Ulrike Schara

Summary

Country: Germany

Publications

  1. ncbi request reprint Rippling muscle disease in childhood
    Ulrike Schara
    Department of Pediatrics, Ruhr University Bochum, Germany
    J Child Neurol 17:483-90. 2002
  2. ncbi request reprint X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation
    Ulrike Schara
    Department of Pediatrics and Pediatric Neurology, Ruhr University Bochum, Germany
    Neurology 60:1363-5. 2003
  3. ncbi request reprint Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation
    Ulrike Schara
    Department of Paediatrics and Paediatric Neurology, Ruhr University Bochum, Alexandrinenstrasse 5, 44791 Bochum, Germany
    Eur J Pediatr 163:218-22. 2004
  4. ncbi request reprint The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy
    Ulrike Schara
    Department of Pediatric Neurology, University of Essen, Germany
    Eur J Paediatr Neurol 12:224-30. 2008
  5. ncbi request reprint Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
    Juliane S Muller
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Brain 130:1497-506. 2007
  6. doi request reprint Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes
    Violeta Mihaylova
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Brain 131:747-59. 2008
  7. ncbi request reprint Myotonic dystrophies type 1 and 2: a summary on current aspects
    Ulrike Schara
    Department of Neuropediatrics, City Hospital Neuss, Neuss, Germany
    Semin Pediatr Neurol 13:71-9. 2006
  8. ncbi request reprint Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR
    Larissa Arning
    Human Genetics, Ruhr University, Universitatsstrasse 150, 44801 Bochum, Germany
    J Neurol 251:72-8. 2004
  9. ncbi request reprint Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase
    Carolin Schmidt
    Department of Neurology, and Genzentrum, Ludwig Maximilians Universitat Munchen, Feodor Lynen Strasse 25, 81377 Munich, Germany
    Neuromuscul Disord 13:245-51. 2003
  10. ncbi request reprint A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome
    Juliane S Muller
    Department of Neurology and Gene Center, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
    Neuromuscul Disord 14:744-9. 2004

Collaborators

Detail Information

Publications10

  1. ncbi request reprint Rippling muscle disease in childhood
    Ulrike Schara
    Department of Pediatrics, Ruhr University Bochum, Germany
    J Child Neurol 17:483-90. 2002
    ..Muscle biopsy must be considered in patients without muscle weakness or mechanical hyperirritability to differentiate between rippling muscle disease and limb-girdle muscular dystrophy 1C...
  2. ncbi request reprint X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation
    Ulrike Schara
    Department of Pediatrics and Pediatric Neurology, Ruhr University Bochum, Germany
    Neurology 60:1363-5. 2003
    ..The authors describe a now 5-year-old girl with prenatal/neonatal onset of an X-linked myotubular myopathy due to a 605delT mutation in the myotubularin gene...
  3. ncbi request reprint Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation
    Ulrike Schara
    Department of Paediatrics and Paediatric Neurology, Ruhr University Bochum, Alexandrinenstrasse 5, 44791 Bochum, Germany
    Eur J Pediatr 163:218-22. 2004
    ..Mutation analysis revealed a novel homozygous single guanine insertion mutation (5588insG/5588insG) residing in the N-terminal part of exon 31 of the plectin gene...
  4. ncbi request reprint The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy
    Ulrike Schara
    Department of Pediatric Neurology, University of Essen, Germany
    Eur J Paediatr Neurol 12:224-30. 2008
    ..Major complications were early respiratory failure, impaired increase in weight and orthopedic problems. There seems to be no correlation between skeletal muscle weakness and respiratory failure...
  5. ncbi request reprint Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
    Juliane S Muller
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Brain 130:1497-506. 2007
    ....
  6. doi request reprint Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes
    Violeta Mihaylova
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Brain 131:747-59. 2008
    ..Moreover, overlap with other CMS subtypes and potentially absence of a repetitive compound muscle action potential should be considered in the diagnosis of COLQ-mutated patients...
  7. ncbi request reprint Myotonic dystrophies type 1 and 2: a summary on current aspects
    Ulrike Schara
    Department of Neuropediatrics, City Hospital Neuss, Neuss, Germany
    Semin Pediatr Neurol 13:71-9. 2006
    ..Here we summarize current aspects of the myotonic dystrophy pathogenesis and review the core features of both types of myotonic dystrophies, including the congenital DM1...
  8. ncbi request reprint Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR
    Larissa Arning
    Human Genetics, Ruhr University, Universitatsstrasse 150, 44801 Bochum, Germany
    J Neurol 251:72-8. 2004
    ..Our results define a uniform transcriptional profile of the dystrophic muscle characterized by degeneration and regeneration. Several genes encoding structural proteins appear remarkably highly expressed...
  9. ncbi request reprint Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase
    Carolin Schmidt
    Department of Neurology, and Genzentrum, Ludwig Maximilians Universitat Munchen, Feodor Lynen Strasse 25, 81377 Munich, Germany
    Neuromuscul Disord 13:245-51. 2003
    ..The observation of the same mutation (I336T) in two independent Turkish kinships may suggest a common origin, i.e. founder...
  10. ncbi request reprint A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome
    Juliane S Muller
    Department of Neurology and Gene Center, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
    Neuromuscul Disord 14:744-9. 2004
    ..Interestingly, an Alu-mediated unequal homologous recombination may have caused the deletion. We hypothesize that numerous interspersed Alu elements may predispose the RAPSN locus for genetic rearrangements...