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featured publications

  • CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

    European journal of human genetics : EJHG

    Authors: Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Susanne H Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M Reis, Elena V Semina, Miriam S Reuter, Stephen W Scherer, Maria Iascone, Denisa Weis, Christina R Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B Haack, Despoina C Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M Krawitz, Johannes R Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer

  • Diphtheria toxin activates ribotoxic stress and NLRP1 inflammasome-driven pyroptosis.

    The Journal of experimental medicine

    Authors: Kim Samirah Robinson, Gee Ann Toh, Muhammad Jasrie Firdaus, Khek Chian Tham, Pritisha Rozario, Chrissie K Lim, Ying Xiu Toh, Zhi Heng Lau, Sophie Charlotte Binder, Jacob Mayer, Carine Bonnard, Florian I Schmidt, John E A Common, Franklin L Zhong

  • Phosphorylation-state dependent intraneuronal sorting of Aβ differentially impairs autophagy and the endo-lysosomal system.

    Autophagy

    Authors: Akshay Kapadia, Sandra Theil, Sabine Opitz, Nàdia Villacampa, Hannes Beckert, Susanne Schoch-McGovern, Michael T Heneka, Sathish Kumar, Jochen Walter

  • Comparison between regular additional endobiliary radiofrequency ablation and photodynamic therapy in patients with advanced extrahepatic cholangiocarcinoma under systemic chemotherapy.

    Frontiers in oncology

    Authors: Christian Möhring, Oliver Khan, Taotao Zhou, Farsaneh Sadeghlar, Robert Mahn, Dominik J Kaczmarek, Leona Dold, Marieta Toma, Milka Marinova, Tim R Glowka, Hanno Matthaei, Steffen Manekeller, Jörg C Kalff, Christian P Strassburg, Tobias J Weismüller, Maria A Gonzalez-Carmona

  • Engineered arylsulfatase A with increased activity, stability and brain delivery for therapy of metachromatic leukodystrophy.

    Molecular therapy : the journal of the American Society of Gene Therapy

    Authors: Claudia Yaghootfam, Marc Sylvester, Boris Turk, Volkmar Gieselmann, Ulrich Matzner

  • Impact of the use of GeneXpert on TB diagnosis and anti-TB treatment outcome at health facilities in Addis Ababa, Ethiopia in the post-millennium development years.

    PloS one

    Authors: Desalegn Addise Getahun, Laura E Layland, Achim Hoerauf, Biniam Wondale

  • TRI-SCORE and benefit of intervention in patients with severe tricuspid regurgitation.

    European heart journal

    Authors: Julien Dreyfus, Xavier Galloo, Maurizio Taramasso, Gregor Heitzinger, Giovanni Benfari, Karl-Patrick Kresoja, Fernando Juarez-Casso, Hazem Omran, Yohann Bohbot, Christos Iliadis, Giulio Russo, Yan Topilsky, Marcel Weber, Luis Nombela-Franco, Alessandra Sala, Andrea Eixerés-Esteve, Bernard Iung, Jean-François Obadia, Rodrigo Estevez Loureiro, Elisabeth Riant, Erwan Donal, Jörg Hausleiter, Luigi Badano, Thierry Le Tourneau, Augustin Coisne, Thomas Modine, Azeem Latib, Fabien Praz, Stephan Windecker, Jose Luis Zamorano, Ralph Stephan von Bardeleben, Gilbert H L Tang, Rebecca Hahn, John Webb, Denisa Muraru, Mohammed Nejjari, Vincent Chan, Michele De Bonis, Manuel Carnero-Alcazar, Georg Nickenig, Roman Pfister, Christophe Tribouilloy, Volker Rudolph, Juan Crestanello, Philipp Lurz, Philipp Bartko, Francesco Maisano, Jeroen Bax, Maurice Enriquez-Sarano, David Messika-Zeitoun

  • Prevalence and determinants of over- and undertreatment among users of antihypertensive drugs in the general population: The Rhineland Study.

    European journal of preventive cardiology

    Authors: Nersi Alaeddin, Gökhan Pehlivan, Julia C Stingl, Monique M B Breteler, Folgerdiena M de Vries

  • Unexpected bonds: Ubiquitin-like conjugation of cGAS/CD-NTases supports their enzymatic activity and antiphage defense.

    Signal transduction and targeted therapy

    Authors: Katarzyna Andryka-Cegielski, Sofía Soler, Eva Bartok

  • Altered Notch signalling in Dowling-Degos disease: A transcriptomic insight into disease pathogenesis.

    The British journal of dermatology

    Authors: Sheetal Kumar, Jonas Hausen, Sugirthan Sivalingam, Aytaj Humbatova, Andreas Buness, Jorge Frank, Damian J Ralser, Regina C Betz