Gert Van Goethem

Summary

Affiliation: University of Antwerp
Country: Belgium

Publications

  1. ncbi request reprint Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions
    Gert Van Goethem
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB 8, University of Antwerp UIA
    Acta Neurol Belg 102:39-42. 2002
  2. pmc Mitochondrial mosaics in the liver of 3 infants with mtDNA defects
    Frank Roels
    Department of Pathology, Ghent University Hospital, Block A, De Pintelaan 185, 9000 Gent, Belgium
    BMC Clin Pathol 9:4. 2009
  3. ncbi request reprint POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
    G Van Goethem
    Division of Neurology and the Neuromuscular Reference Center, University Hospital, Antwerpen, Belgium
    Neurology 63:1251-7. 2004
  4. ncbi request reprint Autosomal disorders of mitochondrial DNA maintenance
    Gert Van Goethem
    Division of Neurology and Neuromuscular Reference Center, University Hospital Antwerpen, Belgium
    Acta Neurol Belg 106:66-72. 2006
  5. ncbi request reprint Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification
    Gert Van Goethem
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, Born Bunge Foundation BBS, University of Antwerp UIA, Antwerpen, Belgium
    Neuromolecular Med 3:129-46. 2003
  6. ncbi request reprint Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
    Gert Van Goethem
    Neuromuscular Reference Center and Department of Neurology, University Hospital of Antwerp UZA, Antwerpen, Belgium
    Eur J Hum Genet 11:547-9. 2003
  7. ncbi request reprint Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle
    Gert Van Goethem
    Hum Mutat 22:175-6. 2003
  8. pmc Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
    Sjoerd Wanrooij
    Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    Nucleic Acids Res 32:3053-64. 2004
  9. ncbi request reprint Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders
    Anna H Hakonen
    Research Program of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Eur J Hum Genet 15:779-83. 2007

Collaborators

Detail Information

Publications9

  1. ncbi request reprint Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions
    Gert Van Goethem
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB 8, University of Antwerp UIA
    Acta Neurol Belg 102:39-42. 2002
    ..We also identified POLG mutations in two families with arPEO, which underlines the crucial role of the mtDNA replication machinery for mtDNA maintenance...
  2. pmc Mitochondrial mosaics in the liver of 3 infants with mtDNA defects
    Frank Roels
    Department of Pathology, Ghent University Hospital, Block A, De Pintelaan 185, 9000 Gent, Belgium
    BMC Clin Pathol 9:4. 2009
    ..Tentative explanations for the mitochondrial mosaics are, in one patient, unequal partition of mutated mitochondria during mitoses, and in two others, an interaction between products of several genes required for mtDNA maintenance...
  3. ncbi request reprint POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
    G Van Goethem
    Division of Neurology and the Neuromuscular Reference Center, University Hospital, Antwerpen, Belgium
    Neurology 63:1251-7. 2004
    ..To identify POLG mutations in patients with sensory ataxia and CNS features...
  4. ncbi request reprint Autosomal disorders of mitochondrial DNA maintenance
    Gert Van Goethem
    Division of Neurology and Neuromuscular Reference Center, University Hospital Antwerpen, Belgium
    Acta Neurol Belg 106:66-72. 2006
    ..However clinical heterogeneity results in different neurological syndromes with considerable overlap. The most common features are PEO, neuropathy, myopathy, ataxia, epilepsy and hepatopathy...
  5. ncbi request reprint Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification
    Gert Van Goethem
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, Born Bunge Foundation BBS, University of Antwerp UIA, Antwerpen, Belgium
    Neuromolecular Med 3:129-46. 2003
    ..Since clinical presentations are heterogeneous and overlap with different previously described clinical syndromes, we advocate the use of a genetic, instead of a clinical, classification of disorders with multiple mtDNA deletions...
  6. ncbi request reprint Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
    Gert Van Goethem
    Neuromuscular Reference Center and Department of Neurology, University Hospital of Antwerp UZA, Antwerpen, Belgium
    Eur J Hum Genet 11:547-9. 2003
    ..The third mutation was previously reported as a recessive POLG mutation (T251I). This finding indicates the need for POLG sequencing in patients with features of MNGIE without TP mutations...
  7. ncbi request reprint Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle
    Gert Van Goethem
    Hum Mutat 22:175-6. 2003
  8. pmc Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
    Sjoerd Wanrooij
    Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    Nucleic Acids Res 32:3053-64. 2004
    ..Deletion breakpoint analysis showed frequent breakpoints around homopolymeric runs, which could be a signature of replication stalling. Therefore, we propose replication stalling as the principal cause of deletion formation...
  9. ncbi request reprint Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders
    Anna H Hakonen
    Research Program of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Eur J Hum Genet 15:779-83. 2007
    ..They have effectively spread to populations of European descent with carrier frequencies up to 1% in several populations. Our data predict that these mutations are common causes of ataxia and Alpers disease in the Western world...