Hans H Goebel

Summary

Affiliation: University of Mainz
Country: Germany

Publications

  1. doi request reprint Storage diseases: diagnostic position
    Hans H Goebel
    Department of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
    Ultrastruct Pathol 37:19-22. 2013
  2. doi request reprint Practical application of electron microscopy to neuromuscular diseases
    Hans H Goebel
    Department of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
    Ultrastruct Pathol 37:15-8. 2013
  3. ncbi request reprint The Eighth Meryon Society Lecture read at Worcester College, Oxford on 2 July, 2004
    Hans H Goebel
    Department of Neuropathology, Johannes Gutenberg University, Medical Center, Langenbeckstrasse 1, 55101 Mainz, Germany
    Neuromuscul Disord 14:822-8. 2004
  4. ncbi request reprint Congenital myopathies in the new millennium
    Hans H Goebel
    Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany
    J Child Neurol 20:94-101. 2005
  5. ncbi request reprint Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy
    H H Goebel
    Department of Neuropathology, Medical Center, Johannes Gutenberg University, Mainz, Germany
    Neuropediatrics 32:196-205. 2001
  6. ncbi request reprint Cap disease uncapped
    Hans H Goebel
    Department of Neuropathology, Johannes Gutenberg University Medical Center, Langenbeckstrasse 1, 55131 Mainz, Germany
    Neuromuscul Disord 17:429-32. 2007
  7. doi request reprint 156th ENMC International Workshop: desmin and protein aggregate myopathies, 9-11 November 2007, Naarden, The Netherlands
    Hans H Goebel
    Johannes Gutenberg University, Medical Center, Langenbeckstrasse 1, 55131 Mainz, Germany
    Neuromuscul Disord 18:583-92. 2008
  8. doi request reprint Actinopathies and myosinopathies
    Hans H Goebel
    Department of Neuropathology, University Medicine, Johannes Gutenberg University, Mainz, Germany
    Brain Pathol 19:516-22. 2009
  9. doi request reprint [Congenital and other myopathies]
    H H Goebel
    Abteilung für Neuropathologie, Universitätsmedizin Johannes Gutenberg Universität, Mainz, Deutschland
    Pathologe 30:365-9. 2009
  10. doi request reprint Protein aggregation in congenital myopathies
    Hans H Goebel
    Department of Neuropathology, University Medical Center of Johannes Gutenberg University, Mainz, Germany
    Semin Pediatr Neurol 18:272-6. 2011

Collaborators

Detail Information

Publications36

  1. doi request reprint Storage diseases: diagnostic position
    Hans H Goebel
    Department of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
    Ultrastruct Pathol 37:19-22. 2013
    ..Lysosomal diseases are divided into vacuolar and nonvacuolar ones. NCL display variegated ultrastructural patterns. Drugs may induce lysosomal storage. Finally, polyglucosan body diseases require attention...
  2. doi request reprint Practical application of electron microscopy to neuromuscular diseases
    Hans H Goebel
    Department of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
    Ultrastruct Pathol 37:15-8. 2013
    ..Diagnostically "wasteful" electron microscopy may pertain to muscular dystrophies, neurogenic atrophy, and myotonic diseases...
  3. ncbi request reprint The Eighth Meryon Society Lecture read at Worcester College, Oxford on 2 July, 2004
    Hans H Goebel
    Department of Neuropathology, Johannes Gutenberg University, Medical Center, Langenbeckstrasse 1, 55101 Mainz, Germany
    Neuromuscul Disord 14:822-8. 2004
  4. ncbi request reprint Congenital myopathies in the new millennium
    Hans H Goebel
    Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany
    J Child Neurol 20:94-101. 2005
    ..This heuristic principle needs to be further applied to other genetically still obscure congenital myopathies...
  5. ncbi request reprint Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy
    H H Goebel
    Department of Neuropathology, Medical Center, Johannes Gutenberg University, Mainz, Germany
    Neuropediatrics 32:196-205. 2001
    ..In the latter case, the transmission pattern suggested X-linked recessive inheritance, but an autosomal-dominant transmission with variable penetrance could not be ruled out...
  6. ncbi request reprint Cap disease uncapped
    Hans H Goebel
    Department of Neuropathology, Johannes Gutenberg University Medical Center, Langenbeckstrasse 1, 55131 Mainz, Germany
    Neuromuscul Disord 17:429-32. 2007
  7. doi request reprint 156th ENMC International Workshop: desmin and protein aggregate myopathies, 9-11 November 2007, Naarden, The Netherlands
    Hans H Goebel
    Johannes Gutenberg University, Medical Center, Langenbeckstrasse 1, 55131 Mainz, Germany
    Neuromuscul Disord 18:583-92. 2008
  8. doi request reprint Actinopathies and myosinopathies
    Hans H Goebel
    Department of Neuropathology, University Medicine, Johannes Gutenberg University, Mainz, Germany
    Brain Pathol 19:516-22. 2009
    ..Protein aggregation consists of granular material in muscle fibers and few, if any, filaments...
  9. doi request reprint [Congenital and other myopathies]
    H H Goebel
    Abteilung für Neuropathologie, Universitätsmedizin Johannes Gutenberg Universität, Mainz, Deutschland
    Pathologe 30:365-9. 2009
    ....
  10. doi request reprint Protein aggregation in congenital myopathies
    Hans H Goebel
    Department of Neuropathology, University Medical Center of Johannes Gutenberg University, Mainz, Germany
    Semin Pediatr Neurol 18:272-6. 2011
    ....
  11. ncbi request reprint Actin-related myopathy without any missense mutation in the ACTA1 gene
    Hans H Goebel
    Department of Neuropathology, Johannes Gutenberg University Medical Center, Mainz, Germany
    J Child Neurol 19:149-53. 2004
    ....
  12. ncbi request reprint Congenital myopathies at their molecular dawning
    Hans H Goebel
    Department of Neuropathology, Johannes Gutenberg University, Medical Center, Langenbeckstrasse 1, 55131 Mainz, Germany
    Muscle Nerve 27:527-48. 2003
    ....
  13. ncbi request reprint Current state of clinical and morphological features in human NCL
    Hans H Goebel
    Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany
    Brain Pathol 14:61-9. 2004
    ..Pheno/genotypic correlation studies are discussed...
  14. ncbi request reprint Protein aggregate myopathies
    Hans H Goebel
    Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany neuropatho klinik uni mainz de
    Semin Pediatr Neurol 13:96-103. 2006
    ..Because pathogenetic principles in PAMs are still incompletely known, causative therapy, at this time, is not available...
  15. pmc M2 polarized macrophages and giant cells contribute to myofibrosis in neuromuscular sarcoidosis
    Stefan Prokop
    Department of Neuropathology, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Pathol 178:1279-86. 2011
    ..This is the first characterization of Th2-mediated immune mechanisms in neuromuscular sarcoidosis suggesting that a specific macrophage activation status leading to myofibrosis may be a key event in the pathogenesis of this disease...
  16. doi request reprint Immune-mediated necrotizing myopathy is characterized by a specific Th1-M1 polarized immune profile
    Corinna Preuße
    Department of Neuropathology, Charite Universitatsmedizin, Charite Campus Mitte, Chariteplatz 1, Berlin, Germany
    Am J Pathol 181:2161-71. 2012
    ..In addition, we have characterized a Th1-driven, M1-mediated immune response in most of the autoimmune necrotizing myopathies, which may guide therapeutic options in the future...
  17. ncbi request reprint Desmin - Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14-16 September 2001, Naarden, The Netherlands
    Hans H Goebel
    Department of Neuropathology, Mainz University Medical Center, Langenbeckstrasse 1, 55131, Mainz, Germany
    Neuromuscul Disord 12:687-92. 2002
  18. ncbi request reprint The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation
    Alexandra Vrabie
    Department of Neuropathology, Johannes Gutenberg University Medical Center, Langenbeckstrasse 1, 55101 Mainz, Germany
    Acta Neuropathol 109:411-7. 2005
    ....
  19. ncbi request reprint Delayed or late-onset type II glycogenosis with globular inclusions
    Mehar C Sharma
    Department of Neuropathology, Johannes Gutenberg University, Langenbeckstrasse 1, 55131, Mainz, Germany
    Acta Neuropathol 110:151-7. 2005
    ..Although only one patient with such globular inclusions has been reported up to now, the three patients described here indicate that in the late-onset type of GSD II such inclusions may not be rare...
  20. ncbi request reprint Protein surplus myopathies and other rare congenital myopathies
    Hans H Goebel
    Department of Neuropathology, Johannes Gutenberg University Medical Center, Mainz, Germany
    Semin Pediatr Neurol 9:160-70. 2002
    ..It is to be expected that a recently updated ENMC Consortium on "Protein surplus and other congenital myopathies" may procure important new information...
  21. ncbi request reprint A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin
    Ayush Dagvadorj
    National Institute of Neurological Disorders and Stroke, National Institutes of Health Bldg 10, Room 4B37, 10 Center Dr, MSC 1361, Bethesda, Maryland 20892 1361, USA
    J Neurol 251:143-9. 2004
    ..The high pathogenic potential of this mutation can be explained by its location in the highly conserved YRKLLEGEE motif at the C-terminal end of the 2B helix that has a critical role in the process of desmin filament assembly...
  22. ncbi request reprint Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Neuromuscul Disord 14:461-70. 2004
    ..Finding the causative mutation(s) determines the mode of inheritance and permits prenatal diagnosis if requested, but will not as such permit prognostication...
  23. ncbi request reprint Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene
    Ana Ferreiro
    Institut National de la Sante et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Ann Neurol 55:676-86. 2004
    ..These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies...
  24. ncbi request reprint Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy
    Kati Donner
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Neuromuscul Disord 12:151-8. 2002
    ..Both mutations affect conserved amino acids, and in both cases, the mutant allele is expressed. We speculate that the observed mutations affect the formation of the tropomyosin dimer and its actin-binding properties...
  25. ncbi request reprint Primary desminopathies
    Rolf Schroder
    Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany
    J Cell Mol Med 11:416-26. 2007
    ..Furthermore, we will discuss recent genetic and biochemical advances in distinguishing primary from secondary desminopathies...
  26. ncbi request reprint Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations
    Robert Steinfeld
    Department of Pediatrics, University of Hamburg, Hamburg, Germany
    Am J Med Genet 112:347-54. 2002
    ..In addition, the described performance score system can be applied to other types of neuronal ceroid lipofuscinoses and could be adapted to various other neurodegenerative diseases of childhood...
  27. ncbi request reprint McLeod myopathy revisited: more neurogenic and less benign
    Ekkehard Hewer
    Institute of Neuropathology, University Hospital Zurich, Switzerland
    Brain 130:3285-96. 2007
    ..In conclusion, our findings confirm that MLS is not a benign condition but rather a progressive multisystem disorder sharing many features with Huntington's disease...
  28. ncbi request reprint Global democratic consensus on neuropathological disease criteria
    Cristian Achim
    Lancet Neurol 1:340. 2002
  29. ncbi request reprint Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathy
    Hans H Goebel
    J Child Neurol 21:545. 2006
  30. ncbi request reprint Frontotemporal dementia: the post-tau era
    Bernardino Ghetti
    Neurology 67:560-1. 2006
  31. ncbi request reprint Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred
    Danielle E Dye
    Molecular Neurogenetics Laboratory, Centre for Medical Research, West Australian Institute for Medical Research, University of Western Australia M519, B Block, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia
    Neuromuscul Disord 16:357-60. 2006
    ..We have identified a novel heterozygous Leu1793Pro mutation in MYH7 in DNA from paraffin sections of one of the original siblings. This historical molecular analysis confirms the original cases had myosin storage myopathy...
  32. ncbi request reprint Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathy
    Stefan Hager
    Department of Cardiology, Robert Bosch Medical Center, Stuttgart, Germany
    Circulation 113:e53-5. 2006
  33. ncbi request reprint Camptocormia associated with focal myositis in multiple-system atrophy
    Nico J Diederich
    Department of Neuroscience, Centre Hospitalier de Luxembourg, Luxembourg, Luxembourg
    Mov Disord 21:390-4. 2006
    ..The therapeutic response was poor. Similarities with the dropped-head syndrome suggest that the muscle pathology may be either the primary cause of CC, a focal reaction to the CC posture, or a coincident syndrome of old age...
  34. ncbi request reprint Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation
    Olga Grafakou
    Nijmegen Centrer for Mitochondrial Disorders, University Medical Centre Nijmegen, Department of Paediatrics, Geert Grooteplein 10, 9101, 6500HB Nijmegen, The Netherlands
    Eur J Pediatr 162:714-8. 2003
    ..A heterozygous polymorphism was also detected. In the patient's cDNA the I393T mutation and the polymorphism appeared to be homozygous, indicating that the mRNA coming from the IVS9+1G>A mutant allele is not stable...
  35. ncbi request reprint Prophylactic implantable cardioverter defibrillator placement in a sporadic desmin related myopathy and cardiomyopathy
    Lars G C Luethje
    Department of Cardiology and Pneumology, Georg August University, Goettingen, Germany
    Pacing Clin Electrophysiol 27:559-60. 2004
    ..While nonsustained VTs (NSVT) have previously been reported, this is the first time that a SVT could be seen in a patient with this disease...
  36. ncbi request reprint July 2003: 62-year-old female with progressive muscular weakness
    Antje Bornemann
    Institute of Brain Research, Eberhard Karls University, Tubingen, Germany
    Brain Pathol 14:109-10, 115. 2004
    ..Macrophagic myofasciitis has been suggested to occasionally cause myopathy but is supposed to be unrelated to the underlying myopathy in our patient...