Publications by authors named "Irenaeus F M de Coo"

38Publications

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

Lancet Diabetes Endocrinol 2020 07;8(7):594-605

Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands. Electronic address:

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July 2020

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Neuromuscul Disord 2019 09 21;29(9):693-697. Epub 2019 Aug 21.

Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

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September 2019

Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study.

Neuroimage Clin 2018 31;18:231-244. Epub 2018 Jan 31.

Department of Cognitive Neuroscience, Maastricht University, PO Box 616, 6200MD Maastricht, Netherlands. Electronic address:

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February 2019

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.

J Pediatr 2017 03 9;182:371-374.e2. Epub 2017 Jan 9.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands. Electronic address:

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March 2017

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Front Neurol 2016 16;7:203. Epub 2016 Nov 16.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands; Maastricht Centre for Systems Biology (MaCSBio), Maastricht, Netherlands.

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November 2016

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.

Acta Neuropathol Commun 2015 Oct 28;3:65. Epub 2015 Oct 28.

Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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October 2015

Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.

Ann N Y Acad Sci 2015 Sep 27;1350:29-36. Epub 2015 Aug 27.

Department of Neurology, Erasmus MC-Sophia Children's Hospital, Rotterdam, the Netherlands.

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September 2015

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.

Eur J Hum Genet 2016 Apr 22;24(4):619-22. Epub 2015 Jul 22.

Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, Maastricht, The Netherlands.

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April 2016

PRRT2 mutation causes benign familial infantile convulsions.

Neurology 2012 Nov 17;79(21):2154-5. Epub 2012 Oct 17.

Department of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands.

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November 2012

Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities.

Dev Med Child Neurol 2011 May 17;53(5):417-21. Epub 2011 Mar 17.

Department of Neurology and Paediatric Neurology, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands.

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May 2011

Combined cardiological and neurological abnormalities due to filamin A gene mutation.

Clin Res Cardiol 2011 Jan 22;100(1):45-50. Epub 2010 Aug 22.

Department of Neurology, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.

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January 2011

Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation.

Biochim Biophys Acta 2010 Feb 15;1797(2):197-203. Epub 2009 Oct 15.

Department of Neurology, Erasmus MC Rotterdam, The Netherlands.

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February 2010