Zobrazeno 1 - 10
of 1 053
pro vyhledávání: '"Thomas Klopstock"'
Autor:
Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce Cohen, Gregory M. Ennes, Marni J. Falk, Amy Goldstein, Gráinne Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Maria Judit Molnar, Sumit Parikh, Han Phan, Robert D. S. Pitceathly, Russekk Saneto, Fernando Scaglia, Serenella Servidei, Mark Tarnopolsky, Antonio Toscano, Johan L. K. Van Hove, John Vissing, Jerry Vockley, Jeffrey S. Finman, Anthony Abbruscato, David A. Brown, Alana Sullivan, James A. Shiffer, Michelango Mancuso, on behalf of the MMPOWER-3 Trial Investigators
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background As previously published, the MMPOWER-3 clinical trial did not demonstrate a significant benefit of elamipretide treatment in a genotypically diverse population of adults with primary mitochondrial myopathy (PMM). However, the pres
Externí odkaz:
https://doaj.org/article/9ee65de424ba47d7a85aadc248d7ce12
Autor:
Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J. Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas Nadke, Alma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B. Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients with rare neurological
Externí odkaz:
https://doaj.org/article/dae4649b5a064957935d72b149d0ec67
Autor:
Luca Porcu, Mario Fichera, Lorenzo Nanetti, Eliana Rulli, Paola Giunti, Michael H. Parkinson, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Elisabetta Indelicato, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera, Ludger Schöls, Zofia Fleszar, Ilaria Giordano, Claire Didszun, Anna Castaldo, Myriam Rai, Thomas Klockgether, Massimo Pandolfo, Jörg B. Schulz, Kathrin Reetz, Caterina Mariotti, for the EFACTS Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2000-2012 (2023)
Abstract Background The Scale for Assessment and Rating of Ataxia (SARA) is widely used in different types of ataxias and has been chosen as the primary outcome measure in the European natural history study for Friedreich ataxia (FA). Methods To asse
Externí odkaz:
https://doaj.org/article/4c3b33ada73f4a84b5a8c6fca707bd4a
Autor:
Thomas Klopstock, Saadet Mercimek-Andrews, Agnieszka Jurecka, Patricia Wood, Maciej Cwyl, Angelika Klucken, Antonio López, Roberta Scalise, Andrea Valle, Fatemeh Mollet, Belen Perez-Duenas, Marta Skowronska, Magdalena Chroscinska-Krawczyk, Maria Luisa Escolar, Anna Wade, David Rintell
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disorder of PANK2, which enables mitochondrial synthesis of coenzyme A. Its loss causes neurodegeneration with iron accumulation primari
Externí odkaz:
https://doaj.org/article/397740004a1b45fa965e4a7adab07532
Autor:
Henrick Riemenschneider, Francesca Simonetti, Udit Sheth, Eszter Katona, Stefan Roth, Saskia Hutten, Daniel Farny, Meike Michaelsen, Brigitte Nuscher, Michael K. Schmidt, Andrew Flatley, Aloys Schepers, Lara A. Gruijs da Silva, Qihui Zhou, Thomas Klopstock, Arthur Liesz, Thomas Arzberger, Jochen Herms, Regina Feederle, Tania F. Gendron, Dorothee Dormann, Dieter Edbauer
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-26 (2023)
Abstract Cytoplasmic aggregation and concomitant nuclear clearance of the RNA-binding protein TDP-43 are found in ~ 90% of cases of amyotrophic lateral sclerosis and ~ 45% of patients living with frontotemporal lobar degeneration, but no disease-modi
Externí odkaz:
https://doaj.org/article/d7d0c5c3d184474fbef7b702542a9df6
Autor:
Maximilian Wiesenfarth, Johannes Dorst, David Brenner, Zeynep Elmas, Özlem Parlak, Zeljko Uzelac, Katharina Kandler, Kristina Mayer, Ulrike Weiland, Christine Herrmann, Joachim Schuster, Axel Freischmidt, Kathrin Müller, Reiner Siebert, Franziska Bachhuber, Tatiana Simak, Kornelia Günther, Elke Fröhlich, Antje Knehr, Martin Regensburger, Alexander German, Susanne Petri, Julian Grosskreutz, Thomas Klopstock, Peter Reilich, Florian Schöberl, Tim Hagenacker, Ute Weyen, René Günther, Maximilian Vidovic, Martin Jentsch, Thomas Haarmeier, Patrick Weydt, Ivan Valkadinov, Jasper Hesebeck-Brinckmann, Julian Conrad, Jochen Hans Weishaupt, Peggy Schumann, Peter Körtvélyessy, Thomas Meyer, Wolfgang Philipp Ruf, Simon Witzel, Makbule Senel, Hayrettin Tumani, Albert Christian Ludolph
Publikováno v:
EClinicalMedicine, Vol 69, Iss , Pp 102495- (2024)
Summary: Background: In April 2023, the antisense oligonucleotide tofersen was approved by the U.S. Food and Drug Administration (FDA) for treatment of SOD1-amyotrophic lateral sclerosis (ALS), after a decrease of neurofilament light chain (NfL) leve
Externí odkaz:
https://doaj.org/article/e3789dbd542444e5a7333ffea39056d9
Autor:
Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J. Buske, Laurie S. Conklin, Elin Haf Davies, Daria Julkowska, Yeonju Kim, Thomas Klopstock, Harumasa Nakamura, Kim G. Nielsen, Anne R. Pariser, Jose Carlos Pastor, Maurizio Scarpa, Maureen Smith, Domenica Taruscio, Stephen Groft
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Many patients with rare diseases are still lacking a timely diagnosis and approved therapies for their condition despite the tremendous efforts of the research community, biopharmaceutical, medical device industries, and patient s
Externí odkaz:
https://doaj.org/article/c9ca331354bc45bb934c597b9e06fa26
Autor:
Christian Hohenfeld, Ulrich Terstiege, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Lorenzo Nanetti, Mario Fichera, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Stefanie N. Hayer, Thomas Klockgether, Ilaria Giordano, Claire Didszun, Myriam Rai, Massimo Pandolfo, Holger Rauhut, Jörg B. Schulz, Kathrin Reetz
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract We explored whether disease severity of Friedreich ataxia can be predicted using data from clinical examinations. From the database of the European Friedreich Ataxia Consortium for Translational Studies (EFACTS) data from up to five examinat
Externí odkaz:
https://doaj.org/article/ed878735d7364c09bd52d4f117032190
Autor:
Kan Xie, Helmut Fuchs, Enzo Scifo, Dan Liu, Ahmad Aziz, Juan Antonio Aguilar-Pimentel, Oana Veronica Amarie, Lore Becker, Patricia da Silva-Buttkus, Julia Calzada-Wack, Yi-Li Cho, Yushuang Deng, A. Cole Edwards, Lillian Garrett, Christina Georgopoulou, Raffaele Gerlini, Sabine M. Hölter, Tanja Klein-Rodewald, Michael Kramer, Stefanie Leuchtenberger, Dimitra Lountzi, Phillip Mayer-Kuckuk, Lena L. Nover, Manuela A. Oestereicher, Clemens Overkott, Brandon L. Pearson, Birgit Rathkolb, Jan Rozman, Jenny Russ, Kristina Schaaf, Nadine Spielmann, Adrián Sanz-Moreno, Claudia Stoeger, Irina Treise, Daniele Bano, Dirk H. Busch, Jochen Graw, Martin Klingenspor, Thomas Klopstock, Beverly A. Mock, Paolo Salomoni, Carsten Schmidt-Weber, Marco Weiergräber, Eckhard Wolf, Wolfgang Wurst, Valérie Gailus-Durner, Monique M. B. Breteler, Martin Hrabě de Angelis, Dan Ehninger
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-29 (2022)
Lifespan can be affected by both physiological ageing and specific sets of pathologies associated with old age. Here the authors report a resource of large-scale cross-sectional phenotyping of aging male mice at different time points to analyse a lar
Externí odkaz:
https://doaj.org/article/0113605e46d14b5694c7bb3ab07c1fa9
Autor:
Jörg B Schulz, Kathrin Reetz, Sabrina Sayah, Feng Xie, Ludger Schöls, Thomas Klockgether, Thomas Klopstock, Sylvia Boesch, Alexandra Dürr, Elin Haf Davies, Maresa Buchholz, Niklas Weber, Stephanie Borel, Ivan Karin, Marcus Grobe-Einsler, Madeleine Schmeder, Andreas Nadke, Bernhard Michalowsky
Publikováno v:
BMJ Open, Vol 13, Iss 8 (2023)
Introduction Friedreich ataxia (FA) is the most common hereditary ataxia in Europe, characterised by progressively worsening movement and speech impairments with a typical onset before the age of 25 years. The symptoms affect the patients’ health-r
Externí odkaz:
https://doaj.org/article/bf2cf032245c4f42950300631be150bb