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. doi Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)
    T Kroepfl
    Department of Paediatrics and Adolescence Medicine, Medical University Graz, Graz, Austria
    Clin Genet 73:492-5. 2008
  5. 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
  6. ncbi Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
    M Schuelke
    Nat Genet 21:260-1. 1999
  7. 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
  8. 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
  9. 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

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

Detail Information

Publications9

  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. doi Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)
    T Kroepfl
    Department of Paediatrics and Adolescence Medicine, Medical University Graz, Graz, Austria
    Clin Genet 73:492-5. 2008
    ..Loss of these two genes seems to be responsible for the severe mental retardation and mild facial dysmorphic features in our young patient. It might show the phenotypic picture of this specified deletion...
  5. 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...
  6. ncbi Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
    M Schuelke
    Nat Genet 21:260-1. 1999
  7. 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...
  8. 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
    ....
  9. 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...