Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

by Chiabrando, Deborah, Castori, Marco, di Rocco, Maja, Ungelenk, Martin, Gießelmann, Sebastian, Di Capua, Matteo, Madeo, Annalisa, Grammatico, Paola, Bartsch, Sophie, Hübner, Christian A., Altruda, Fiorella, Silengo, Lorenzo, Tolosano, Emanuela, Kurth, Ingo
Published in PLoS Genet (2016)

The difficulty to model Huntington’s disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells

by Le Cann, Kim, Foerster, Alec, Rösseler, Corinna, Erickson, Andelain, Hautvast, Petra, Giesselmann, Sebastian, Pensold, Daniel, Kurth, Ingo, Rothermel, Markus, Mattis, Virginia B., Zimmer-Bensch, Geraldine, von Hörsten, Stephan, Denecke, Bernd, Clarner, Tim, Meents, Jannis, Lampert, Angelika
Published in Sci Rep (2021)

Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss

by Huebner, Antje K., Gandia, Marta, Frommolt, Peter, Maak, Anika, Wicklein, Eva M., Thiele, Holger, Altmüller, Janine, Wagner, Florian, Viñuela, Antonio, Aguirre, Luis A., Moreno, Felipe, Maier, Hannes, Rau, Isabella, Gießelmann, Sebastian, Nürnberg, Gudrun, Gal, Andreas, Nürnberg, Peter, Hübner, Christian A., del Castillo, Ignacio, Kurth, Ingo
Published 2011

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

by Koehler, Katrin, Malik, Meera, Mahmood, Saqib, Gießelmann, Sebastian, Beetz, Christian, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nürnberg, Gudrun, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Brämswig, Jürgen, Mühlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile, Kurth, Ingo, Huebner, Angela, Hübner, Christian A.
Published 2013

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

by Lausberg, Eva, Gießelmann, Sebastian, Dewulf, Joseph P., Wiame, Elsa, Holz, Anja, Salvarinova, Ramona, van Karnebeek, Clara D., Klemm, Patricia, Ohl, Kim, Mull, Michael, Braunschweig, Till, Weis, Joachim, Sommer, Clemens J., Demuth, Stephanie, Haase, Claudia, Stollbrink-Peschgens, Claudia, Debray, François-Guillaume, Libioulle, Cecile, Choukair, Daniela, Oommen, Prasad T., Borkhardt, Arndt, Surowy, Harald, Wieczorek, Dagmar, Wagner, Norbert, Meyer, Robert, Eggermann, Thomas, Begemann, Matthias, Van Schaftingen, Emile, Häusler, Martin, Tenbrock, Klaus, van den Heuvel, Lambert, Elbracht, Miriam, Kurth, Ingo, Kraft, Florian
Published in J Clin Invest (2021)

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

by Florian, Rahel T., Kraft, Florian, Leitão, Elsa, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi, van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle, Hirsch, Edouard, Kroes, Thessa, Reif, Philipp S., Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, LeGuern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie, Gecz, Jozef, Corbett, Mark A., Tijssen, Marina A. J., van den Maagdenberg, Arn M. J. M., Depienne, Christel
Published in Nat Commun (2019)