Zobrazeno 1 - 10
of 452
pro vyhledávání: '"G Bernhard, Landwehrmeyer"'
Autor:
Maximilian Wagner, Gaojie Zhu, Fatima Khalid, Tamara Phan, Pallab Maity, Ludmila Lupu, Eric Agyeman-Duah, Sebastian Wiese, Katrin S. Lindenberg, Michael Schön, G. Bernhard Landwehrmeyer, Marianna Penzo, Stefan Kochanek, Karin Scharffetter-Kochanek, Medhanie Mulaw, Sebastian Iben
Publikováno v:
Neurobiology of Disease, Vol 201, Iss , Pp 106668- (2024)
Cockayne syndrome (CS) is an autosomal recessive disorder of developmental delay, multiple organ system degeneration and signs of premature ageing. We show here, using the RNA-seq data from two CS mutant cell lines, that the CS key transcriptional si
Externí odkaz:
https://doaj.org/article/349b40f258b5492b935e31bfffa22c23
Autor:
Franziska Hoschek, Julia Natan, Maximilian Wagner, Kirupa Sathasivam, Alshaimaa Abdelmoez, Björn von Einem, Gillian P. Bates, G. Bernhard Landwehrmeyer, Andreas Neueder
Publikováno v:
Molecular Medicine, Vol 30, Iss 1, Pp 1-11 (2024)
Abstract Background The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. The mutated CAG tract results in the production of a small RNA, HTT1a, coding for only exon 1 of HTT. HTT1a is
Externí odkaz:
https://doaj.org/article/9ec4c65459834bfbab4da67068402bb0
Autor:
Pearl J. C. van Lonkhuizen, Anne-Wil Heemskerk, Eline Meijer, Erik van Duijn, Susanne T. de Bot, Jiri Klempir, G. Bernhard Landwehrmeyer, Alzbeta Mühlbäck, Jennifer Hoblyn, Ferdinando Squitieri, Niels H. Chavannes, Niko J. H. Vegt, on behalf of the HEALTHE-RND consortium
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductioneHealth seems promising in addressing challenges in the provision of care for Huntington’s disease (HD) across Europe. By harnessing information and communication technologies, eHealth can partially relocate care from specialized center
Externí odkaz:
https://doaj.org/article/c2a05ea95ae44d88bc07fed6d6ea4859
Autor:
Andreas Neueder, Philipp Nitzschner, Ronja Wagner, Julia Hummel, Franziska Hoschek, Maximilian Wagner, Alshaimaa Abdelmoez, Björn vonEinem, G. Bernhard Landwehrmeyer, Sarah J. Tabrizi, Michael Orth
Publikováno v:
Clinical and Translational Medicine, Vol 14, Iss 1, Pp n/a-n/a (2024)
Externí odkaz:
https://doaj.org/article/19f6feb2cffc4452b1934535095a3080
Autor:
Franziska Hoschek, Julia Natan, Maximilian Wagner, Kirupa Sathasivam, Alshaimaa Abdelmoez, Björn von Einem, Gillian P. Bates, G. Bernhard Landwehrmeyer, Andreas Neueder
Publikováno v:
Molecular Medicine, Vol 30, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/2d846457660242f48e96f658de611dda
Autor:
Sergey V. Lobanov, Branduff McAllister, Mia McDade-Kumar, G. Bernhard Landwehrmeyer, Michael Orth, Anne E. Rosser, REGISTRY Investigators of the European Huntington’s disease network, Jane S. Paulsen, PREDICT-HD Investigators of the Huntington Study Group, Jong-Min Lee, Marcy E. MacDonald, James F. Gusella, Jeffrey D. Long, Mina Ryten, Nigel M. Williams, Peter Holmans, Thomas H. Massey, Lesley Jones
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract Huntington’s disease is caused by an expanded CAG tract in HTT. The length of the CAG tract accounts for over half the variance in age at onset of disease, and is influenced by other genetic factors, mostly implicating the DNA maintenance
Externí odkaz:
https://doaj.org/article/471abbf3af654a65a0a60f88b8f7af52
Autor:
Kevin Peikert, Alexander Storch, Andreas Hermann, G. Bernhard Landwehrmeyer, Ruth H. Walker, Greta Simionato, Lars Kaestner, Adrian Danek
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Externí odkaz:
https://doaj.org/article/bca5580bbe60406ca4368edb12dee373
Autor:
Annemarie E. M. Post, Thomas Klockgether, G. Bernhard Landwehrmeyer, Massimo Pandolfo, Astri Arnesen, Carola Reinhard, Holm Graessner
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Patient involvement in research increases the impact of research and the likelihood of adoption in clinical practice. A first step is to know which research themes are important for patients. We distributed a survey on research pr
Externí odkaz:
https://doaj.org/article/dae7d5d2778a4d64b1b57ea2c1406851
Autor:
Quang Tuan Rémy Nguyen, Juan Dario Ortigoza Escobar, Jean-Marc Burgunder, Caterina Mariotti, Carsten Saft, Lena Elisabeth Hjermind, Katia Youssov, G. Bernhard Landwehrmeyer, Anne-Catherine Bachoud-Lévi
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/842b211e24b54b5584c216ade7a2699e
Autor:
Quang Tuan Rémy Nguyen, Juan Dario Ortigoza Escobar, Jean-Marc Burgunder, Caterina Mariotti, Carsten Saft, Lena Elisabeth Hjermind, Katia Youssov, G. Bernhard Landwehrmeyer, Anne-Catherine Bachoud-Lévi
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
One percent of patients with a Huntington's disease (HD) phenotype do not have the Huntington (HTT) gene mutation. These are known as HD phenocopies. Their diagnosis is still a challenge. Our objective is to provide a diagnostic approach to HD phenoc
Externí odkaz:
https://doaj.org/article/3011f0d891484295bcee2021ed3f5e98