Liesbeth T Wintjes

Liesbeth T Wintjes

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Liesbeth T Wintjes

Liesbeth T Wintjes

Publications by authors named "Liesbeth T Wintjes"

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

Eur J Med Genet 2019 Nov 10;62(11):103572. Epub 2018 Nov 10.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.11.006DOI Listing
November 2019

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

Eur J Hum Genet 2017 11 30;25(11):1273-1277. Epub 2017 Aug 30.

Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2017.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643967PMC
November 2017

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

Cardiovasc Res 2016 09 11;111(4):362-72. Epub 2016 Jul 11.

Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, O|2 Building, De Boelelaan 1118, Amsterdam 1081 HV, The Netherlands Faculty of Science, Department of Physics and Astronomy, VU University Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/cvr/cvw176DOI Listing
September 2016

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.

Biochim Biophys Acta 2012 Feb 20;1822(2):168-75. Epub 2011 Oct 20.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2011.10.012DOI Listing
February 2012

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

Ann Neurol 2008 Apr;63(4):473-81

Department of Pediatrics and Laboratory of Pediatrics and Neurology, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ana.21328DOI Listing
April 2008

Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts.

Clin Chem 2007 Apr 1;53(4):729-34. Epub 2007 Mar 1.

Department of Pediatrics and Laboratory of Pediatrics and Neurology, The Nijmegen Centre for Mitochondrial Disorders at Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2006.078873DOI Listing
April 2007

Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.

Clin Chem 2006 May 16;52(5):860-71. Epub 2006 Mar 16.

Department of Pediatrics and Laboratory of Pediatrics and Neurology, the Nijmegen Centre for Mitochondrial Disorders (NCMD), Nijmegen, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2005.062414DOI Listing
May 2006