Zobrazeno 1 - 10
of 631
pro vyhledávání: '"Markus Weber"'
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS
Autor:
Heather Marriott, Thomas P. Spargo, Ahmad Al Khleifat, Peter M Andersen, Nazli A. Başak, Johnathan Cooper‐Knock, Philippe Corcia, Philippe Couratier, Mamede deCarvalho, Vivian Drory, Marc Gotkine, John E. Landers, Russell McLaughlin, Jesús S. Mora Pardina, Karen E. Morrison, Susana Pinto, Christopher E. Shaw, Pamela J. Shaw, Vincenzo Silani, Nicola Ticozzi, Philip vanDamme, Leonard H. van denBerg, Patrick Vourc'h, Markus Weber, Jan H. Veldink, Project MinE ALS Sequencing Consortium, Richard J. Dobson, Patrick Schwab, Ammar Al‐Chalabi, Alfredo Iacoangeli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1775-1786 (2024)
Abstract Objective Neurofilament heavy‐chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening pa
Externí odkaz:
https://doaj.org/article/3bcb8a1d9b3c4724a5b304747dd4abc5
Autor:
Anna Rebecca Dorn, Sara Neff, Sophia Hupp, Melissa Engelhardt, Eric Pion, Ulrich Lenze, Carolin Knebel, Anna Duprée, Simone Schewe, Markus Weber, Christian Wulbrand, Axel Hillmann, Florian Weber, Phillip Clarke, Philipp Kainz, Thiha Aung, Silke Haerteis
Publikováno v:
Organoids, Vol 3, Iss 1, Pp 35-53 (2024)
Osteosarcomas are the most common primary malignant bone tumors and mostly affect children, adolescents, and young adults. Despite current treatment options such as surgery and polychemotherapy, the survival of patients with metastatic disease remain
Externí odkaz:
https://doaj.org/article/2f3ce05ca38c4906b406f1d7b6bf04fe
Autor:
Nico Seeger, Stefan Gutknecht, Irin Zschokke, Isabella Fleischmann, Nadja Roth, Jürg Metzger, Markus Weber, Stefan Breitenstein, Lukasz Filip Grochola
Publikováno v:
JMIR Research Protocols, Vol 13, p e54042 (2024)
BackgroundSingle-nucleotide variations (SNVs; formerly SNPs) are inherited genetic variants that can be easily determined in routine clinical practice using a simple blood or saliva test. SNVs have potential to serve as noninvasive biomarkers for pre
Externí odkaz:
https://doaj.org/article/0e5dbeb5630041beaf21d5acbb7728be
Autor:
René Günther, Claudia Diana Wurster, Svenja Brakemeier, Alma Osmanovic, Olivia Schreiber-Katz, Susanne Petri, Zeljko Uzelac, Miriam Hiebeler, Simone Thiele, Maggie C. Walter, Markus Weiler, Tobias Kessler, Maren Freigang, Hanna Sophie Lapp, Isabell Cordts, Paul Lingor, Marcus Deschauer, Andreas Hahn, Kyriakos Martakis, Robert Steinbach, Benjamin Ilse, Annekathrin Rödiger, Julia Bellut, Julia Nentwich, Daniel Zeller, Mohamad Tareq Muhandes, Tobias Baum, Jan Christoph Koch, Bertold Schrank, Sophie Fischer, Andreas Hermann, Christoph Kamm, Steffen Naegel, Alexander Mensch, Markus Weber, Christoph Neuwirth, Helmar C. Lehmann, Gilbert Wunderlich, Christian Stadler, Maike Tomforde, Annette George, Martin Groß, Astrid Pechmann, Janbernd Kirschner, Matthias Türk, Mareike Schimmel, Günther Bernert, Pascal Martin, Christian Rauscher, Gerd Meyer zu Hörste, Petra Baum, Wolfgang Löscher, Marina Flotats-Bastardas, Cornelia Köhler, Kristina Probst-Schendzielorz, Susanne Goldbach, Ulrike Schara-Schmidt, Wolfgang Müller-Felber, Hanns Lochmüller, Otgonzul von Velsen, Christoph Kleinschnitz, Albert C. Ludolph, Tim Hagenacker
Publikováno v:
The Lancet Regional Health. Europe, Vol 39, Iss , Pp 100862- (2024)
Summary: Background: Evidence for the efficacy of nusinersen in adults with 5q-associated spinal muscular atrophy (SMA) has been demonstrated up to a period of 16 months in relatively large cohorts but whereas patients reach a plateau over time is st
Externí odkaz:
https://doaj.org/article/290d74c1de7d42b58be5fe3b14b68827
Autor:
Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. Veldink, Project Mine Als Sequencing Consortium, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chio, Tobias Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer-Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-3 (2023)
Externí odkaz:
https://doaj.org/article/b08aebba67f346b6a340f3cc87fac551
Autor:
Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. Veldink, Project Mine Als Sequencing Consortium, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chio, Tobias Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer-Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Amyotrophic lateral sclerosis (ALS) has substantial heritability, in part shared with fronto-temporal dementia (FTD). We show that ALS heritability is enriched in splicing variants and in binding sites of 6 RNA-binding proteins including TDP
Externí odkaz:
https://doaj.org/article/6c41a4f4e8fe4f95afcbf96cee484c70
Autor:
Tobias Kappenschneider, Günther Maderbacher, Markus Weber, Felix Greimel, Dominik Holzapfel, Lukas Parik, Timo Schwarz, Franziska Leiss, Michael Knebl, Jan Reinhard, Amadeus Dominik Schraag, Max Thieme, Agathe Turn, Julia Götz, Magdalena Zborilova, Loreto C. Pulido, Fady Azar, Jan-Frederik Spörrer, Britta Oblinger, Frederik Pfalzgraf, Leonie Sundmacher, Iryna Iashchenko, Sebastian Franke, Benedikt Trabold, Katrin Michalk, Joachim Grifka, Matthias Meyer
Publikováno v:
BMC Musculoskeletal Disorders, Vol 23, Iss 1, Pp 1-13 (2022)
Abstract Background Due to demographic change, the number of older people in Germany and worldwide will continue to rise in the coming decades. As a result, the number of elderly and frail patients undergoing total hip and knee arthroplasty is projec
Externí odkaz:
https://doaj.org/article/528d01166c69406eb45887b298848307
Autor:
Michael Woerner, Korbinian Voelkl, Christopher Bliemel, Felix Ferner, Markus Weber, Tobias Renkawitz, Joachim Grifka, Benjamin Craiovan
Publikováno v:
Journal of International Medical Research, Vol 51 (2023)
Objective Femoral head necrosis (FHN) affects mostly young and active people. The most common operative therapy is core decompression (CD) with optional cancellous bone grafting (CBG). Because little information is available on the long-term results
Externí odkaz:
https://doaj.org/article/b25ab51091e84ca3ac076daa023cdb19
Autor:
Lucia Scheidler, Katrin Hippe, Sakhila Ghimire, Daniela Weber, Markus Weber, Elisabeth Meedt, Petra Hoffmann, Petra Lehn, Ralph Burkhardt, Andreas Mamilos, Matthias Edinger, Daniel Wolff, Hendrik Poeck, Matthias Evert, Andre Gessner, Wolfgang Herr, Ernst Holler
Publikováno v:
Haematologica, Vol 108, Iss 11 (2023)
Intestinal immunoglobulin A (IgA) is strongly involved in microbiota homeostasis. Since microbiota disruption is a major risk factor of acute graft-versus-host disease (GvHD), we addressed the kinetics of intestinal IgA-positive (IgA+) plasma cells b
Externí odkaz:
https://doaj.org/article/8f1272643dd64c11be40b69110048012
Autor:
Eliane Timm-Holzer, Franziska Tschan, Sandra Keller, Norbert K. Semmer, Jasmin Zimmermann, Simon A. Huber, Martin Hübner, Daniel Candinas, Nicolas Demartines, Markus Weber, Guido Beldi
Publikováno v:
Frontiers in Psychology, Vol 14 (2023)
BackgroundThe team timeout (TTO) is a safety checklist to be performed by the surgical team prior to incision. Exchange of critical information is, however, important not only before but also during an operation and members of surgical teams frequent
Externí odkaz:
https://doaj.org/article/719b777754c74af48f588b957db528e9