Dirk Fischer

Summary

Affiliation: University of Bonn
Country: Germany

Publications

  1. ncbi request reprint Different early pathogenesis in myotilinopathy compared to primary desminopathy
    Dirk Fischer
    Muskellabor, Department of Neurology, University of Bonn, Bonn, Germany
    Neuromuscul Disord 16:361-7. 2006
  2. ncbi request reprint On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
    Rolf Schroder
    Department of Neurology, University Hospital Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
    Hum Mol Genet 12:657-69. 2003
  3. ncbi request reprint On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers
    Dirk Fischer
    Muskellabor, Department of Neurology, University of Bonn, Sigmund Freud Strasse 25, 53105 Bonn, Germany
    Ann Neurol 54:674-8. 2003
  4. ncbi request reprint Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients
    Rudolf A Kley
    Department of Neurology, Neuromuscular Center Ruhrgebiet, Ruhr University Bochum, Bochum, Germany
    Brain 130:3250-64. 2007
  5. ncbi request reprint Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies
    Christoph S Clemen
    Department of Neurology, Medical Faculty, University of Bonn, Sigmund Freud Str 25, 53127 Bonn, FRG
    FEBS Lett 579:3777-82. 2005
  6. doi request reprint Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies
    Katharina Strach
    Department of Radiology, University Hospital Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
    Neuromuscul Disord 18:475-82. 2008
  7. ncbi request reprint Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
    Dirk Fischer
    Dept of Neurology, University of Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
    J Neurol 252:538-47. 2005
  8. ncbi request reprint Expression, localization and functional divergence of alphaB-crystallin and heat shock protein 27 in core myopathies and neurogenic atrophy
    Dirk Fischer
    Department of Neurology, University Hospital Bonn, Rheinische Friedrich Wilhelms Universitat, Sigmund Freud Str 25, 53105 Bonn, Germany
    Acta Neuropathol 104:297-304. 2002
  9. ncbi request reprint On the early diagnosis of IVIg-responsive chronic multifocal acquired motor axonopathy
    Dirk Fischer
    Department of Neurology, University of Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
    J Neurol 251:1204-7. 2004
  10. ncbi request reprint Consequences of a novel caveolin-3 mutation in a large German family
    Dirk Fischer
    Department of Neurology, University of Bonn, Germany
    Ann Neurol 53:233-41. 2003

Collaborators

Detail Information

Publications17

  1. ncbi request reprint Different early pathogenesis in myotilinopathy compared to primary desminopathy
    Dirk Fischer
    Muskellabor, Department of Neurology, University of Bonn, Bonn, Germany
    Neuromuscul Disord 16:361-7. 2006
    ..These findings suggest that unrelated molecular pathways may result in seemingly similar disease phenotypes at late disease stages...
  2. ncbi request reprint On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
    Rolf Schroder
    Department of Neurology, University Hospital Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
    Hum Mol Genet 12:657-69. 2003
    ..As a consequence, the intermediate filament pathology-induced mitochondrial dysfunction may contribute to the degeneration/regeneration process leading to progressive muscle dysfunction in human desminopathies...
  3. ncbi request reprint On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers
    Dirk Fischer
    Muskellabor, Department of Neurology, University of Bonn, Sigmund Freud Strasse 25, 53105 Bonn, Germany
    Ann Neurol 54:674-8. 2003
    ..This finding may be attributed to an additional negative variation in a yet unknown modifier gene essential to the function of the sarcoglycan complex in shoulder girdle muscles...
  4. ncbi request reprint Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients
    Rudolf A Kley
    Department of Neurology, Neuromuscular Center Ruhrgebiet, Ruhr University Bochum, Bochum, Germany
    Brain 130:3250-64. 2007
    ..Therapy is so far limited to symptomatic treatment. The German filaminopathy cohort, the largest group of patients studied so far, shares phenotypic features with LGMD and presents with characteristic histopathological findings of MFM...
  5. ncbi request reprint Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies
    Christoph S Clemen
    Department of Neurology, Medical Faculty, University of Bonn, Sigmund Freud Str 25, 53127 Bonn, FRG
    FEBS Lett 579:3777-82. 2005
    ..They indicated a shift of the main hsp27-spot to alkaline pH degrees, which may help to differentiate primary desminopathies from other myopathies with structural pathology of the desmin cytoskeleton...
  6. doi request reprint Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies
    Katharina Strach
    Department of Radiology, University Hospital Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
    Neuromuscul Disord 18:475-82. 2008
    ..Therefore, cardiac MRI may serve as a screening tool to identify patients at risk, which might benefit from early pharmacological and/or interventional (e.g. implantable cardioverter-defibrillator devices) therapy...
  7. ncbi request reprint Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
    Dirk Fischer
    Dept of Neurology, University of Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
    J Neurol 252:538-47. 2005
    ..Our results indicate that muscular MRI is a powerful tool for differentiating LGMD2I from other forms of autosomal recessive LGMDs and dystrophinopathies...
  8. ncbi request reprint Expression, localization and functional divergence of alphaB-crystallin and heat shock protein 27 in core myopathies and neurogenic atrophy
    Dirk Fischer
    Department of Neurology, University Hospital Bonn, Rheinische Friedrich Wilhelms Universitat, Sigmund Freud Str 25, 53105 Bonn, Germany
    Acta Neuropathol 104:297-304. 2002
    ..The latter findings imply a functional diversity of both shsps with a preferential association of hsp 27 with the actin microfilament system and alphaBC with the intermyofibrillar desmin cytoskeleton in human skeletal muscle...
  9. ncbi request reprint On the early diagnosis of IVIg-responsive chronic multifocal acquired motor axonopathy
    Dirk Fischer
    Department of Neurology, University of Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
    J Neurol 251:1204-7. 2004
    ..Our findings indicate that paraspinal EMG and anti-GD1a antibodies can facilitate the early identification of treatable, IVIg responsive, patients with MAMA...
  10. ncbi request reprint Consequences of a novel caveolin-3 mutation in a large German family
    Dirk Fischer
    Department of Neurology, University of Bonn, Germany
    Ann Neurol 53:233-41. 2003
    ..Different clinical phenotypes in caveolinopathies may be attributed to so far unidentified modifying factors/genes in the individual genetic background of affected patients...
  11. ncbi request reprint Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro
    Harald Bär
    Department of Cell Biology, German Cancer Research Center DKFZ, Heidelberg
    Hum Mol Genet 14:1251-60. 2005
    ..This disturbance of the lateral packing taking place in the first phase of assembly is ultimately leading to abnormal protein aggregation...
  12. ncbi request reprint Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy
    Dirk Fischer
    Institut National de la Sante et de la Recherche Médicale U582, Institut de Myologie IFR14, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Brain 129:1463-9. 2006
    ..The recognition of this specific imaging pattern of muscle involvement--distinct to the reported patterns in other congenital myopathies--may enable a better selection for direct genetic testing...
  13. ncbi request reprint Variable pathogenic potentials of mutations located in the desmin alpha-helical domain
    Bertrand Goudeau
    EA300, Universite Paris 7 Denis Diderot, Paris, France
    Hum Mutat 27:906-13. 2006
    ..Mutations within the highly conserved alpha-helical structures are especially damaging since the integrity of the alpha-helix is critical for desmin filament assembly and stability...
  14. ncbi request reprint Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene
    Montse Olive
    Institut de Neuropatologia, IDIBELL Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain
    Neuromuscul Disord 17:443-50. 2007
    ....
  15. ncbi request reprint Myotilinopathy: refining the clinical and myopathological phenotype
    Montse Olive
    Institut de Neuropatologia, IDIBELL Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain
    Brain 128:2315-26. 2005
    ....
  16. ncbi request reprint Granulomatous myositis associated with antithyroglobulin and antithyroid peroxidase antibodies: an analogy to Hashimoto's encephalitis?
    Dirk Fischer
    J Neurol 249:1453-4. 2002
  17. doi request reprint Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
    Ines Dierick
    Peripheral Neuropathy Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
    Brain 131:1217-27. 2008
    ....