Ulrike Schara

Summary

Country: Germany

Publications

  1. doi request reprint Congenital myasthenic syndromes: current diagnostic and therapeutic approaches
    Ulrike Schara
    Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany
    Neuropediatrics 43:184-93. 2012
  2. 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
  3. doi request reprint Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations
    Ulrike Schara
    Dept of Paediatric Neurology, University of Essen, Hufelandstr 55, D 45122 Essen, Germany
    Eur J Paediatr Neurol 14:326-33. 2010
  4. doi request reprint Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations
    U Schara
    Dept of Pediatric Neurology, University of Essen, Germany
    Neuromuscul Disord 19:828-32. 2009
  5. doi request reprint Therapeutic strategies in congenital myasthenic syndromes
    Ulrike Schara
    Department of Pediatric Neurology, University of Essen, Essen, Germany
    Neurotherapeutics 5:542-7. 2008
  6. pmc NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome
    Adela Della Marina
    Pediatric Neurology, University of Essen, Essen, Germany
    JIMD Rep 10:17-22. 2013
  7. doi request reprint Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
    Ulrike Schara
    Pediatric Neurology, University of Essen, Essen, Germany
    J Inherit Metab Dis 34:197-201. 2011
  8. 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
  9. 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
  10. ncbi request reprint CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn
    Juliane S Muller
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
    Brain 129:2784-93. 2006

Collaborators

Detail Information

Publications15

  1. doi request reprint Congenital myasthenic syndromes: current diagnostic and therapeutic approaches
    Ulrike Schara
    Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany
    Neuropediatrics 43:184-93. 2012
    ..This article provides an overview of specific clinical symptoms, diagnostic work-up, and care including possible pharmacotherapy in case of CMS...
  2. 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...
  3. doi request reprint Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations
    Ulrike Schara
    Dept of Paediatric Neurology, University of Essen, Hufelandstr 55, D 45122 Essen, Germany
    Eur J Paediatr Neurol 14:326-33. 2010
    ..Between crises symptoms may be mild and variable. Acetylcholinesterase - inhibitor therapy is reported to improve clinical symptoms and reduce crises...
  4. doi request reprint Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations
    U Schara
    Dept of Pediatric Neurology, University of Essen, Germany
    Neuromuscul Disord 19:828-32. 2009
    ..These investigations are appropriate to confirm the diagnosis in case of pathological results, but they might not be appropriate means to monitor patients under ephedrine therapy...
  5. doi request reprint Therapeutic strategies in congenital myasthenic syndromes
    Ulrike Schara
    Department of Pediatric Neurology, University of Essen, Essen, Germany
    Neurotherapeutics 5:542-7. 2008
    ..In most CMS, however, mild and severe clinical courses are reported, which makes assessment on an individual basis necessary. This review emphasizes therapeutic strategies in CMS...
  6. pmc NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome
    Adela Della Marina
    Pediatric Neurology, University of Essen, Essen, Germany
    JIMD Rep 10:17-22. 2013
    ..Being untargeted to specific genes, whole exome analysis has the potential to re-write the phenotype and reveal an unexpected molecular aetiology, as illustrated by this family...
  7. doi request reprint Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
    Ulrike Schara
    Pediatric Neurology, University of Essen, Essen, Germany
    J Inherit Metab Dis 34:197-201. 2011
    ..We suggest that TRMU deficiency should be considered in infants with acute liver disease...
  8. 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
    ....
  9. 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...
  10. ncbi request reprint CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn
    Juliane S Muller
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
    Brain 129:2784-93. 2006
    ..Introduction of the same mutation in the epsilon subunit had no effect on AChR clustering indicating a special role of the delta subunit in AChR-rapsyn interactions...
  11. 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...
  12. 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...
  13. 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...
  14. 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...
  15. 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...