Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Jan C Koch"'
Autor:
Sebastian J Müller, Eya Khadhraoui, Ibrahim Allam, Loukas Argyriou, Ute Hehr, Jan Liman, Gerd Hasenfuß, Mathias Bähr, Christian H Riedel, Jan C Koch
Publikováno v:
Clinical and Translational Neuroscience, Vol 4 (2020)
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL, Maeda syndrome) is an extremely rare autosomal-recessive genetic disorder with a serious arteriopathy causing subcortical infarcts and leukoencephal
Externí odkaz:
https://doaj.org/article/17bec10d1481483c80032acd55fb55a9
Autor:
Jian-Nan Zhang, Jan C Koch
Publikováno v:
Neural Regeneration Research, Vol 12, Iss 5, Pp 692-695 (2017)
Axonal degeneration is a key pathological feature in many neurological diseases. It often leads to persistent deficits due to the inability of axons to regenerate in the central nervous system. Therefore therapeutic approaches should optimally both a
Externí odkaz:
https://doaj.org/article/b92492c0dd6a41b78e3e790e11d97c2b
Autor:
Jochen H. Weishaupt, Péter Körtvélyessy, Peggy Schumann, Ivan Valkadinov, Ute Weyen, Jasper Hesebeck-Brinckmann, Kanchi Weishaupt, Matthias Endres, Peter M. Andersen, Martin Regensburger, Marie Dreger, Jan C. Koch, Julian Conrad, Thomas Meyer
Publikováno v:
Communications Medicine, Vol 4, Iss 1, Pp 1-5 (2024)
Abstract Background Since the antisense oligonucleotide tofersen has recently become available for the treatment of amyotrophic lateral sclerosis (ALS) caused by mutations in SOD1, determining the causality of the over 230 SOD1 variants has become ev
Externí odkaz:
https://doaj.org/article/6dd37b8edbb149059b7df64c953bc24a
Autor:
Maren Freigang, Petra Steinacker, Claudia D. Wurster, Olivia Schreiber‐Katz, Alma Osmanovic, Susanne Petri, Jan C. Koch, Kevin Rostásy, André Huss, Hayrettin Tumani, Benedikt Winter, Björn Falkenburger, Albert C. Ludolph, Markus Otto, Andreas Hermann, René Günther
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 9, Pp 1437-1448 (2022)
Abstract Objective Activated astroglia is involved in the pathophysiology of neurodegenerative diseases and has also been described in animal models of spinal muscular atrophy (SMA). Given the urgent need of biomarkers for treatment monitoring of new
Externí odkaz:
https://doaj.org/article/c8b8f412413243a2be7148386f821a08
Autor:
Wolfgang P Ruf, Matej Boros, Axel Freischmidt, David Brenner, Veselin Grozdanov, Joao de Meirelles, Thomas Meyer, Torsten Grehl, Susanne Petri, Julian Grosskreutz, Ute Weyen, Rene Guenther, Martin Regensburger, Tim Hagenacker, Jan C Koch, Alexander Emmer, Annekathrin Roediger, Robert Steinbach, Joachim Wolf, Jochen H Weishaupt, Paul Lingor, Marcus Deschauer, Isabell Cordts, Thomas Klopstock, Peter Reilich, Florian Schoeberl, Berthold Schrank, Daniel Zeller, Andreas Hermann, Antje Knehr, Kornelia Günther, Johannes Dorst, Joachim Schuster, Reiner Siebert, Albert C Ludolph, Kathrin Müller
Publikováno v:
Brain communications 5(3), fcad152 (2023). doi:10.1093/braincomms/fcad152
Therapy of motoneuron diseases entered a new phase with the use of intrathecal antisense oligonucleotide therapies treating patients with specific gene mutations predominantly in the context of familial amyotrophic lateral sclerosis. With the majorit
Autor:
Tim Ripperger, Winfried Hofmann, Jan C. Koch, Katayoon Shirneshan, Detlef Haase, Gerald Wulf, Peter R. Issing, Matthias Karnebogen, Gunnar Schmidt, Bernd Auber, Brigitte Schlegelberger, Thomas Illig, Birgit Zirn, Doris Steinemann
Publikováno v:
Haematologica, Vol 103, Iss 2 (2018)
Externí odkaz:
https://doaj.org/article/af110bbbb64a47e1928006932ade6439
Autor:
Christoph Münch, Susanne Petri, Claudia D. Wurster, Albert C. Ludolph, Julian Grosskreutz, Olivia Schreiber-Katz, Tim Hagenacker, Bertram Walter, Markus Weiler, Robert Steinbach, Ramona Griep, Benjamin Stolte, A. Rödiger, Zeljko Uzelac, Maren Freigang, Jan C. Koch, Jenny Norden, Marcel Gaudlitz, Ute Weyen, Susanne Spittel, André Maier, Thomas Meyer, Alma Osmanovic, René Günther, Dagmar Kettemann, Johannes Dorst
Publikováno v:
European journal of neurology 28(8), 2582-2595 (2021). doi:10.1111/ene.14902
Background and purpose This was an investigation of treatment expectations and of the perception of therapy in adult patients with 5q-associated spinal muscular atrophy (5q-SMA) receiving nusinersen. Methods A prospective, non-interventional observat
Autor:
Manju A. Kurian, Joanna M. Flowers, Kishore R. Kumar, Glenn Anderson, Sniya Sudhakar, Matej Skorvanek, Bernhard Haslinger, Kshitij Mankad, Martje E. van Egmond, Corien Verschuuren, Rauan Kaiyrzhanov, Nicholas W. Wood, Arianna Ferrini, Nardo Nardocci, Riccardo Berutti, Arcangela Iuso, Barbara Plecko, Juliane Winkelmann, Matias Wagner, P. Darveniza, Philippe Coubes, Arianna Tucci, Paulina Gonzalez-Latapi, Ryan L. Davis, Diane Demailly, Katy Barwick, Erik-Jan Kamsteeg, Kai Bötzel, Tomasz Kmieć, Ján Necpál, Giovanna Zorzi, Derek Burke, Sylvia Boesch, Dora Steel, Barbara Garavaglia, Steven J. Lubbe, Bernabé I. Bustos, Carolyn M. Sue, Chen Zhao, Meriel McEntagart, Stephen Tisch, Henry Houlden, Jan C. Koch, Robert Jech, Sarah Wiethoff, Michael Zech, Laura Cif, Niccolo E. Mencacci, Marina A. J. Tijssen, Suvasini Sharma, Kathryn J. Peall, Paul Gissen, Kathleen M. Gorman
Publikováno v:
Annals of Neurology. 88:867-877
Objectives The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognised. We aimed to investigate this paucity of diagnoses. Methods We un
The axonal cytoskeleton is organized in a highly periodic structure, the membrane-associated periodic skeleton (MPS), which is essential to maintain the structure and function of the axon. Here, we use stimulated emission depletion microscopy (STED)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f052d6751cc8e9f41bcfe394118773e1
https://doi.org/10.1101/2021.11.04.467310
https://doi.org/10.1101/2021.11.04.467310
Autor:
Albert C. Ludolph, Pavel Schischlevskij, Daniel Zeller, Martin Regensburger, Tim Hagenacker, Claudia Stendel, Ute Weyen, Thomas Klopstock, Benjamin Stolte, Ilka Schneider, Camilla Binz, Olivia Schreiber-Katz, Moritz Metelmann, Zacharias Kohl, Marcus Deschauer, Andreas Hermann, Joachim Wolf, Susanne Petri, Jan C. Koch, Matthias Boentert, Johannes Dorst, René Günther, Isabell Cordts, Paul Lingor, Ralf A. Linker, Alma Osmanovic, Lars H. Müschen, Carsten Schröter
Publikováno v:
Brain Sciences; Volume 11; Issue 6; Pages: 748
Brain Sciences 11(6), 748-(2021). doi:10.3390/brainsci11060748
Brain Sciences, Vol 11, Iss 748, p 748 (2021)
Brain Sciences
Brain Sciences 11(6), 748-(2021). doi:10.3390/brainsci11060748
Brain Sciences, Vol 11, Iss 748, p 748 (2021)
Brain Sciences
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that causes progressive autonomy loss and need for care. This does not only affect patients themselves, but also the patients’ informal caregivers (CGs) in their health, perso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23f15d5e215193127219c0c7dba04fdf
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/16745
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/16745