Publications

Stage-dependent biomarker changes in spinocerebellar ataxia type 3.

14/11/2023 Annals of neurology

Authors: Jennifer Faber, Moritz Berger, Carlo Wilke, Jeannette Hubener-Schmid, Tamara Schaprian, Magda M Santana, Marcus Grobe-Einsler, Demet Onder, Berkan Koyak, Paola Giunti, Hector Garcia-Moreno, Cristina Gonzalez-Robles, Manuela Lima, Mafalda Raposo, Ana Rosa Vieira Melo, Luís Pereira de Almeida, Patrick Silva, Maria M Pinto, Bart P van de Warrenburg, Judith van Gaalen, Jeroen de Vries, Gulin Oz, James M Joers, Matthis Synofzik, Ludger Schols, Olaf Riess, Jon Infante, Leire Manrique, Dagmar Timmann, Andreas Thieme, Heike Jacobi, Kathrin Reetz, Imis Dogan, Chiadikaobi Onyike, Michal Povazan, Jeremy Schmahmann, Eva-Maria Ratai, Matthias Schmid, Thomas Klockgether

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

14/11/2023 The Journal of clinical investigation

Authors: Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Daniëlle Gm Bosch, Gijs van Haaften, Leslie Granger, Andrea K Petersen, Luis A Pérez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlíková Pourová, Zdenek Sedlacek, Beth A Keena, Michael E March, Cuiping Hou, Nora O'Connor, Elizabeth J Bhoj, Margaret H Harr, Gabrielle Lemire, Kym M Boycott, Meghan C Towne, Megan Li, Mark Tarnopolsky, Lauren Brady, Michael J Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J Maarup, Melissa Byler, Robert Roger Lebel, Tugce B Balci, Raymond J Louie, Michael J Lyons, Jessica Douglas, Catherine B Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M Maas, Mahdi M Motazacker, Julian A Martinez-Agosto, Ahna M Rabani, Elizabeth M McCormick, Marni Falk, Sarah M Ruggiero, Ingo Helbig, Rikke S Møller, Lino Tessarollo, Francesco Tomassoni-Ardori, Mary Ellen Palko, Tzung-Chien Hsieh, Peter M Krawitz, Mythily Ganapathi, Bruce D Gelb, Vaidehi Jobanputra, Ashley Wilson, John Greally, Sébastien Jacquemont, Khadijé Jizi, Bruel Ange-Line, Chloé Quelin, Vinod K Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna Ce Hurst, Michelle L Thompson, Ryan J Schmidt, Linda M Randolph, Rebecca C Spillmann, Vandana Shashi, Edward J Higginbotham, Dawn Cordeiro, Amanda Carnevale, Gregory Costain, Tayyaba Khan, Benoît Funalot, Frederic Tran Mau-Them, Luis Fernandez Garcia Moya, Sixto García-Miñaúr, Matthew Osmond, Lauren Chad, Nada Quercia, Diana Carrasco, Chumei Li, Amarilis Sanchez-Valle, Meghan Kelley, Mathilde Nizon, Brynjar O Jensson, Patrick Sulem, Kari Stefansson, Svetlana Gorokhova, Tiffany Busa, Marlène Rio, Hamza Hadj Abdallah, Marion Lesieur-Sebellin, Jeanne Amiel, Véronique Pingault, Sandra Mercier, Marie Vincent, Christophe Philippe, Clemence Fatus-Fauconnier, Kathryn Friend, Rebecca K Halligan, Sunita Biswas, Jane Mr Rosser, Cheryl Shoubridge, Mark A Corbett, Christopher Barnett, Jozef Gecz, Kathleen A Leppig, Anne Slavotinek, Carlo Marcelis, Rolph Pfundt, Bert Ba de Vries, Marjon A van Slegtenhorst, Alice S Brooks, Benjamin Cogne, Thomas Rambaud, Zeynep Tümer, Elaine H Zackai, Naiara Akizu, Yuanquan Song, Hakon Hakonarson

Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias.

13/11/2023 Pediatric radiology

Authors: Sebastian Rassmann, Alexandra Keller, Kyra Skaf, Alexander Hustinx, Ruth Gausche, Miguel A Ibarra-Arrelano, Tzung-Chien Hsieh, Yolande E D Madajieu, Markus M Nöthen, Roland Pfäffle, Ulrike I Attenberger, Mark Born, Klaus Mohnike, Peter M Krawitz, Behnam Javanmardi

Aberrant hippocampal Ca micro-waves following synapsin-dependent adenoviral expression of Ca indicators.

11/11/2023 bioRxiv : the preprint server for biology

Authors: Nicola Masala, Manuel Mittag, Eleonora Ambrad Giovannetti, Darik A O'Neil, Fabian Distler, Peter Rupprecht, Fritjof Helmchen, Rafael Yuste, Martin Fuhrmann, Heinz Beck, Michael Wenzel, Tony Kelly

NULISA: a proteomic liquid biopsy platform with attomolar sensitivity and high multiplexing.

09/11/2023 Nature communications

Authors: Wei Feng, Joanne C Beer, Qinyu Hao, Ishara S Ariyapala, Aparna Sahajan, Andrei Komarov, Katie Cha, Mason Moua, Xiaolei Qiu, Xiaomei Xu, Shweta Iyengar, Thu Yoshimura, Rajini Nagaraj, Li Wang, Ming Yu, Kate Engel, Lucas Zhen, Wen Xue, Chen-Jung Lee, Chan Ho Park, Cheng Peng, Kaiyuan Zhang, Adrian Grzybowski, Johnnie Hahm, Susanne V Schmidt, Alexandru Odainic, Jasper Spitzer, Kasun Buddika, Dwight Kuo, Lei Fang, Bingqing Zhang, Steve Chen, Eicke Latz, Yiyuan Yin, Yuling Luo, Xiao-Jun Ma

The vIGA-AD scale for atopic dermatitis: uptake in the past five years and position of the International Eczema Council.

09/11/2023 Journal of the European Academy of Dermatology and Venereology : JEADV

Authors: Robert Bissonnette, Eric Simpson, Lawrence F Eichenfield, Emma Guttman-Yassky, Jonathan I Silverberg, Lisa A Beck, Lorena Mija, Jacob P Thyssen, Thomas Bieber, Kenji Kabashima, Elaine Siegfried, Georg Stingl, Peter van de Kerkhof, Gil Yosipovitch, Carle Paul, Amy S Paller

Prevalence of COVID-19 and Psychotropic Drug Treatment in Psychiatric In-patients in Germany in 2020: Results from a Nationwide Pilot Survey.

09/11/2023 Pharmacopsychiatry

Authors: Juliane K Mueller, Kira F Ahrens, Michael Bauer, Bernhard T Baune, Stefan Borgwardt, Jürgen Deckert, Katharina Domschke, Regina Ellwanger, Andreas Fallgatter, Thomas Frodl, Jürgen Gallinat, René Gottschalk, Hans J Grabe, Alkomiet Hasan, Sabine C Herpertz, Rene Hurlemann, Frank Jessen, Joseph Kambeitz, Tilo Kircher, Johannes Kornhuber, Klaus Lieb, Andreas Meyer-Lindenberg, Rainer Rupprecht, Norbert Scherbaum, Christiane Schlang, Anja Schneider, Georg Schomerus, Andreas Thoma, Stefan Unterecker, Martin Walter, Henrik Walter, Andreas Reif, Christine Reif-Leonhard

Trained immunity: Target for prophylaxis and therapy.

08/11/2023 Cell host & microbe

Authors: Athanasios Ziogas, Mariolina Bruno, Roy van der Meel, Willem J M Mulder, Mihai G Netea

FitMultiCell: Simulating and parameterizing computational models of multi-scale and multi-cellular processes.

08/11/2023 Bioinformatics (Oxford, England)

Authors: Emad Alamoudi, Yannik Schälte, Robert Müller, Jörn Starruß, Nils Bundgaard, Frederik Graw, Lutz Brusch, Jan Hasenauer

β-adrenergic signaling triggers enteric glial reactivity and acute enteric gliosis during surgery.

08/11/2023 Journal of neuroinflammation

Authors: Patrick Leven, Reiner Schneider, Linda Schneider, Shilpashree Mallesh, Pieter Vanden Berghe, Philipp Sasse, Jörg C Kalff, Sven Wehner