Research Topics
Genomes and GenesSpecies | Dirk FischerSummaryAffiliation: University of Bonn Country: Germany Publications
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Detail Information
Publications
Different early pathogenesis in myotilinopathy compared to primary desminopathyDirk 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...- On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondriaRolf 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... - On symptomatic heterozygous alpha-sarcoglycan gene mutation carriersDirk 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... - Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patientsRudolf 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... - Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathiesChristoph 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... 
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathiesKatharina 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...- Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDsDirk 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... - Expression, localization and functional divergence of alphaB-crystallin and heat shock protein 27 in core myopathies and neurogenic atrophyDirk Fischer
Department of Neurology, University Hospital Bonn, , Sigmund-Freud-Str. 25, 53105 Bonn, Germany
Acta Neuropathol (Berl) 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... - On the early diagnosis of IVIg-responsive chronic multifocal acquired motor axonopathyDirk 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... - Consequences of a novel caveolin-3 mutation in a large German familyDirk 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... - Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitroHarald 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... - Characterization of the muscle involvement in dynamin 2-related centronuclear myopathyDirk Fischer
, Institut de Myologie IFR14, , 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... - Variable pathogenic potentials of mutations located in the desmin alpha-helical domainBertrand Goudeau
EA300, , 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... - Phenotypic patterns of desminopathy associated with three novel mutations in the desmin geneMontse Olive
Institut de Neuropatologia, IDIBELL Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain
Neuromuscul Disord 17:443-50. 2007.... - Myotilinopathy: refining the clinical and myopathological phenotypeMontse Olive
Institut de Neuropatologia, IDIBELL Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain
Brain 128:2315-26. 2005.... - Granulomatous myositis associated with antithyroglobulin and antithyroid peroxidase antibodies: an analogy to Hashimoto's encephalitis?Dirk Fischer
J Neurol 249:1453-4. 2002 - Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation studyInes Dierick
Peripheral Neuropathy Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
Brain 131:1217-27. 2008....