFrans De BaetsElfride De BaereFilomeen HaerynckMelissa Dullaers

A1 Journal Article in JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

Arnaud VanlanderRudy Van Coster

A1 Journal Article in JOURNAL OF BIOLOGICAL INORGANIC CHEMISTRY

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

Rudy Van CosterJoél SmetBoel De PaepeElise VantroysFemke NachtergaeleSarah VergultBjörn MentenArnaud Vanlander

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

Elise VantroysBoel De PaepeJoél SmetFemke NachtergaeleArnaud 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 SanteBjörn MentenRudy Van Coster

A1 Journal Article in NEUROLOGY-GENETICS

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

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

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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

Arnaud VanlanderHelene VerhelstElise VantroysJoél SmetBoel De PaepeSarah VergultBjörn MentenRudy Van Coster

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

Joél SmetArnaud VanlanderRudy Van Coster

A1 Journal Article in CLINICAL MICROBIOLOGY AND INFECTION

2017

New insights into the phenotype of FARS2 deficiency

Elise VantroysJoél SmetSarah VergultBoel De PaepeHerbert RoeyersBjörn MentenArnaud VanlanderRudy Van Coster

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

Nusinersen versus sham control in infantile-onset spinal muscular atrophy

Rudy Van CosterRuth Van der LoovenArnaud VanlanderHelene Verhelst

A1 Journal Article in NEW ENGLAND JOURNAL OF MEDICINE

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

Delfien BogaertCarolien BonroyJo DehoorneArnaud VanlanderMarieke De BruynePetra SchelstraeteFrans De BaetsElfride De BaereFilomeen HaerynckMelissa Dullaers

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

Delfien BogaertCarolien BonroyJo DehoorneArnaud VanlanderPetra SchelstraeteMarieke De BruyneFrans De BaetsElfride De BaereFilomeen HaerynckMelissa Dullaers

2016

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

Joél SmetBoel De PaepeArnaud VanlanderRudy Van Coster

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

Rudy Van CosterArnaud VanlanderJoél SmetElien De LatterKatrien Vandemeulebroecke

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

Arnaud VanlanderRudy Van CosterBjörn Menten

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

Arnaud VanlanderLaura Muiño MosqueraJoseph PanzerJoél SmetJo Van DorpeLiesbeth FerdinandeRudy Van Coster

A1 Journal Article in MITOCHONDRION

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

Elise VantroysJoél SmetArnaud VanlanderBoel De PaepeSarah VergultTom SanteBjörn MentenRudy Van Coster

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

Elise VantroysJoél SmetArnaud VanlanderBoel De PaepeSarah VergultTom SanteBjörn MentenRudy Van Coster

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

Rudy Van CosterJoél SmetBoel De PaepeArnaud VanlanderElise Vantroys

RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome

Delfien BogaertJoél SmetArnaud VanlanderVictoria Bordon MariaHelene VerhelstRudy Van CosterBjörn MentenMelissa Dullaers

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

Joél 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

Arnaud VanlanderJoél SmetRudy Van Coster

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

Rudy Van CosterJoél SmetArnaud VanlanderBoel De Paepe

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

Rudy Van CosterArnaud VanlanderJoél SmetElien De LatterKatrien Vandemeulebroecke

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

Arnaud VanlanderJoél SmetRudy Van Coster

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 SmetPetra 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 CreytensRudy Van Coster

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

Joél SmetMarc EspeelArnaud VanlanderRudy Van Coster

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 Vanlander

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

Arnaud VanlanderJoél SmetRudy Van Coster

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

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

Arnaud VanlanderRudy Van Coster

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Possible pathogenic mechanism of propofol infusion syndrome involves coenzyme Q

Arnaud VanlanderJoél SmetElien De LatterBoel De PaepeGeorges DacremontBrigitte WuytsBert VanheelPeter De PaepeRudy Van Coster

A1 Journal Article in ANESTHESIOLOGY

Recurrent duplications of 17q12 associated with variable phenotypes

Bert CallewaertArnaud VanlanderSandra JanssensElke Van Oudenhove

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Ilse MeerschautVictoria Bordon MariaCatharina DhoogeArnaud VanlanderBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Arnaud VanlanderBjörn MentenJoél SmetTom SanteBoel De PaepeSarah VergultElien De LatterLies VantommeRudy Van Coster

A1 Journal Article in HUMAN MUTATION

2014

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

Arnaud VanlanderJoél SmetBoel De PaepeRudy Van Coster

A1 Journal Article in PLOS ONE

Did lightning strike twice?

Jan De BleeckerRudy Van CosterJoél SmetBoel De PaepeArnaud Vanlander

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

Boel De PaepeKatrien VandemeulebroeckeJoél SmetArnaud VanlanderEllen DeschepperRudy 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 DumortierJan De BleeckerJoél SmetArnaud VanlanderRudy Van CosterJan Bourgois

A1 Journal Article in RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

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

Arnaud VanlanderBjörn MentenTom SanteJoél SmetRudy Van Coster

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 VanlanderTom SanteJoél SmetBoel De PaepeBjörn MentenRudy Van Coster

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

Boel De PaepeSofie SymoensArnaud VanlanderJoél 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 VanlanderJoél SmetBoel De PaepeElien De LatterLut Van LaerBart LoeysRudy Van Coster

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

Rudy Van CosterJoél SmetBoel De PaepeArnaud Vanlander

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

Joél SmetArnaud VanlanderRudy Van CosterBoel De Paepe

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

Arnaud VanlanderJoél SmetBoel De PaepeElien De LatterJuliaan LeroyRudy Van CosterLut Van LaerBart Loeys

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

Arnaud VanlanderJoél SmetBoel De PaepeElien De LatterJuliaan LeroyBart LoeysLut Van LaerRudy Van Coster

A1 Journal Article in HUMAN MOLECULAR GENETICS

2012

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

Boel De PaepeJoél SmetArnaud VanlanderMado VandewoestyneDieter DeforceRudy Van Coster

A1 Journal Article in PEDIATRIC RESEARCH

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

Arnaud VanlanderJoél SmetBoel De PaepeRudy Van Coster

A1 Journal Article in ACTA ANAESTHESIOLOGICA SCANDINAVICA

2010

Propranolol as a novel treatment for congenital visceral haemangioma

Arnaud Vanlander

A1 Journal Article in NEONATOLOGY

2009

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

Rudy Van CosterArnaud VanlanderJoél SmetHelene Verhelst

PATHOPHYSIOLOGY OF PROPOFOL INFUSION SYNDROME (PRIS)

Arnaud VanlanderJoél SmetRudy Van Coster