Peter Reilich

Summary

Affiliation: University of Munich
Country: Germany

Publications

  1. doi A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)
    Peter Reilich
    Friedrich Baur Institut, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    J Neurol 258:1437-44. 2011
  2. doi Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy
    Peter Reilich
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilian University of Munich, Ziemssenstr 1, Munich, Germany
    J Neurol 257:1108-18. 2010
  3. doi The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy
    Peter Reilich
    Friedrich Baur Institute, Department of Neurology, University of Munich, D 80336 Munich, Germany
    Neuromuscul Disord 20:255-9. 2010
  4. ncbi Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy
    Juliane S Muller
    Department of Neurology, Friedrich Baur Institute, Lab for Molecular Myology, Ludwig Maximilians University, Marchioninistr 17, 81377 Munich, Germany
    Neuromuscul Disord 16:432-6. 2006
  5. doi The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene
    Peter Reilich
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    J Neurol 258:1987-97. 2011
  6. ncbi Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy
    Maggie C Walter
    Friedrich Baur Institute, Gene Center and Department of Neurology, Ludwig Maximilians University of Munich, Munich, Germany
    Neuromuscul Disord 15:40-4. 2005
  7. pmc Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial
    Maggie C Walter
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Ziemssenstr 1a, Munich 80336, Germany
    Orphanet J Rare Dis 8:26. 2013
  8. doi Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol
    Nicolai Schramm
    Institute for Clinical Radiology, Ludwig Maximilians University, Ziemssenstr 1, 80336, Munich, Germany
    Eur Radiol 18:2922-36. 2008
  9. ncbi Muscle pathology in 57 patients with myotonic dystrophy type 2
    Benedikt G H Schoser
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University of Munich, Ziemssenstr 1a, D 80336 Munich, Germany
    Muscle Nerve 29:275-81. 2004
  10. ncbi Creatine monohydrate in myotonic dystrophy: a double-blind, placebo-controlled clinical study
    Maggie C Walter
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Ziemssenstr 1a, 80336 Munich, Germany
    J Neurol 249:1717-22. 2002

Collaborators

Detail Information

Publications10

  1. doi A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)
    Peter Reilich
    Friedrich Baur Institut, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    J Neurol 258:1437-44. 2011
    ..We conclude, that MYOT mutations need to be considered as a rare cause of adult-onset, dominant LGMD without clear-cut MFM pathology...
  2. doi Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy
    Peter Reilich
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilian University of Munich, Ziemssenstr 1, Munich, Germany
    J Neurol 257:1108-18. 2010
    ..Clinically, the patients suffered from weakness and atrophy predominantly of the lower limb muscles. In conclusion, we suggest considering FSHD in the differential diagnosis of adult-onset distal myopathies with rimmed vacuoles...
  3. doi The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy
    Peter Reilich
    Friedrich Baur Institute, Department of Neurology, University of Munich, D 80336 Munich, Germany
    Neuromuscul Disord 20:255-9. 2010
    ..The mutation affects a residue in a highly preserved domain of alpha-B crystallin and has been identified earlier in patients with isolated cardiomyopathy...
  4. ncbi Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy
    Juliane S Muller
    Department of Neurology, Friedrich Baur Institute, Lab for Molecular Myology, Ludwig Maximilians University, Marchioninistr 17, 81377 Munich, Germany
    Neuromuscul Disord 16:432-6. 2006
    ..This is the first splicing mutation reported for CAV3. These findings add to the clinical and genetic variability of CAV3 mutations...
  5. doi The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene
    Peter Reilich
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    J Neurol 258:1987-97. 2011
    ..Beta-adrenergic agents may be beneficial in improving triacylglycerol breakdown in patients with PNPLA2 mutations...
  6. ncbi Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy
    Maggie C Walter
    Friedrich Baur Institute, Gene Center and Department of Neurology, Ludwig Maximilians University of Munich, Munich, Germany
    Neuromuscul Disord 15:40-4. 2005
    ..Thus, the mutation with this unique phenotypical expression represents the first example for a link between the neurogenic and myogenic phenotypes and extends the clinical variability of laminopathies...
  7. pmc Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial
    Maggie C Walter
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Ziemssenstr 1a, Munich 80336, Germany
    Orphanet J Rare Dis 8:26. 2013
    ..DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B)...
  8. doi Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol
    Nicolai Schramm
    Institute for Clinical Radiology, Ludwig Maximilians University, Ziemssenstr 1, 80336, Munich, Germany
    Eur Radiol 18:2922-36. 2008
    ..WB-MRI could be more useful than dedicated examinations for differential diagnosis, muscle biopsy planning and noninvasive follow-up examinations...
  9. ncbi Muscle pathology in 57 patients with myotonic dystrophy type 2
    Benedikt G H Schoser
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University of Munich, Ziemssenstr 1a, D 80336 Munich, Germany
    Muscle Nerve 29:275-81. 2004
    ..With a better understanding of the histopathological pattern in DM2, biopsies from patients with undiagnosed neuromuscular disorders can now be reevaluated...
  10. ncbi Creatine monohydrate in myotonic dystrophy: a double-blind, placebo-controlled clinical study
    Maggie C Walter
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Ziemssenstr 1a, 80336 Munich, Germany
    J Neurol 249:1717-22. 2002
    ..Cr supplementation was well tolerated without clinically relevant side effects, but did not result in significant improvement of muscle strength or daily-life activities...