B Plecko

Summary

Affiliation: Medical University of Graz
Country: Austria

Publications

  1. ncbi Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy
    B Plecko
    Department of Pediatrics, University Hospital Graz, Graz, Austria
    Neuropediatrics 36:200-5. 2005
  2. ncbi Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats
    B Plecko
    Department of Pediatrics, University Hospital Graz, Austria
    J Inherit Metab Dis 28:689-93. 2005
  3. ncbi Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene
    Barbara Plecko
    Department of Pediatrics, Medical University Graz, Graz, Austria
    Hum Mutat 28:19-26. 2007
  4. ncbi Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
    M Schuelke
    Nat Genet 21:260-1. 1999
  5. ncbi Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria
    D Möslinger
    Department of Paediatrics, University Hospital Vienna, Austria
    Eur J Pediatr 160:277-82. 2001
  6. ncbi Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype
    B Plecko
    Department of Paediatrics, University Hospital Graz, Graz, Austria
    Neuropediatrics 34:127-36. 2003
  7. ncbi Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
    A L Schulz
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Clin Genet 73:62-70. 2008
  8. ncbi GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease
    M Henneke
    Department of Pediatrics and Pediatric Neurology, Georg August University, Faculty of Medicine, Robert Koch Strasse 40, 37075 Gottingen, Germany
    Neurology 70:748-54. 2008

Collaborators

  • Thomas Luecke
  • Bernhard Schmitt
  • K Brockmann
  • W Kress
  • Andreas Schulze
  • Enrico Bertini
  • J Loeffen
  • A L Schulz
  • M Henneke
  • D Möslinger
  • E Seemanova
  • G Kruger
  • J Kaiser
  • D Rodriguez
  • B Albrecht
  • M Zenker
  • A P Burlina
  • A Ohlenbusch
  • D Horn
  • B Tuysuz
  • O Boespflug-Tanguy
  • K Kutsche
  • P Combes
  • J Mucke
  • A Schinzel
  • C Arici
  • G C Korenke
  • S Uhrig
  • A Buske
  • S Spranger
  • C A Hübner
  • H Seidel
  • M Schuelke
  • R Konig
  • P Meinecke
  • E Rossier
  • S Diekmann
  • G Gillessen-Kaesbach
  • I van der Burgt
  • J Gartner
  • R Heller
  • D Wieczorek
  • W Strobl
  • T Suormala
  • R Seidl
  • E R Baumgartner
  • A Muhl
  • S Stockler-Ipsiroglu
  • S Scheibenreiter
  • M Tiefenthaler
  • J Smeitink
  • L van den Heuvel
  • F Trijbels
  • E Mariman

Detail Information

Publications8

  1. ncbi Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy
    B Plecko
    Department of Pediatrics, University Hospital Graz, Graz, Austria
    Neuropediatrics 36:200-5. 2005
    ..It will in addition prevent patients with pyridoxine-dependent epilepsy from experiencing potentially dangerous pyridoxine-withdrawal, which until now has been necessary to prove the diagnosis...
  2. ncbi Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats
    B Plecko
    Department of Pediatrics, University Hospital Graz, Austria
    J Inherit Metab Dis 28:689-93. 2005
    ....
  3. ncbi Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene
    Barbara Plecko
    Department of Pediatrics, Medical University Graz, Graz, Austria
    Hum Mutat 28:19-26. 2007
    ..Administration of pyridoxine in PDE may not only correct secondary PLP deficiency, but may also lead to a reduction of AASA (and P6C) as presumably toxic compounds...
  4. ncbi Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
    M Schuelke
    Nat Genet 21:260-1. 1999
  5. ncbi Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria
    D Möslinger
    Department of Paediatrics, University Hospital Vienna, Austria
    Eur J Pediatr 160:277-82. 2001
    ..Moderate mental retardation might represent a possible manifestation of cerebral dysfunction in patients with profound biotinidase deficiency...
  6. ncbi Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype
    B Plecko
    Department of Paediatrics, University Hospital Graz, Graz, Austria
    Neuropediatrics 34:127-36. 2003
    ..Neither by MRI nor by MRS were patterns found that would allow differentiation between PMD and PMLD patients...
  7. ncbi Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
    A L Schulz
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Clin Genet 73:62-70. 2008
    ....
  8. ncbi GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease
    M Henneke
    Department of Pediatrics and Pediatric Neurology, Georg August University, Faculty of Medicine, Robert Koch Strasse 40, 37075 Gottingen, Germany
    Neurology 70:748-54. 2008
    ..Few patients with GJA12 mutated PMLD have been reported, and to date, the frequency as well as the genotypic and phenotypic spectrum of GJA12 related PMLD is unclear...