Joachim Schessl

Summary

Affiliation: University of Munich
Country: Germany

Publications

  1. ncbi Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy
    Joachim Schessl
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Germany
    Muscle Nerve 45:740-2. 2012
  2. ncbi Reducing body myopathy and other FHL1-related muscular disorders
    Joachim Schessl
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University of Munich, Germany
    Semin Pediatr Neurol 18:257-63. 2011
  3. ncbi Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque components
    Sarah Feldkirchner
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
    Proteomics 12:3598-609. 2012
  4. ncbi 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

Collaborators

Detail Information

Publications4

  1. ncbi Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy
    Joachim Schessl
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Germany
    Muscle Nerve 45:740-2. 2012
    ..Mutations in the anoctamin 5 gene (ANO5) have been recently identified.They cause limb girdle muscular dystrophy (LGMD2L) and Miyoshi muscular dystrophy...
  2. ncbi Reducing body myopathy and other FHL1-related muscular disorders
    Joachim Schessl
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University of Munich, Germany
    Semin Pediatr Neurol 18:257-63. 2011
    ..This correlation will frequently lead to a considerably expanded clinical spectrum associated with a given FHL1 mutation...
  3. ncbi Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque components
    Sarah Feldkirchner
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
    Proteomics 12:3598-609. 2012
    ..The FHL1 mutation-specific pattern was validated for four patients with respect to desmin, SQSTM, and FHL1 by immunohistochemistry...
  4. ncbi 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...