Thomas Deufel - Dissemin

Papers authored by Thomas Deufel

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2006 J. Schickel, C. Beetz, C. Frommel, G. Heide, A. Sasse, P. Hemmerich, T. Deufel

Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin)

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Thomas Deufel

, Michael Kiehntopf

Putting science to work: novel diagnostic strategies in laboratory medicine

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2005 Amelie Lupp, Elke Karge, Manfred Danz, Thomas Deufel

, Herbert Oelschläger, Wolfgang Klinger

Single and chronic administration of ciprofibrate or of ciprofibrate-glycinate in male Fischer 344 rats: Comparison of the effects on morphological and biochemical parameters in liver and blood

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Christiane Seidel, Thomas Deufel

, Gerhard Jahreis

Effects of Fat-Modified Dairy Products on Blood Lipids in Humans in Comparison with Other Fats

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2004 Christian Beetz, Michael Brodhun, Konstantin Moutzouris, Michael Kiehntopf, Alexander Berndt, Dirk Lehnert, Thomas Deufel

, Martin Bastmeyer, Jörg Schickel

Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system

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Christian Beetz, Armin Hartmann, Michael Kiehntopf, Stefan Wölfl, Rolf Kalff, Thomas Deufel

, Stephan Patt

Rapid generation of detailed loss of heterozygosity profiles for routine diagnosis of gliomas

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2003 A. Schwindt, P. Navratil, D. Palm, C. Neumann, S. Klimpe, J. Schickel, J. Hazan, C. Weiller, T. Deufel

, J. Liepert, D. Bönsch

Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene

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Thomas Wieser, Christoph Mueller, Stefan Evers, Stephan Zierz, Thomas Deufel

Absence of Known Familial Hemiplegic Migraine (FHM) Mutations in the CACNA1A Gene in Patients with common Migraine: Implications for Genetic Testing

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2002 D. Bönsch, C. Neumann, R. Lang-Roth, O. Witte, A. Lamprecht-Dinnesen, T. Deufel

PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype

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Michael Kiehntopf, Bärbel von der Gönne, Jörg Schickel, Bärbel von der Gönne, Hans Georg Koch, Andrea Superti-Furga, Beat Steinmann, Thomas Deufel

, Erik Harms

Analysis of the CTNS Gene in Patients of German and Swiss Origin with Nephropathic Cystinosis

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S. Sauter, B. Miterski, S. Klimpe, D. Bönsch, L. Schöls, A. Visbeck, T. Papke, H. C. Hopf, W. Engel, T. Deufel

, J. T. Epplen, J. Neesen

Mutation analysis of thespastingene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

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Jörg Schickel, Katharina Stahn, Klaus-Peter Zimmer, Ralf Sudbrak, Tim M. Størm, Matthias Dürst, Michael Kiehntopf, Thomas Deufel

Gene for integrin-associated protein (IAP, CD47): Physical mapping, genomic structure, and expression studies in skeletal muscle

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2001 Dominikus Bönsch, Petra Scheer, Cora Neumann, Ruth Lang-Roth, Eberhard Seifert, Peter Storch, Cornelius Weiller, Antoinette Lamprecht-Dinnesen, Thomas Deufel

A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus

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A. Urwyler, T. Deufel

, T. McCarthy, S. West

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia

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2000 Delphine Mavel, Delphine Samson, Michael Hutchinson, Paul McMonagle, Antonio Tartaglione, Olivier Heinzlef, Nollaig Parfrey, Bertrand Fontaine, Jean-François Prud'homme, Jean Weissenbach, Jamilé Hazan, Paula Byrne, Claire-Sophie Davoine, Corinne Cruaud, Dominikus Bönsch and 7 other authors

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

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Rolf Stucka, Angela Abicht, In-Ho Song, Dominikus Bönsch, Thomas Deufel

, Hanns Lochmüller

A modified alignment of human and rodent 5′ untranslated sequences of the acetylcholine receptor epsilon subunit gene reveals additional regions of high homology

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Dimitrios Georgiadis, Anja Berger, Anja Bergera, Ellen Kowatschev, Ellen Kowatscheva, Christine Lautenschläger, Angelika Börner, Alfred Lindner, Wilhelm Schulte-Mattler, Hans-Reinhard Zerkowski, Stephan Zierz, Thomas Deufel

Predictive value of S-100β and neuron-specific enolase serum levels for adverse neurologic outcome after cardiac surgery

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1998 Andreas Braun, Thomas Deufel

, Wolf-Jochen Geilenkeuser, Michael Neumaier, Gerhard Röhle, Adelbert Roscher, Christoph Wagener

External Quality Assessment of Molecular Biology-Based Methods Used in Laboratories of Clinical Chemistry and Human Genetics

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

1997 S. Evers, H.-G. Koch, K.-H. Grotemeyer, B. Lange, T. Deufel

, E.-B. Ringelstein

Features, Symptoms, and Neurophysiological Findings in Stroke Associated With Hyperhomocysteinemia

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Michael Richter, Lothar Schleithoff, Thomas Deufel

, Frank Lehmann Horn, Annegret Herrmann Frank

Functional Characterization of a Distinct Ryanodine Receptor Mutation in Human Malignant Hyperthermia-susceptible Muscle

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Papers authored by Thomas Deufel