Alterations of Excitation–Contraction Coupling and Excitation Coupled Ca2+ Entry in Human Myotubes Carrying CAV3 Mutations Linked to Rippling Muscle Disease

by Ullrich, Nina D, Fischer, Dirk, Kornblum, Cornelia, Walter, Maggie C, Niggli, Ernst, Zorzato, Francesco, Treves, Susan
Published 2011

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

by Minnerop, Martina, Weber, Bernd, Schoene-Bake, Jan-Christoph, Roeske, Sandra, Mirbach, Sandra, Anspach, Christian, Schneider-Gold, Christiane, Betz, Regina C., Helmstaedter, Christoph, Tittgemeyer, Marc, Klockgether, Thomas, Kornblum, Cornelia
Published 2011

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

by Nicholls, Thomas J., Zsurka, Gábor, Peeva, Viktoriya, Schöler, Susanne, Szczesny, Roman J., Cysewski, Dominik, Reyes, Aurelio, Kornblum, Cornelia, Sciacco, Monica, Moggio, Maurizio, Dziembowski, Andrzej, Kunz, Wolfram S., Minczuk, Michal
Published 2014

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy

by Winter, Lilli, Türk, Matthias, Harter, Patrick N., Mittelbronn, Michel, Kornblum, Cornelia, Norwood, Fiona, Jungbluth, Heinz, Thiel, Christian T., Schlötzer-Schrehardt, Ursula, Schröder, Rolf
Published 2016

Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue

by Winter, Lilli, Wittig, Ilka, Peeva, Viktoriya, Eggers, Britta, Heidler, Juliana, Chevessier, Frederic, Kley, Rudolf A., Barkovits, Katalin, Strecker, Valentina, Berwanger, Carolin, Herrmann, Harald, Marcus, Katrin, Kornblum, Cornelia, Kunz, Wolfram S., Schröder, Rolf, Clemen, Christoph S.
Published 2016