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Researcher
Elise Vantroys
Profile
Projects
Publications
Activities
Awards & Distinctions
14
Results
2022
Urine lactate concentration as a non-invasive screener for metabolic abnormalities : findings in children with autism spectrum disorder and regression
Sofie Boterberg
Elise Vantroys
Boel De Paepe
Rudy Van Coster
Herbert Roeyers
A1
Journal Article
in
PLOS ONE
2022
2019
Mitochondria lost in translation : mitochondrial DNA translation defects caused by nuclear gene deficiencies
Elise Vantroys
Rudy Van Coster
Herbert Roeyers
Dissertation
2019
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
Conference
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
Conference
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
Journal Article
in
NEUROLOGY-GENETICS
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
Conference
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
Journal Article
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
Conference
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
Journal Article
in
MOLECULAR GENETICS AND METABOLISM
2017
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
Conference
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
Conference
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
Conference
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
Conference
2016
2013
Identity-by-descent mapping and exome sequencing reveals a new candidate gene for the primary congenital glaucoma locus GLC3E
Hannah Verdin
Bart Leroy
Barbara D'haene
Elise Vantroys
Steve Lefever
Frauke Coppieters
Philippe Kestelyn
Elfride De Baere
C3
Conference
2013