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Number of items: 4.

Journal Article

Clemen, Christoph S., Winter, Lilli ORCID: 0000-0002-6368-1160, Strucksberg, Karl-Heinz, Berwanger, Carolin, Tuerk, Matthias, Kornblum, Cornelia, Florin, Alexandra, Aguilar-Pimentel, Juan Antonio, Amarie, Oana Veronica, Becker, Lore ORCID: 0000-0002-6890-4984, Garrett, Lillian ORCID: 0000-0003-4880-7076, Hans, Wolfgang, Moreth, Kristin, Neff, Frauke, Pingen, Laura, Rathkolb, Birgit, Racz, Ildika, Rozman, Jan ORCID: 0000-0002-8035-8904, Treise, Irina, Fuchs, Helmut, Gailus-Durner, Valerie, de Angelis, Martin Hrabe ORCID: 0000-0002-7898-2353, Vorgerd, Matthias, Eichinger, Ludwig ORCID: 0000-0003-1594-6117 and Schroeder, Rolf (2018). The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice? Biochem. Biophys. Res. Commun., 503 (4). S. 2770 - 2778. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1090-2104

Hallmann, Kerstin, Kudin, Alexei P., Zsurka, Gabor ORCID: 0000-0002-6379-849X, Kornblum, Cornelia, Reimann, Jens, Stueve, Burkhard, Waltz, Stephan, Hattingen, Elke ORCID: 0000-0002-8392-9004, Thiele, Holger, Nuernberg, Peter, Rueb, Cornelia, Voos, Wolfgang, Kopatz, Jens, Neumann, Harald and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2016). Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. Brain, 139. S. 338 - 346. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Lang-Roth, Ruth, Fischer-Krall, Eva, Kornblum, Cornelia, Nuernberg, Gudrun, Meschede, Dieter, Goebel, Ingrid, Nuernberg, Peter, Beutner, Dirk, Kubisch, Christian ORCID: 0000-0003-4220-0978, Walger, Martin and Volk, Alexander E. (2017). AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance. Audiol. Neuro-Otol., 22 (1). S. 30 - 41. BASEL: KARGER. ISSN 1421-9700

Winter, Lilli ORCID: 0000-0002-6368-1160, Wittig, Ilka, Peeva, Viktoriya, Eggers, Britta ORCID: 0000-0002-6553-4631, Heidler, Juliana, Chevessier, Frederic, Kley, Rudolf A., Barkovits, Katalin, Strecker, Valentina, Berwanger, Carolin, Herrmann, Harald, Marcus, Katrin, Kornblum, Cornelia, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Schroeder, Rolf and Clemen, Christoph S. (2016). Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue. Acta Neuropathol., 132 (3). S. 453 - 474. NEW YORK: SPRINGER. ISSN 1432-0533

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