J Michael Schröder

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. ncbi Oculopharyngeal muscle dystrophy: fine structure and mRNA expression levels of PABPN1
    J M Schroder
    Department of Neuropathology, University Hospital, RWTH Aachen, Germany
    Clin Neuropathol 30:94-103. 2011
  2. ncbi Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn)
    J M Schroder
    Department of Neuropathology, University Hospital, RWTH, Pauwelsstr 30, 52074 Aachen, Germany
    Acta Neuropathol 108:250-6. 2004
  3. ncbi Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency
    J M Schroder
    Department of Neuropathology, University Hospital, RWTH Aachen, Pauwelsstr 30, 52074 Aachen, Germany
    Acta Neuropathol 108:154-67. 2004
  4. ncbi Ferritinopathy: diagnosis by muscle or nerve biopsy, with a note on other nuclear inclusion body diseases
    J Michael Schröder
    Department of Neuropathology, University Hospital, Rheinisch Westfälische Technische Hochschule Aachen, Germany
    Acta Neuropathol 109:109-14. 2005
  5. ncbi Neuropathology of Charcot-Marie-Tooth and related disorders
    J Michael Schröder
    Department of Neuropathology, University Hospital, RWTH Aachen, Germany
    Neuromolecular Med 8:23-42. 2006
  6. ncbi The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy
    Stephan Zuchner
    Institut für Neuropathologie, Universitätsklinikum der RWTH Aachen, Pauwelsstrasse 32, 52074 Aachen, Germany
    Neuromuscul Disord 14:147-57. 2004
  7. ncbi Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene
    Kay W Nolte
    Department of Neuropathology, RWTH Aachen University Hospital, Pauwelsstr 30, 52074, Aachen, Germany
    Acta Neuropathol 116:491-506. 2008
  8. ncbi A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease
    Stephan Zuchner
    Department of Neuropathology, University Hospital, Technical University of Aachen, Aachen, Germany
    Brain 126:920-7. 2003
  9. ncbi SOX10 mutation with peripheral amyelination and developmental disturbance of axons
    Kathleen Parthey
    Clinic and Policlinic for Child and Adolescent Medicine, Neonatal Intensive Care Unit, University Hospital, Halle, Saale, Germany
    Muscle Nerve 45:284-90. 2012
  10. ncbi Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Nat Genet 37:1312-4. 2005

Collaborators

Detail Information

Publications14

  1. ncbi Oculopharyngeal muscle dystrophy: fine structure and mRNA expression levels of PABPN1
    J M Schroder
    Department of Neuropathology, University Hospital, RWTH Aachen, Germany
    Clin Neuropathol 30:94-103. 2011
    ..Two models are under consideration: the first model is the polymerase slippage mechanism. The second model is unequal crossing over. The aim of the present study is to correlate clinical, fine structural, and molecular genetic data...
  2. ncbi Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn)
    J M Schroder
    Department of Neuropathology, University Hospital, RWTH, Pauwelsstr 30, 52074 Aachen, Germany
    Acta Neuropathol 108:250-6. 2004
    ..The peripheral nervous system, which has not been studied before in patients with ACTA1 mutations, showed no loss of motor or sensory myelinated fibers and no loss of sensory neurons in spinal ganglia...
  3. ncbi Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency
    J M Schroder
    Department of Neuropathology, University Hospital, RWTH Aachen, Pauwelsstr 30, 52074 Aachen, Germany
    Acta Neuropathol 108:154-67. 2004
    ..The inclusions usually showed a bilaminar structure, whereas trilaminar structures, typically seen in adrenoleukodystrophy, and multilaminar structures were less frequently seen...
  4. ncbi Ferritinopathy: diagnosis by muscle or nerve biopsy, with a note on other nuclear inclusion body diseases
    J Michael Schröder
    Department of Neuropathology, University Hospital, Rheinisch Westfälische Technische Hochschule Aachen, Germany
    Acta Neuropathol 109:109-14. 2005
    ....
  5. ncbi Neuropathology of Charcot-Marie-Tooth and related disorders
    J Michael Schröder
    Department of Neuropathology, University Hospital, RWTH Aachen, Germany
    Neuromolecular Med 8:23-42. 2006
    ....
  6. ncbi The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy
    Stephan Zuchner
    Institut für Neuropathologie, Universitätsklinikum der RWTH Aachen, Pauwelsstrasse 32, 52074 Aachen, Germany
    Neuromuscul Disord 14:147-57. 2004
    ..This correlative study further confirms that neurofilament light gene mutations cause a wide clinical spectrum. Thus, analysis of the neurofilament light gene should not be restricted to pure axonal neuropathies...
  7. ncbi Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene
    Kay W Nolte
    Department of Neuropathology, RWTH Aachen University Hospital, Pauwelsstr 30, 52074, Aachen, Germany
    Acta Neuropathol 116:491-506. 2008
    ....
  8. ncbi A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease
    Stephan Zuchner
    Department of Neuropathology, University Hospital, Technical University of Aachen, Aachen, Germany
    Brain 126:920-7. 2003
    ..This case appears to be unique in respect to the underlying novel mutation in the ABC1 gene and its association with complete endoneurial sclerosis of all fascicles in the sural nerve and absence of cardiovascular disease...
  9. ncbi SOX10 mutation with peripheral amyelination and developmental disturbance of axons
    Kathleen Parthey
    Clinic and Policlinic for Child and Adolescent Medicine, Neonatal Intensive Care Unit, University Hospital, Halle, Saale, Germany
    Muscle Nerve 45:284-90. 2012
    ..Hirschsprung disease was confirmed by rectal biopsy. Sural nerve biopsy revealed hypoplasia due to amyelination (with the exception of a single, small myelinated fiber) and severe reduction in the number of axons...
  10. ncbi Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Nat Genet 37:1312-4. 2005
    ..Identification of SIL1 mutations implicates Marinesco-Sjögren syndrome as a disease of endoplasmic reticulum dysfunction and suggests a role for this organelle in multisystem disorders...
  11. ncbi Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
    Stephan Zuchner
    Department of Neuropathology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany
    Nat Genet 36:449-51. 2004
  12. ncbi 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...
  13. ncbi Perineurial cells filled with collagen in 'atypical' Cogan's syndrome
    Kay W Nolte
    Department of Neuropathology, University Hospital, Pauwelsstr 30, 52074 Aachen, Germany
    Acta Neuropathol 115:589-96. 2008
    ..It is concluded that the changes were caused by a special type of autoimmune reaction involving blood vessels and perineurial cells of peripheral nerves...
  14. ncbi Adoptive transfer-experimental allergic neuritis in newborn Lewis rats results in inflammatory infiltrates, mast cell activation, and increased Ia expression with only minor nerve fiber degeneration
    Marcel Pilartz
    Institut für Neuropathologie, Universitätsklinikum der Rheinisch Westfälischen Technischen Hochschule Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany
    Acta Neuropathol 104:513-24. 2002
    ....