Rita Horváth

Research interests

Publications

• Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

  Brain · 2020 · https://doi.org/10.1093/brain/awz418

• Store-Operated Ca 2+ Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism

  Cell Metabolism · 2017 · 10.1016/j.cmet.2016.12.021

• Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

  Genetics in Medicine · 2017 · https://doi.org/10.1038/gim.2017.107

• Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

  Annals of Neurology · 2015 · https://doi.org/10.1002/ana.24362

• Mitochondria: Impaired mitochondrial translation in human disease

  The International Journal of Biochemistry & Cell Biology · 2014 · 10.1016/j.biocel.2013.12.011

• Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

  Brain · 2014 · 10.1093/brain/awu060

• Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

  JAMA · 2014 · https://doi.org/10.1001/jama.2014.7184

• Extending the KCNQ2 encephalopathy spectrum

  Neurology · 2013 · https://doi.org/10.1212/01.wnl.0000435296.72400.a1

• New treatments for mitochondrial disease—no time to drop our standards

  Nature Reviews Neurology · 2013 · 10.1038/nrneurol.2013.129

• Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

  Brain · 2013 · https://doi.org/10.1093/brain/awt315

• Universal heteroplasmy of human mitochondrial DNA

  Human Molecular Genetics · 2012 · https://doi.org/10.1093/hmg/dds435

• Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

  Nature Genetics · 2011 · https://doi.org/10.1038/ng.863

• Polymerase γ Gene POLG Determines the Risk of Sodium Valproate-Induced Liver Toxicity

  Hepatology · 2010 · https://doi.org/10.1002/hep.23891

• Multi-system neurological disease is common in patients with OPA1 mutations

  Brain · 2010 · https://doi.org/10.1093/brain/awq007

• The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations

  Ophthalmology · 2010 · https://doi.org/10.1016/j.ophtha.2009.12.038

• Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.390

• SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.378

• The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

  Brain · 2007 · https://doi.org/10.1093/brain/awm054

• The Human Cytochrome c Oxidase Assembly Factors SCO1 and SCO2 Have Regulatory Roles in the Maintenance of Cellular Copper Homeostasis

  Cell Metabolism · 2007 · https://doi.org/10.1016/j.cmet.2006.12.001

• Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation

  The American Journal of Human Genetics · 2007 · 10.1086/511788

• Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

  The American Journal of Human Genetics · 2007 · https://doi.org/10.1086/519394

• Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

  Neuromuscular Disorders · 2007 · https://doi.org/10.1016/j.nmd.2007.06.002

• Phenotypic spectrum associated with mutations of the mitochondrial polymerase gene

  Brain · 2006 · https://doi.org/10.1093/brain/awl088

• Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

  The American Journal of Human Genetics · 2005 · https://doi.org/10.1086/498176

• Risk of developing a mitochondrial DNA deletion disorder

  The Lancet · 2004 · https://doi.org/10.1016/s0140-6736(04)16851-7

Current projects

No projects listed.