Research Topics
Genomes and Genes | Rolf SchroderSummaryAffiliation: University of Bonn Country: Germany Publications
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Publications
Mutant valosin-containing protein causes a novel type of frontotemporal dementiaRolf Schroder
Department of Neurology, University Hospital Bonn, Sigmund Freud Strasse 25, 53105 Bonn, Germany
Ann Neurol 57:457-61. 2005..We demonstrate that mutant VCP causes a novel type of frontotemporal dementia characterized by neuronal nuclear inclusions containing ubiquitin and VCP...- Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rodsR Schroder
Department of Neurology, University of Bonn, 53105 Bonn, Germany
Neuromuscul Disord 13:451-5. 2003.... 
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathyMatthias Vorgerd
Department of Neurology, Neuromuscular Center Ruhrgebiet, Ruhr University Bochum, Bochum, Germany
Am J Hum Genet 77:297-304. 2005..As a consequence of this malfunction, the muscle fibers of our patients display massive cytoplasmic aggregates containing filamin c and several Z-disk-associated and sarcolemmal proteins...- 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... 
Health-related quality of life in ALS, myasthenia gravis and facioscapulohumeral muscular dystrophyYaroslav Winter
Department of Neurology, Philipps University Marburg, Rudolf Bultmannstr 8, Marburg, Germany
J Neurol 257:1473-81. 2010..In addition to the treatment of motor symptoms, greater attention should be paid to the treatment of depression, which was found to be among the independent predictors of the HRQoL in ALS and MG...- Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophyRolf Schroder
Department of Neurology, University of Bonn, Germany
J Neuropathol Exp Neurol 61:520-30. 2002..Beyond EBS-MD, our data may contribute to the understanding of other myopathies characterized by sarcoplasmic IF accumulations such as desminopathies or alpha-B-crystallinopathies... - Primary longitudinal adhesion structures: plectin-containing precursors of costameres in differentiating human skeletal muscle cellsRolf Schroder
Department of Neurology, University of Bonn, 53105 Bonn, Germany
Histochem Cell Biol 118:301-10. 2002..After the occurrence of spontaneous contractions, these structures reorient and mature costameres are assembled... - 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... - 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... - Cardiac conduction disturbances and differential effects on atrial and ventricular electrophysiological properties in desmin deficient miceJan Wilko Schrickel
Department of Medicine Cardiology, University of Bonn, Sigmund Freud Strasse 25, 53105 Bonn, Germany
J Interv Card Electrophysiol 28:71-80. 2010..The aim of the present study was to characterize electrophysiological cardiac properties in a desmin-deficient mouse model... - 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... - Socioeconomic burden of amyotrophic lateral sclerosis, myasthenia gravis and facioscapulohumeral muscular dystrophyKarsten Schepelmann
Department of Neurology, Philipps University Marburg, Marburg, Germany
J Neurol 257:15-23. 2010..The socioeconomic burden of NMDs in Germany is considerable. Further studies evaluating both the health-economic and clinical effects of NMD treatment as well as disease management programs and benchmarking activities are necessary... - Pax7 distribution in human skeletal muscle biopsies and myogenic tissue culturesJens Reimann
Department of Neurology, University of Bonn, Sigmund Freud Strasse 25, 53105 Bonn, Germany
Cell Tissue Res 315:233-42. 2004..Most of these were found to be the nuclei of cells engaged in focal regenerative processes, but Pax7 re-expression by myonuclei "in distress" cannot be ruled out entirely... - Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegiaCornelia Kornblum
Department of Neurology, University of Bonn Medical Center, Bonn, D 53105, Germany
Biosci Rep 28:89-96. 2008..Thus homoplasmic mutations may influence the functional consequences of pathogenic heteroplasmic mtDNA mutations... - IFN-beta1a (Rebif) modifies the expression of microfilament-associated cell-cell contacts in C6 glioma cellsMichael Harzheim
Department of Neurology, University of Bonn, Sigmund Freud Strasse 25, D 53105 Bonn, Germany
J Interferon Cytokine Res 23:83-9. 2003..This effect may also contribute to the therapeutic action of IFN-beta1a in MS... - Suprascapular nerve entrapment by a spinoglenoid cystAlexander Semmler
Department of Neurology, University Bonn, Germany
Neurology 70:890. 2008 - Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2 : a whole body highfield MRI studyCornelia Kornblum
Department of Neurology, University of Bonn, Sigmund Freud Strasse 25, 53105 Bonn, Germany
J Neurol 253:753-61. 2006..In contrast, MRI was no reliable indicator for skeletal muscle involvement in mildly affected DM2 patients since myalgia and mild paresis were usually not reflected by MRI signal alterations... - 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... - Mitochondrial dysfunction in myofibrillar myopathyJens Reimann
Department of Neurology, University of Bonn, Germany
Neuropathol Appl Neurobiol 29:45-51. 2003..Together with data from observations in desmin- and plectin-deficient mice, our results support the view that desmin intermediate filament pathology in these cases is closely linked to mitochondrial dysfunction in skeletal muscle... - Enhanced heterogeneity of myocardial conduction and severe cardiac electrical instability in annexin A7-deficient miceJan W Schrickel
Department of Medicine Cardiology, University of Bonn, Germany
Cardiovasc Res 76:257-68. 2007..We investigated the impact of annexin A7 on cardiac electrophysiological properties using an annexin A7-deficient mouse strain (annexin A7(-/-))... - Metabolic consequences of a novel missense mutation of the mtDNA CO I geneDmitry A Varlamov
Department of Epileptology, University of Bonn Medical Center, Sigmund Freud Strasse 25, D 53105 Bonn, Germany
Hum Mol Genet 11:1797-805. 2002..This is due to a 2-fold increase of COX flux control on muscle fiber respiration and a 30% decrease of COX metabolic threshold, supporting the concept of tight COX control of oxidative phosphorylation in skeletal muscle... - Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2Martina Minnerop
Department of Neurology, University Hospital of Bonn, Sigmund Freud Strasse 25, Bonn, Germany
J Neurol 255:1904-9. 2008..The reduced size of the corpus callosum further extends the spectrum of white matter changes in DM2 and may represent the morphological substrate of neuropsychological abnormalities previously described in this disorder... - The expression of microfilament-associated cell-cell contacts in brain endothelial cells is modified by IFN-beta1a (Rebif)Michael Harzheim
Department of Neurology, University of Bonn, Germany
J Interferon Cytokine Res 24:711-6. 2004..This action of IFN-beta1a may contribute to its beneficial effects in MS therapy... - Variability of the recessive oculopharyngeal muscular dystrophy phenotypeAlexander Semmler
Department of Neurology, University Hospital Bonn, Germany
Muscle Nerve 35:681-4. 2007..We conclude that the apparent rarity of the autosomal-recessive form of OPMD may be due to the fact that genetic testing is generally administered only to patients with typical clinical features or a positive family history... - 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... - 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... - 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... - Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosisThorsten Okulla
Department of Neurology, University of Bonn, Sigmund-Freud-Str. 25, 53105, Bonn, Germany
Graefes Arch Clin Exp Ophthalmol 243:380-2. 2005..To establish the diagnosis, molecular genetic testing of DNA derived from skeletal muscle tissue is essential in those patients... - Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2Cornelia Kornblum
Department of Neurology, University of Bonn, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany
J Neurol 251:710-4. 2004..Our findings indicate a high frequency of central nervous system (CNS) involvement in both disorders. However, temporopolar pathology, previously associated with intellectual dysfunction, seems to be restricted to DM1...