ereprof. dr. Rudy Van Coster

Journal Article
A1
open access

Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

E. Mercuri, A. M. Seferian, L. Servais, N. Deconinck, H. Stevenson, X. Ni, W. Zhang, L. East, S. Yonren, F. Muntoni, et al.

(2023) NEUROMUSCULAR DISORDERS. 33(6). p.476-483

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Journal Article
A2
open access

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 (UGent) , Joél Smet (UGent) , G. A. Nakhla and D. A. Mehaney

(2023) SOUTH AFRICAN JOURNAL OF CHILD HEALTH. 17(1). p.31-36

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Journal Article
A1
open access

mTOR inhibition enhances delivery and activity of antisense oligonucleotides in uveal melanoma cells

Shanna Dewaele, Louis Delhaye (UGent) , Boel De Paepe (UGent) , Bram Bogaert, Ramiro Martinez (UGent) , Jasper Anckaert (UGent) , Nurten Yigit (UGent) , Justine Nuytens (UGent) , Rudy Van Coster (UGent) , Sven Eyckerman (UGent) , et al.

(2023) NUCLEIC ACID THERAPEUTICS. 33(4). p.248-264

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Journal Article
A1
open access

Neonatal lactic acidosis explained by LARS2 defect

Boel De Paepe (UGent) , Joél Smet (UGent) , Robert Kopajtich, Holger Prokisch, Rudy Van Coster (UGent) and Arnaud Vanlander (UGent)

(2023) PEDIATRIC RESEARCH. 93. p.740-743

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Journal Article
A1
open access

Urine lactate concentration as a non-invasive screener for metabolic abnormalities : findings in children with autism spectrum disorder and regression

Sofie Boterberg (UGent) , Elise Vantroys, Boel De Paepe (UGent) , Rudy Van Coster (UGent) and Herbert Roeyers (UGent)

(2022) PLOS ONE. 17(9).

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Conference Paper
C3
open access

Expanded phenotyping by microscopic imaging

Frank Roels (UGent) , PATRICK VERLOO (UGent) , Boel De Paepe (UGent) , Jan De Bleecker (UGent) and Rudy Van Coster (UGent)

(2022) JOURNAL OF INHERITED METABOLIC DISEASE. In Journal of Inherited Metabolic Disease 45(Supplement 1). p.69-69

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Journal Article
A1
open access

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.

(2022) GENOME MEDICINE. 14(1).

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Journal Article
A1
open access

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

Nika Schuermans (UGent) , Dimitri Hemelsoet (UGent) , Wim Terryn, Sanne Steyaert (UGent) , Rudy Van Coster (UGent) , Paul Coucke (UGent) , Wouter Steyaert, Bert Callewaert (UGent) , Elke Bogaert (UGent) , PATRICK VERLOO (UGent) , et al.

(2022) ORPHANET JOURNAL OF RARE DISEASES. 17(1).

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Miscellaneous
open access

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 (UGent) , Boel De Paepe (UGent) , Eric James de Bony, Jilke De Wilde (UGent) , Katrien Vanderheyden, Jasper Anckaert (UGent) , Nurten Yigit (UGent) , Justine Nuytens (UGent) , Eveline Vanden Eynde (UGent) , et al.

(2022) ONCOGENE. 41(1). p.146-146

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Journal Article
A1
open access

The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival

Shanna Dewaele, Louis Delhaye (UGent) , Boel De Paepe (UGent) , Eric de Bony de Lavergne (UGent) , Jilke De Wilde (UGent) , Katrien Vanderheyden, Jasper Anckaert (UGent) , Nurten Yigit (UGent) , Justine Nuytens (UGent) , Eveline Vanden Eynde (UGent) , et al.

(2022) ONCOGENE. 41(1). p.15-25

Academic Bibliography

ereprof. dr. Rudy Van Coster

Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

Clinical, biochemical, and histopathological diagnosis of Egyptian paediatric patients with suspected mitochondrial diseases : a hospital-based study

mTOR inhibition enhances delivery and activity of antisense oligonucleotides in uveal melanoma cells

Neonatal lactic acidosis explained by LARS2 defect

Urine lactate concentration as a non-invasive screener for metabolic abnormalities : findings in children with autism spectrum disorder and regression

Expanded phenotyping by microscopic imaging

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

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

The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival (Sept, 10.1038/s41388-021-02006-x, 2021)

The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival

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