Works matching AU Erwa, Wolfgang


Results: 12
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    Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

    Published in:
    Journal of Neurology, 2014, v. 261, n. 5, p. 970, doi. 10.1007/s00415-014-7289-8
    By:
    • Schabhüttl, Maria;
    • Wieland, Thomas;
    • Senderek, Jan;
    • Baets, Jonathan;
    • Timmerman, Vincent;
    • De Jonghe, Peter;
    • Reilly, Mary;
    • Stieglbauer, Karl;
    • Laich, Eva;
    • Windhager, Reinhard;
    • Erwa, Wolfgang;
    • Trajanoski, Slave;
    • Strom, Tim;
    • Auer-Grumbach, Michaela
    Publication type:
    Article
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    Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.

    Published in:
    Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/7202589
    By:
    • Feichtinger, René G.;
    • Brunner-Krainz, Michaela;
    • Alhaddad, Bader;
    • Wortmann, Saskia B.;
    • Kovacs-Nagy, Reka;
    • Stojakovic, Tatjana;
    • Erwa, Wolfgang;
    • Resch, Bernhard;
    • Windischhofer, Werner;
    • Verheyen, Sarah;
    • Uhrig, Sabine;
    • Windpassinger, Christian;
    • Locker, Felix;
    • Makowski, Christine;
    • Strom, Tim M.;
    • Meitinger, Thomas;
    • Prokisch, Holger;
    • Sperl, Wolfgang;
    • Haack, Tobias B.;
    • Mayr, Johannes A.
    Publication type:
    Article
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    Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

    Published in:
    Human Mutation, 2007, v. 28, n. 1, p. 19, doi. 10.1002/humu.20433
    By:
    • Plecko, Barbara;
    • Paul, Karl;
    • Paschke, Eduard;
    • Stoeckler-Ipsiroglu, Sylvia;
    • Struys, Eduard;
    • Jakobs, Cornelis;
    • Hartmann, Hans;
    • Luecke, Thomas;
    • di Capua, Matteo;
    • Korenke, Christoph;
    • Hikel, Christiane;
    • Reutershahn, Elke;
    • Freilinger, Michael;
    • Baumeister, Fritz;
    • Bosch, Friedrich;
    • Erwa, Wolfgang
    Publication type:
    Article
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