Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational studyResearch in context

Autor: Claudia Weiß, Lena-Luise Becker, Johannes Friese, Astrid Blaschek, Andreas Hahn, Sabine Illsinger, Oliver Schwartz, Günther Bernert, Maja von der Hagen, Ralf A. Husain, Klaus Goldhahn, Janbernd Kirschner, Astrid Pechmann, Marina Flotats-Bastardas, Gudrun Schreiber, Ulrike Schara, Barbara Plecko, Regina Trollmann, Veronka Horber, Ekkehard Wilichowski, Matthias Baumann, Andrea Klein, Astrid Eisenkölbl, Cornelia Köhler, Georg M. Stettner, Sebahattin Cirak, Oswald Hasselmann, Angela M. Kaindl, Sven F. Garbade, Jessika Johannsen, Andreas Ziegler, Petra Baum, Manuela Baumgartner, Astrid Bertsche, Markus Blankenburg, Jonas Denecke, Marcus Deschauer, Matthias Eckenweiler, Tobias Geis, Martin Groß, René Günther, Tim Hagenacker, Eckard Hamelmann, Christoph Kamm, Birgit Kauffmann, Jan Christoph Koch, Wolfgang Löscher, Albert Ludolph, Pascal Martin, Alexander Mensch, Gerd Meyer zu Hörste, Christoph Neuwirth, Susanne Petri, Manuel Pühringer, Imke Rathmann, Dorothee Schäfer, Mareike Schimmel, Bertold Schrank, Olivia Schreiber-Katz, Anette Schwerin-Nagel, Martin Smitka, Meike Steinbach, Elisabeth Steiner, Johannes Stoffels, Manuela Theophil, Raffi Topakian, Matthias Türk, Matthias Vorgerd, Maggie C. Walter, Markus Weiler, Gert Wiegand, Gilbert Wunderlich, Claudia Diana Wurster, Daniel Zeller, Moritz Metelmann, Fiona Zeiner, Veronika Pilshofer, Mika Rappold, Josefine Pauschek, Christof Reihle, Annette Karolin Homma, Paul Lingor, Bettina Henzi, Tabea Reinhardt, Dorothea Holzwarth, Wolfgang Wittmann, Stefan Kappel, Maren Freigang, Benjamin Stolte, Kyriakos Martakis, Georg Classen, Doris Roland-Schäfer, Daniela Steuernagel, Hans Hartmann, Sophie Fischer, Marieke Wermuth, Mohamad Tareq Muhandes, Anna Hotter, Zeljko Uzelac, Steffen Naegel, Sarah Wiethoff, Nathalie Braun, Bogdan Bjelica, Heike Kölbel, Daniela Angelova-Toshkina, Bernd Wilken, Alma Osmanovic, Barbara Fiedler, Maike Tomforde, Thomas Voelkl, Arpad von Moers, Petra Müller, Bettina Behring, Anne Güttsches, Peter Reilich, Wolfgang Wick, Corinna Stoltenburg, Simon Witzel, Julia Bellut, Georg Friedrich Hoffmann, Kathrin Mörtlbauer, Alexandra Ille, Michael Schroth, Joenna Driemeyer, Luisa Semmler, Cornelia Müller, Katharina Dörnbrack, Michael Zemlin, Stephanie Geitmann, Hanna Sophie Lapp, Svenja Brakemeier, Tascha Gehrke, Klearchos Ntemiris, Nadja Kaiser, Sabine Borowski, Barbara Ramadan, Ulf Hustedt, Tobias Baum, Ilka Schneider, Esra Akova-Oztürk, Katharina Vill, Zylfie Dibrani, Camilla Wohnrade, Adela Della-Marina, Lisa Jung, Timo Deba, Joachim Zobel, Jens Schallner, Christina Kraut, Peter Vollmann, Stephanie Schüssler, Melanie Roeder, Miriam Hiebeler, Nicole Berberich, Joanna Schneider, Brigitte Brauner, Stefan Kölker, Elke Pernegger, Magdalena Gosk-Tomek, Sarah Braun, Deike Weiss, Gerrit Machetanz, Thorsten Langer, Christina Saier, Sandra Baumann, Sabine Hettrich, Gabriel Dworschak, Katharina Müller-Kaempffer, Isabelle Dittes, Andreas Thimm, Lisa Quinten, Kristina Albers, Andrea Bevot, Christa Bretschneider, Johannes Dorst, Thomas Kendzierski, Iris Hannibal, Jasmin Bischofberger, Tilman Riesmeier, Andrea Gangfuß, Eva Johann to Settel, Michael Grässl, Susan Fiebig, Carmen Hollerauer, Lea Seeber, Ina Krahwinkler, Irene Lange, Federica Montagnese, Marcel Mann-Richter, Alexandra Wagner, Christine Leypold, Afshin Saffari, Elmecker Anna, Anna Wiesenhofer, Eva-Maria Wendel, Paula-Sophie Steffens, Sabine Wider, Adrian Tassoni, Andrea Dall, Franziska Busch, Daniela Zeisler, Maria Wessel, Jaqueline Lipka, Andrea Hackemer, Loreen Plugge, Eva Jansen, Erdmute Roth, Joachim Schuster, Anna Koelsch, Birgit Warken-Madelung, Michaela Schwippert, Britta Holtkamp, Katja Köbbing, Sander Claeys, Sandy Foerster, Simone Thiele, Heidi Rochau-Trumpp, Annette George, Moritz Niesert, Tanja Neimair, Katia Vettori, Julia Haverkamp, Jila Taherpour, Juliane Hug, Franziska Wenzel, Christina Bant, Ute Baur, Kathrin Bühner, Melina Schlag, Lena Ruß, Hanna Küpper, Anja Müller, Kurt Wollinsky, Therese Well, Antonia Leinert, Barbara Andres, Heymut Omran, Nicole Claus, Anna Hagenmeyer, Marion Schnurr, Vladimir Dukic, Albert Christian Ludolph, Sabine Specht, Verena Angermair, Anna Hüpper, Daniela Banholzer, Sabine Stein, Tim Kampowski, Marion Richmann, Sylke Nicolai, Omar Atta, Birgit Meßmer, Heike de Vries, Elisabeth Rotenfusser, Alma Oscmanovic, Isabelle Renger, Hélène Guillemot, Ilka Lehnert, Mike Grünwedel, Laura Grimm, Guido Stocker, Annegret Hoevel, Theresa Stadler, Michal Fischer, Sibylle Vogt, Axel Gebert, Susanne Goldbach, Hanns Lochmüller, Wolfgang Müller-Felber, Ulrike Schara-Schmidt, Kristina Probst-Schendzielorz, Annina Lang, Maren Nitzsche, Julie Hammer, Katharina Müller-Kaempfer, Corinna Wirner-Piotrowski, Lieske van der Stam, Anke Bongartz, Cornelia Enzmann, Joël Fluss, Elea Galiart, David Jacquier, Dominique Baumann Metzler, Anne Tscherter

Publikováno v: The Lancet Regional Health. Europe, Vol 47, Iss , Pp 101092- (2024)

Summary: Background: Real-world data on gene addition therapy (GAT) with onasemnogene abeparvovec (OA), including all age groups and with or without symptoms of the disease before treatment are needed to provide families with evidence-based advice an

Externí odkaz: https://doaj.org/article/d70df10bcbf64e44ab80eb2ebad4ea6f

Evaluation of Fuel Quality, Throughput Rate and Energy Consumption During Non-Industrial Wood Chip Production with Three PTO Driven Chippers

Autor: Daniel Kuptz, Hans Hartmann

Publikováno v: Croatian Journal of Forest Engineering, Vol 43, Iss 1, Pp 109-122 (2022)

Physical wood chip quality is essential for failure-free and low emission combustion in small-scale boilers ≤100 kW. In Bavaria, these furnaces are often operated by farmers or private forest owners that produce their own fuels using small to mediu

Externí odkaz: https://doaj.org/article/dfdd3c9b53c442cf9108cbebba8eef74

Editorial: Advances in Early Onset Epilepsies

Autor: Alasdair Patrick John Parker, Hans Hartmann, Patrick Van Bogaert

Publikováno v: Frontiers in Neurology, Vol 12 (2021)

Externí odkaz: https://doaj.org/article/f3b92617546c4a3ead37fb1a7c51cd0d

Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

Autor: Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C. Kingswood, Anna C. Jansen, Nobuo Shinohara, Shigeo Horie, Masaya Kubota, Jun Tohyama, Katsumi Imai, Mari Kaneda, Hideo Kaneko, Yasushi Uchida, Tomoko Kirino, Shoichi Endo, Yoshikazu Inoue, Katsuhisa Uruno, Ayse Serdaroglu, Zuhal Yapici, Banu Anlar, Sakir Altunbasak, Olga Lvova, Oleg Valeryevich Belyaev, Oleg Agranovich, Elena Vladislavovna Levitina, Yulia Vladimirovna Maksimova, Antonina Karas, Yuwu Jiang, Liping Zou, Kaifeng Xu, Yushi Zhang, Guoming Luan, Yuqin Zhang, Yi Wang, Meiling Jin, Dingwei Ye, Weiping Liao, Liemin Zhou, Jie Liu, Jianxiang Liao, Bo Yan, Yanchun Deng, Li Jiang, Zhisheng Liu, Shaoping Huang, Hua Li, Kijoong Kim, Pei-Lung Chen, Hsiu-Fen Lee, Jeng-Dau Tsai, Ching-Shiang Chi, Chao-Ching Huang, Kate Riney, Deborah Yates, Patrick Kwan, Surachai Likasitwattanakul, Charcrin Nabangchang, Lunliya Thampratankul Krisnachai Chomtho, Kamornwan Katanyuwong, Somjit Sriudomkajorn, Jo Wilmshurst, Reeval Segel, Tal Gilboa, Michal Tzadok, Aviva Fattal-Valevski, Panagiotis Papathanasopoulos, Antigone Syrigou Papavasiliou, Stylianos Giannakodimos, Stylianos Gatzonis, Evangelos Pavlou, Meropi Tzoufi, A. M. H. Vergeer, Marc Dhooghe, Hélène Verhelst, Filip Roelens, Marie Cecile Nassogne, Pierre Defresne, Liesbeth De Waele, Patricia Leroy, Nathalie Demonceau, Benjamin Legros, Patrick Van Bogaert, Berten Ceulemans, Lina Dom, Pierre Castelnau, Anne De Saint Martin, Audrey Riquet, Mathieu Milh, Claude Cances, Jean-Michel Pedespan, Dorothee Ville, Agathe Roubertie, Stéphane Auvin, Patrick Berquin, Christian Richelme, Catherine Allaire, Sophie Gueden, Sylvie Nguyen The Tich, Bertrand Godet, Maria Luz Ruiz Falco Rojas, Jaume Campistol Planas, Antonio Martinez Bermejo, Patricia Smeyers Dura, Susana Roldan Aparicio, Maria Jesus Martinez Gonzalez, Javier Lopez Pison, Manuel Oscar Blanco Barca, Eduardo Lopez Laso, Olga Alonso Luengo, Francisco Javier Aguirre Rodriguez, Ignacio Malaga Dieguez, Ana Camacho Salas, Itxaso Marti Carrera, Eduardo Martinez Salcedo, Maria Eugenia Yoldi Petri, Ramon Cancho Candela, Ines da Conceicao Carrilho, Jose Pedro Vieira, José Paulo da Silva Oliveira Monteiro, Miguel Jorge Santos de Oliveira Ferreira Leao, Catarina Sofia Marceano Ribeiro Luis, Carla Pires Mendonca, Milda Endziniene, Jurgis Strautmanis, Inga Talvik, Maria Paola Canevini, Antonio Gambardella, Dario Pruna, Salvatore Buono, Elena Fontana, Bernardo Dalla Bernardina, Carmen Burloiu, Iuliu Stefan Bacos Cosma, Mihaela Adela Vintan, Laura Popescu, Karel Zitterbart, Jaroslava Payerova, Ladislav Bratsky, Zuzana Zilinska, Ursula Gruber-Sedlmayr, Matthias Baumann, Edda Haberlandt, Kevin Rostasy, Ekaterina Pataraia, Frances Elmslie, Clare Ann Johnston, Pamela Crawford, Peter Uldall, Paul Uvebrant, Olof Rask, Marit Bjoernvold, Eylert Brodtkorb, Andreas Sloerdahl, Ragnar Solhoff, Martine Sofie Gilje Jaatun, Marek Mandera, Elzbieta Janina Radzikowska, Mariusz Wysocki, Michael Fischereder, Gerhard Kurlemann, Bernd Wilken, Adelheid Wiemer-Kruel, Klemens Budde, Klaus Marquard, Markus Knuf, Andreas Hahn, Hans Hartmann, Andreas Merkenschlager, Regina Trollmann

Publikováno v: Frontiers in Neurology, Vol 11 (2020)

Background: Knowledge is increasing about TSC-Associated Neuropsychiatric Disorders (TAND), but little is known about the potentially confounding effects of intellectual ability (IA) on the rates of TAND across age, sex, and genotype. We evaluated TA

Externí odkaz: https://doaj.org/article/0d2a822147c14b50947f4f220e1b67cb

DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1

Autor: Hind, Chaib, Jan-Christoph, Schoene-Bake, Assel, Saryyeva, Thomas, Jack, Hans, Hartmann, Joachim K, Krauss

Publikováno v: Child's Nervous System. 38:1821-1824

Introduction Patients with variants in the GNAO1 gene may present with life-threatening dystonic storm. There is little experience using pallidal deep brain stimulation (DBS) as an emergency treatment in such cases. Case description We report on a 16

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9da516290f2a3be88b493a9cd9df69f4
https://doi.org/10.1007/s00381-022-05582-9