Hans H Goebel

Hans H Goebel

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Hans H Goebel

Publications by authors named "Hans H Goebel"

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Introduction.

Authors:
Hans H Goebel

Semin Pediatr Neurol 2019 Apr 8;29:1-2. Epub 2019 Feb 8.

Department of Neuropathology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2019.01.003DOI Listing
April 2019

Recently Identified Congenital Myopathies.

Semin Pediatr Neurol 2019 Apr 10;29:83-90. Epub 2019 Feb 10.

Department of Neuropathology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1016/j.spen.2019.01.008DOI Listing
April 2019

Cytoplasmic body myopathy revisited.

Neuromuscul Disord 2018 11 30;28(11):969-971. Epub 2018 Aug 30.

Department of Neuropathology, Campus Charité Mitte, Berlin, Germany; Department of Neuropathology, Johannes Gutenberg-University, Mainz, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.08.006DOI Listing
November 2018

Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Ann Clin Transl Neurol 2018 Nov 14;5(11):1385-1393. Epub 2018 Oct 14.

Department of Neuropathology Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health Berlin Germany.

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http://doi.wiley.com/10.1002/acn3.662
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http://dx.doi.org/10.1002/acn3.662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243389PMC
November 2018

The Curse of Apneic Spells.

Semin Pediatr Neurol 2018 07 13;26:56-58. Epub 2017 Apr 13.

(⁎)Department of Neuropathology, Charité Universitätsmedizin Berlin, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.03.006DOI Listing
July 2018

Myositis non-inflammatory mechanisms: An up-dated review.

J Immunoassay Immunochem 2017 ;38(2):115-126

f Department of Neuropathology , Charité - Universitätsmedizin Berlin , Berlin , Germany.

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http://dx.doi.org/10.1080/15321819.2017.1298525DOI Listing
August 2017

20th Anniversary Meeting of the Meryon Society Worcester College, Oxford.

Neuromuscul Disord 2017 03 25;27(3):298-303. Epub 2016 Nov 25.

Institute of Neuropathology, Charité, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.11.016DOI Listing
March 2017

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.

Neuromuscul Disord 2016 Mar 3;26(3):236-9. Epub 2015 Dec 3.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.nmd.2015.11.011DOI Listing
March 2016

Th2-M2 immunity in lesions of muscular sarcoidosis and macrophagic myofasciitis.

Neuropathol Appl Neurobiol 2015 Dec 19;41(7):952-63. Epub 2015 May 19.

Department of Neuropathology, Charité-Universitätsmedizin Berlin, Germany.

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http://dx.doi.org/10.1111/nan.12231DOI Listing
December 2015

Human NCL Neuropathology.

Biochim Biophys Acta 2015 Oct 16;1852(10 Pt B):2262-6. Epub 2015 May 16.

Department of Neuropathology, Charité - Universitätsmedizin Berlin, Charitéplatz 1 | Virchowweg 15, D-10117 Berlin, Germany; Department of Neuropathology, University Medicine of the Johannes Gutenberg University, Mainz, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2015.05.007DOI Listing
October 2015

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.

Neuromuscul Disord 2015 Sep 13;25(9):713-8. Epub 2015 Jul 13.

Department of Neurology, University Hospital Alexandrovska, Sofia Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.nmd.2015.07.004DOI Listing
September 2015

Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy.

Neurology 2015 Mar 6;84(13):1346-54. Epub 2015 Mar 6.

From the Departments of Neuropathology (W.S., C.P., D.P., F.L.H., H.H.G.) and Rheumatology (U.S.), Charité-Universitätsmedizin Berlin, Germany; the Département de Médecine Interne et Immunologie Clinique (Y.A., O.B.), Centre de Référence Maladies Neuro-Musculaires Paris Est, Assistance Public-Hôpitaux de Paris Université Pierre et Marie Curie, Hôpital Pitié-Salpêtrière, Paris, France; the Section of Neuropathology, Department of Anatomical Pathology (R.J.), Path West Laboratory Medicine, Royal Perth Hospital, Perth; School of Pathology and Laboratory Medicine (R.J.), University of Western Australia, Nedlands, Australia; the Institute of Neuropathology (K.N., K.G.C., J.W.) and the Department of Neurology (K.G.C.), RWTH Aachen, Germany; the Department of Pathology and Neuropathology (E.A.), AMC University, Amsterdam, the Netherlands; the Department of Neuropathology (V.K., E.R.), University of Zürich, Switzerland; and the Department of Neuropathology (H.H.G.), University Medicine, Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000001422DOI Listing
March 2015

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.

Neuromuscul Disord 2014 Dec 7;24(12):1122. Epub 2014 Aug 7.

Charité - Universitätsmedizin Berlin, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966140061
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http://dx.doi.org/10.1016/j.nmd.2014.07.007DOI Listing
December 2014

The lymphoid follicle variant of dermatomyositis.

Neurol Neuroimmunol Neuroinflamm 2014 Aug 28;1(2):e19. Epub 2014 Jul 28.

Departments of Neuropathology (J.R., D.P., F.L.H., H.H.G., W.S.) and Rheumatology and Clinical Immunology (U.S.), Charité Universitätsmedizin Berlin, Germany; and Departments of (Neuro) Pathology (E.A.), Pediatric Hematology, Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital (D.S.-M.), and Neurology and Neurophysiology (M.d.V.), Academic Medical Centre, University of Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/NXI.0000000000000019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202675PMC
August 2014

Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.

Neurology 2014 Mar 5;82(10):873-8. Epub 2014 Feb 5.

From the Peripheral Nerve Laboratory (C.J.K., X.D., P.J.D.), Laboratory Medicine and Pathology (Y.W.), Department of Biochemistry and Molecular Biology (M.-V.B., G.M.), and Biomedical Statistics and Informatics (S.M., E.J.A.), Mayo Clinic, Rochester, MN; Department of Neurology (P.V.), St. Georg Hospital, Hamburg, Germany; Department of Neuropathology (H.H.G.), Charité-Universitätsmedizin, Berlin, Germany; and Neurogenetics Branch (C.B., K.Z.), National Institute of Neurological Disorders and Stroke, Bethesda, MD.

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http://www.neurology.org/content/82/10/873.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000020
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http://dx.doi.org/10.1212/WNL.0000000000000206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959756PMC
March 2014

De novo prion aggregates trigger autophagy in skeletal muscle.

J Virol 2014 Feb 4;88(4):2071-82. Epub 2013 Dec 4.

Department of Pathology, School of Medicine, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1128/JVI.02279-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3911572PMC
February 2014

Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.

Muscle Nerve 2014 Jan 3;49(1):144-5. Epub 2013 Dec 3.

Department of Pathology, Medical Faculty, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1002/mus.23981DOI Listing
January 2014

The neuronal ceroid-lipofuscinoses: a historical introduction.

Biochim Biophys Acta 2013 Nov 29;1832(11):1795-800. Epub 2012 Aug 29.

Department of Pathology, University of Helsinki, 00014 Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2012.08.012DOI Listing
November 2013

Human pathology in NCL.

Biochim Biophys Acta 2013 Nov 29;1832(11):1807-26. Epub 2012 Nov 29.

Department of Histopathology, Great Ormond Street Hospital, London, WC1N 3JH, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09254439120027
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http://dx.doi.org/10.1016/j.bbadis.2012.11.014DOI Listing
November 2013

Ultrastructural myopathology in the molecular era.

Ultrastruct Pathol 2013 Oct;37(5):328-31

Department of Neuropathology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany and.

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http://dx.doi.org/10.3109/01913123.2013.810690DOI Listing
October 2013

Practical application of electron microscopy to neuromuscular diseases.

Ultrastruct Pathol 2013 Feb;37(1):15-8

Department of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://dx.doi.org/10.3109/01913123.2012.670045DOI Listing
February 2013

Storage diseases: diagnostic position.

Ultrastruct Pathol 2013 Feb;37(1):19-22

Department of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://www.tandfonline.com/doi/full/10.3109/01913123.2012.67
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http://dx.doi.org/10.3109/01913123.2012.670060DOI Listing
February 2013

Immune-mediated necrotizing myopathy is characterized by a specific Th1-M1 polarized immune profile.

Am J Pathol 2012 Dec 8;181(6):2161-71. Epub 2012 Oct 8.

Department of Neuropathology, Charité-Universitätsmedizin, Charité Campus Mitte, Charitéplatz 1, Berlin, Germany.

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http://dx.doi.org/10.1016/j.ajpath.2012.08.033DOI Listing
December 2012

Myofibrillar disorganization characterizes myopathy of camptocormia in Parkinson's disease.

Acta Neuropathol 2012 Mar 11;123(3):419-32. Epub 2011 Dec 11.

Prion and Dementia Research Unit, Institute of Neuropathology, Medical University Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1007/s00401-011-0927-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3282910PMC
March 2012

When tubules aggregate.

Authors:
Hans H Goebel

Neuromuscul Disord 2012 Mar 28;22(3):208-10. Epub 2012 Jan 28.

Department of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://dx.doi.org/10.1016/j.nmd.2011.12.006DOI Listing
March 2012

Congenital myopathies. Introduction.

Authors:
Hans H Goebel

Semin Pediatr Neurol 2011 Dec;18(4):213-5

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http://dx.doi.org/10.1016/j.spen.2011.10.001DOI Listing
December 2011

Protein aggregation in congenital myopathies.

Semin Pediatr Neurol 2011 Dec;18(4):272-6

Department of Neuropathology, University Medical Center of Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1016/j.spen.2011.10.009DOI Listing
December 2011

Neuropathology of neurometabolic diseases in children with epilepsy.

Authors:
Hans H Goebel

Brain Dev 2011 Oct 22;33(9):726-33. Epub 2011 Feb 22.

Department of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Germany.

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http://dx.doi.org/10.1016/j.braindev.2011.01.012DOI Listing
October 2011

169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands.

Neuromuscul Disord 2011 May 29;21(5):363-74. Epub 2011 Mar 29.

University Medical Center of the Johannes Gutenberg University Mainz, Langenbeckstrasse 1, 55131 Mainz, Germany.

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http://dx.doi.org/10.1016/j.nmd.2011.02.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210189PMC
May 2011

M2 polarized macrophages and giant cells contribute to myofibrosis in neuromuscular sarcoidosis.

Am J Pathol 2011 Mar;178(3):1279-86

Department of Neuropathology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1016/j.ajpath.2010.11.065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3069905PMC
March 2011

Protein aggregate myopathies. Introduction.

Authors:
Hans H Goebel

Brain Pathol 2009 Jul;19(3):480-2

Department of Neuropathology, University Medicine of the Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1111/j.1750-3639.2009.00291.xDOI Listing
July 2009

Actinopathies and myosinopathies.

Brain Pathol 2009 Jul;19(3):516-22

Department of Neuropathology, University Medicine, Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1111/j.1750-3639.2009.00287.xDOI Listing
July 2009

Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.

Neuromuscul Disord 2009 Mar 8;19(3):223-8. Epub 2009 Feb 8.

Department of Neurology, Friedrich Baur Institute, University of Munich, Ziemssenstr. 1a, D-80336 Munich, Germany.

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http://dx.doi.org/10.1016/j.nmd.2009.01.002DOI Listing
March 2009

Intermediate filament diseases: desminopathy.

Adv Exp Med Biol 2008 ;642:131-64

National Institutes of Health, Bethesda, MD 20892-9404, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776705PMC
http://dx.doi.org/10.1007/978-0-387-84847-1_11DOI Listing
February 2009

TPM2 mutation.

Neuromuscul Disord 2008 Dec 11;18(12):1005. Epub 2008 Sep 11.

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http://dx.doi.org/10.1016/j.nmd.2008.07.007DOI Listing
December 2008

Myopathology of non-infectious inflammatory myopathies - the current status.

Pathol Res Pract 2008 2;204(9):609-23. Epub 2008 Jun 2.

Institute of Neuropathology, University Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1016/j.prp.2008.03.006DOI Listing
October 2008

156th ENMC International Workshop: desmin and protein aggregate myopathies, 9-11 November 2007, Naarden, The Netherlands.

Neuromuscul Disord 2008 Jul 1;18(7):583-92. Epub 2008 Jul 1.

Johannes Gutenberg University, Medical Center, Langenbeckstrasse 1, 55131 Mainz, Germany.

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http://dx.doi.org/10.1016/j.nmd.2008.04.008DOI Listing
July 2008

Primary desminopathies.

J Cell Mol Med 2007 May-Jun;11(3):416-26

Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.

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http://doi.wiley.com/10.1111/j.1582-4934.2007.00057.x
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http://dx.doi.org/10.1111/j.1582-4934.2007.00057.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922350PMC
November 2007

Cap disease uncapped.

Authors:
Hans H Goebel

Neuromuscul Disord 2007 Jun 16;17(6):429-32. Epub 2007 Apr 16.

Department of Neuropathology, Johannes Gutenberg University Medical Center, Langenbeckstrasse 1, 55131 Mainz, Germany.

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http://dx.doi.org/10.1016/j.nmd.2007.03.011DOI Listing
June 2007

Diagnosis of the neuronal ceroid lipofuscinoses: an update.

Biochim Biophys Acta 2006 Oct 12;1762(10):865-72. Epub 2006 Jul 12.

Department of Paediatric Neurology, SKY, Level 6, Evelina Children's Hospital, Lambeth Palace Road, London, UK.

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http://dx.doi.org/10.1016/j.bbadis.2006.07.001DOI Listing
October 2006

Frontotemporal dementia: the post-tau era.

Neurology 2006 Aug;67(4):560-1

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http://dx.doi.org/10.1212/01.wnl.0000237005.54105.d7DOI Listing
August 2006

Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.

Neuromuscul Disord 2006 Jun 8;16(6):357-60. Epub 2006 May 8.

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.

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http://dx.doi.org/10.1016/j.nmd.2006.03.011DOI Listing
June 2006

Protein aggregate myopathies.

Semin Pediatr Neurol 2006 Jun;13(2):96-103

Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany. neuropatho.klinik.uni-mainz.de

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http://dx.doi.org/10.1016/j.spen.2006.06.005DOI Listing
June 2006

Camptocormia associated with focal myositis in multiple-system atrophy.

Mov Disord 2006 Mar;21(3):390-4

Department of Neuroscience, Centre Hospitalier de Luxembourg, Luxembourg, Luxembourg.

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http://doi.wiley.com/10.1002/mds.20686
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http://dx.doi.org/10.1002/mds.20686DOI Listing
March 2006

Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathy.

Circulation 2006 Jan;113(4):e53-5

Department of Cardiology, Robert-Bosch-Medical Center, Stuttgart, Germany.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.105.502575DOI Listing
January 2006

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Neurogenetics 2005 Sep 28;6(3):107-26. Epub 2005 Sep 28.

MRC Laboratory for Molecular Cell Biology and Department of Paediatrics and Child Health, University College London, Gower Street, London, WC1E 6BT, UK.

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http://dx.doi.org/10.1007/s10048-005-0218-3DOI Listing
September 2005

Delayed or late-onset type II glycogenosis with globular inclusions.

Acta Neuropathol 2005 Aug 29;110(2):151-7. Epub 2005 Jun 29.

Department of Neuropathology, Johannes Gutenberg University, Langenbeckstrasse 1, 55131, Mainz, Germany.

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http://link.springer.com/content/pdf/10.1007/s00401-005-1026
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http://link.springer.com/10.1007/s00401-005-1026-4
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http://dx.doi.org/10.1007/s00401-005-1026-4DOI Listing
August 2005

The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.

Acta Neuropathol 2005 Apr 10;109(4):411-7. Epub 2005 Mar 10.

Department of Neuropathology, Johannes Gutenberg University Medical Center, Langenbeckstrasse 1, 55101 Mainz, Germany.

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http://dx.doi.org/10.1007/s00401-005-0980-1DOI Listing
April 2005

Congenital myopathies in the new millennium.

Authors:
Hans H Goebel

J Child Neurol 2005 Feb;20(2):94-101

Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1177/08830738050200020201DOI Listing
February 2005

The Eighth Meryon Society Lecture read at Worcester College, Oxford on 2 July, 2004.

Authors:
Hans H Goebel

Neuromuscul Disord 2004 Dec;14(12):822-8

Department of Neuropathology, Johannes Gutenberg University, Medical Center, Langenbeckstrasse 1, 55101 Mainz, Germany.

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http://dx.doi.org/10.1016/j.nmd.2004.08.007DOI Listing
December 2004

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

Ann Neurol 2004 May;55(5):676-86

Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://doi.wiley.com/10.1002/ana.20077
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http://dx.doi.org/10.1002/ana.20077DOI Listing
May 2004

Prophylactic implantable cardioverter defibrillator placement in a sporadic desmin related myopathy and cardiomyopathy.

Pacing Clin Electrophysiol 2004 Apr;27(4):559-60

Department of Cardiology and Pneumology, Georg-August-University, Goettingen, Germany.

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http://doi.wiley.com/10.1111/j.1540-8159.2004.00484.x
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http://dx.doi.org/10.1111/j.1540-8159.2004.00484.xDOI Listing
April 2004

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.

J Neurol 2004 Feb;251(2):143-9

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.

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http://link.springer.com/10.1007/s00415-004-0289-3
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http://dx.doi.org/10.1007/s00415-004-0289-3DOI Listing
February 2004

Actin-related myopathy without any missense mutation in the ACTA1 gene.

J Child Neurol 2004 Feb;19(2):149-53

Department of Neuropathology, Johannes Gutenberg University Medical Center, Mainz, Germany.

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http://dx.doi.org/10.1177/08830738040190021201DOI Listing
February 2004

Current state of clinical and morphological features in human NCL.

Brain Pathol 2004 Jan;14(1):61-9

Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany.

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January 2004

July 2003: 62-year-old female with progressive muscular weakness.

Brain Pathol 2004 Jan;14(1):109-10, 115

Institute of Brain Research, Eberhard-Karls University, Tübingen, Germany.

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January 2004

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

Eur J Pediatr 2003 Oct 19;162(10):714-8. Epub 2003 Aug 19.

Nijmegen Centrer for Mitochondrial Disorders, University Medical Centre Nijmegen, Department of Paediatrics, Geert Grooteplein 10, 9101, 6500HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00431-003-1282-zDOI Listing
October 2003

Congenital myopathies at their molecular dawning.

Authors:
Hans H Goebel

Muscle Nerve 2003 May;27(5):527-48

Department of Neuropathology, Johannes Gutenberg University, Medical Center, Langenbeckstrasse 1, 55131 Mainz, Germany.

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http://dx.doi.org/10.1002/mus.10322DOI Listing
May 2003

Desmin - Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14-16 September 2001, Naarden, The Netherlands.

Neuromuscul Disord 2002 Oct;12(7-8):687-92

Department of Neuropathology, Mainz University Medical Center, Langenbeckstrasse 1, 55131, Mainz, Germany.

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October 2002

Neuronal loss and brain atrophy in mice lacking cathepsins B and L.

Proc Natl Acad Sci U S A 2002 Jun 4;99(12):7883-8. Epub 2002 Jun 4.

Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1073/pnas.112632299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC122989PMC
June 2002

Protein surplus myopathies and other rare congenital myopathies.

Semin Pediatr Neurol 2002 Jun;9(2):160-70

Department of Neuropathology, Johannes Gutenberg University Medical Center, Mainz, Germany.

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June 2002

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

Neuromuscul Disord 2002 Feb;12(2):151-8

Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

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February 2002