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Author Details

Irenaeus F M de Coo
Unit Clinical Genomics, Maastricht University
1982
173
47
PMIDPaper TitleJournal TitlePublished Year
34872991Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.J Med Genet2023
37178956Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients.Exp Eye Res2023
34740866Blood biomarkers for assessment of mitochondrial dysfunction: An expert review.Mitochondrion2022
35527992Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.Kidney Dis (Basel)2022
35187487Neurodegenerative and functional signatures of the cerebellar cortex in m.3243Aâ¿¿>â¿¿G patients.Brain Commun2022
32857451Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.J Inherit Metab Dis2021
33497358Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.J Clin Invest2021
34426662Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.Eur J Hum Genet2021
34419324Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.Neuromuscul Disord2021
34048486Plasma GDF-15 concentration is not elevated in open-angle glaucoma.PLoS One2021
32559475Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.Lancet Diabetes Endocrinol2020
32634300Using urine to diagnose large-scale mtDNA deletions in adult patients.Ann Clin Transl Neurol2020
32949115The impact of gender, puberty, and pregnancy in patients with POLG disease.Ann Clin Transl Neurol2020
30911575Leigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosis.Ann Clin Transl Neurol2019
31864395Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy.Stem Cell Res Ther2019
31488384A novel mitochondrial m.4414T&gt;C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.Neuromuscul Disord2019
31481303A clinical diagnostic algorithm for early onset cerebellar ataxia.Eur J Paediatr Neurol2019
30919934Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.Clin Genet2019
28685493Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.JIMD Rep2018
30025539Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Orphanet J Rare Dis2018
29868447Anatomic &amp; metabolic brain markers of the m.3243A&gt;G mutation: A multi-parametric 7T MRI study.Neuroimage Clin2018
30369941Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.Front Genet2018
30391508Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.Eur J Med Genet2018
30340467Transplantation, gene therapy and intestinal pathology in MNGIE patients and mice.BMC Gastroenterol2018
29440775Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.Eur J Hum Genet2018
29687034Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.Mol Ther Methods Clin Dev2018
29101127Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.J Med Genet2018
28671271NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.Clin Genet2018
26951855Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.Clin Genet2017
28081892Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.J Pediatr2017
28179228Dietary nitrate does not reduce oxygen cost of exercise or improve muscle mitochondrial function in patients with mitochondrial myopathy.Am J Physiol Regul Integr Comp Physiol2017
28261062Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.Front Cell Neurosci2017
28991104International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.J Neuroophthalmol2017
29093663Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.Front Mol Neurosci2017
28542170Human mutations in integrator complex subunits link transcriptome integrity to brain development.PLoS Genet2017
28856750Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.Ann Neurol2017
28763441Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.PLoS Genet2017
28544736Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.Am J Med Genet A2017
27450679De novo mtDNA point mutations are common and have a low recurrence risk.J Med Genet2017
26197978Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.Eur J Hum Genet2016
26450990Smad1/5/8 are myogenic regulators of murine and human mesoangioblasts.J Mol Cell Biol2016
26475597Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.J Inherit Metab Dis2016
27899912Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.Front Neurol2016
27325888Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.J Exp Med2016
27277220International Paediatric Mitochondrial Disease Scale.J Inherit Metab Dis2016
26843564CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.Neurology2016
25335496Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.Eur J Hum Genet2015
26510925Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.Acta Neuropathol Commun2015
26264513Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.Brain2015
26312584Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.Ann N Y Acad Sci2015
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Collaborators

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Newcastle upon Tyne Hospitals NHS Foundation Trust
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The University of Melbourne
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