Publications by authors named "Van Coster"

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mTOR Inhibition Enhances Delivery and Activity of Antisense Oligonucleotides in Uveal Melanoma Cells.
Shanna Dewaele, Louis Delhaye, Boel De Paepe, Bram Bogaert, Ramiro Martinez, Rudy Van Coster

Nucleic Acid Ther· August 2023

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Neonatal lactic acidosis explained by LARS2 defect.
Boel De Paepe, Joél Smet, Robert Kopajtich, Holger Prokisch, Rudy Van Coster

Pediatr Res· March 2023

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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

PLoS One· September 2022

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Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel heterozygous variant.
Charlène Lhuissier, Bart E Wagner, Amy Vincent, Gaëtan Garraux, Olivier Hougrand, Rudy Van Coster

Front Neurol· September 2022

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RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.
Danique Beijer, Maike F Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Rudy Van Coster

Eur J Neurol· July 2022

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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster

Orphanet J Rare Dis· May 2022

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Vicente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Rudy Van Coster

Genome Med· April 2022

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High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
Richard J L F Lemmers, Patrick J van der Vliet, David San Leon Granado, Nienke van der Stoep, Henk Buermans, Rudy van Coster

Hum Mol Genet· March 2022

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The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival.
Shanna Dewaele, Louis Delhaye, Boel De Paepe, Eric James de Bony, Jilke De Wilde, Rudy Van Coster

Oncogene· January 2022

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Correction to: The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival.
Shanna Dewaele, Louis Delhaye, Boel De Paepe, Eric James de Bony, Jilke De Wilde, Rudy Van Coster

Oncogene· January 2022

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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, Rudy Van Coster

iScience· December 2021

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Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Rudy Van Coster

Mol Genet Genomic Med· September 2021

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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
Candy Kumps, Erika D'haenens, Sarah Vergult, Jasmine Leus, Rudy van Coster

Clin Genet· March 2021

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Germline nuclear transfer in mice may rescue poor embryo development associated with advanced maternal age and early embryo arrest.
M Tang, M Popovic, P Stamatiadis, M Van der Jeught, R Van Coster

Hum Reprod· July 2020

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Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in gene.
George K Papadimas, Efthimia Vargiami, Pinelopi Dragoumi, Rudy Van Coster, Joel Smet

Acta Myol· June 2020

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Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Miriam Bauwens, Stephan Storch, Nicole Weisschuh, Chantal Ceuterick-de Groote, Riet De Rycke, Rudy Van Coster

Clin Genet· March 2020

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Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain.
Jonas Görlach, Daniel Amsel, Heike Kölbel, Michelle Grzybowsky, Frank Rutsch, Rudy Van Coster

Muscle Nerve· February 2020

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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, Rudy Van Coster

J Synchrotron Radiat· January 2020

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Comparative analysis of different nuclear transfer techniques to prevent the transmission of mitochondrial DNA variants.
M Tang, R R Guggilla, Y Gansemans, M Van der Jeught, A Boel, R Van Coster

Mol Hum Reprod· December 2019

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Characteristics, Early Development and Outcome of Parent-Reported Regression in Autism Spectrum Disorder.
Sofie Boterberg, Rudy Van Coster, Herbert Roeyers

J Autism Dev Disord· November 2019

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Author Correction: A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.
S J Tavernier, V Athanasopoulos, P Verloo, G Behrens, J Staal, R Van Coster

Nat Commun· November 2019

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A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.
S J Tavernier, V Athanasopoulos, P Verloo, G Behrens, J Staal, R Van Coster

Nat Commun· October 2019

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Recurrent arterial ischemic stroke with good response to mycophenolate mofetil.
Benedikte Van Driessche, Patrick Verloo, Nele Herregods, Veerle Mondelaers, Joke Dehoorne, Rudy Van Coster

Eur J Paediatr Neurol· January 2019

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Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in .
Dimitri M Hemelsoet, Arnaud V Vanlander, Joél Smet, Elise Vantroys, Marjan Acou, Rudy Van Coster

Neurol Genet· December 2018

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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, Rudy Van Coster

Orphanet J Rare Dis· July 2018

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