Joachim Schessl

Summary

Affiliation: University of Munich
Country: Germany

Publications

  1. ncbi request reprint 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. doi request reprint 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. doi request reprint Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy
    Sarah Feldkirchner
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Neuromuscul Disord 23:418-26. 2013
  4. ncbi request reprint Novel recessive myotilin mutation causes severe myofibrillar myopathy
    Joachim Schessl
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Ziemssenstr 1 a, 80336, Munich, Germany
    Neurogenetics 15:151-6. 2014
  5. doi request reprint 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
  6. 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
  7. ncbi request reprint 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

Publications7

  1. ncbi request reprint 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. doi request reprint 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. doi request reprint Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy
    Sarah Feldkirchner
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Neuromuscul Disord 23:418-26. 2013
    ..As all clinical subtypes and mutations in each exon of the FHL1 gene are associated with myofibrillar alterations and reducing bodies, we would like to suggest terming the whole group as FHL1-associated myopathies...
  4. ncbi request reprint Novel recessive myotilin mutation causes severe myofibrillar myopathy
    Joachim Schessl
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Ziemssenstr 1 a, 80336, Munich, Germany
    Neurogenetics 15:151-6. 2014
    ..We suggest that the combined approach has a high potential as a new tool for the confirmation of unclassified variants which are found in whole-exome sequencing approaches. ..
  5. doi request reprint 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...
  6. 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)...
  7. ncbi request reprint 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...