Research Topics
Species | Hans H GoebelSummaryAffiliation: University of Mainz Country: Germany Publications
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Publications
Storage diseases: diagnostic positionHans 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...- Practical application of electron microscopy to neuromuscular diseasesHans 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... 
The Eighth Meryon Society Lecture read at Worcester College, Oxford on 2 July, 2004Hans H Goebel
Department of Neuropathology, Johannes Gutenberg University, Medical Center, Langenbeckstrasse 1, 55101 Mainz, Germany
Neuromuscul Disord 14:822-8. 2004- Congenital myopathies in the new millenniumHans 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... - Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathyH 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... - Cap disease uncappedHans H Goebel
Department of Neuropathology, Johannes Gutenberg University Medical Center, Langenbeckstrasse 1, 55131 Mainz, Germany
Neuromuscul Disord 17:429-32. 2007 - 156th ENMC International Workshop: desmin and protein aggregate myopathies, 9-11 November 2007, Naarden, The NetherlandsHans H Goebel
Johannes Gutenberg University, Medical Center, Langenbeckstrasse 1, 55131 Mainz, Germany
Neuromuscul Disord 18:583-92. 2008 - Actinopathies and myosinopathiesHans 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... - [Congenital and other myopathies]H H Goebel
Abteilung für Neuropathologie, Universitätsmedizin Johannes Gutenberg Universität, Mainz, Deutschland
Pathologe 30:365-9. 2009.... - Protein aggregation in congenital myopathiesHans H Goebel
Department of Neuropathology, University Medical Center of Johannes Gutenberg University, Mainz, Germany
Semin Pediatr Neurol 18:272-6. 2011.... - Actin-related myopathy without any missense mutation in the ACTA1 geneHans H Goebel
Department of Neuropathology, Johannes Gutenberg University Medical Center, Mainz, Germany
J Child Neurol 19:149-53. 2004.... - Congenital myopathies at their molecular dawningHans H Goebel
Department of Neuropathology, Johannes Gutenberg University, Medical Center, Langenbeckstrasse 1, 55131 Mainz, Germany
Muscle Nerve 27:527-48. 2003.... - Current state of clinical and morphological features in human NCLHans H Goebel
Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany
Brain Pathol 14:61-9. 2004..Pheno/genotypic correlation studies are discussed... - Immune-mediated necrotizing myopathy is characterized by a specific Th1-M1 polarized immune profileCorinna 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... 
M2 polarized macrophages and giant cells contribute to myofibrosis in neuromuscular sarcoidosisStefan 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...- Protein aggregate myopathiesHans 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... - Desmin - Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14-16 September 2001, Naarden, The NetherlandsHans H Goebel
Department of Neuropathology, Mainz University Medical Center, Langenbeckstrasse 1, 55131, Mainz, Germany
Neuromuscul Disord 12:687-92. 2002 - The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutationAlexandra Vrabie
Department of Neuropathology, Johannes Gutenberg University Medical Center, Langenbeckstrasse 1, 55101 Mainz, Germany
Acta Neuropathol 109:411-7. 2005.... - Delayed or late-onset type II glycogenosis with globular inclusionsMehar C Sharma
Department of Neuropathology, Johannes Gutenberg University, Langenbeckstrasse 1, 55131, Mainz, Germany
Acta Neuropathol (Berl) 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... - Protein surplus myopathies and other rare congenital myopathiesHans 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... - A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desminAyush 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... - Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actinCarina 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... - Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N geneAna 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... - Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathyKati 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... - Primary desminopathiesRolf 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... - Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutationsRobert 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... - McLeod myopathy revisited: more neurogenic and less benignEkkehard 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... - Global democratic consensus on neuropathological disease criteriaCristian Achim
Lancet Neurol 1:340. 2002 - 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 actinopathyHans H Goebel
J Child Neurol 21:545. 2006 - Frontotemporal dementia: the post-tau eraBernardino Ghetti
Neurology 67:560-1. 2006 - Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindredDanielle 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... - Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathyStefan Hager
Department of Cardiology, Robert-Bosch-Medical Center, Stuttgart, Germany
Circulation 113:e53-5. 2006 - Camptocormia associated with focal myositis in multiple-system atrophyNico 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... - Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutationOlga 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..Pyruvate dehydrogenase complex activity in fibroblasts was normal, however, indicating that the biochemical examination of defects in energy metabolism should be performed in a more energy demanding tissue... - Prophylactic implantable cardioverter defibrillator placement in a sporadic desmin related myopathy and cardiomyopathyLars 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... - July 2003: 62-year-old female with progressive muscular weaknessAntje Bornemann
Institute of Brain Research, Eberhard-Karls University, , 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...