Zobrazeno 1 - 10
of 158
pro vyhledávání: '"Steffen, Syrbe"'
Autor:
Julian Schröter, Luca Deininger, Blaz Lupse, Petra Richter, Steffen Syrbe, Ralf Mikut, Sabine Jung-Klawitter
Publikováno v:
Scientific Data, Vol 11, Iss 1, Pp 1-10 (2024)
Abstract Brain organoids represent a useful tool for modeling of neurodevelopmental disorders and can recapitulate brain volume alterations such as microcephaly. To monitor organoid growth, brightfield microscopy images are frequently used and evalua
Externí odkaz:
https://doaj.org/article/57735131f5a34b809ff9c2ea93c166ad
Autor:
Konstantin L. Makridis, Kerstin Alexandra Klotz, Georgia Ramantani, Lena‐Luise Becker, Victoria San Antonio‐Arce, Steffen Syrbe, Kathrin Wagner, Mukesch Johannes Shah, Ulrich‐Wilhelm Thomale, Anna Tietze, Christian E. Elger, Ingo Borggraefe, Angela M. Kaindl
Publikováno v:
Epilepsia Open, Vol 8, Iss 3, Pp 1182-1189 (2023)
Abstract Although epilepsy surgery is the only curative therapeutic approach for lesional drug‐resistant epilepsy (DRE), there is reluctance to operate on infants due to a fear of complications. A recent meta‐analysis showed that epilepsy surgery
Externí odkaz:
https://doaj.org/article/042924e4e8514d13ab7940ff51d22b24
Autor:
Fabienne Kühne, Lena‐Luise Becker, Thomas Bast, Astrid Bertsche, Ingo Borggraefe, Christian Malte Boßelmann, Jörg Fahrbach, Christoph Hertzberg, Nina A. Herz, Martin Hirsch, Martin Holtkamp, Christine Janello, Gerhard Josef Kluger, Gerhard Kurlemann, Holger Lerche, Konstantin L. Makridis, Felix vonPodewils, Milka Pringsheim, Susanne Schubert‐Bast, Juliane Schulz, Andreas Schulze‐Bonhage, David Steinbart, Bernhard J. Steinhoff, Adam Strzelczyk, Steffen Syrbe, Heike De Vries, Christiane Wagner, Johanna Wagner, Bernd Wilken, Christine Prager, Kerstin A. Klotz, Angela M. Kaindl
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 360-370 (2023)
Abstract Objective Cannabidiol (CBD) is approved for treatment of Dravet syndrome (DS), Lennox‐Gastaut syndrome (LGS), and tuberous sclerosis complex (TSC). Several studies suggest antiseizure effects also beyond these three epilepsy syndromes. Met
Externí odkaz:
https://doaj.org/article/852156134b764262ae16db8390951ec2
Autor:
Margarita Maltseva, Susanne Schubert-Bast, Johann Philipp Zöllner, Thomas Bast, Thomas Mayer, Sarah von Spiczak, Susanne Ruf, Regina Trollmann, Markus Wolff, Frauke Hornemann, Kerstin A. Klotz, Julia Jacobs, Gerhard Kurlemann, Bernd A. Neubauer, Tilman Polster, Steffen Syrbe, Astrid Bertsche, Ulrich Bettendorf, Gerhard Kluger, Silke Flege, Felix Rosenow, Lara Kay, Adam Strzelczyk
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)
Abstract Background This study measured sleep quality among caregivers of patients with Dravet syndrome (DS) and assessed the impacts of mental health problems and caregiver burden on sleep quality. Methods This multicenter, cross-sectional study of
Externí odkaz:
https://doaj.org/article/825ddba58c014a71a7878d0972bc38f4
Autor:
Julian Schröter, Tal Dattner, Jennifer Hüllein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffmann, Stefan Kölker, Dominic Lenz, Thomas Opladen, Bernt Popp, Christian P. Schaaf, Christian Staufner, Steffen Syrbe, Sebastian Uhrig, Daniel Hübschmann, Heiko Brennenstuhl
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 21, Iss , Pp 1077-1083 (2023)
The widespread use of high-throughput sequencing techniques is leading to a rapidly increasing number of disease-associated variants of unknown significance and candidate genes. Integration of knowledge concerning their genetic, protein as well as fu
Externí odkaz:
https://doaj.org/article/31fff396829a4de39c3c03926e275ef4
Autor:
Julian Schröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Steffen Syrbe, Sabine Jung-Klawitter
Publikováno v:
Stem Cell Research, Vol 64, Iss , Pp 102879- (2022)
TUBB2A tubulinopathy is a rare neurodevelopmental disorder with developmental delay, epilepsy, and less frequent malformations of cortical development compared to other tubulinopathies. Peripheral blood mononuclear cells (PBMCs) from a male subject h
Externí odkaz:
https://doaj.org/article/3e01d29634824097b305598287d7073a
Autor:
Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie van der Ven, Christian Malte Boßelmann, Johannes Lemke, Steffen Syrbe, Marjolein Hanna Willemsen, Ulrike Barbara Stefanie Hedrich, Ingo Helbig, Yvonne Weber
Publikováno v:
EBioMedicine, Vol 83, Iss , Pp 104234- (2022)
Summary: Objective: Fibroblast Growth Factor 12 (FGF12) may represent an important modulator of neuronal network activity and has been associated with developmental and epileptic encephalopathy (DEE). We sought to identify the underlying pathomechani
Externí odkaz:
https://doaj.org/article/9b7caa81b2d8413d952650a2d1d40fe9
Autor:
Janina Grau, Johann Philipp Zöllner, Susanne Schubert-Bast, Gerhard Kurlemann, Christoph Hertzberg, Adelheid Wiemer-Kruel, Thomas Bast, Astrid Bertsche, Ulrich Bettendorf, Barbara Fiedler, Andreas Hahn, Hans Hartmann, Frauke Hornemann, Ilka Immisch, Julia Jacobs, Matthias Kieslich, Karl Martin Klein, Kerstin A. Klotz, Gerhard Kluger, Markus Knuf, Thomas Mayer, Klaus Marquard, Sascha Meyer, Hiltrud Muhle, Karen Müller-Schlüter, Anna H. Noda, Susanne Ruf, Matthias Sauter, Jan-Ulrich Schlump, Steffen Syrbe, Charlotte Thiels, Regina Trollmann, Bernd Wilken, Laurent M. Willems, Felix Rosenow, Adam Strzelczyk
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)
Abstract Background Tuberous sclerosis complex (TSC), a multisystem genetic disorder, affects many organs and systems, characterized by benign growths. This German multicenter study estimated the disease-specific costs and cost-driving factors associ
Externí odkaz:
https://doaj.org/article/6b5b4f15ce534c76ba366fc0ad9156c1
Autor:
Davor Lessel, Daniela M. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie-Rosell, Marie McDonald, Bernarda Lozic, Ee-Shien Tan, Erica Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld-Huijssoon, Henny H. Lemmink, Breana W. M. Cham, Tanja Kovacevic, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jeremie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith-Rae Dias, Carey-Anne Evans, Peter Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P. A. Stegmann, Christian Kubisch, Ene-Choo Tan, Ghayda M. Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans-Jürgen Kreienkamp
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
AGO2 binds to miRNAs to repress expression of cognate target mRNAs. Here the authors report that heterozygous AGO2 mutations result in defects in neurological development and impair RNA interference.
Externí odkaz:
https://doaj.org/article/d67d1cc583c34e7f9e0a8f4ce72015a2
Autor:
Sven Jarius, Christian Lechner, Eva M. Wendel, Matthias Baumann, Markus Breu, Mareike Schimmel, Michael Karenfort, Adela Della Marina, Andreas Merkenschlager, Charlotte Thiels, Astrid Blaschek, Michela Salandin, Steffen Leiz, Frank Leypoldt, Alexander Pschibul, Annette Hackenberg, Andreas Hahn, Steffen Syrbe, Jurgis Strautmanis, Martin Häusler, Peter Krieg, Astrid Eisenkölbl, Johannes Stoffels, Matthias Eckenweiler, Ilya Ayzenberg, Jürgen Haas, Romana Höftberger, Ingo Kleiter, Mirjam Korporal-Kuhnke, Marius Ringelstein, Klemens Ruprecht, Nadja Siebert, Kathrin Schanda, Orhan Aktas, Friedemann Paul, Markus Reindl, Brigitte Wildemann, Kevin Rostásy, in cooperation with the BIOMARKER study group and the Neuromyelitis optica Study Group (NEMOS)
Publikováno v:
Journal of Neuroinflammation, Vol 17, Iss 1, Pp 1-28 (2020)
Abstract Background New-generation, cell-based assays have demonstrated a robust association of serum autoantibodies to full-length human myelin oligodendrocyte glycoprotein (MOG-IgG) with (mostly recurrent) optic neuritis, myelitis, and brainstem en
Externí odkaz:
https://doaj.org/article/3a8c04aecdfb447aae5ebe0170a114a9