Liesbeth Spruijt

Summary

Affiliation: Maastricht University
Country: The Netherlands

Publications

  1. ncbi request reprint Influence of mutation type on clinical expression of Leber hereditary optic neuropathy
    Liesbeth Spruijt
    Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands
    Am J Ophthalmol 141:676-82. 2006
  2. ncbi request reprint Founder mutations among the Dutch
    Maurice P A Zeegers
    Department of Epidemiology, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands
    Eur J Hum Genet 12:591-600. 2004
  3. ncbi request reprint A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia
    Liesbeth Spruijt
    Department of Genetics and Cell Biology, University of Maastricht, PO Box 616, 6200 MD Maastricht, The Netherlands
    Arch Neurol 64:890-3. 2007
  4. pmc Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy
    Neil Howell
    MitoKor, San Diego, CA 92121, USA
    Am J Hum Genet 72:1460-9. 2003
  5. 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
  6. pmc Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    Gavin Hudson
    Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Am J Hum Genet 81:228-33. 2007

Collaborators

Detail Information

Publications6

  1. ncbi request reprint Influence of mutation type on clinical expression of Leber hereditary optic neuropathy
    Liesbeth Spruijt
    Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands
    Am J Ophthalmol 141:676-82. 2006
    ..The prevalence of LHON in the Dutch population was determined...
  2. ncbi request reprint Founder mutations among the Dutch
    Maurice P A Zeegers
    Department of Epidemiology, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands
    Eur J Hum Genet 12:591-600. 2004
    ..These observations demonstrate the opportunity for gene discovery for other diseases and traits in the Netherlands...
  3. ncbi request reprint A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia
    Liesbeth Spruijt
    Department of Genetics and Cell Biology, University of Maastricht, PO Box 616, 6200 MD Maastricht, The Netherlands
    Arch Neurol 64:890-3. 2007
    ..To report a novel mutation that is associated with Leber hereditary optic neuropathy (LHON) within the same family affected by spastic dystonia...
  4. pmc Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy
    Neil Howell
    MitoKor, San Diego, CA 92121, USA
    Am J Hum Genet 72:1460-9. 2003
    ..Finally, analysis of the mtDNA sequences from those pedigrees that did not carry classic LHON mutations suggested candidate pathogenic mutations at nts 9804, 13051, and 14325...
  5. 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...
  6. pmc Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    Gavin Hudson
    Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Am J Hum Genet 81:228-33. 2007
    ..Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder...