Research Explorer

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Researcher

Boel De Paepe

Awards & Distinctions

233 Results

2025

Changes to the autophagy-related muscle proteome following short-term treatment with ectoine in the Duchenne muscular dystrophy mouse model mdx

Eulàlia Gómez ArmengolCaroline MerckxHanne De SutterJan De BleeckerBoel De Paepe

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

2024

Autoantibodies against a subunit of mitochondrial respiratory chain complex I in inclusion body myositis

Antonella NotarnicolaCeke HellstromBegum HoruluogluElisa PinCharlotta PregerFrancesco BonomiBoel De PaepeJan De BleeckerAnneke J. Van der KooiMarianne De Visser et al.

A1 Journal Article in JOURNAL OF AUTOIMMUNITY

Comparison of clinical features between patients with anti-synthetase syndrome and dermatomyositis : results from the MYONET registry

Ryan Malcolm HumJames B LillekerJanine A LambAlexander G S OldroydGuochun WangLucy R WedderburnLouise P DiederichsenJens SchmidtMaria Giovanna DanieliPaula Oakley et al.

A1 Journal Article in RHEUMATOLOGY

Discovery of new myositis genetic associations through leveraging other immune-mediated diseases

Guillermo RealesChristopher I. AmosOlivier BenvenisteHector ChinoyJan De BleeckerBoel De PaepeAndrea DoriaPeter K. GregersenJanine A. LambVidya Limaye et al.

A2 Journal Article in HUMAN GENETICS AND GENOMICS ADVANCES

Ectoine treatment stimulates protein markers of autophagy efficiency in the Duchenne muscular dystrophy mouse model mdx

Eulàlia Gómez ArmengolCaroline MerckxJan De BleeckerBoel De Paepe

Maak kennis met de UGent studenten betrokken bij innovatief onderzoek naar spinale musculaire atrofie

Boel De PaepeLennart Mariën

A4 Journal Article in SPIERKRACHT

Potential new autoimmune target in inclusion body myositis

A NotarnicolaC HellstromB HoruluogluC PregerF BonomiBoel De PaepeJan De BleeckerA Van der KooiM de VisserS Sacconi et al.

2023

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

Pedro Ervilha PereiraNika SchuermansAntoon MeylemansPontus LeBlancLauren VersluysKE CopleyJD RubienC AltheimerMyra PeetermansElke Debackere et al.

A1 Journal Article in ACTA NEUROPATHOLOGICA

De toekomst van innovatief onderzoek naar Duchenne spierdystrofie: Maak kennis met de huidige lichting studenten in het laboratorium voor neuropathologie

Article in a magazine

Diagnose en subtypering van myositis op basis van cytokine profielen : hoe wetenschappelijke inzichten langzaam de weg kunnen vinden naar de kliniek

A4 Journal Article in SPIERKRACHT

Identification of novel associations and localization of signals in idiopathic inflammatory myopathies using genome‐wide imputation

Simon RothwellChristopher I. AmosFrederick W. MillerLisa G. RiderIngrid E. LundbergPeter K. GregersenJiri VencovskyNeil McHughVidya LimayeAlbert Selva‐O'Callaghan et al.

A1 Journal Article in ARTHRITIS & RHEUMATOLOGY

Low gene copy numbers of complement C4 and complement C4A deficiency are strong and highly significant genetic risk factors for idiopathic inflammatory myopathy and its major subgroups

Daniel ZhouEmily KingSimon RothwellOlga KrystufkovaAntonella NotarnicolaRabheh AzizEmeli LundstromBlanka StiburkovaLauren PachmanGulnara Mamyrova et al.

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

Organic osmolytes and Duchenne muscular dystrophy : from homeostasis, inflammation and skeletal muscle regeneration to therapeutic target

Sandrine HerbeletCaroline MerckxBoel De Paepe

Bookchapter in Novel Research Aspects in Medicine and Medical Science Vol. 7

Osmolytes and their therapeutic applicability in the mdx mouse

Caroline MerckxJan De BleeckerBoel De Paepe

Retrospective study shows that serum levels of chemokine CXCL10 and cytokine GDF15 support a diagnosis of sporadic inclusion body myositis and immune-mediated necrotizing myopathy

Boel De PaepeKen BrackeJan De Bleecker

A1 Journal Article in BRAIN SCIENCES

2022

A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration

Pedro Ervilha PereiraNika SchuermansAntoon MeylemansPontus LeBlancL VersluysElke DebackereOlivier VanakkerSara JanssensJonathan BaetsK Verhoeven et al.

An exploratory study of circulating cytokines and chemokines in patients with muscle disorders proposes CD40L and CCL5 represent general disease markers while CXCL10 differentiates between patients with an autoimmune myositis

Boel De PaepeKen BrackeJan De Bleecker

A2 Journal Article in CYTOKINE. X

Clinical features of extra-muscular disease in dermatomyositis and anti-synthetase syndrome patients with skin involvement classified by presence of disease-specific autoantibodies : results from the EuroMyositis registry

Ryan M HumJames B LillekerJanine A LambWilliam E OllierGuochung WangLucy R WedderburnLouise P DiederichsenJens SchmidtPaula OakleyOlivier Benveniste et al.

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

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

A1 Journal Article in CELLS

Description of osmolyte pathways in maturing MDX mice reveals altered taurine and sodium/myo-inositol co-transporter levels

Caroline MerckxGwenny CosemansJana ZschuentzschJens SchmidtBoel De PaepeJan De Bleecker

Description of osmolyte pathways in maturing mdx mice reveals altered levels of taurine and sodium/myo-inositol co-transporters

Caroline MerckxGwenny CosemansJana ZschüntzschRobrecht RaedtJens SchmidtBoel De PaepeJan De Bleecker

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Expanded phenotyping by microscopic imaging

Frank RoelsPATRICK VERLOOBoel De PaepeJan De BleeckerRudy Van Coster

Expanding the TDP-43 proteinopathy pathway from neurons to muscle : physiological and pathophysiological functions

Lauren VersluysPedro Ervilha PereiraNika SchuermansBoel De PaepeJan De BleeckerElke BogaertBart Dermaut

A1 Journal Article in FRONTIERS IN NEUROSCIENCE

Exploring the therapeutic potential of ectoine in Duchenne Muscular Dystrophy : comparison with taurine, a supplement with known beneficial effects in the mdx mouse

Caroline MerckxJana ZschüntzschStefanie MeyerRobrecht RaedtHanne VerschuereJens SchmidtBoel De PaepeJan De Bleecker

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Inducible heat shock protein 70 levels in patients and the mdx mouse affirm regulation during skeletal muscle regeneration in muscular dystrophy

Gwenny CosemansCaroline MerckxJan De BleeckerBoel De Paepe

A2 Journal Article in FRONTIERS IN BIOSCIENCE (SCHOLAR ED.)

Osmolyten als ondersteunende therapie voor Duchenne musculaire dystrofie : het potentieel van taurine en ectoïne als voedingssupplement

A4 Journal Article in SPIERKRACHT

Osmotic stress-associated sodium/myo-inositol co-transporter is upregulated in skeletal muscle of the mdx mouse

Caroline MerckxGwenny CosemansJana ZschuentzschJens SchmidtJan De BleeckerBoel De Paepe

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.

The role of taurine in skeletal muscle functioning and its potential as a supportive treatment for Duchenne Muscular Dystrophy

Caroline MerckxBoel De Paepe

A1 Journal Article in METABOLITES

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

Diagnostic muscle biopsies in the era of genetics : the added value of myopathology in a selection of limb-girdle muscular dystrophy patients

Boel De PaepeElise VelgheLinnea SalminenBalint TothPieter OlivierJan De Bleecker

A1 Journal Article in ACTA NEUROLOGICA BELGICA

Duchenne muscular dystrophy fibrosis potentially explained by abnormal NFAT5 physiology in Duchenne muscular dystrophy fibroblasts

Sandrine HerbeletBoel De PaepeJan De Bleecker

Bookchapter in New Innovations in Chemistry and Biochemistry Vol. 5

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)

NFAT5 in myositis and Duchenne muscular dystrophy : localization, expression and interaction with glucocorticoids in in vitro cell models

Sandrine HerbeletJan De BleeckerBoel De Paepe

Pathologie van dunne vezels als link tussen de zeldzame diagnose van dunnevezelneuropathie en de vaak voorkomende aandoening fibromyalgie

A4 Journal Article in SPIERKRACHT

Studies on anti-inflammatory and general glucocorticoid physiology in skeletal muscles affected by Duchenne muscular dystrophy : an approach towards exploration of steroid-sparing agents

Sandrine HerbeletArthur RodenbachBoel De PaepeJan De Bleecker

Bookchapter in Current advances in chemistry and biochemistry, vol. 7

Study of NFAT5 physiology in Duchenne muscular dystrophy fibroblasts : provisionary explanation for the permanent fibrosis formation in Duchenne muscular dystrophy

Sandrine HerbeletBoel De PaepeJan De Bleecker

Bookchapter in Recent Research Advances in Biology Vol. 9

The PKA-p38MAPK-NFAT5-organic osmolytes pathway in Duchenne muscular dystrophy : from essential player in osmotic homeostasis, inflammation and skeletal muscle regeneration to therapeutic target

Sandrine HerbeletCaroline MerckxBoel De Paepe

A1 Journal Article in BIOMEDICINES

The heterogeneity of immune-mediated necrotizing myopathy illustrated in a cohort of Belgian patients : consequences for diagnosis and disease management

Boel De PaepeJan De Bleecker

Bookchapter in Advances in health and disease

2020

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

Boel De PaepeJoél SmetChris BaekenJessica Van OosterwijckMira Meeus

A1 Journal Article in MEDICAL HYPOTHESES

Abnormal NFAT5 physiology in Duchenne muscular dystrophy fibroblasts as a putative explanation for continuous fibrotic tissue production and the interaction between NFAT5 and glucocorticoid receptor

Sandrine HerbeletBoel De PaepeJan De Bleecker

Abnormal NFAT5 physiology in Duchenne muscular dystrophy fibroblasts as a putative explanation for the permanent fibrosis formation in Duchenne muscular dystrophy

Sandrine HerbeletBoel De PaepeJan De Bleecker

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Anti-inflammatory and general glucocorticoid physiology in skeletal muscles affected by Duchenne muscular dystrophy : exploration of steroid-sparing agents

Sandrine HerbeletArthur RodenbachBoel De PaepeJan De Bleecker

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Description of a novel mechanism possibly explaining the antiproliferative properties of glucocorticoids in Duchenne muscular dystrophy fibroblasts based on glucocorticoid receptor GR and NFAT5

Sandrine HerbeletBoel De PaepeJan De Bleecker

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Localization and expression of nuclear factor of activated T-cells 5 in myoblasts exposed to pro-inflammatory cytokines or hyperosmolar stress and in biopsies from myositis patients

Sandrine HerbeletElly De VlieghereAmanda GonçalvesBoel De PaepeKarsten SchmidtEline NysLaurens WeynantsJoachim WeisGert Van PeerJo Vandesompele et al.

Bookchapter in Myokines, adipokines, cytokines in muscle pathophysiology

Myo-inositol transporter SLC5A3 associates with degenerative changes and inflammation in sporadic inclusion body myositis

Boel De PaepeCaroline MerckxJana JarosovaMiryam CannizzaroJan De Bleecker

A1 Journal Article in BIOMOLECULES

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

Progressive skeletal muscle atrophy in muscular dystrophies : a role for toll-like receptor-signaling in disease pathogenesis

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis.

Boel De PaepeFien VerhammeJan De Bleecker

A1 Journal Article in Cytokine

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

How mitochondrial DNA-driven changes to chromosomal DNA methylation add a layer of complexity to mitochondrial disease

Editorial material

Idiopathic inflammatory myopathy : interrater variability in muscle biopsy reading

Pieter OlivierBoel De PaepeEleonora AronicaFlorieke BerfeloRoos ColmanAnthony AmatoDalia DimitriEduard GallardoRomain GherardiHans-Hilmar Goebel et al.

A1 Journal Article in NEUROLOGY

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

Willem De RidderIsabelle NelsonBob AsselberghBoel De PaepeMaud BeuvinRabah Ben YaouCécile MassonAnne BolandJean-François DeleuzeThierry Maisonobe et al.

A1 Journal Article in NEUROLOGY-GENETICS

Sporadic inclusion body myositis : an acquired mitochondrial disease with extras

A1 Journal Article in BIOMOLECULES

The changed transcriptome of muscular dystrophy and inflammatory myopathy : contributions of non-coding RNAs to muscle damage and recovery

A2 Journal Article in OBM GENETICS

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

BVES loss-of-function mutations in limb-girdle muscular dystrophy 2X with cardiac conduction disorders

I NelsonW De RidderB AsselberghBoel De PaepeM BeuvinR Ben YaouA BolandJ DeleuzeT MaisonobeB Eymard et al.

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

Genetic background may contribute to the latitude-dependent prevalence of dermatomyositis and anti-TIF1-γ autoantibodies in adult patients with myositis

Joanna E ParkesSimon RothwellAlexander OldroydHector ChinoyJanine A Lambthe Myositis Genetics Consortium (MYOGEN)Jan De BleeckerBoel De Paepe

A1 Journal Article in ARTHRITIS RESEARCH & THERAPY

How long noncoding RNAs enforce their will on mitochondrial activity : regulation of mitochondrial respiration, reactive oxygen species production, apoptosis, and metabolic reprogramming in cancer

Boel De PaepeSteve LefeverPieter Mestdagh

A1 Journal Article in CURRENT GENETICS

Induction of osmolyte pathways in skeletal muscle inflammation : novel biomarkers for myositis

Boel De PaepeJana ZschüntzschTea ŠokčevićJoachim WeisJens SchmidtJan De Bleecker

A1 Journal Article in FRONTIERS IN NEUROLOGY

Localization and expression of nuclear factor of activated T-cells 5 in myoblasts exposed to pro-inflammatory cytokines or hyperosmolar stress and in biopsies from myositis patients

Sandrine HerbeletElly De VlieghereAmanda GonçalvesBoel De PaepeKarsten SchmidtEline NysLaurens WeynantsJoachim WeisGert Van PeerJo Vandesompele et al.

A1 Journal Article in FRONTIERS IN PHYSIOLOGY

NFAT5 and p38 MAPKs interact in muscle cells responding to osmotic and inflammatory stress and in polymyositis

Boel De PaepeSandrine HerbeletJens SchmidtJan De Bleecker

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

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

The EuroMyositis registry : an international collaborative tool to facilitate myositis research

James B LillekerJiri VencovskyGuochun WangLucy R WedderburnLouise Pyndt DiederichsenJens SchmidtPaula OakleyOlivier BenvenisteMaria Giovanna DanieliKatalin Danko et al.

A1 Journal Article in ANNALS OF THE RHEUMATIC 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

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

A recipe for myositis : nuclear factor κB and nuclear factor of activated T-cells transcription factor pathways spiced up by cytokines

A2 Journal Article in AIMS ALLERGY AND IMMUNOLOGY

Cytokines as orchestrators of skeletal muscle tissue maintenance and the inflammation associated with acquired autoimmune and hereditary muscle diseases

Bookchapter in Cytokine effector functions in tissues

Immune-array analysis in sporadic inclusion body myositis reveals HLA-DRB1 amino acid heterogeneity across the myositis spectrum

Simon RothwellRobert G CooperIngrid E LundbergPeter K GregersenMichael G HannaPedro M MachadoMegan K HerbertGer JM PruijnJames B LillekerMark Roberts et al.

A1 Journal Article in ARTHRITIS & RHEUMATOLOGY

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

Osmolyte accumulator expression is induced in muscle cells in response to inflammation

Boel De PaepeJana ZschuntzschJan De BleeckerJens Schmidt

Osmolyte transporters of Betaine GABA (SLC6Al2) and taurine (SLC5A3) are expressed in muscle-infiltrating mononuclear cells in inflammatory myopathies

Boel De PaepeJoachim WeisJan De Bleecker

Osmolytes as mediators of the muscle tissue’s responses to inflammation : emerging regulators of myositis with therapeutic potential

A2 Journal Article in EUROPEAN MEDICAL JOURNAL. RHEUMATOLOGY

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

Vascular changes and perifascicular muscle fiber damage in dermatomyositis : another question of the chicken or the egg that is on our mind

Editorial material

2016

Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism

Boel De PaepeJean-Jacques MartinSandrine HerbeletCecilia Jimenez-MallebreraEstibaliz IglesiasCristina JouJoachim WeisJan De Bleecker

A1 Journal Article in LABORATORY INVESTIGATION

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

Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups

Simon RothwellRobert G CooperIngrid E LundbergFrederick W MillerPeter K GregersenJohn BowesJiri VencovskyKatalin DankoVidya LimayeAlbert Selva-O'Callaghan et al.

A1 Journal Article in ANNALS OF THE RHEUMATIC DISEASES

Inflammatory mediators in inflammatory myopathies

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

NFAT5 in Duchenne muscular dystrophy cultured myoblasts after exposure to hyperosmolar salt conditions

Sandrine HerbeletAmanda GonçalvesElly De VlieghereGert Van PeerBoel De PaepeChris GuerinJo VandesompeleOlivier De WeverJan De Bleecker

NFAT5 in inflammatory myopathies and Duchenne muscular dystrophy

Sandrine HerbeletAmanda GonçalvesElly De VlieghereBoel De PaepeChris GuerinOlivier De WeverJan De Bleecker

Osmoregulatory pathways are activated in polymyositis: increased expression of osmolyte accumulators in muscle fibers and immune cells

Boel De PaepeJohan RonnelidJens SchmidtJan De Bleecker

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

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Qiang GangConceicão BettencourtPedro M MachadoStefen BradyJanice L HoltonAlan M PittmanDeborah HughesEstelle HealyMatthew PartonDavid Hilton-Jones et al.

A1 Journal Article in NEUROBIOLOGY OF AGING

The core protein to myogenesis NFAT5 forms aggresomes in normal and Duchenne muscular dystrophy myotubes exposed to cell stressors

Sandrine HerbeletElly De VlieghereAmanda GonçalvesBoel De PaepeChris GuerinOlivier De WeverJan De Bleecker

The core protein to myogenesis NFAT5 forms aggresomes in normal and Duchenne muscular dystrophy myotubes exposed to cell stressors

Sandrine HerbeletElly De VlieghereGert Van PeerBoel De PaepeEline NysLaurens WeynantsJo VandesompeleOlivier De WeverJens SchmidtJan De Bleecker

2015

205th ENMC international workshop: pathology diagnosis of idiopathic inflammatory myopathies part II, 28-30 March 2014, Naarden, The Netherlands

Jan De BleeckerBoel De Paepefor the ENMC Myositis Muscle Biopsy Study groupAnthony AmatoEleonora AronicaOlivier BenvenisteOnno de BoerMarianne de VisserMazen DimachkieRomain Gherardi et al.

A1 Journal Article in NEUROMUSCULAR DISORDERS

Activation of the nuclear factor of activated T-cells 5 pathway is characteristic of the perifascicular muscle fiber atrophy observed in dermatomyositis

Boel De PaepeCecilia Jimenez-MallebreraE IglesiasC JouJean-Jacques MartinJoachim WeisSandrine HerbeletJan De Bleecker

Addition of NaCl upregulates NFAT5 expression in Duchenne muscular dystrophy cultured myotubes

Laurens WeynantsEline NysSandrine HerbeletBoel De PaepeElly De VlieghereLiselot MusLynn FeysOlivier De WeverJan De Bleecker

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

Does perinatal infection affect the capacity of umbilical vein endothelial cells to produce adenosine triphosphate?

Editorial material

Inflammatory- and NaCl-induced expression of NFAT5 in muscle cells point to common stress response mechanisms

Sandrine HerbeletKarsten SchmidtJana ZschüntzschEline NysLaurens WeynantsBoel De PaepeOlivier De WeverJan De BleeckerJens Schmidt

Interferons as components of the complex web of reactions sustaining inflammation in idiopathic inflammatory myopathies

A1 Journal Article in CYTOKINE

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

Pro-inflammatory cell stress in muscle cells is directed by NFAT5

Sandrine HerbeletJens SchmidtOlivier De WeverEline NysLaurens WeynantsDorien ClarisseGlenn VergauwenBoel De PaepeJan De Bleecker

SQSTM1 and VCP mutations in a series of 205 inclusion body myositis cases

Q GangC BettencourtS BradyJL HoltonAM PittmanD HughesE HealyM PartonD Hilton-JonesPB Shieh et al.

Scanning for therapeutic targets within the cytokine network of idiopathic inflammatory myopathies

Boel De PaepeJana Zschüntzsch

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Systematic protein-protein interaction and pathway analyses in the idiopathic inflammatory myopathies

Joanna ParkesSimon RothwellPhilip DayNeil J McHughZoë BetteridgeRobert CooperWilliam E OllierHector ChinoyJanine Lambthe MYOGEN group et al.

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

Qiang GangConceicao BettencourtPedro M MachadoZoe FoxStefen BradyEstelle HealyMatt PartonJanice L HoltonDavid Hilton-JonesPerry B Shieh et al.

A1 Journal Article in NEUROBIOLOGY OF AGING

Treatment of idiopathic inflammatory myopathies: targets inside the cytokine network

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

Arnaud VanlanderBjörn MentenJoél SmetLinda De MeirleirTom SanteBoel De PaepeSara SenecaSarah F PearceChristopher A PowellSarah Vergult et al.

A1 Journal Article in HUMAN MUTATION

2014

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

Kim VancampenhoutBen CaljonClaudia SpitsKatrien StouffsAn JonckheereLinda De MeirleirWilly LissensArnaud VanlanderJoél SmetBoel De Paepe et al.

A1 Journal Article in PLOS ONE

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

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

A2 Journal Article in MOLECULAR GENETICS AND METABOLISM REPORTS

Did lightning strike twice?

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

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

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

A1 Journal Article in PHYTOTHERAPY RESEARCH

International immunochip study in the idiopathic inflammatory myopathies identifies novel susceptability loci and confirms HLA as strongest genetic risk factor

Simon RothwellRobert G CooperIngrid E LundbergFrederick W MillerPeter K GregersenJiri VencovskyKatalin DankoLucy R WedderburnVidya LimayeAlbert Selva O'Callaghan et al.

NFAT5 in idiopathic inflammatory myopathies and Duchenne muscular dystrophy

Sandrine HerbeletJens SchmidtBoel De PaepeLaurens WeynantsEline NysKim CreusJan De Bleecker

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

Susana G KalkoSonia PacoCristina JouMaria Angels RodríguezMarija MeznaricMihael RogacMaja Jekovec-VrhovsekMonica SciaccoMaurizio MoggioGigliola Fagiolari et al.

A1 Journal Article in BMC GENOMICS

Treating mitochondrial myopathy : can we boost oxidative phosphorylation activities by enhancing mitochondrial biogenesis?

A2 Journal Article in AUSTIN JOURNAL OF MUSCULOSKELETAL DISORDERS

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

193rd ENMC International workshop: Pathology diagnosis of idiopathic inflammatory myopathies, 30 November-2 December 2012, Naarden, The Netherlands

Jan De BleeckerIngrid E LundbergMarianne de Visserthe ENMC Myositis Muscle Biopsy Study GroupBoel De Paepe

A1 Journal Article in NEUROMUSCULAR DISORDERS

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

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

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

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

Anti-angiogenic therapy for cancer: past, present and future

Bookchapter in Topics in anti-cancer research, vol. 2

Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy

Boel De PaepeJan De Bleecker

A1 Journal Article in MEDIATORS OF INFLAMMATION

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

Heat-shock proteins in autoimmunity

Kamal D MoudgilStephen J ThompsonFabiana GeraciBoel De PaepeYehuda Shoenfeld

Editorial material

Les cytokines TNF dans les myopathies inflammatoires: une cible thérapeutique potentielle

Boel De PaepeJan De Bleecker

A4 Journal Article in NEURONE (EDITION FRANCAISE)

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

TNF-cytokines in inflammatoire myopathieën: potentiële targets voor behandeling

Boel De PaepeJan De Bleecker

A4 Journal Article in NEURON (NEDERLANDSE ED.)

The nonnecrotic invaded muscle fibers of polymyositis and sporadic inclusion body myositis: on the interplay of chemokines and stress proteins

Boel De PaepeJan De Bleecker

A1 Journal Article in NEUROSCIENCE LETTERS

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

Expression of chemokines and their receptors in muscle tissues from Duchenne muscular dystrophy patients

Boel De PaepeKim CreusJ-J MartinJan De Bleecker

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

Heat shock protein families 70 and 90 in Duchenne muscular dystrophy and inflammatory myopathy: balancing muscle protection and destruction

Boel De PaepeKim CreusJoachim WeisJan De Bleecker

A1 Journal Article in NEUROMUSCULAR DISORDERS

Heat-shock proteins in autoimmunity

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

Lymphotoxin beta : an important cytokine in inflammatory myopathy

Kim CreusBoel De PaepeJ WeisJan De Bleecker

Mitochondrial markers for cancer : relevance to diagnosis, therapy and prognosis, and general understanding of malignant disease mechanisms

A2 Journal Article in ISRN PATHOLOGY

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

TNF-cytokines in inflammatoire myopathieën : potentiële targets voor behandeling

Boel De PaepeJan De Bleecker

A2 Journal Article in ORTHO-RHEUMATO

The multifaceted character of the cytokine lymphotoxinβ in inflammatory myopathies

Jan De BleeckerKim CreusJoachim WeisBoel De Paepe

The tumor necrosis factor superfamily of cytokines in the inflammatory myopathies : potential targets for therapy

Boel De PaepeKim CreusJan De Bleecker

A1 Journal Article in CLINICAL & DEVELOPMENTAL IMMUNOLOGY

Upregulation of chemokines and their receptors in Duchenne muscular dystrophy: potential for attenuation of myofiber necrosis

Boel De PaepeKim CreusJean-Jacques MartinJan De Bleecker

A1 Journal Article in MUSCLE & NERVE

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

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

Localization of chemokines and their receptors in muscle tissues from Duchenne muscular dystrophy patients

Jan De BleeckerKim CreusJean Jacques MartinBoel De Paepe

2010

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

Expression of heat shock proteins in skeletal muscle from idiopathic inflammatory myopathy and Duchenne muscular dystrophy patients

Jan De BleeckerKim CreusJean-Jacques MartinJoachim WeisBoel De Paepe

Mutations in TMEM70 causes severe encephalocardiomyopathy as well as mild encephalopathy

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

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

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

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

Bart DermautS SenecaL DomK SmetsL CeulemansJoél SmetBoel De PaepeS TousseynS WeckhuysenM Gewillig et al.

A1 Journal Article in JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

2009

A Dual Role for HSP90 and HSP70 in the Inflammatory Myopathies From Muscle Fiber Protection to Active Invasion by Macrophages

Boel De PaepeKim CreusJJ MartinJ WeisJan De Bleecker

A1 Journal Article in ANNALS OF THE NEW YORK ACADEMY OF SCIENCES

Distribution of the NF-kappa B Complex in the Inflammatory Exudates Characterizing the Idiopathic Inflammatory Myopathies

Kim CreusBoel De PaepeBART WERBROUCKVEERLE VERVAETJ WeisJan De Bleecker

A1 Journal Article in ANNALS OF THE NEW YORK ACADEMY OF SCIENCES

Expression of HSP90 alpha and HSP90 beta in the idiopathic inflammatory myopathies and Duchenne muscular dystrophy

Jan De BleeckerBoel De PaepeKim CreusJJ MartinJ Weis

Histochemical methods for the diagnosis of mitochondrial diseases

Boel De PaepeJan De BleeckerRudy Van Coster

Bookchapter in Current protocols in human genetics

Idiopathic inflammatory myopathies and the classical NF-kappa B complex: Current insights and implications for therapy

Kim CreusBoel De PaepeJan De Bleecker

A1 Journal Article in AUTOIMMUNITY REVIEWS

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

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

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.

Role of cytokines and chemokines in idiopathic inflammatory myopathies

Boel De PaepeKim CreusJan De Bleecker

A1 Journal Article in CURRENT OPINION IN RHEUMATOLOGY

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA

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

A1 Journal Article in ELECTROPHORESIS

2008

Chemokines in idiopathic inflammatory myopathies

Boel De PaepeKim CreusJan De Bleecker

A1 Journal Article in FRONTIERS IN BIOSCIENCE

Immunostaining technniques in patients with mtDNA depletion

Rudy Van CosterBoel De PaepeJoél SmetS SENECAW LISSENSL DE MEIRLEIRFrank Roels

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

Rudy Van CosterJoél SmetBoel De PaepeS SENECAW LISSENSL DE MEIRLEIR

TNF alpha receptor genotype influences smoking-induced muscle-fibre-type shift and atrophy in mice

Boel De PaepeGuy BrusselleTania MaesKim CreusSophie D'hoseNele D'HaeseKen BrackeAn D'hulstGuy JoosJan De Bleecker

A1 Journal Article in ACTA NEUROPATHOLOGICA

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

Chemokine profile of different inflammatory myopathies reflects humoral versus cytotoxic immune responses

Boel De PaepeKim CreusJan De Bleecker

A1 Journal Article in Annals of the New York Academy of Sciences

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

Distribution of glucocorticoid receptor alpha and beta subtypes in the idiopathic inflammatory myopathies

Jan De BleeckerBoel De PaepeVEERLE VERVAETBO ARYSKim CreusBF WERBROUCKJJ MARTIN

A1 Journal Article in NEUROMUSCULAR DISORDERS

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

TNF alpha receptor signalling influences the expression of myosin heavy chain isoforms in musculus gastrocnemius of the mouse

Boel De PaepeKim CreusSophie D'hoseGuy BrusselleJan De Bleecker

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

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

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

Rudy Van CosterJoél SmetBoel De PaepeS SENECAA MEULEMANSW LISSENSL DE MEIRLEIR

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

Rudy Van CosterJoél SmetBoel De PaepeS SENECAA MEULEMANSW LISSENSL DE MEIRLEIR

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

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

A1 Journal Article in ARCHIVES OF NEUROLOGY

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

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

2006

A novel mitochondrial 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

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

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

Expression of inhibitor kappa B-alpha in idiopathic inflammatory myopathies

Kim CreusBoel De PaepeN D'HaeseBART WERBROUCKG De ConinckJan De Bleecker

Potential therapeutic targets for idiopathic inflammatory myopathies

Jan De BleeckerKim CreusBoel De Paepe

A1 Journal Article in DRUG NEWS & PERSPECTIVES

The distribution of IkappaBalpha in inflammatory myopathies

Jan De BleeckerKim CreusN D'HAESEBART WERBROUCKG DE CONINCKBoel De Paepe

2005

Alpha-chemokine receptors CXCR1-3 and their ligands in idiopathic inflammatory myopathies

Boel De PaepeKRISTEL DE KEYZERJJ MARTINJan De Bleecker

A1 Journal Article in ACTA NEUROPATHOLOGICA

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

Distribution of glucocorticoid receptor subtypes in inflammatory myopathy

Jan De BleeckerBoel De PaepeV VERVAETBO ARYSNele D'Haese

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

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

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

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

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

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

A1 Journal Article in CLINICAL PHARMACOLOGY & THERAPEUTICS

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

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

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

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

Localization of glucocorticoid receptor alpha and beta subtypes in inflammatory myopathy

Boel De PaepeVEERLE VERVAETBO ARYSNele D'HaeseJan De Bleecker

β-chemokine receptor expression in idiopathic inflammatory myopathies

Boel De PaepeJan De Bleecker

A1 Journal Article in MUSCLE & NERVE

2004

Expression and distribution of the nitric oxide synthases in idiopathic inflammatory myopathies

Boel De PaepeGZ RACZJM SCHRODERJan De Bleecker

A1 Journal Article in ACTA NEUROPATHOLOGICA

Localization of the alpha-chemokine SDF-1 and its receptor CXCR4 in idiopathic inflammatory myopathies

Boel De PaepeJM SCHRODERJJ MARTINGZ RACZJan De Bleecker

A1 Journal Article in NEUROMUSCULAR DISORDERS

2003

Alpha-chemokines and Th1 mediated inflammation in polymyositis and inclusion body myositis

Jan De BleeckerBoel De PaepeKRISTEL DE KEYZER

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

Localization of Th1 associated chemokines in inflammatory myopathies

Jan De BleeckerBoel De Paepe

Localization of Th1 associated chemokines in inflammatory myopathies

Jan De BleeckerBoel De PaepeK De Keyser

The idiopathic inflammatory myopathies

Jan De BleeckerBoel De Paepe

Bookchapter in Advances in Clinical Neurosciences

2002

Beta chemokines and their receptors in inflammatory myopathies

Jan De BleeckerBoel De PaepeG RaczJM Schröder

CXCR4 chemokine receptor density in inflammatory myopathies

V MEIREJan De BleeckerBoel De PaepeJ SCHRODER

Chemokine receptors in inflammatory myopathy

Boel De PaepeV MEIREG RACZJM SCHRODERJan De Bleecker

Differential expression of chemokines in inflammatory myopathies

Jan De BleeckerBoel De PaepeIRIS VANWALLEGHEMJM Schröder

A1 Journal Article in NEUROLOGY

Differential organ involvement in peroxisomal disorders

Frank RoelsMarianne DepreterMarisa GirosSylvia StocklerHannah MandelD TroostBoel De PaepeJan De BleeckerMarc D'HoogheChristian Nuttin et al.

Expression of MCP-1 and its receptors CCR2 and CCR4 in the inflammatory myopathies

Jan De BleeckerBoel De PaepeJM Schröder

Immunolocalization of the chemokine CXCL12 and its receptor CXCR4 in the inflammatory myopathies

Boel De PaepeJan De BleeckerG RACZJM SCHROEDER

Increased angiotensin II type-2 receptor density in hyperplasia, DCIS and invasive carcinoma of the breast is paralleled with increased iNOS expression

Boel De PaepeValerie VerstraetenChristian De PotterGillian Bullock

A1 Journal Article in HISTOCHEMISTRY AND CELL BIOLOGY

2001

Chemokines in inflammatory myopathies

Jan De BleeckerBoel De PaepeJ SCHRODER

Differential expression of beta-chemokines in inflammatory myopathies

Jan De BleeckerBoel De PaepeJM Schröder

Distribution of type-1 and type-2 angiotensin receptors in the normal human lung and in lungs from patients with chronic obstructive pulmonary disease.

Gillian BullockI STEYAERTG BILBERM CAREYJohan KipsBoel De PaepeRomain PauwelsMarleen PraetHM SIRAGYM DE GASPARO

A1 Journal Article in HISTOCHEMISTRY AND CELL BIOLOGY

Growth stimulatory angiotensin II type-1 receptor is upregulated in breast hyperplasia and in situ carcinoma but not in invasive carcinoma

Boel De PaepeValerie VerstraetenChristian De PotterLuc VakaetGillian Bullock

A1 Journal Article in HISTOCHEMISTRY AND CELL BIOLOGY

2000

Properties of the ventricular adrenergic signal transduction system during ontogeny of spontaneous hypertension in rats.

Ariane BazanERIC VAN DE VELDEBoel De PaepeNorbert Fraeyman

A1 Journal Article in JOURNAL OF CARDIOVASCULAR PHARMACOLOGY