Liesbeth T. Wintjes

Nijmegen, GE 6525GA, Netherlands

Last Updated: 09/26/2026

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Found 12 publications

SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.

SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: April 21, 2023

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.

Journal: International journal of molecular sciences

Published: November 20, 2021

Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.

Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.

Journal: Genes

Published: July 17, 2020

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

Journal: Clinical genetics

Published: September 30, 2019

Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency.

Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency.

Journal: Journal of clinical medicine

Published: July 25, 2019

Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.

Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.

Journal: Journal of medical genetics

Published: May 30, 2019

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

Journal: European journal of medical genetics

Published: April 08, 2018

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Journal: Nature communications

Published: February 09, 2018

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

Journal: Human mutation

Published: July 19, 2017

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.

Journal: European journal of human genetics : EJHG

Published: April 18, 2017

Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.

Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.

Journal: Human genetics

Published: February 02, 2017

Mitochondrial complex I dysfunction and altered NAD(P)H kinetics in rat myocardium in cardiac right ventricular hypertrophy and failure.

Mitochondrial complex I dysfunction and altered NAD(P)H kinetics in rat myocardium in cardiac right ventricular hypertrophy and failure.

Journal: Cardiovascular research

Published: October 15, 2015

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Last Updated: 09/26/2026