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Onderzoeker
Joél Smet
Profiel
Projecten
Publicaties
Activiteiten
Prijzen & Erkenningen
147
Resultaten
2023
Clinical, biochemical, and histopathological diagnosis of Egyptian paediatric patients with suspected mitochondrial diseases : a hospital-based study
D. M. Abdou
L. A. Selim
Rudy Van Coster
Joél Smet
G. A. Nakhla
D. A. Mehaney
A2
Artikel in een tijdschrift
in
SOUTH AFRICAN JOURNAL OF CHILD HEALTH
2023
Neonatal lactic acidosis explained by LARS2 defect
Boel De Paepe
Joél Smet
Robert Kopajtich
Holger Prokisch
Rudy Van Coster
Arnaud Vanlander
A1
Artikel in een tijdschrift
in
PEDIATRIC RESEARCH
2023
2022
Clinical heterogeneity in MT-ATP6 pathogenic variants : same genotype—different onset
Sara Capiau
Joél Smet
Boel De Paepe
Yilmaz Yildiz
Mutluay Arslan
Olivier Stevens
Maxime Verschoore
Hedwig Stepman
Sara Seneca
Arnaud Vanlander
A1
Artikel in een tijdschrift
in
CELLS
2022
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Vincente A Yépez
Mirjana Gusic
Robert Kopajtich
Christian Mertes
Nicholas H Smith
Charlotte L Alston
Rui Ban
Skadi Beblo
Riccardo Berutti
Holger Blessing
et al.
A1
Artikel in een tijdschrift
in
GENOME MEDICINE
2022
The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival
Shanna Dewaele
Louis Delhaye
Boel De Paepe
Eric de Bony de Lavergne
Jilke De Wilde
Katrien Vanderheyden
Jasper Anckaert
Nurten Yigit
Justine Nuytens
Eveline Vanden Eynde
et al.
A1
Artikel in een tijdschrift
in
ONCOGENE
2022
The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival (Sept, 10.1038/s41388-021-02006-x, 2021)
Shanna Dewaele
Louis Delhaye
Boel De Paepe
Eric James de Bony
Jilke De Wilde
Katrien Vanderheyden
Jasper Anckaert
Nurten Yigit
Justine Nuytens
Eveline Vanden Eynde
et al.
Correctie
2022
2021
A systematic study of a panel of mitochondrial functional testing in fibroblasts shows strong clinical utility
Johan Van Hove
Marisa Friederich
Kaz Knight
Jessica Lee
Roxanne Van Hove
Austin Larson
Michio Hirano
Russel Saneto
Amy Goldstein
Rebecca Ganetzky
et al.
C3
Conferentie
2021
Hoe ontstaan chronische klachten bij patiënten met fibromyalgie? De insula, een hersengebied met een mogelijke sleutelrol
Boel De Paepe
Joél Smet
Chris Baeken
Mira Meeus
Indra De Greef
Arnaud Vanlander
Jessica Van Oosterwijck
A2
Artikel in een tijdschrift
in
HUISARTS NU (BERCHEM)
2021
Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function
Karen Rosier
Molly T. McDevitt
Joél Smet
Brendan J. Floyd
Maxime Verschoore
Maria J. Marcaida
Craig A. Bingman
Irma Lemmens
Matteo Dal Peraro
Jan Tavernier
et al.
A1
Artikel in een tijdschrift
in
ISCIENCE
2021
2020
A capital role for the brain’s insula in the diverse fibromyalgia-associated symptoms
Boel De Paepe
Joél Smet
Chris Baeken
Jessica Van Oosterwijck
Mira Meeus
A1
Artikel in een tijdschrift
in
MEDICAL HYPOTHESES
2020
Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene
George K. Papadimas
Efthimia Vargiami
Pinelopi Dragoumi
Rudy Van Coster
Joél Smet
Sara Seneca
Constantinos Papadopoulos
Evangelia Kararizou
Dimitrios Zafeiriou
A2
Artikel in een tijdschrift
in
ACTA MYOLOGICA (TESTO STAMPATO)
2020
Nanoscopic X-ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients
Björn De Samber
Tom Vanden Berghe
Eline Meul
Stephen Bauters
Martin Seyrich
Joél Smet
Boel De Paepe
Julio Cesar da Silva
Sylvain Bohic
Peter Cloetens
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF SYNCHROTRON RADIATION
2020
2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?
Birgit M Repp
Elisa Mastantuono
Charlotte L Alston
Manuel Schiff
Tobias B Haack
Agnes Rötig
Anna Ardissone
Anne Lombès
Claudia B Catarino
Daria Diodato
et al.
A1
Artikel in een tijdschrift
in
ORPHANET JOURNAL OF RARE DISEASES
2018
Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ
Rudy Van Coster
Joél Smet
Boel De Paepe
Elise Vantroys
Femke Nachtergaele
Sarah Vergult
Björn Menten
Arnaud Vanlander
François-Guillaume Debray
C3
Conferentie
2018
Cyclic vomiting in a subject with homoplasmic m.14674T>C alteration
Elise Vantroys
Boel De Paepe
Joél Smet
Femke Nachtergaele
Sara Seneca
Arnaud Vanlander
Rudy Van Coster
C3
Conferentie
2018
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT
Dimitri Hemelsoet
Arnaud Vanlander
Joél Smet
Elise Vantroys
Marjan Acou
Ingeborg Goethals
Tom Sante
Sara Seneca
Björn Menten
Rudy Van Coster
A1
Artikel in een tijdschrift
in
NEUROLOGY-GENETICS
2018
Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich's ataxia fibroblasts
Björn De Samber
Eline Meul
Brecht Laforce
Boel De Paepe
Joél Smet
Michiel De Bruyne
Riet De Rycke
Sylvain Bohic
Peter Cloetens
Rudy Van Coster
et al.
A1
Artikel in een tijdschrift
in
PLOS ONE
2018
New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders
Kaz Knight
Marisa W Friederich
Rudy Van Coster
Joél Smet
Elise Vantroys
Michio Hirano
Amy Goldstein
Johan LK Van Hove
C3
Conferentie
2018
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
Elise Vantroys
Joél Smet
Arnaud Vanlander
Sarah Vergult
Ruth De Bruyne
Frank Roels
Hedwig Stepman
Herbert Roeyers
Björn Menten
Rudy Van Coster
A1
Artikel in een tijdschrift
in
ORPHANET JOURNAL OF RARE DISEASES
2018
The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy
Arnaud Vanlander
Helene Verhelst
Elise Vantroys
Joél Smet
Boel De Paepe
Sarah Vergult
Björn Menten
Rudy Van Coster
C3
Conferentie
2018
Tigecycline-induced inhibition of mitochondrial DNA translation may cause lethal mitochondrial dysfunction in humans
S. J. Vandecasteele
S. Seneca
Joél Smet
M. Reynders
J. De Ceulaer
Arnaud Vanlander
Rudy Van Coster
A1
Artikel in een tijdschrift
in
CLINICAL MICROBIOLOGY AND INFECTION
2018
2017
New insights into the phenotype of FARS2 deficiency
Elise Vantroys
Austin Larson
Marisa Friederich
Kaz Knight
Michael A Swanson
Christopher A Powell
Joél Smet
Sarah Vergult
Boel De Paepe
Sara Seneca
et al.
A1
Artikel in een tijdschrift
in
MOLECULAR GENETICS AND METABOLISM
2017
2016
Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype
Charlotte L Alston
Alison G Compton
Luke E Formosa
Valentina Strecker
Monika Oláhová
Tobias B Haack
Joél Smet
Katrien Stouffs
Peter Diakumis
Elżbieta Ciara
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2016
Clinical, biochemical and genetic spectrum of mitochondrial disorders in Egyptian children : a study of 19 cases
LA Selim
D Mehaney
Rudy Van Coster
SA Hassan
IG Mahmoud
AI El Badawy
Arnaud Vanlander
Joél Smet
Elien De Latter
Katrien Vandemeulebroecke
et al.
C3
Conferentie
2016
Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses
Arnaud Vanlander
Laura Muiño Mosquera
Joseph Panzer
Tine Deconinck
Joél Smet
Sara Seneca
Jo Van Dorpe
Liesbeth Ferdinande
Chantal Ceuterick-de Groote
Peter De Jonghe
et al.
A1
Artikel in een tijdschrift
in
MITOCHONDRION
2016
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 Vantroys
Joél Smet
Arnaud Vanlander
Boel De Paepe
Sarah Vergult
Tom Sante
Björn Menten
Rudy Van Coster
C3
Conferentie
2016
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 Vantroys
Joél Smet
Arnaud Vanlander
Boel De Paepe
Sarah Vergult
Tom Sante
Björn Menten
Rudy Van Coster
C3
Conferentie
2016
Pathogenic mutations in TMEM126b, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families
Rudy Van Coster
Joél Smet
Boel De Paepe
Arnaud Vanlander
Elise Vantroys
C Alston
A Compton
D Torburn
S Seneca
R Taylor
C3
Conferentie
2016
RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome
FILOMEEN HAERYNCK
PATRICK VERLOO
Delfien Bogaert
Joél Smet
Arnaud Vanlander
Victoria Bordon Maria
Helene Verhelst
Rudy Van Coster
Björn Menten
Melissa Dullaers
C3
Conferentie
2016
Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2
PATRICK VERLOO
Joél Smet
Elise Vantroys
Arnaud Vanlander
Sarah Vergult
Tom Sante
Björn Menten
Rudy Van Coster
C3
Conferentie
2016
2015
A new pathogenic mutation in the iron-sulfur cluster assembly gene IBA57 causes impaired protein function leading to massive early leukoencephalopathy
Guillaume Debray
Claudia Stumpfig
Arnaud Vanlander
Joél Smet
V Dideberg
C Josse
JH Caberg
F Boemer
V Bours
R Stevens
et al.
C3
Conferentie
2015
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
Sara Seneca
Kim Vancampenhout
Rudy Van Coster
Joél Smet
Willy Lissens
Arnaud Vanlander
Boel De Paepe
An Jonckheere
Katrien Stouffs
Linda De Meirleir
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF HUMAN GENETICS
2015
Clinical, biochemical and genetic spectrum of mitochondrial disorders in Egyptian children : a study of 17 cases
Laila Selim
Dina Mehaney
Rudy Van Coster
Sawsan Abdel Hadi
Iman Gamal
Mariane Youssry
Amira El Badawya
Arnaud Vanlander
Joél Smet
Elien De Latter
et al.
C3
Conferentie
2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
Uwe Ahting
Johannes A Mayr
Arnaud Vanlander
Steven A Hardy
Saikat Santra
Christine Makowski
Charlotte L Alston
Franz A Zimmermann
Lucia Abela
Barbara Plecko
et al.
A1
Artikel in een tijdschrift
in
FRONTIERS IN GENETICS
2015
Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions
Claudine De Praeter
Arnaud Vanlander
Piet Vanhaesebrouck
Joél Smet
Sara Seneca
Petra De Sutter
Rudy Van Coster
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF PEDIATRICS
2015
Forearm deoxyhemoglobin and deoxymyoglobin (deoxy[Hb + Mb]) measured by near-infrared spectroscopy (NIRS) using a handgrip test in mitochondrial myopathy
Bert Celie
Jan Boone
Joél Smet
Arnaud Vanlander
Jan De Bleecker
Rudy Van Coster
Jan Bourgois
A1
Artikel in een tijdschrift
in
APPLIED SPECTROSCOPY
2015
Lipomas : an unexpected phenotype of mitochondrial DNA mutations
Joél Smet
Arnaud Vanlander
David Creytens
B Lengelé
N Revencu
S Seneca
Rudy Van Coster
C3
Conferentie
2015
Mitochondria in peroxisome-deficient hepatocytes exhibit impaired respiration, depleted DNA, and PGC-1α independent proliferation
Annelies Peeters
Abhijit Babaji Shinde
Ruud Dirckx
Joél Smet
Katrien De Bock
Marc Espeel
Ilse Vanhorebeek
Arnaud Vanlander
Rudy Van Coster
Peter Carmeliet
et al.
A1
Artikel in een tijdschrift
in
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
2015
Multiple symmetrical lipomatosis: an uncommon presentation of a mitochondrial disease
Rudy Van Coster
Joél Smet
Arnaud Vanlander
B Lengelé
S Seneca
N Revencu
C3
Conferentie
2015
Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy
François-Guillaume Debray
Claudia Stümpfig
Arnaud Vanlander
Vinciane Dideberg
Claire Josse
Jean-Hubert Caberg
François Boemer
Vincent Bours
René Stevens
Sara Seneca
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF INHERITED METABOLIC DISEASE
2015
Possible pathogenic mechanism of propofol infusion syndrome involves coenzyme Q
Arnaud Vanlander
Juergen Guenther Okun
ANNIK DE JAEGER
Joél Smet
Elien De Latter
Boel De Paepe
Georges Dacremont
Brigitte Wuyts
Bert Vanheel
Peter De Paepe
et al.
A1
Artikel in een tijdschrift
in
ANESTHESIOLOGY
2015
TMEM70 deficiency: long-term outcome of 48 patients
Martin Magner
Veronika Dvorakova
Marketa Tesarova
Stella Mazurova
Hana Hansikova
Martin Zahorec
Katarina Brennerova
Vladimir Bzduch
Ronen Spiegel
Yoseph Horovitz
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF INHERITED METABOLIC DISEASE
2015
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)
Arnaud Vanlander
Björn Menten
Joél Smet
Linda De Meirleir
Tom Sante
Boel De Paepe
Sara Seneca
Sarah F Pearce
Christopher A Powell
Sarah Vergult
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2015
2014
A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome
Kim Vancampenhout
Ben Caljon
Claudia Spits
Katrien Stouffs
An Jonckheere
Linda De Meirleir
Willy Lissens
Arnaud Vanlander
Joél Smet
Boel De Paepe
et al.
A1
Artikel in een tijdschrift
in
PLOS ONE
2014
Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
Julie Harvengt
Catherine Wanty
Boel De Paepe
Christine Sempoux
Nicole Revencu
Joél Smet
Rudy Van Coster
Willy Lissens
Sara Seneca
Laurent Weekers
et al.
A2
Artikel in een tijdschrift
in
MOLECULAR GENETICS AND METABOLISM REPORTS
2014
Did lightning strike twice?
Sara Seneca
E Fosselle
Jan De Bleecker
Kim Vancampenhout
Willy Lissens
K Stouffs
A Jonckheere
Rudy Van Coster
Joél Smet
Boel De Paepe
et al.
C3
Conferentie
2014
Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects
Boel De Paepe
Katrien Vandemeulebroecke
Joél Smet
Arnaud Vanlander
Sara Seneca
Willy Lissens
Johan LK Van Hove
Ellen Deschepper
Paz Briones
Rudy Van Coster
A1
Artikel in een tijdschrift
in
PHYTOTHERAPY RESEARCH
2014
Forearm muscle oxygenation responses during and following arterial occlusion in patients with mitochondrial myopathy
Jan Boone
Bert Celie
Jasmien Dumortier
Thomas J Barstow
Jan De Bleecker
Joél Smet
Arnaud Vanlander
Rudy Van Coster
Jan Bourgois
A1
Artikel in een tijdschrift
in
RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY
2014
Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene
François-Guillaume Debray
Sara Seneca
Michel Gonce
Kim Vancampenhaut
Elettra Bianchi
François Boemer
Laurent Weekers
Joél Smet
Rudy Van Coster
A1
Artikel in een tijdschrift
in
MITOCHONDRION
2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
Robert Kopajtich
Thomas J Nicholls
Joanna Rorbach
Metodi D Metodiev
Peter Freisinger
Hanna Mandel
Arnaud Vanlander
Daniele Ghezzi
Rosalba Carrozzo
Robert W Taylor
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2014
Two siblings with myopathy, mild mental retardation and combined OXPHOS deficiencies caused by a mutation in the gene encoding asparaginyl tRNA synthetase, NARS2
Arnaud Vanlander
M Minczuk
Tom Sante
Joél Smet
Boel De Paepe
Linda De Meirleir
Björn Menten
Rudy Van Coster
C3
Conferentie
2014
Ullrich congenital muscular dystrophy: a new cellular study on cultured skin fibroblasts
Nicolas Deconinck
Boel De Paepe
Sofie Symoens
Arnaud Vanlander
C Gartioux
Valerie Allamand
Joél Smet
Bart Devreese
Rudy Van Coster
C3
Conferentie
2014
2013
A homozygous mutation in IBA57 involved in intramitochondrial iron-sulfur cluster synthesis causes severe encephalopathy and mypathy in two neonates
Arnaud Vanlander
Claudia Willbrecht
Nikhita Ajit Bolar
Joél Smet
Boel De Paepe
Elien De Latter
Lut Van Laer
Bart Loeys
Roland Lill
Rudy Van Coster
C3
Conferentie
2013
A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms
Carter D Wray
Marisa W Friederich
Desiree du Sart
Sarah Pantaleo
Joél Smet
Cathlin Kucera
Laura Fenton
Gunter Scharer
Rudy Van Coster
Johan LK Van Hove
A1
Artikel in een tijdschrift
in
MITOCHONDRION
2013
A novel compound heterozygous mutation in NFU1 as cause of iron-sulfur cluster biosynthesis
Rudy Van Coster
Joél Smet
Boel De Paepe
Arnaud Vanlander
Elien De Latter
Linda De Meirleir
Willy Lissens
Sara Seneca
C3
Conferentie
2013
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 Scalais
Ronit Chafai
Rudy Van Coster
Lutz Bindl
Christian Nuttin
Chryssa Panagiotaraki
Sara Seneca
Willy Lissens
Antonia Ribes
Caroline Geers
et al.
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
2013
Fatal outcome of iron-sulfur cluster scaffold NFU1 gene mutations in a neonatal patient
Sara Seneca
Joél Smet
Arnaud Vanlander
Rudy Van Coster
D Roland
Boel De Paepe
Willy Lissens
M Bonduelle
Linda De Meirleir
C3
Conferentie
2013
Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy
N Ajit Bolar
Arnaud Vanlander
C Wilbrecht
Nathalie Van der Aa
Joél Smet
Boel De Paepe
G Vandeweyer
F Kooy
François Eyskens
Elien De Latter
et al.
C3
Conferentie
2013
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
Nikhita Ajit Bolar
Arnaud Vanlander
Claudia Wilbrecht
Nathalie Van der Aa
Joél Smet
Boel De Paepe
Geert Vandeweyer
Frank Kooy
François Eyskens
Elien De Latter
et al.
A1
Artikel in een tijdschrift
in
HUMAN MOLECULAR GENETICS
2013
Succinyl-CoA ligase deficiency : report on the first patient resulting from a combined defect in SUGL1 an SUGL2 genes
DI Zafeiriou
S Batzios
E Vargiami
M Willemsen
E Morava
L Van den Heuvel
Joél Smet
Rudy Van Coster
S Seneca
R Wanders
et al.
C3
Conferentie
2013
Unraveling the mechanisms behind the enhanced MTT conversion by irradiated breast cancer cells
Stéphanie Blockhuys
Barbara Vanhoecke
Joél Smet
Boel De Paepe
Rudy Van Coster
Marc Bracke
Carlos De Wagter
A1
Artikel in een tijdschrift
in
RADIATION RESEARCH
2013
2012
A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome
C Vilain
C Rens
A Aeby
D Balériaux
P Van Bogaert
G Remiche
Joél Smet
Rudy Van Coster
M Abramowicz
I Pirson
A1
Artikel in een tijdschrift
in
CLINICAL GENETICS
2012
Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for detection of oxidative phosphorylation defects
Boel De Paepe
Joél Smet
Arnaud Vanlander
Sara Seneca
Willy Lissens
Linda De Meirleir
Mado Vandewoestyne
Dieter Deforce
Richard J Rodenburg
Rudy Van Coster
A1
Artikel in een tijdschrift
in
PEDIATRIC RESEARCH
2012
Forearm deoxygenation measured by Nirs during a new handgrip exercise protocol in patients with mitochondrial myopathy
Bert Celie
Jan Boone
Joél Smet
Jan De Bleecker
Rudy Van Coster
Jan Bourgois
C3
Conferentie
2012
Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome
Arnaud Vanlander
PG Jorens
Joél Smet
Boel De Paepe
W Verbrugghe
GG Van den Eynden
F Meire
P Pauwels
N Van der Aa
S Seneca
et al.
A1
Artikel in een tijdschrift
in
ACTA ANAESTHESIOLOGICA SCANDINAVICA
2012
Mitochondrial cardiotoxicity of a prototype HCV NS3-protease inhibitor is characterized by a specific electrocardiographic signature in mice
Thomas Vanwolleghem
Eva Van Braeckel
Joél Smet
Bi-Sheng Liu
Philip Meuleman
Harry L Janssen
Tania Roskams
Rudy Van Coster
Rita De Vos
Geert Leroux-Roels
C3
Conferentie
2012
Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms
Silke Mussche
Boel De Paepe
Joél Smet
Katrien Devreese
Willy Lissens
Vedrana Milic Rasic
Matthew Murnane
Bart Devreese
Rudy Van Coster
A1
Artikel in een tijdschrift
in
MUSCLE & NERVE
2012
Proteomic analysis of cultured skin fibroblasts from UCMD patients reveals the involvement of two new cellular pathways
N Deconinck
Silke Mussche
Boel De Paepe
C Gartioux
V Allamand
P Richard
Joél Smet
Bart Devreese
Rudy Van Coster
C3
Conferentie
2012
2011
ATP synthase deficiency: a diagnostic strategy for not such an uncommon cause of OXPHOS dysfunction
Rudy Van Coster
Joél Smet
Boel De Paepe
Sara Seneca
Linda De Meirleir
Luc Regal
A Evangeliou
Willy Lissens
C3
Conferentie
2011
Analysis of the giant axonal neuropathy fibroblasts proteome
Rudy Van Coster
Silke Mussche
Boel De Paepe
Joél Smet
Willy Lissens
V Rasic
Bart Devreese
C3
Conferentie
2011
Complex III staining in blue native polyacrylamide gels
Joél Smet
Boel De Paepe
Sara Seneca
Willy Lissens
Heike Kotarsky
Linda De Meirleir
Vineta Fellman
Rudy Van Coster
A1
Artikel in een tijdschrift
in
JOURNAL OF INHERITED METABOLIC DISEASE
2011
JC-1-based fluorescence to evaluate oxidative phosphorylation defects generates both qualitative and quantitative information
Boel De Paepe
Joél Smet
Sara Seneca
Willy Lissens
Linda De Meirleir
Mado Vandewoestyne
Dieter Deforce
Silke Mussche
Emmanuel Scalais
Rudy Van Coster
C3
Conferentie
2011
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 Westhuizen
Joél Smet
Oksana Levanets
Madelein Meissner-Roloff
Roan Louw
Rudy Van Coster
Izelle Smuts
A1
Artikel in een tijdschrift
in
JOURNAL OF INHERITED METABOLIC DISEASE
2010
Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation
Heike Kotarsky
Riitta Karikoski
Matthias Morgelin
Sanna Marjavaara
Petra Bergman
De-Liang Zhang
Joél Smet
Rudy Van Coster
Vineta Fellman
A1
Artikel in een tijdschrift
in
MITOCHONDRION
2010
Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model
Ann Meulemans
Sara Seneca
Thomas Pribyl
Joél Smet
Valerie Alderweirldt
Anouk Waeytens
Willy Lissens
Rudy Van Coster
Linda De Meirleir
Jean-Paul di Rago
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF BIOLOGICAL CHEMISTRY
2010
Deleterious mutations in RRM2B result in severe reduction of mtDNA content in skeletal muscle
Rudy Van Coster
Joél Smet
Boel De Paepe
Willy Lissens
Linda De Meirleir
Sara Seneca
C3
Conferentie
2010
Deleterious mutations in RRM2B, a gene responsible for maintenance of mtDNA, result in severe reduction of mtDNA content in skeletal muscle
Rudy Van Coster
Joél Smet
Boel De Paepe
Willy Lissens
Linda De Meirleir
Sara Seneca
C3
Conferentie
2010
Mutations in TMEM70 causes severe encephalocardiomyopathy as well as mild encephalopathy
Rudy Van Coster
Joél Smet
Willy Lissens
Boel De Paepe
Sara Seneca
Linda De Meirleir
Martha Spilioti
Fitsioris Xenophon
Athanasios Evangeliou
C3
Conferentie
2010
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 Coster
Joél Smet
Willy Lissens
Boel De Paepe
Sara Seneca
Linda De Meirleir
Martha Spilioti
Fitsioris Xenophon
Athanasios Evangeliou
C3
Conferentie
2010
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T > C
Bart Dermaut
S Seneca
L Dom
K Smets
L Ceulemans
Joél Smet
Boel De Paepe
S Tousseyn
S Weckhuysen
M Gewillig
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
2010
2009
ACUTE RHABDOMYOLYSIS IN YOUNG CHILDREN DUE TO MUTATIONS IN THE LPIN1 GENE
LJ De Meirleir
PATRICK VERLOO
Rudy Van Coster
Joél Smet
B Wuyts
L Huber
P Delonlay
C3
Conferentie
2009
Abdominal pain and vomiting as first sign of mitochondrial disease
Stephanie Van Biervliet
PATRICK VERLOO
Saskia Vande Velde
Myriam Van Winckel
Joél Smet
S Seneca
L De Meirleir
Rudy Van Coster
A1
Artikel in een tijdschrift
in
ACTA GASTRO-ENTEROLOGICA BELGICA
2009
Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects
Boel De Paepe
Joél Smet
M Lammens
S Seneca
JJ Martin
Jan De Bleecker
L De Meirleir
W Lissens
Rudy Van Coster
A1
Artikel in een tijdschrift
in
JOURNAL OF CLINICAL PATHOLOGY
2009
Lactic Acidosis in a Newborn With Adrenal Calcifications
Aleksandra Zecic
Joél Smet
Claudine De Praeter
Piet Vanhaesebrouck
Carlo Viscomi
Caroline Van den Broecke
Boel De Paepe
Peter Lohse
Jean-Jacques Martin
Joshua Jackson
et al.
A1
Artikel in een tijdschrift
in
PEDIATRIC RESEARCH
2009
MECHANISM OF LACTIC ACIDOSIS IN PATIENTS WITH THE PROPOFOL INFUSION SYNDROME (PRIS)
Rudy Van Coster
Arnaud Vanlander
Joél Smet
Helene Verhelst
PATRICK VERLOO
ANNIK DE JAEGER
C3
Conferentie
2009
MITOCHONDRIAL ABNORMALITIES IN A NEWBORN WITH LACTIC ACIDOSIS AND ADRENAL CALCIFICATIONS
Rudy Van Coster
Joél Smet
PATRICK VERLOO
Piet Vanhaesebrouck
C Viscomi
Caroline Van den Broecke
Boel De Paepe
L De Meirleir
M Zeviani
S Seneca
et al.
C3
Conferentie
2009
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects
Frank Roels
PATRICK VERLOO
François Eyskens
Baudouin François
Sara Seneca
Boel De Paepe
Jean-Jacques Martin
VALERIE MEERSSCHAUT
Marleen Praet
Emmanuel Scalais
et al.
A2
Artikel in een tijdschrift
in
BMC Clinical Pathology
2009
ORGANIC ACIDURIA AND LATE ONSET OPTIC ATROPHY
LJ De Meirleir
P Goyens
PATRICK VERLOO
Joél Smet
M Vandriessche
K Corthouts
Bart Leroy
Rudy Van Coster
C3
Conferentie
2009
PATHOPHYSIOLOGY OF PROPOFOL INFUSION SYNDROME (PRIS)
Arnaud Vanlander
ANNIK DE JAEGER
Joél Smet
Rudy Van Coster
C3
Conferentie
2009
Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function
VA Morais
P Verstreken
A Roethig
Joél Smet
A Snellinx
M Vanbrabant
D Haddad
C Frezza
W Mandemakers
D Vogt-Weisenhorn
et al.
A1
Artikel in een tijdschrift
in
EMBO MOLECULAR MEDICINE
2009
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to the m.14487T>C mutation in ND6
Sara Seneca
Bart Dermaut
Patrick Santens
Lina Dom
Katrien Smets
Luc Ceulemans
Joél Smet
Boel De Paepe
Simon Tousseyn
Sarah Weckhuysen
et al.
C3
Conferentie
2009
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
Joél Smet
Sara Seneca
Boel De Paepe
Ann Meulemans
Helene Verhelst
Juliaan Leroy
Linda De Meirleir
Willy Lissens
Rudy Van Coster
A1
Artikel in een tijdschrift
in
ELECTROPHORESIS
2009
2008
Immunostaining technniques in patients with mtDNA depletion
Rudy Van Coster
Boel De Paepe
Joél Smet
S SENECA
W LISSENS
L DE MEIRLEIR
Frank Roels
C3
Conferentie
2008
Mitochondrial proliferation and abnormalities of the inner mitochondrial membrane in peroxisome deficient hepatocytes
A. Peeters
R. Dirkx
K. Martens
Joél Smet
Rudy Van Coster
P. Van Veldhoven
M. Baes
C3
Conferentie
2008
N-acetylamino aciduria: A benign biochemical finding!
J. Calvin
R.A. Wevers
U. Engelke
W. Lissens
J. Perrier
T. Giardina
Joél Smet
S. Hogg
L. Abulhoul
V. Puthi
et al.
C3
Conferentie
2008
Role of BN-page in the diagnosis of mitochondrial DNA depletion
Rudy Van Coster
Joél Smet
Boel De Paepe
S SENECA
W LISSENS
L DE MEIRLEIR
C3
Conferentie
2008
S100B Expression in forensic brain trauma fatalities: a valuable tool?
Els De Letter
Marc Espeel
Frederik Berlengee
Christophe Ampe
Joél Smet
Rudy Van Coster
Michel Piette
C3
Conferentie
2008
2007
A new family with the mitochondrial tRNAGLU gene mutation m.14709T > C presenting with hydrops fetalis
Ann Meulemans
Sara Seneca
Joél Smet
Boel De Paepe
Willy Lissens
Rudy Van Coster
Anne Debeer
Linda De Meirleir
Jaak Jaeken
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
2007
ATP synthase subcomplexes are the hallmark of a defective intramitochondrial protein translation
Rudy Van Coster
Joél Smet
Boel De Paepe
S SENECA
A MEULEMANS
W LISSENS
L DE MEIRLEIR
C3
Conferentie
2007
Detection of complex III deficient patients using a novel activity staining method in the BN-page gel
Rudy Van Coster
Joél Smet
Boel De Paepe
S Seneca
A Meulemans
W Lissens
H Kotarsky
L De Meirleir
V Fellman
C3
Conferentie
2007
Ethylmalonic encephalopathy: Clinical and biochemical observations
DI ZAFEIRIOU
P AUGOUSTIDES-SAVVOPOULOU
D HAAS
Joél Smet
P TRIANTAFYLOU
E VARGIAMI
M TARNIOLAKI
N GORNBAKIS
Rudy Van Coster
AC SEWELL
et al.
A1
Artikel in een tijdschrift
in
NEUROPEDIATRICS
2007
Immunohistochemical studies of oxidative phosphorylation in skeletal muscle of patients with mitochondrial tRNA gene mutations
Boel De Paepe
Joél Smet
Martin Lammens
S SENECA
J MARTIN
Jan De Bleecker
Rudy Van Coster
C3
Conferentie
2007
Infantile presentation of the mitochondrial A8344G mutation.
E SCALAIS
C NUTTIN
S SENECA
Joél Smet
Boel De Paepe
J MARTIN
R STEVENS
F PIERART
O BATTISTI
W LISSENS
et al.
A2
Artikel in een tijdschrift
in
European journal of neurology
2007
Mitochondrial aspartyl-tRNA synthetase deficiency causes "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
M VAN DER KNAAP
J PRONK
Rudy Van Coster
C FLORENTZ
Joél Smet
M SISSLER
T VAN DER KLOK
G SCHEPER
C3
Conferentie
2007
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
GC SCHEPER
T VAN DER KLOK
RJ VAN ANDEL
CGM VAN BERKEL
M SISSLER
Joél Smet
TI MURAVINA
SV SERKOV
G UZIEL
M BUGIANI
et al.
A1
Artikel in een tijdschrift
in
NATURE GENETICS
2007
The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders
A MEULEMANS
E GERLO
S SENECA
W LISSENS
Joél Smet
Rudy Van Coster
L DE MEIRLEIR
A1
Artikel in een tijdschrift
in
ACTA NEUROLOGICA BELGICA
2007
The evaluation of complex III activity using a novel in-gel activity staining method
Joél Smet
Boel De Paepe
S SARA
A MEULEMANS
W LISSENS
H KOTARSKY
L DE MEIRLEIR
V FELLMAN
Rudy Van Coster
C3
Conferentie
2007
The presence of complex V subcomplexes in patients with defective intramitochondrial protein translation
Rudy Van Coster
Joél Smet
Boel De Paepe
S SENECA
A MEULEMANS
W LISSENS
L DE MEIRLEIR
C3
Conferentie
2007
The presence of complex V subcomplexes in patients with defective intramitochondrial protein translation.
Rudy Van Coster
Joél Smet
Boel De Paepe
S SENECA
A MEULEMANS
W LISSENS
L DE MEIRLEIR
C3
Conferentie
2007
Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy
A MEULEMANS
Boel De Paepe
Jan De Bleecker
Joél Smet
W LISSENS
Rudy Van Coster
L DE MEIRLEIR
S SENECA
A1
Artikel in een tijdschrift
in
ARCHIVES OF NEUROLOGY
2007
Visualizing oxidative phosphorylation defects in skeletal muscle of patients with mitochondrial tRNA gene mutations using immunohistochemistry
Rudy Van Coster
Boel De Paepe
Joél Smet
Martin Lammens
J MARTIN
Jan De Bleecker
S SENECA
W LISSENS
L DE MEIRLEIR
C3
Conferentie
2007
2006
A novel mitochondrial tRNA Asn mutation causing multi-organ failure
A Meulemans
S Seneca
L Lagae
W Lissens
Boel De Paepe
Joél Smet
Rudy Van Coster
L De Meirleir
C3
Conferentie
2006
A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure
Ann Meulemans
Sara Seneca
Lieven Lagae
Willy Lissens
Boel De Paepe
Joél Smet
Rudy Van Coster
Linda De Meirleir
A1
Artikel in een tijdschrift
in
ARCHIVES OF NEUROLOGY
2006
A systems biology strategy reveals biological pathways and plasma biomarker candidates for potentially toxic statin-induced changes in muscle
Reijo Laaksonen
Mikko Katajamaa
Hannu Paiva
Marko Sysi-Aho
Lilli Saarinen
Paivi Junni
Dieter Lutjohann
Joél Smet
Rudy Van Coster
Tuulikki Seppanen-Laakso
et al.
A1
Artikel in een tijdschrift
in
PLOS ONE
2006
Aminoacylase I deficiency: a new inborn error of metabolism located in the protein degradation pathway of N-acetylated proeteins
Rudy Van Coster
E GERLO
J PERRIER
Joél Smet
Claudine De Praeter
L DE MEIRLEIR
T GIARDINA
W LISSENS
C1
Conferentie
2006
Butylated hydroxyanisole is more than a reactive oxygen species scavenger
Nele Festjens
Michaël Kalai
Joél Smet
Ann Meeus
Rudy Van Coster
Xavier Saelens
Peter Vandenabeele
A1
Artikel in een tijdschrift
in
CELL DEATH AND DIFFERENTIATION
2006
Complex V subcomplexes detected by BN PAGE are a sign of a defective intramitochondrial protein translation
Rudy Van Coster
Joél Smet
Boel De Paepe
S Seneca
A Meulemans
W Lissens
L De Meirleir
C3
Conferentie
2006
Complex V subcomplexes suggestive of a defective intramitochondrial protein translation
Rudy Van Coster
Joél Smet
Boel De Paepe
S Seneca
A Meulemans
W Lissens
L De Meirleir
C3
Conferentie
2006
Complex V subcomplexes suggestive of a defective intramitochondrial protein translation.
Rudy Van Coster
Joél Smet
Boel De Paepe
S SENECA
A MEULEMANS
W LISSENS
L DE MEIRLEIR
C3
Conferentie
2006
Deficiency of mitochondrial ATP synthase of nuclear genetic origin
W SPERL
P JESINA
J ZEMAN
JA MAYR
L DEMEIRLEIR
Rudy Van Coster
A PICKOVA
H HANSIKOVA
H HOUST'KOVA
Z KREJCIK
et al.
A1
Artikel in een tijdschrift
in
NEUROMUSCULAR DISORDERS
2006
Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects
Boel De Paepe
Joél Smet
Juliaan Leroy
S Seneca
Edith George
Dirk Matthys
L Van Maldergem
E Scalais
W Lissens
L De Meirleir
et al.
A1
Artikel in een tijdschrift
in
PEDIATRIC RESEARCH
2006
Diagnostics in mitochondrial diseases: the need of collaboration between clinician and research laboratories.
Rudy Van Coster
S SENECA
Joél Smet
W LISSENS
J JAEKEN
M NASSOGNE
A MEULEMANS
L DE MEIRLEIR
C3
Conferentie
2006
Linezolid-induced inhibition of mitochondrial protein synthesis
Rudy Van Coster
Joél Smet
Sara Seneca
Andrew Lovering
Lindsey Van Haute
Ludo Vanopdenbosch
Jean-Jacques Martin
Chantal Ceuterick-de Groote
Stefaan Vandecasteele
Johan Boelaert
et al.
C3
Conferentie
2006
Linezolid-induced inhibition of mitochondrial protein synthesis
An De Vriese
Rudy Van Coster
Joél Smet
S SENECA
A LOVERING
LL VAN HAUTE
LJ VANOPDENBOSCH
JJ MARTIN
C CEUTERICK-DE GROOTE
S VANDECASTEELE
et al.
A1
Artikel in een tijdschrift
in
CLINICAL INFECTIOUS DISEASES
2006
Mitochondrial mosaics in the liver of patients with Pearson and Alpers-Huttenlocher syndromes
Frank Roels
PATRICK VERLOO
S SENECA
VALERIE MEERSSCHAUT
F EYSKENS
Joél Smet
JJ MARTIN
Marleen Praet
Rudy Van Coster
C3
Conferentie
2006
2005
A mitochondrial tRNA Aspartate mutation causing isolated mitochondrial myopathy
S SENECA
N GOEMANS
Rudy Van Coster
P GIVRON
T REYBROUCK
R SCIOT
A MEULEMANS
Joél Smet
JLK VAN HOVE
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2005
Aminoacylase I deficiency: A novel inborn error of metabolism
Rudy Van Coster
EA GERLO
TG GIARDINA
UF ENGELKE
Joél Smet
Claudine De Praeter
VALERIE MEERSSCHAUT
LJ DE MEIRLEIR
SH SENECA
Bart Devreese
et al.
A1
Artikel in een tijdschrift
in
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
2005
An infant with large amounts of several N-acetylated amino acids in the urine has aminoacylase 1 deficiency.
Rudy Van Coster
W LISSENS
T GIARDINA
U ENGELKE
Joél Smet
Claudine De Praeter
S HERGA
R WEVERS
E GERLO
C3
Conferentie
2005
Denaturating high performance liquid chromatography, a rapid mutation screening technique for the entire mitochondrial genome.
A MEULEMANS
S SENECA
W LISSENS
Rudy Van Coster
J JAEKEN
Joél Smet
Boel De Paepe
L DE MEIRLEIR
C3
Conferentie
2005
Diagnostics in mitochondrial diseases: The need of collaboration between clinician and research laboratorie.
L DE MEIRLEIR
S SENECA
Joél Smet
W LISSENS
J JAEKEN
M NASSOGNE
A MEULEMANS
Rudy Van Coster
C3
Conferentie
2005
High dose statins and skeletal muscle metabolism in man: A randomized controlled trial.
Rudy Van Coster
Joél Smet
Boel De Paepe
H PAIVA
K THELEN
K MATTILA
J LAAKSO
T LEHTIMAKI
K VON BERGMANN
D LUTJOHANN
et al.
C3
Conferentie
2005
High dose statins and skeletal muscle metabolism in man: A randomized controlled trial.
Rudy Van Coster
Joél Smet
Boel De Paepe
H PAIVA
K THELEN
K MATTILA
J LAAKSO
T LEHTIMAKI
K VON BERGMANN
D LUTJOHANN
et al.
C3
Conferentie
2005
High-dose statins and skeletal muscle metabolism in humans: A randomized, controlled trial
H PAIVA
KM THELEN
Rudy Van Coster
Joél Smet
Boel De Paepe
KM MATTILA
J LAAKSO
T LEHTIMAKI
K VON BERGMANN
D LUTJOHANN
et al.
A1
Artikel in een tijdschrift
in
CLINICAL PHARMACOLOGY & THERAPEUTICS
2005
Immunocytochemical staining of cultured fibroblasts is a valuable first line screening test for oxidative phosphorylation defects.
Boel De Paepe
Joél Smet
Juliaan Leroy
S SENECA
Edith George
Dirk Matthys
L VAN MALDERGEM
E SCALAIS
W LISSENS
L DE MEIRLEIR
et al.
C3
Conferentie
2005
Immunocytochemiscal staining of cultured fibroblasts is available first line screening test for oxidative phosphorylation.
Boel De Paepe
Joél Smet
Juliaan Leroy
S SENECA
Edith George
Dirk Matthys
L VAN MALDERGEM
E SCALAIS
W LISSENS
L DE MEIRLEIR
et al.
C3
Conferentie
2005
Isolated defects of mitochondrial ATP synthase: overview of 15 cases.
W SPERL
P JESINA
J ZEMAN
J MAYR
Rudy Van Coster
Joél Smet
J HOUSTEK
C3
Conferentie
2005
Nondenaturing polyacrylamide gel electrophoresis as a method for studying protein interactions: applications in the analysis of mitochondrial OXPHOS complexes
Joél Smet
Bart Devreese
Jozef Van Beeumen
Rudy Van Coster
Hoofdstuk in een boek
in
Cell biology : a laboratory handbook
2005
is livertransplantation indicated in metabolic disorders with neurological involvement? two case reports
PATRICK VERLOO
L DE MEIRLEIR
Rudy Van Coster
S SENECA
Joél Smet
Stephanie Van Biervliet
Myriam Van Winckel
C3
Conferentie
2005
2004
Analysis of the mitochondrial encoded subunits of complex 1 in 20 patients with a complex 1 deficiency
A MEULEMANS
W LISSENS
Rudy Van Coster
L DE MEIRLEIR
Joél Smet
MC NASSOGNE
I LIEBAERS
S SENECA
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
2004
Auto-immune disorders of cerebral white matter in children
Helene Verhelst
Joél Smet
Goedele Dhondt
M SENEPART
Rudy Van Coster
A1
Artikel in een tijdschrift
in
ACTA NEUROLOGICA BELGICA
2004
No evidence for involvement of SDHD in neuroblastoma pathogenesis
Katleen De Preter
Jo Vandesompele
Jasmien Hoebeeck
Caroline Vandenbroecke
Joél Smet
Annick Nuyts
Genevieve Laureys
Valérie Combaret
Nadine Van Roy
Frank Roels
et al.
A1
Artikel in een tijdschrift
in
BMC CANCER
2004
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
L DE MEIRLEIR
S SENECA
W LISSENS
I DE CLERCQ
F EYSKENS
E GERLO
Joél Smet
Rudy Van Coster
A1
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
2004
2003
Automated nanoflow Liquid chromatography/tandem mass spectrometric identification of liver mitochondrial proteins
Bart Devreese
Frank Vanrobaeys
Elke Lecocq
Joél Smet
Rudy Van Coster
Jozef Van Beeumen
Hoofdstuk in een boek
in
Handbook of Proteomic methods
2003
Combination of proteomic techniques as powerful tool in the search for the underlying defect in OXPROS complex deficiencies
Joél Smet
Boel De Paepe
Bart Devreese
JJ MARTIN
L DE MEIRLEIR
W LISSENS
S SENECA
Rudy Van Coster
C3
Conferentie
2003
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II
Rudy Van Coster
S Seneca
Joél Smet
RIA VAN HECKE
E Gerlo
Bart Devreese
Jozef Van Beeumen
JG Leroy
L De Meirleir
W Lissens
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2003
2002
Mass spectrometric identification of mitochondrial oxidative phosphorylation subunits separated by two-dimensional blue-native polyacrylamide gel electrophoresis
Bart Devreese
Frank Vanrobaeys
Joél Smet
Jozef Van Beeumen
Rudy Van Coster
A1
Artikel in een tijdschrift
in
ELECTROPHORESIS
2002
2001
Blue native polyacrylamide gel electrophoresis: A powerful tool in diagnosis of oxidative phosphorylation defects
Rudy Van Coster
Joél Smet
Edith George
L DE MEIRLEIR
S SENECA
J VAN HOVE
G SEBIRE
Helene Verhelst
Jan De Bleecker
B VAN VLEM
et al.
A1
Artikel in een tijdschrift
in
PEDIATRIC RESEARCH
2001