Stage-dependent biomarker changes in spinocerebellar ataxia type 3.
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.
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.
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.
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
Prevalence of COVID-19 and Psychotropic Drug Treatment in Psychiatric In-patients in Germany in 2020: Results from a Nationwide Pilot Survey.
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
The vIGA-AD scale for atopic dermatitis: uptake in the past five years and position of the International Eczema Council.
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