R Horvath

Summary

Affiliation: University of Munich
Country: Germany

Publications

  1. doi request reprint Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions
    Fritz Georg Lehnhardt
    Department of Neurology, University of Cologne, Koln, Germany
    Arch Neurol 65:407-11. 2008
  2. ncbi request reprint Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys
    Rita Horvath
    Friedrich Baur Institute and Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Neurology 68:56-8. 2007
  3. pmc Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)
    R Horvath
    Metabolic Disease Centre Munich Schwabing, Institute of Clinical Chemistry, Academic Hospital Schwabing, Kolner Platz 1, 80804 Munich, Germany
    J Neurol Neurosurg Psychiatry 77:74-6. 2006
  4. ncbi request reprint Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy
    R Horvath
    Metabolic Disease Center Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Kolner Platz 1, 80804 Munich, Germany
    Neuromuscul Disord 15:851-7. 2005
  5. ncbi request reprint Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism
    R Horvath
    Metabolic Disease Center Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Munich, Germany
    J Inherit Metab Dis 28:479-92. 2005
  6. pmc Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
    M Jaksch
    Metabolic Disease Centre Munich Schwabing and Institute of Clinical Chemistry, Diagnostic Molecular Biology, and Mitochondrial Genetics, Munich, Germany
    J Med Genet 38:665-73. 2001
  7. ncbi request reprint Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts
    M Jaksch
    Metabolic Disease Centre Munich Schwabing, Koelner Platz 1, 80804 Munich, Germany
    Hum Mol Genet 10:3025-35. 2001
  8. ncbi request reprint Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited
    B G H Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Neuropathol Appl Neurobiol 33:544-59. 2007
  9. ncbi request reprint Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?
    P Freisinger
    Metabolic Disease Center, Munich Schwabing, Children s Hospital and Institute of Medical Genetics, Technical University, Munich, Germany
    J Inherit Metab Dis 27:67-79. 2004
  10. ncbi request reprint Coenzyme Q10 deficiency and isolated myopathy
    R Horvath
    Metabolic Disease Center Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Munich, Germany
    Neurology 66:253-5. 2006

Collaborators

Detail Information

Publications21

  1. doi request reprint Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions
    Fritz Georg Lehnhardt
    Department of Neurology, University of Cologne, Koln, Germany
    Arch Neurol 65:407-11. 2008
    ..To determine the involvement of cerebral metabolism in 2 siblings with mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE)-like disease with multiple mitochondrial DNA (mtDNA) deletions...
  2. ncbi request reprint Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys
    Rita Horvath
    Friedrich Baur Institute and Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Neurology 68:56-8. 2007
    ..Similar to previously reported patients with parkinsonism and mtDNA deletions, the symptoms of our patient responded favorably to levodopa therapy...
  3. pmc Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)
    R Horvath
    Metabolic Disease Centre Munich Schwabing, Institute of Clinical Chemistry, Academic Hospital Schwabing, Kolner Platz 1, 80804 Munich, Germany
    J Neurol Neurosurg Psychiatry 77:74-6. 2006
    ..In six additional patients--five with Leigh or Leigh-like syndrome and one with neuropathy and ataxia associated with isolated deficiency of complex II--mutations in SDHA were not detected, indicating genetic heterogeneity...
  4. ncbi request reprint Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy
    R Horvath
    Metabolic Disease Center Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Kolner Platz 1, 80804 Munich, Germany
    Neuromuscul Disord 15:851-7. 2005
    ..Our report of two patients with isolated COX deficiency and new mutations in COX subunit genes may help to draw more attention to this type of mtDNA defects and provide new aspects for counselling affected families...
  5. ncbi request reprint Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism
    R Horvath
    Metabolic Disease Center Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Munich, Germany
    J Inherit Metab Dis 28:479-92. 2005
    ..Remarkable improvement of clinical symptoms was observed, with complete restoration of cytochrome-c oxidase activity in skeletal muscle...
  6. pmc Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
    M Jaksch
    Metabolic Disease Centre Munich Schwabing and Institute of Clinical Chemistry, Diagnostic Molecular Biology, and Mitochondrial Genetics, Munich, Germany
    J Med Genet 38:665-73. 2001
    ..To evaluate the frequency of pathogenic mtDNA transfer RNA mutations and deletions in biochemically demonstrable respiratory chain (RC) deficiencies in paediatric and adult patients...
  7. ncbi request reprint Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts
    M Jaksch
    Metabolic Disease Centre Munich Schwabing, Koelner Platz 1, 80804 Munich, Germany
    Hum Mol Genet 10:3025-35. 2001
    ..Whatever the mechanism, this result suggests a possible therapy for the early treatment of this fatal infantile disease...
  8. ncbi request reprint Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited
    B G H Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Neuropathol Appl Neurobiol 33:544-59. 2007
    ..These findings may have implications for our understanding of the pathogenesis of GSD2 and for assessing therapeutic success of enzyme replacement therapy...
  9. ncbi request reprint Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?
    P Freisinger
    Metabolic Disease Center, Munich Schwabing, Children s Hospital and Institute of Medical Genetics, Technical University, Munich, Germany
    J Inherit Metab Dis 27:67-79. 2004
    ..Weighing up the evidence, the most likely explanation for the improved cardiac function in this patient was the subcutaneous application of Cu-his...
  10. ncbi request reprint Coenzyme Q10 deficiency and isolated myopathy
    R Horvath
    Metabolic Disease Center Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Munich, Germany
    Neurology 66:253-5. 2006
    ..Oral high-dose CoQ10 supplementation improved muscle strength dramatically and normalized serum CK...
  11. ncbi request reprint Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
    M Jaksch
    Metabolic Disease Centre Munich, Germany
    Neurology 57:1440-6. 2001
    ..To report three unrelated infants with a distinctive phenotype of Leigh-like syndrome, neurogenic muscular atrophy, and hypertrophic obstructive cardiomyopathy. The patients all had a homozygous missense mutation in SCO2...
  12. ncbi request reprint Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency
    R Horvath
    Metabolic Disease Centre Munich, Institute of Clinical Chemistry, Munich, Germany
    Biochem Biophys Res Commun 276:530-3. 2000
    ..We conclude that neither SCO1 nor COX17 are common causes of COX deficiency disorders...
  13. ncbi request reprint Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
    Wolfgang Müller-Felber
    Haunersche Kinderklinik, Childrens Hospital, Ludwig Maximilians University, Lindwurmstr 4, 80337 Munich, Germany
    Neuromuscul Disord 17:698-706. 2007
    ..Pompe disease should be taken into consideration in patients with unexplained limb girdle muscular weakness with respiratory failure. Cardiac manifestations may not be restricted to infantile Pompe disease...
  14. ncbi request reprint The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
    Klaus Gempel
    Metabolic Disease Center Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics Academic Hospital Schwabing, Munich, Germany
    Brain 130:2037-44. 2007
    ..We suggest to give patients both CoQ10 and riboflavin supplementation, especially for long-term treatment...
  15. ncbi request reprint Progressive chronic inflammatory demyelinating polyneuropathy in a child with central nervous system involvement and myopathy
    Nina Barisic
    Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia
    Coll Antropol 30:945-9. 2006
    ..Demyelination might develop in central and peripheral nervous system associated with inflammatory myopathy in patients with progressive course of CIDP...
  16. ncbi request reprint The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis
    Scot C Leary
    Montreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada Department of Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada
    Cell Metab 5:9-20. 2007
    ..These results suggest a mitochondrial pathway for the regulation of cellular copper content that involves signaling through SCO1 and SCO2, perhaps by their thiol redox or metal-binding state...
  17. pmc Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
    Katrin Hoffmann
    Institute of Medical Genetics, Charite University Medical School, Humboldt University, 13353 Berlin, Germany
    Am J Hum Genet 79:303-12. 2006
    ....
  18. ncbi request reprint Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene
    Rita Horvath
    Metabolic Diseases Centre, Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing Munich, Germany
    Brain 129:1674-84. 2006
    ..1399G-->A (A467T) is common in children, but complete POLG1 sequencing is required to identify multiple mutations that can have complex implications for genetic counselling...
  19. pmc Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
    Gavin Hudson
    Mitochondrial Research Group, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, United Kingdom
    Am J Hum Genet 77:1086-91. 2005
    ..This effect is independent of the mtDNA genetic background and explains the variable penetrance and sex bias that characterizes this disorder...
  20. ncbi request reprint Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome
    Petri T Luoma
    Programme of Neurosciences, Biomedicum Helsinki, Helsinki University, Finland
    Hum Mol Genet 14:1907-20. 2005
    ....
  21. ncbi request reprint Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
    Hana Antonicka
    Montreal Neurological Institute, Department of Human Genetics, McGill University, Montreal, H3A 2B4, Canada
    Hum Mol Genet 12:2693-702. 2003
    ..This study shows that mutations in this gene can cause nearly the full range of clinical phenotypes associated with early onset isolated COX deficiency...