B Schoser

Summary

Affiliation: University of Munich
Country: Germany

Publications

  1. pmc Ocular myositis: diagnostic assessment, differential diagnoses, and therapy of a rare muscle disease - five new cases and review
    Benedikt Gh Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Germany
    Clin Ophthalmol 1:37-42. 2007
  2. pmc The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?
    Robin Lachmann
    Friedrich Baur Institut, Neurologische Klinik, Klinikum der Universitat Munchen, Munchen, Germany
    Orphanet J Rare Dis 8:160. 2013
  3. ncbi request reprint Extraocular mitochondrial myopathies and their differential diagnoses
    Benedikt G H Schoser
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
    Strabismus 14:107-13. 2006
  4. doi request reprint Consequences of mutations within the C terminus of the FHL1 gene
    B Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstr 1a, 80336 Munich, Germany
    Neurology 73:543-51. 2009
  5. ncbi request reprint Physiology, pathophysiology and diagnostic significance of autophagic changes in skeletal muscle tissue--towards the enigma of rimmed and round vacuoles
    B Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstrasse 1a, 80336 Munich, Germany
    Clin Neuropathol 28:59-70. 2009
  6. ncbi request reprint A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene
    Benedikt G H Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstrasse 1a, 80336 Munich, and Department of Neuropathology, University Hospital, RWTH Aachen, Germany
    Muscle Nerve 35:599-606. 2007
  7. ncbi request reprint Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited
    B G H Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Neuropathol Appl Neurobiol 33:544-59. 2007
  8. doi request reprint Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two
    Benedikt Schoser
    Department of Neurology, Friedrich Baur Institute, University of Munich, Ziemssenstr 1a, D 80336 Munich, Germany
    Neuromuscul Disord 19:223-8. 2009
  9. pmc Unclassified polysaccharidosis of the heart and skeletal muscle in siblings
    Benedikt Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Munich, Germany
    Mol Genet Metab 95:52-8. 2008
  10. ncbi request reprint [Inflammatory myopathies]
    B Schoser
    Friedrich Baur Institut, Neurologische Klinik, Ludwig Maximilians Universitat Munchen, Munchen
    Z Rheumatol 68:665-75; quiz 676-7. 2009

Collaborators

Detail Information

Publications32

  1. pmc Ocular myositis: diagnostic assessment, differential diagnoses, and therapy of a rare muscle disease - five new cases and review
    Benedikt Gh Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Germany
    Clin Ophthalmol 1:37-42. 2007
    ..Compiled data of five patients and a review of the clinical pattern, diagnostic procedures, differential diagnoses, and current treatment options are given...
  2. pmc The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?
    Robin Lachmann
    Friedrich Baur Institut, Neurologische Klinik, Klinikum der Universitat Munchen, Munchen, Germany
    Orphanet J Rare Dis 8:160. 2013
    ....
  3. ncbi request reprint Extraocular mitochondrial myopathies and their differential diagnoses
    Benedikt G H Schoser
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
    Strabismus 14:107-13. 2006
    ..In addition, Southern blotting may reveal the common deletion, or molecular analysis may verify specific mutations of distinct mitochondrial or nuclear genes...
  4. doi request reprint Consequences of mutations within the C terminus of the FHL1 gene
    B Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstr 1a, 80336 Munich, Germany
    Neurology 73:543-51. 2009
    ..Divergences in these diseases are hitherto unclear; therefore, we searched for additional families to elucidate differences and similarities of these allelic FHL1opathies...
  5. ncbi request reprint Physiology, pathophysiology and diagnostic significance of autophagic changes in skeletal muscle tissue--towards the enigma of rimmed and round vacuoles
    B Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstrasse 1a, 80336 Munich, Germany
    Clin Neuropathol 28:59-70. 2009
    ....
  6. ncbi request reprint A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene
    Benedikt G H Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstrasse 1a, 80336 Munich, and Department of Neuropathology, University Hospital, RWTH Aachen, Germany
    Muscle Nerve 35:599-606. 2007
    ..In older patients, sodium channelopathies may mimic the phenotypic features of myotonic dystrophy type 2...
  7. ncbi request reprint Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited
    B G H Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Neuropathol Appl Neurobiol 33:544-59. 2007
    ..These findings may have implications for our understanding of the pathogenesis of GSD2 and for assessing therapeutic success of enzyme replacement therapy...
  8. doi request reprint Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two
    Benedikt Schoser
    Department of Neurology, Friedrich Baur Institute, University of Munich, Ziemssenstr 1a, D 80336 Munich, Germany
    Neuromuscul Disord 19:223-8. 2009
    ..Since the generalized MG and iRMD improved with immunosuppressive treatments, it is likely that both are caused by autoantibodies, but the target for pathogenic antibodies in iRMD requires further study...
  9. pmc Unclassified polysaccharidosis of the heart and skeletal muscle in siblings
    Benedikt Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Munich, Germany
    Mol Genet Metab 95:52-8. 2008
    ..Up to now unidentified glycogen synthesis or glycogen degradation pathways are supposed to contribute to this idiopathic glycogen storage disease...
  10. ncbi request reprint [Inflammatory myopathies]
    B Schoser
    Friedrich Baur Institut, Neurologische Klinik, Ludwig Maximilians Universitat Munchen, Munchen
    Z Rheumatol 68:665-75; quiz 676-7. 2009
    ..This re-classification reflects the well-known and clinically evident therapeutic dilemma in many of these patients. Thus the indication for muscle biopsy or rebiopsy requires new consideration and attention...
  11. ncbi request reprint Evoked potentials during active horizontal head rotations in patients with vertigo
    Benedikt G H Schoser
    Klinik fur Neurologie, Universitätsklinikum Hamburg Eppendorf Martinistr 52, D 20246 Hamburg, Germany
    Neurol Res 27:666-71. 2005
    ..The purpose of this study was to investigate whether evoked potentials by active head rotation help to verify and topographically differentiate patients with the major symptom vertigo...
  12. ncbi request reprint [Lipid lowering drug and other toxic myopathies]
    B G H Schoser
    Friedrich Baur Institut, Neurologische Klinik der Ludwig Maximilians Universität München
    Internist (Berl) 46:1198-206. 2005
    ..Drug-induced myopathies are most frequently seen due to amplified utilization of corticosteroids or lipid lowering agents...
  13. doi request reprint Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3
    Benedikt Schoser
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University of Munich, Munich, Germany
    Am J Med Genet A 146:2911-5. 2008
    ..Even heterozygous p.W1327X mutation carriers may present with mild non-progressive neuromuscular symptoms, such as exercise-induced myalgia and fatigue...
  14. ncbi request reprint Sudden cardiac death in myotonic dystrophy type 2
    B G H Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstr 1a, 80336 Munich, Germany
    Neurology 63:2402-4. 2004
    ..Cardiac histopathology showed dilated cardiomyopathy in all, and conduction system fibrosis in two patients. Pathogenetic CCUG ribonuclear inclusions were demonstrable in cardiomyocytes...
  15. ncbi request reprint Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H
    Benedikt G H Schoser
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
    Ann Neurol 57:591-5. 2005
    ..The TRIM32 mutation found in the STM patients is identical to the causative mutation for LGMD2H (D487N), Haplotype analysis shows that the disease chromosomes share common ancestry...
  16. ncbi request reprint Homozygosity for CCTG mutation in myotonic dystrophy type 2
    Benedikt G H Schoser
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Ziemssenstr 1a, D 80336 Munich, Germany
    Brain 127:1868-77. 2004
    ..None of these children have signs or symptoms of disease until the age of 18 years. Homozygosity for the DM2 expansion does not seem to alter the disease phenotype as compared with the heterozygous state...
  17. ncbi request reprint Muscle pathology in 57 patients with myotonic dystrophy type 2
    Benedikt G H Schoser
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University of Munich, Ziemssenstr 1a, D 80336 Munich, Germany
    Muscle Nerve 29:275-81. 2004
    ..With a better understanding of the histopathological pattern in DM2, biopsies from patients with undiagnosed neuromuscular disorders can now be reevaluated...
  18. ncbi request reprint Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy
    Juliane S Muller
    Department of Neurology, Friedrich Baur Institute, Lab for Molecular Myology, Ludwig Maximilians University, Marchioninistr 17, 81377 Munich, Germany
    Neuromuscul Disord 16:432-6. 2006
    ..This is the first splicing mutation reported for CAV3. These findings add to the clinical and genetic variability of CAV3 mutations...
  19. doi request reprint Side effects of anesthesia in DM2 as compared to DM1: a comparative retrospective study
    L Kirzinger
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University Munich, Munich, Germany
    Eur J Neurol 17:842-5. 2010
    ..Myotonic dystrophy type 2 (DM2) is an adult-onset progressive multisystem disease. There have been no reported risks for anesthesia in DM2...
  20. ncbi request reprint The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
    Klaus Gempel
    Metabolic Disease Center Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics Academic Hospital Schwabing, Munich, Germany
    Brain 130:2037-44. 2007
    ..We suggest to give patients both CoQ10 and riboflavin supplementation, especially for long-term treatment...
  21. ncbi request reprint Motor excitability in myopathy
    Joachim Liepert
    Department of Neurology, University of Hamburg, University Hospital Eppendorf, Martini Strasse 52, D 20246 Hamburg, Germany
    Clin Neurophysiol 115:85-9. 2004
    ..To explore whether patients with myopathy present changes in motoneuronal excitability...
  22. doi request reprint [Congenital and endogenous endocrine myopathy]
    S Wenninger
    Friedrich Baur Institut, Neurologische Klinik, Interdisziplinäres Zentrum für Neuromuskuläre Erkrankungen der Ludwig Maximilians Universität München, Deutschland
    Z Rheumatol 70:760-2, 764-6. 2011
    ..Endocrine myopathies are usually reversible by treatment of the underlying disease. The severity of the endocrinopathy is of fundamental importance for the long-term clinical outcome...
  23. doi request reprint [Lipid storage myopathies. A clinical and pathobiochemical challenge]
    T Skuban
    Friedrich Baur Institut, Neurologische Klinik, Klinikum der Universitat Munchen, Ziemssenstraße 1a, 80336, Munchen
    Nervenarzt 81:1460-6. 2010
    ..This article provides a synopsis of several new aspects of pathophysiology, symptoms, diagnostic tools and current therapeutic approaches of lipid storage myopathies...
  24. ncbi request reprint Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892 1820, USA
    Autophagy 3:546-52. 2007
    ..Clearing or preventing autophagic buildup seems, therefore, a necessary target of Pompe disease therapy...
  25. ncbi request reprint Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy
    Sabine Rudnik-Schoneborn
    Institute for Human Genetics, RWTH Aachen University, Pauwelsstr 30, 52074 Aachen, Germany
    Neurogenetics 8:137-42. 2007
    ..Particularly, if neurogenic atrophy is combined with a cardiac disease in a family, this should prompt LMNA mutation analysis...
  26. ncbi request reprint Pathological consequences of VCP mutations on human striated muscle
    Christian U Hübbers
    Institute of Biochemistry I, University of Cologne, Cologne, Germany
    Brain 130:381-93. 2007
    ..The latter findings provide a novel link to VCP carbohydrate interactions in the complex pathology of IBMPFD...
  27. pmc Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract
    Christina L Liquori
    Institute of Human Genetics, and Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN 55455, USA
    Am J Hum Genet 73:849-62. 2003
    ..The complex repeat motif and flanking sequences within intron 1 are conserved among human, chimpanzee, gorilla, mouse, and rat, suggesting a conserved biological function...
  28. ncbi request reprint Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease
    Christian Kubisch
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Ann Neurol 53:512-20. 2003
    ..Thus, we further extend the phenotypic variability of muscle caveolinopathies by identification of a severe form of RMD associated with homozygous CAV3 mutations...
  29. ncbi request reprint Myotonic dystrophies type 1 and 2: a summary on current aspects
    Ulrike Schara
    Department of Neuropediatrics, City Hospital Neuss, Neuss, Germany
    Semin Pediatr Neurol 13:71-9. 2006
    ..Here we summarize current aspects of the myotonic dystrophy pathogenesis and review the core features of both types of myotonic dystrophies, including the congenital DM1...
  30. ncbi request reprint Age related profiles of free amino acids in human skeletal muscle
    Hans Joerg Stuerenburg
    Neurological Department, Median Klinik Bad Suelze, Bad Suelze, Germany
    Neuro Endocrinol Lett 27:133-6. 2006
    ..This study provides evidence, that alteration of glutamine is correlated to aging and might reflect increased proteolysis in aged and diseased human skeletal muscle...
  31. ncbi request reprint Differential expression of nitric oxide synthases (NOS 1-3) in human skeletal muscle following exercise countermeasure during 12 weeks of bed rest
    Jana Rudnick
    Department of Anatomy, Campus Benjamin Franklin, Charite University Medicine Berlin, Germany
    FASEB J 18:1228-30. 2004
    ....
  32. ncbi request reprint Rippling muscle disease in childhood
    Ulrike Schara
    Department of Pediatrics, Ruhr University Bochum, Germany
    J Child Neurol 17:483-90. 2002
    ..Muscle biopsy must be considered in patients without muscle weakness or mechanical hyperirritability to differentiate between rippling muscle disease and limb-girdle muscular dystrophy 1C...