Works matching AU Goebel, Hans H.

Results: 67

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

Published in:

Neurogenetics, 2005, v. 6, n. 3, p. 107, doi. 10.1007/s10048-005-0218-3

By:

Mole, Sara E.;
Williams, Ruth E.;
Goebel, Hans H.

Publication type:

Article

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.

Published in:

Human Mutation, 2009, v. 30, n. 3, p. E490, doi. 10.1002/humu.20941

By:

Clemen, Christoph S.;
Fischer, Dirk;
Reimann, Jens;
Eichinger, Ludwig;
Müller, Clemens R.;
Müller, Harald D.;
Goebel, Hans H.;
Schröder, Rolf

Publication type:

Article

Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 11, p. 1385, doi. 10.1002/acn3.662

By:

Radke, Josefine;
Koll, Randi;
Gill, Esther;
Wiese, Lars;
Schulz, Angela;
Kohlschütter, Alfried;
Schuelke, Markus;
Hagel, Christian;
Stenzel, Werner;
Goebel, Hans H.

Publication type:

Article

Baltic Association of Neuropathologists (BAN) - the first decade.

Published in:

Clinical Neuropathology, 2014, v. 33, n. 2, p. 166

By:

Jaunmuktane, Zane;
Gudinaviciene, Inga;
Kulla, Andres;
Goebel, Hans H.

Publication type:

Article

Report Neuro -- Course in Neuropathology, July 2011, Kaunas, Lithuania.

Published in:

Clinical Neuropathology, 2011, v. 30, n. 6, p. 337

By:

Gudinaviciene, Inga;
Goebel, Hans H.

Publication type:

Article

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

Published in:

Neuropathology & Applied Neurobiology, 2015, v. 41, n. 7, p. 952, doi. 10.1111/nan.12231

By:

Preusse, Corinna;
Goebel, Hans‐H.;
Pehl, Debora;
Rinnenthal, Jan L.;
Kley, Rudolf A.;
Allenbach, Yves;
Heppner, Frank L.;
Vorgerd, Matthias;
Authier, François Jerôme;
Gherardi, Romain;
Stenzel, Werner

Publication type:

Article

Workshop Report.

Published in:

Neuropathology & Applied Neurobiology, 1997, v. 23, n. 3, p. 262, doi. 10.1111/j.1365-2990.1997.tb01210.x

By:

Ruchoux, Marie-Magdeleine;
Goebel, Hans H.

Publication type:

Article

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

Published in:

2003

By:

Grafakou, Olga;
Oexle, Konrad;
van den Heuvel, Lambert;
Smeets, Roel;
Trijbels, Frans;
Goebel, Hans H.;
Bosshard, Nils;
Superti-Furga, Andrea;
Steinmann, Beat;
Smeitink, Jan

Publication type:

journal article

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 5, p. 656, doi. 10.1038/ejhg.2008.226

By:

Shatunov, Alexey;
Olivé, Montse;
Odgerel, Zagaa;
Stadelmann-Nessler, Christine;
Irlbacher, Kerstin;
van Landeghem, Frank;
Bayarsaikhan, Munkhuu;
Hee-Suk Lee;
Goudeau, Bertrand;
Chinnery, Patrick F.;
Straub, Volker;
Hilton-Jones, David;
Damian, Maxwell S.;
Kaminska, Anna;
Vicart, Patrick;
Bushby, Kate;
Dalakas, Marinos C.;
Sambuughin, Nyamkhishig;
Ferrer, Isidro;
Goebel, Hans H.

Publication type:

Article

Prophylactic Implantable Cardioverter Defibrillator Placement in a Sporadic Desmin Related Myopathy and Cardiomyopathy.

Published in:

Pacing & Clinical Electrophysiology, 2004, v. 27, n. 4, p. 559, doi. 10.1111/j.1540-8159.2004.00484.x

By:

LUETHJE, LARS G. C.;
BOENNEMANN, CARSTEN;
GOLDFARB, LEV;
GOEBEL, HANS H.;
HALLE, MARTIN

Publication type:

Article

Meeting report of the 20th International Congress of Neuropathology (ICN) 2023 in Berlin.

Published in:

Brain Pathology, 2024, v. 34, n. 2, p. 1, doi. 10.1111/bpa.13249

By:

Goebel, Hans H.;
Koch, Arend;
Radbruch, Helena;
Schmid, Simone;
Friebel, Ekaterina;
Stenzel, Werner;
Heppner, Frank L.;
Capper, David

Publication type:

Article

Recent data and developments in myositis.

Published in:

Brain Pathology, 2021, v. 31, n. 3, p. 1, doi. 10.1111/bpa.12966

By:

Stenzel, Werner;
Goebel, Hans H.

Publication type:

Article

Actinopathies and Myosinopathies.

Published in:

Brain Pathology, 2009, v. 19, n. 3, p. 516, doi. 10.1111/j.1750-3639.2009.00287.x

By:

Goebel, Hans H.;
Laing, Nigel G.

Publication type:

Article

Introduction.

Published in:

Brain Pathology, 2009, v. 19, n. 3, p. 480, doi. 10.1111/j.1750-3639.2009.00291.x

By:

Goebel, Hans H.

Publication type:

Article

Introduction.

Published in:

Brain Pathology, 2004, v. 14, n. 1, p. 59, doi. 10.1111/j.1750-3639.2004.tb00498.x

By:

Goebel, Hans H.

Publication type:

Article

Current State of Clinical and Morphological Features in Human NCL.

Published in:

Brain Pathology, 2004, v. 14, n. 1, p. 61, doi. 10.1111/j.1750-3639.2004.tb00499.x

By:

Goebel, Hans H;
Wisniewski, Krystyna E.

Publication type:

Article

Introduction: Recent Advances in Hereditary Neuromuscular Diseases of Childhood.

Published in:

Brain Pathology, 2001, v. 11, n. 2, p. 190, doi. 10.1111/j.1750-3639.2001.tb00391.x

By:

Bornemann, Antje;
Goebel, Hans H.

Publication type:

Article

Congenital Myopathies.

Published in:

Brain Pathology, 2001, v. 11, n. 2, p. 206, doi. 10.1111/j.1750-3639.2001.tb00393.x

By:

Bornemann, Antje;
Goebel, Hans H.

Publication type:

Article

The 8th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease) - NCL 2000 20 - 24 September, 2000 Oxford, United Kingdom.

Published in:

Brain Pathology, 2001, v. 11, n. 2, p. 259, doi. 10.1111/j.1750-3639.2001.tb00397.x

By:

Goebel, Hans H.

Publication type:

Article

7th International Congress on Neuronal Ceroid-Lipofuscinoses (NCL-98) 13-16 June 1998, Dallas, USA.

Published in:

Brain Pathology, 1998, v. 8, n. 4, p. 809, doi. 10.1111/j.1750-3639.1998.tb00202.x

By:

Goebel, Hans H.

Publication type:

Article

Lysosomal and Peroxisomal Disorders. Recent Advances: Introduction.

Published in:

Brain Pathology, 1998, v. 8, n. 1, p. 73, doi. 10.1111/j.1750-3639.1998.tb00137.x

By:

Goebel, Hans H.;
Lake, Brian D.

Publication type:

Article

The Neuronal Ceroid-Lipofuscinoses. Recent Advances.

Published in:

Brain Pathology, 1998, v. 8, n. 1, p. 151, doi. 10.1111/j.1750-3639.1998.tb00142.x

By:

Goebel, Hans H.;
Sharp, Julie D.

Publication type:

Article

6th International Congress on Neuronal-Ceroid-Lipofuscinosis (NCL-96), June 8-11, 1996, Gustavelund, Finland.

Published in:

Brain Pathology, 1996, v. 6, n. 4, p. 525, doi. 10.1111/j.1750-3639.1996.tb00882.x

By:

Goebel, Hans H.

Publication type:

Article

Neuronal Ceroid-Lipofuscinosis - Late-Infantile or Jansky-Bielschowsky Type - Revisited.

Published in:

Brain Pathology, 1996, v. 6, n. 3, p. 225, doi. 10.1111/j.1750-3639.1996.tb00850.x

By:

Goebel, Hans H.;
Gerhard, Lieselotte;
Kominami, Eiki;
Haltia, Matti

Publication type:

Article

Workshop 6: Immunohistochemistry of Proteins in Neuromuscular Disorders.

Published in:

Brain Pathology, 1994, v. 4, n. 4, p. 321, doi. 10.1111/j.1750-3639.1994.tb00915.x

By:

Goebel, Hans H.

Publication type:

Article

MEETING REPORT.

Published in:

Brain Pathology, 1994, v. 4, n. 2, p. 199, doi. 10.1111/j.1750-3639.1994.tb00832.x

By:

Goebel, Hans H.

Publication type:

Article

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy.

Published in:

Nature Genetics, 1999, v. 23, n. 2, p. 208, doi. 10.1038/13837

By:

Nowak, Kristen J.;
Wattanasirichaigoon, Duangrurdee;
Goebel, Hans H.;
Wilce, Matthew;
Pelin, Katarina;
Donner, Kati;
Jacob, Rebecca L.;
Hübner, Christoph;
Oexle, Konrad;
Anderson, Janice R.;
Verity, Christopher M.;
North, Kathryn N.;
Iannaccone, Susan T.;
Müller, Clemens R.;
Nürnberg, Peter;
Muntoni, Francesco;
Sewry, Caroline;
Hughes, Imelda;
Sutphen, Rebecca

Publication type:

Article

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

Published in:

Journal of Neurology, 2004, v. 251, n. 2, p. 143, doi. 10.1007/s00415-004-0289-3

By:

Dagvadorj, Ayush;
Olivé, Montse;
Urtizberea, Jean-Andoni;
Halle, Martin;
Shatunov, Alexey;
Bönnemann, Carsten;
Kye-Yoon Park;
Goebel, Hans H.;
Ferrer, Isidro;
Vicart, Patrick;
Dalakas, Marinos C.;
Goldfarb, Lev G.

Publication type:

Article

Camptocormia associated with focal myositis in multiple-system atrophy.

Published in:

2006

By:

Diederich, Nico J.;
Goebel, Hans H.;
Dooms, Georges;
Bumb, Anja;
Huber, Frank;
Kompoliti, Katie;
Meinck, Hans-Michael M.

Publication type:

journal article

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

Published in:

Acta Neuropathologica, 2005, v. 109, n. 4, p. 411, doi. 10.1007/s00401-005-0980-1

By:

Vrabie, Alexandra;
Goldfarb, Lev G.;
Shatunov, Alexey;
Nägele, Andrea;
Fritz, Peter;
Kaczmarek, Ingo;
Goebel, Hans H.

Publication type:

Article

Hamartoma of the triceps surae muscle.

Published in:

Acta Neuropathologica, 1997, v. 94, n. 1, p. 91, doi. 10.1007/s004010050677

By:

Tews, D. S.;
Goebel, Hans H.;
Heffner, Reid R.;
Reitter, Bernd;
Vetter, Thomas;
Kreitner, Karl F.

Publication type:

Article

Immunohistochemistry of primary central nervous system malignant rhabdoid tumors: report of five cases and review of the literature.

Published in:

Acta Neuropathologica, 1996, v. 91, n. 6, p. 578, doi. 10.1007/s004010050470

By:

Behring, Bettina;
Brück, Wolfgang;
Goebel, Hans H.;
Behnke, Julianne;
Pekrun, Arnulf;
Christen, Hans-Jürgen;
Kretzschmar, H. A.

Publication type:

Article

ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/462592

By:

Braczynski, Anne K.;
Vlaho, Stefan;
Müller, Klaus;
Wittig, Ilka;
Blank, Anna-Eva;
Tews, Dominique S.;
Drott, Ulrich;
Kleinle, Stephanie;
Abicht, Angela;
Horvath, Rita;
Plate, Karl H.;
Stenzel, Werner;
Goebel, Hans H.;
Schulze, Andreas;
Harter, Patrick N.;
Kieslich, Matthias;
Mittelbronn, Michel

Publication type:

Article

Congenital myopathies at their molecular dawning.

Published in:

Muscle & Nerve, 2003, v. 27, n. 5, p. 527, doi. 10.1002/mus.10322

By:

Hans H. Goebel

Publication type:

Article

Spheroid body myopathy revisited.

Published in:

1997

By:

Goebel, Hans H.;
D'Agostino, Anthony N.;
Wilson, Jacob;
Cole, George;
Foroud, Tatiana;
Koller, Daniel;
Farlow, Martin;
Azzarelli, Biagio;
Muller, Jans;
Goebel, H H;
D'Agostino, A N;
Wilson, J;
Cole, G;
Foroud, T;
Koller, D;
Farlow, M;
Azzarelli, B;
Muller, J

Publication type:

journal article

Characteristic morphologic manifestation of CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, in skeletal muscle and skin.

Published in:

1997

By:

Goebel, Hans H.;
Meyermann, Richard;
Rosin, Regina;
Schlote, Wolfgang;
Goebel, H H;
Meyermann, R;
Rosin, R;
Schlote, W

Publication type:

journal article

Familial mixed congenital myopathy with rigid spine phenotype.

Published in:

1997

By:

Reichmann, Heinz;
Goebel, Hans H.;
Schneider, Christiane;
Toyka, Klaus V.;
Reichmann, H;
Goebel, H H;
Schneider, C;
Toyka, K V

Publication type:

journal article

Desmin-related neuromuscular disorders.

Published in:

Muscle & Nerve, 1995, v. 18, n. 11, p. 1306, doi. 10.1002/mus.880181114

By:

Goebel, Hans H.

Publication type:

Article

Focal myositis of the temporal muscle.

Published in:

Muscle & Nerve, 1993, v. 16, n. 12, p. 1374, doi. 10.1002/mus.880161216

By:

Naumann, Markus;
Toyka, Laus Viktor;
Goebel, Hans H.;
Hofmann, Erich;
Reichmann, Heinz

Publication type:

Article

Internalized myofiber capillaries: Observations on their origin and clinical features.

Published in:

Muscle & Nerve, 1989, v. 12, n. 3, p. 191, doi. 10.1002/mus.880120305

By:

Gutmann, Ludwig;
Wolf, Robert;
Nix, Wilfred;
Goebel, Hans H.;
Schochet, Sydney S.;
Hopf, Hanns C.;
Kramer, Günter

Publication type:

Article

Sural nerve biopsy studies in leigh's subacute necrotizing encephalomyelopathy.

Published in:

Muscle & Nerve, 1986, v. 9, n. 2, p. 165, doi. 10.1002/mus.880090210

By:

Goebel, Hans H.;
Bardosi, Attila;
Friede, Reinhard L.;
Kohlschütter, Alfried;
Albani, Michael;
Siemes, Hartmut

Publication type:

Article

Pathologie der muskulatur. By J. M. Schröder, 813 pp, Springer-Verlag, Berlin, West Germany, 1982. $293.10.

Published in:

Muscle & Nerve, 1983, v. 6, n. 8, p. 611, doi. 10.1002/mus.880060815

By:

Goebel, Hans H.

Publication type:

Article

Mallory body-like inclusions in a hereditary congenital neuromuscular disease.

Published in:

Muscle & Nerve, 1983, v. 6, n. 3, p. 195, doi. 10.1002/mus.880060305

By:

Fidzianska, Anna;
Goebel, Hans H.;
Osborn, Mary;
Lenard, Hans G.;
Osse, Günter;
Langenbeck, Ulrich

Publication type:

Article

The ultrastructure of the sural nerve in Pompe's disease.

Published in:

Annals of Neurology, 1977, v. 2, n. 2, p. 111, doi. 10.1002/ana.410020204

By:

Goebel, Hans H.;
Lenard, Hans G.;
Kohlschütter, Alfried;
Pilz, Hartmut

Publication type:

Article

Ultrastructural Myopathology in the Molecular Era*.

Published in:

Ultrastructural Pathology, 2013, v. 37, n. 5, p. 328, doi. 10.3109/01913123.2013.810690

By:

Goebel, Hans H.;
Stenzel, Werner

Publication type:

Article

Storage Diseases: Diagnostic Position.

Published in:

Ultrastructural Pathology, 2013, v. 37, n. 1, p. 19, doi. 10.3109/01913123.2012.670060

By:

Goebel, Hans H.;
Müller, Harald D.

Publication type:

Article

Practical Application of Electron Microscopy to Neuromuscular Diseases.

Published in:

Ultrastructural Pathology, 2013, v. 37, n. 1, p. 15, doi. 10.3109/01913123.2012.670045

By:

Goebel, Hans H.;
Stenzel, Werner

Publication type:

Article

Unusual Intracytoplasmic Electron-Dense Material in Nasu-Hakola Disease.

Published in:

Ultrastructural Pathology, 1991, v. 15, n. 1, p. 99, doi. 10.3109/01913129109021309

By:

Kondo, Akira;
Goebel, Hans H.;
Ghadially, F. N.

Publication type:

Article

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 12, p. 3634, doi. 10.1093/brain/awt283

By:

Krieger, Michael;
Roos, Andreas;
Stendel, Claudia;
Claeys, Kristl G.;
Sonmez, Fatma Mujgan;
Baudis, Michael;
Bauer, Peter;
Bornemann, Antje;
de Goede, Christian;
Dufke, Andreas;
Finkel, Richard S.;
Goebel, Hans H.;
Häussler, Martin;
Kingston, Helen;
Kirschner, Janbernd;
Medne, Livija;
Muschke, Petra;
Rivier, François;
Rudnik-Schöneborn, Sabine;
Spengler, Sabrina

Publication type:

Article

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

Published in:

2013

By:

Krieger, Michael;
Roos, Andreas;
Stendel, Claudia;
Claeys, Kristl G;
Sonmez, Fatma Mujgan;
Baudis, Michael;
Bauer, Peter;
Bornemann, Antje;
de Goede, Christian;
Dufke, Andreas;
Finkel, Richard S;
Goebel, Hans H;
Häussler, Martin;
Kingston, Helen;
Kirschner, Janbernd;
Medne, Livija;
Muschke, Petra;
Rivier, François;
Rudnik-Schöneborn, Sabine;
Spengler, Sabrina

Publication type:

Journal Article