No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria

by Kathrin Olschok, Udo Vester, Sven Lahme, Ingo Kurth, Thomas Eggermann
Published 2018-10-01

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

by Florian Kraft, Katharina Wesseler, Matthias Begemann, Ingo Kurth, Miriam Elbracht, Thomas Eggermann
Published 2019-02-01

MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy.

by Evaldas Girdauskas, Johannes Petersen, Niklas Neumann, Martin Ungelenk, Ingo Kurth, Hermann Reichenspurner, Tanja Zeller
Published 2018-01-01

Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neu...

by Thomas Klein, Katharina Klug, Lisa Henkel, Chee Keong Kwok, Frank Edenhofer, Eva Klopocki, Ingo Kurth, Nurcan Üçeyler
Published 2019-03-01

Sepsis induces long-lasting impairments in CD4+ T-cell responses despite rapid numerical recovery of T-lymphocyte populations.

by Christoph Ammer-Herrmenau, Upasana Kulkarni, Nico Andreas, Martin Ungelenk, Sarina Ravens, Christian Hübner, Angela Kather, Ingo Kurth, Michael Bauer, Thomas Kamradt
Published 2019-01-01

Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P mice.

by Matthias Ebbinghaus, Lorena Tuchscherr, Gisela Segond von Banchet, Lutz Liebmann, Volker Adams, Mieczyslaw Gajda, Christian A Hübner, Ingo Kurth, Hans-Georg Schaible
Published 2020-01-01

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

by Christiane D. Much, Konrad Schwefel, Dariush Skowronek, Loay Shoubash, Felix von Podewils, Miriam Elbracht, Stefanie Spiegler, Ingo Kurth, Agnes Flöel, Henry W. S. Schroeder, Ute Felbor, Matthias Rath
Published 2019-11-01

Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study

by Nadine Egenolf, Caren Meyer zu Altenschildesche, Luisa Kreß, Katja Eggermann, Barbara Namer, Franziska Gross, Alexander Klitsch, Tobias Malzacher, Daniel Kampik, Rayaz A. Malik, Ingo Kurth, Claudia Sommer, Nurcan Üçeyler
Published 2021-03-01

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

by Deborah Chiabrando, Marco Castori, Maja di Rocco, Martin Ungelenk, Sebastian Gießelmann, Matteo Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth
Published 2016-12-01

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

by Kim Le Cann, Alec Foerster, Corinna Rösseler, Andelain Erickson, Petra Hautvast, Sebastian Giesselmann, Daniel Pensold, Ingo Kurth, Markus Rothermel, Virginia B. Mattis, Geraldine Zimmer-Bensch, Stephan von Hörsten, Bernd Denecke, Tim Clarner, Jannis Meents, Angelika Lampert
Published 2021-03-01

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

by Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J. Musholt, Martin Zenker, Dirk Prawitt, Alberto M. Pereira, Olaf Hiort, on behalf of the European Reference Network on Rare Endocrine Conditions (ENDO-ERN
Published 2020-06-01

Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors

by Barbara Namer, Diana Schmidt, Esther Eberhardt, Michele Maroni, Eva Dorfmeister, Inge Petter Kleggetveit, Luisa Kaluza, Jannis Meents, Aaron Gerlach, Zhixin Lin, Andreas Winterpacht, Elena Dragicevic, Zacharias Kohl, Jürgen Schüttler, Ingo Kurth, Torhild Warncke, Ellen Jorum, Beate Winner, Angelika Lampert
Published 2019-01-01

Genetic Variants in the Promoter Region of the Macrophage Migration Inhibitory Factor are Associated with the Severity of Hepatitis C Virus-Induced Liver Fibrosis

by Theresa Hildegard Wirtz, Petra Fischer, Christina Backhaus, Irina Bergmann, Elisa Fabiana Brandt, Daniel Heinrichs, Maria Teresa Koenen, Kai Markus Schneider, Thomas Eggermann, Ingo Kurth, Christian Stoppe, Jürgen Bernhagen, Tony Bruns, Janett Fischer, Thomas Berg, Christian Trautwein, Marie-Luise Berres
Published 2019-07-01

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.

by Rita-Eva Varga, Mukhran Khundadze, Markus Damme, Sandor Nietzsche, Birgit Hoffmann, Tobias Stauber, Nicole Koch, J Christopher Hennings, Patricia Franzka, Antje K Huebner, Michael M Kessels, Christoph Biskup, Thomas J Jentsch, Britta Qualmann, Thomas Braulke, Ingo Kurth, Christian Beetz, Christian A Hübner
Published 2015-08-01

A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.

by Mukhran Khundadze, Katrin Kollmann, Nicole Koch, Christoph Biskup, Sandor Nietzsche, Geraldine Zimmer, J Christopher Hennings, Antje K Huebner, Judit Symmank, Amir Jahic, Elena I Ilina, Kathrin Karle, Ludger Schöls, Michael Kessels, Thomas Braulke, Britta Qualmann, Ingo Kurth, Christian Beetz, Christian A Hübner
Published 2013-01-01

A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain

by Jianying Huang, Jianying Huang, Mark Estacion, Mark Estacion, Peng Zhao, Peng Zhao, Fadia B. Dib-Hajj, Fadia B. Dib-Hajj, Betsy Schulman, Betsy Schulman, Angela Abicht, Angela Abicht, Ingo Kurth, Knut Brockmann, Stephen G. Waxman, Stephen G. Waxman, Sulayman D. Dib-Hajj, Sulayman D. Dib-Hajj
Published 2019-09-01

Balance between macrophage migration inhibitory factor and sCD74 predicts outcome in patients with acute decompensation of cirrhosis

by Theresa H. Wirtz, Philipp A. Reuken, Christian Jansen, Petra Fischer, Irina Bergmann, Christina Backhaus, Christoph Emontzpohl, Johanna Reißing, Elisa F. Brandt, M. Teresa Koenen, Kai M. Schneider, Robert Schierwagen, Maximilian J. Brol, Johannes Chang, Henning W. Zimmermann, Nilay Köse-Vogel, Thomas Eggermann, Ingo Kurth, Christian Stoppe, Richard Bucala, Jürgen Bernhagen, Michael Praktiknjo, Andreas Stallmach, Christian Trautwein, Jonel Trebicka, Tony Bruns, Marie-Luise Berres
Published 2021-04-01

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

by Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne
Published 2019-10-01