Richard J Rodenburg

Richard J Rodenburg

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Richard J Rodenburg

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Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Am J Hum Genet 2020 Jan 26;106(1):102-111. Epub 2019 Dec 26.

Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.12.005DOI Listing
January 2020

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

ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.

Brain Dev 2019 Nov 16;41(10):883-887. Epub 2019 Jul 16.

Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.07.003DOI Listing
November 2019

Age-Dependent Decrease of Mitochondrial Complex II Activity in a Familial Mouse Model for Alzheimer's Disease.

J Alzheimers Dis 2018 ;66(1):75-82

Department of Anatomy, Radboud University Medical Center, Donders Institute for Brain Cognition and Behaviour, Nijmegen, The Netherlands.

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http://dx.doi.org/10.3233/JAD-180337DOI Listing
September 2019

Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease.

J Mol Diagn 2019 05 11;21(3):503-513. Epub 2019 Mar 11.

Human Metabolomics, Faculty of Natural and Agricultural Sciences, North-West University, Potchefstroom, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2019.02.002DOI Listing
May 2019

A fatal case of -associated primary coenzyme Q deficiency.

JIMD Rep 2019 May 3;47(1):23-29. Epub 2019 Apr 3.

Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine Queen Mary Hospital, The University of Hong Kong Hong Kong SAR China.

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http://dx.doi.org/10.1002/jmd2.12032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498831PMC
May 2019

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).

Mitochondrion 2019 03 19;45:38-45. Epub 2018 Feb 19.

Mitochondria Research Laboratory, Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2018.02.003DOI Listing
March 2019

Biallelic variants in and cause deafness and (ovario)leukodystrophy.

Neurology 2019 03 8;92(11):e1225-e1237. Epub 2019 Feb 8.

From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000007098DOI Listing
March 2019

A Mitochondrial Complex I Deficiency Phenotype Array.

Front Genet 2019 27;10:245. Epub 2019 Mar 27.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.

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https://www.frontiersin.org/article/10.3389/fgene.2019.00245
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http://dx.doi.org/10.3389/fgene.2019.00245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445954PMC
March 2019

Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.

Mol Genet Genomic Med 2019 02 4;7(2):e00523. Epub 2018 Dec 4.

Department of Pediatrics, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393655PMC
February 2019

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes.

Mol Genet Metab Rep 2018 Dec 13;17:19-21. Epub 2018 Sep 13.

Department of Pediatrics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.ymgmr.2018.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138878PMC
December 2018

A family segregating lethal neonatal coenzyme Q deficiency caused by mutations in COQ9.

J Inherit Metab Dis 2018 07 20;41(4):719-729. Epub 2018 Mar 20.

Maritime Medical Genetics Service, IWK Health Centre, 5850 University Avenue, P.O. Box 9700, Halifax, NS, B3K 6R8, Canada.

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http://dx.doi.org/10.1007/s10545-017-0122-7DOI Listing
July 2018

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Mol Genet Metab Rep 2018 Jun 15;15:80-89. Epub 2018 Mar 15.

Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 2 L. Puusepa Street, Tartu 51014, Estonia.

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http://dx.doi.org/10.1016/j.ymgmr.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043467PMC
June 2018

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.

J Pediatr 2018 05 13;196:309-313.e3. Epub 2018 Feb 13.

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

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https://linkinghub.elsevier.com/retrieve/pii/S00223476173173
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http://dx.doi.org/10.1016/j.jpeds.2017.12.043DOI Listing
May 2018

The functional genomics laboratory: functional validation of genetic variants.

J Inherit Metab Dis 2018 05 14;41(3):297-307. Epub 2018 Feb 14.

Radboudumc, Radboud Center for Mitochondrial Medicine, 774 Translational Metabolic Laboratory, Department of Pediatrics, PO Box 9101, 6500HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0146-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959958PMC
May 2018

Feeding difficulties, a key feature of the NDUFS4 mitochondrial disease model.

Dis Model Mech 2018 03 27;11(3). Epub 2018 Mar 27.

Khondrion BV, Philips van Leydenlaan 15, 6525 EX, Nijmegen, The Netherlands

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http://dx.doi.org/10.1242/dmm.032482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897729PMC
March 2018

Statins Affect Skeletal Muscle Performance: Evidence for Disturbances in Energy Metabolism.

J Clin Endocrinol Metab 2018 01;103(1):75-84

Department of Physiology, Radboud University Medical Center, Nijmegen, Netherlands.

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http://dx.doi.org/10.1210/jc.2017-01561DOI Listing
January 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 2018

4-Hydroxybenzoic acid restores CoQ biosynthesis in human COQ2 deficiency.

Ann Clin Transl Neurol 2017 12 17;4(12):902-908. Epub 2017 Oct 17.

Department of General Pediatrics, Neonatology and Pediatric Cardiology University Children's Hospital Medical Faculty Heinrich-Heine-University Düsseldorf Mooren str. 540225 Düsseldorf Germany.

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http://dx.doi.org/10.1002/acn3.486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740244PMC
December 2017

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.

Mitochondrion 2017 11 4;37:46-54. Epub 2017 Jul 4.

NeuroCure Clinical Research Center (NCRC), Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany; Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15677249163028
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http://dx.doi.org/10.1016/j.mito.2017.06.007DOI Listing
November 2017

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

Early and lethal neurodegeneration with myasthenic and myopathic features: A new -CDG.

Neurology 2017 Aug 21;89(7):657-664. Epub 2017 Jul 21.

From the Division of Neuropaediatrics and Muscle Disorders (D.C.S., R.K., M. Beytia, J.K.) and Center of Pediatric and Adolescent Medicine (M.K.), Faculty of Medicine, Medical Center, University of Freiburg; Department of Human Genetics (S.R., C.R.M., M. Beytia), Biozentrum, University of Würzburg, Germany; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition and Behavior (D.J.L.), and Radboud Center for Mitochondrial Medicine, Department of Pediatrics (R.J.R.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatrics (Neuromuscular and Neurometabolic Disorders) (L.B., M.T.), McMaster Children's Hospital, Hamilton, Canada; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Departments of Child Neurology (M. Bugiani, M.v.d.K.) and Pathology (M. Bugiani), VU University Medical Center; and Department of Functional Genomics (M.v.d.K.), VU University, Amsterdam Neuroscience, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000004234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5562963PMC
August 2017

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.

Stem Cell Res Ther 2017 06 24;8(1):150. Epub 2017 Jun 24.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Moorenstraße 5, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1186/s13287-017-0601-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482938PMC
June 2017

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

Mol Genet Metab 2017 04 6;120(4):337-341. Epub 2017 Feb 6.

Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Department of Pediatrics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2017.02.003DOI Listing
April 2017

Three families with 'de novo' m.3243A > G mutation.

BBA Clin 2016 Dec 29;6:19-24. Epub 2016 Apr 29.

Radboud University Medical Center Amalia Children's Hospital, Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbacli.2016.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900294PMC
December 2016

Microbial stimulation of different Toll-like receptor signalling pathways induces diverse metabolic programmes in human monocytes.

Nat Microbiol 2016 Dec 19;2:16246. Epub 2016 Dec 19.

Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/nmicrobiol.2016.246DOI Listing
December 2016

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

Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report.

J Clin Neuromuscul Dis 2016 Sep;18(1):34-6

*Department of Neurology, Gelre Hospitals Apeldoorn, Apeldoorn, the Netherlands; †Department of Neurology, Maasstad ziekenhuis, Rotterdam, the Netherlands; ‡NCMD, Radboudumc, Nijmegen, the Netherlands; and §Department of Neurology, Radboud University Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1097/CND.0000000000000126DOI Listing
September 2016

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

JIMD Rep 2017 29;33:87-92. Epub 2016 Sep 29.

Department of Pediatric Neurology, Academic Medical Center, University of Amsterdam, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413457PMC
September 2016

Mitochondrial complex I-linked disease.

Biochim Biophys Acta 2016 Jul 22;1857(7):938-45. Epub 2016 Feb 22.

Radboud Center for Mitochondrial Medicine (RCMM), Department of Pediatrics, 774 Translational Metabolic Laboratory (TML), Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2016.02.012DOI Listing
July 2016

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.

Mol Genet Metab 2016 May 4;118(1):21-7. Epub 2016 Mar 4.

Centre for Molecular Medicine, Child & Family Research Institute, Vancouver, Canada; Department of Pediatrics, University of British Columbia, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192163002
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http://dx.doi.org/10.1016/j.ymgme.2016.03.001DOI Listing
May 2016

Mitochondrial disorders in children: toward development of small-molecule treatment strategies.

EMBO Mol Med 2016 04;8(4):311-27

Centre for Systems Biology and Bioenergetics, Radboud University Medical Center, Nijmegen, The Netherlands Khondrion BV, Nijmegen, The Netherlands Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands

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http://dx.doi.org/10.15252/emmm.201506131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818752PMC
April 2016

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

Eur J Hum Genet 2016 Mar 17;24(3):450-4. Epub 2015 Jun 17.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755375PMC
March 2016

Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia.

J Inherit Metab Dis 2016 Jan 27;39(1):59-65. Epub 2015 Aug 27.

Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 286 Biochemistry, P.O. Box 9101, NL-6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-015-9885-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4710641PMC
January 2016

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.

Neurogenetics 2015 Oct 24;16(4):319-23. Epub 2015 Mar 24.

Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians University, Ziemssenstr. 1, 80336, Munich, Germany.

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http://dx.doi.org/10.1007/s10048-015-0444-2DOI Listing
October 2015

Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition.

Cell Metab 2015 Sep;22(3):399-407

Department of Pharmacology and Toxicology, Radboud University Medical Center, Nijmegen 6500HB, the Netherlands; Center for Systems Biology and Bioenergetics, Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Center, Nijmegen 6500HB, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2015.08.002DOI Listing
September 2015

Skeletal muscle mitochondria of NDUFS4-/- mice display normal maximal pyruvate oxidation and ATP production.

Biochim Biophys Acta 2015 Jun-Jul;1847(6-7):526-33. Epub 2015 Feb 14.

Department of Biochemistry, RIMLS, Radboud University Medical Center, Nijmegen, The Netherlands; Centre for Systems Biology and Bioenergetics, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2015.02.006DOI Listing
August 2015

MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.

Neurogenetics 2015 Jul 10;16(3):237-40. Epub 2015 Feb 10.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Duesseldorf, Moorenstr. 5, 40225, Duesseldorf, Germany.

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http://dx.doi.org/10.1007/s10048-015-0440-6DOI Listing
July 2015

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

J Inherit Metab Dis 2015 May 20;38(3):391-403. Epub 2014 Dec 20.

Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, Salzburg, 5020, Austria,

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http://dx.doi.org/10.1007/s10545-014-9787-3DOI Listing
May 2015

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

J Inherit Metab Dis 2015 May 4;38(3):437-43. Epub 2015 Mar 4.

Department of Pediatrics, Radboudumc, Nijmegen Centre for Mitochondrial Disorders (NCMD), 774 Translational Metabolic Laboratory, P.O Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-015-9823-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432107PMC
May 2015

A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy.

Neuromuscul Disord 2015 Mar 13;25(3):262-7. Epub 2014 Nov 13.

Nijmegen Centre for Mitochondrial Disorders (NCMD), Amalia Children's Hospital, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.11.002DOI Listing
March 2015

Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.

Biochim Biophys Acta 2015 Mar 20;1852(3):529-40. Epub 2014 Dec 20.

Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2014.12.012DOI Listing
March 2015

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Eur J Hum Genet 2015 Feb 30;23(2):202-9. Epub 2014 Apr 30.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.

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http://www.nature.com/doifinder/10.1038/ejhg.2014.80
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http://dx.doi.org/10.1038/ejhg.2014.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297908PMC
February 2015

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.

Hum Mutat 2015 Jan 18;36(1):34-8. Epub 2014 Nov 18.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre, GA Nijmegen, The Netherlands; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany.

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http://doi.wiley.com/10.1002/humu.22715
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http://dx.doi.org/10.1002/humu.22715DOI Listing
January 2015

Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.

Sci Rep 2015 Jan 26;5:8035. Epub 2015 Jan 26.

1] Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, NL-6500 HB Nijmegen, The Netherlands [2] Centre for Systems Biology and Bioenergetics, Radboud University Medical Center, Nijmegen, The Netherlands [3] Khondrion BV, Philips van Leydenlaan 15, 6525EX Nijmegen, The Netherlands.

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http://www.nature.com/articles/srep08035
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http://dx.doi.org/10.1038/srep08035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306129PMC
January 2015

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.

Hum Mol Genet 2014 Dec 9;23(23):6356-65. Epub 2014 Jul 9.

Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, PO Box 9101, 6500HB Nijmegen, The Netherlands,

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http://dx.doi.org/10.1093/hmg/ddu357DOI Listing
December 2014

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

PLoS Genet 2013 26;9(12):e1004034. Epub 2013 Dec 26.

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia ; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1371/journal.pgen.1004034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873243PMC
August 2014

Mutations in RARS cause hypomyelination.

Ann Neurol 2014 Jul 16;76(1):134-9. Epub 2014 May 16.

Department of Child Neurology, VU University Medical Center, Amsterdam; Neuroscience Campus Amsterdam, Amsterdam.

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http://doi.wiley.com/10.1002/ana.24167
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http://dx.doi.org/10.1002/ana.24167DOI Listing
July 2014

Serum FGF21 levels in adult m.3243A>G carriers: clinical implications.

Neurology 2014 Jul 6;83(2):125-33. Epub 2014 Jun 6.

From the Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders (S.K., P.d.L., R.J.T.R., M.C.H.J., J.A.M.S.), and Departments of Laboratory Medicine (D.H.v.T., A.M.B., F.C.G.J.S.), Radiology and Nuclear Medicine (D.V.), Health Evidence (A.R.T.D.), and General Internal Medicine (M.C.H.J.), Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000000578DOI Listing
July 2014

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Ann Clin Transl Neurol 2014 Jul 19;1(7):462-70. Epub 2014 Jun 19.

Telethon Institute of Genetics and Medicine Naples, Italy ; Department of Translational Medicine, Federico II University of Naples Naples, Italy.

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http://dx.doi.org/10.1002/acn3.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184775PMC
July 2014

A guide to diagnosis and treatment of Leigh syndrome.

J Neurol Neurosurg Psychiatry 2014 Mar 14;85(3):257-65. Epub 2013 Jun 14.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, , Düsseldorf, Germany.

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http://dx.doi.org/10.1136/jnnp-2012-304426DOI Listing
March 2014

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling.

PLoS One 2013 23;8(7):e68340. Epub 2013 Jul 23.

Department of Laboratory Medicine, Laboratory of Genetic Endocrine and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0068340PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720734PMC
March 2014

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

J Inherit Metab Dis 2013 Nov 25;36(6):913-21. Epub 2013 Jan 25.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics and the Institute of Genetic and Metabolic Disease (IGMD), Radboud University Medical Centre, P.O Box 9101, 6500 HB, Nijmegen, The Netherlands,

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http://doi.wiley.com/10.1007/s10545-012-9579-6
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http://dx.doi.org/10.1007/s10545-012-9579-6DOI Listing
November 2013

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

Brain 2013 May 18;136(Pt 5):1544-54. Epub 2013 Apr 18.

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Laboratory for Genetic, Endocrine, and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/brain/awt086DOI Listing
May 2013

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.

Gene 2013 Mar 22;516(1):162-7. Epub 2012 Dec 22.

Department of Pediatrics, McMaster Children's Hospital, Hamilton, Ontario, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S03781119120153
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http://dx.doi.org/10.1016/j.gene.2012.12.024DOI Listing
March 2013

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

J Neurol Sci 2013 Mar 21;326(1-2):24-8. Epub 2013 Jan 21.

Laboratory of Clinical Chemistry and Hematology, St. Elisabeth Hospital, Tilburg, The Netherlands.

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http://dx.doi.org/10.1016/j.jns.2013.01.004DOI Listing
March 2013

Inheritance of the m.3243A>G mutation.

JIMD Rep 2013 6;8:47-50. Epub 2012 Jul 6.

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

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http://dx.doi.org/10.1007/8904_2012_159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565654PMC
February 2013

Cardiac arrest in kearns-sayre syndrome.

JIMD Rep 2012 6;2:7-10. Epub 2011 Sep 6.

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

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http://link.springer.com/10.1007/8904_2011_32
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http://dx.doi.org/10.1007/8904_2011_32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509832PMC
February 2013

Molecular base of biochemical complex I deficiency.

Mitochondrion 2012 Sep 20;12(5):520-32. Epub 2012 Jul 20.

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.mito.2012.07.106DOI Listing
September 2012