Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation

由 von Renesse, Anja, Morales-Gonzalez, Susanne, Gill, Esther, Salomons, Gajja S., Stenzel, Werner, Schuelke, Markus
發表在 JIMD Rep (2018)

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy

由 Schottmann, Gudrun, Seelow, Dominik, Seifert, Franziska, Morales-Gonzalez, Susanne, Gill, Esther, von Au, Katja, von Moers, Arpad, Stenzel, Werner, Schuelke, Markus
發表在 Neurol Genet (2015)

Blockade of ActRIIB Signaling Triggers Muscle Fatigability and Metabolic Myopathy

由 Relizani, Karima, Mouisel, Etienne, Giannesini, Benoit, Hourdé, Christophe, Patel, Ketan, Morales Gonzalez, Susanne, Jülich, Kristina, Vignaud, Alban, Piétri-Rouxel, France, Fortin, Dominique, Garcia, Luis, Blot, Stéphane, Ritvos, Olli, Bendahan, David, Ferry, Arnaud, Ventura-Clapier, Renée, Schuelke, Markus, Amthor, Helge
發表在 Mol Ther (2014)

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis

由 Gusic, Mirjana, Schottmann, Gudrun, Feichtinger, René G., Du, Chen, Scholz, Caroline, Wagner, Matias, Mayr, Johannes A., Lee, Chae-Young, Yépez, Vicente A., Lorenz, Norbert, Morales-Gonzalez, Susanne, Panneman, Daan M., Rötig, Agnès, Rodenburg, Richard J.T., Wortmann, Saskia B., Prokisch, Holger, Schuelke, Markus
發表在 Am J Hum Genet (2020)

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

由 Knierim, Ellen, Hirata, Hiromi, Wolf, Nicole I., Morales-Gonzalez, Susanne, Schottmann, Gudrun, Tanaka, Yu, Rudnik-Schöneborn, Sabine, Orgeur, Mickael, Zerres, Klaus, Vogt, Stefanie, van Riesen, Anne, Gill, Esther, Seifert, Franziska, Zwirner, Angelika, Kirschner, Janbernd, Goebel, Hans Hilmar, Hübner, Christoph, Stricker, Sigmar, Meierhofer, David, Stenzel, Werner, Schuelke, Markus
發表在 Am J Hum Genet (2016)

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

由 Burns, David T., Donkervoort, Sandra, Müller, Juliane S., Knierim, Ellen, Bharucha-Goebel, Diana, Faqeih, Eissa Ali, Bell, Stephanie K., AlFaifi, Abdullah Y., Monies, Dorota, Millan, Francisca, Retterer, Kyle, Dyack, Sarah, MacKay, Sara, Morales-Gonzalez, Susanne, Giunta, Michele, Munro, Benjamin, Hudson, Gavin, Scavina, Mena, Baker, Laura, Massini, Tara C., Lek, Monkol, Hu, Ying, Ezzo, Daniel, AlKuraya, Fowzan S., Kang, Peter B., Griffin, Helen, Foley, A. Reghan, Schuelke, Markus, Horvath, Rita, Bönnemann, Carsten G.
發表在 Am J Hum Genet (2018)