Zobrazeno 1 - 10
of 288
pro vyhledávání: '"the investigators of the European Huntington's Disease Network"'
Autor:
Anna Stanisławska-Sachadyn, Michał Krzemiński, Daniel Zielonka, Magdalena Krygier, Ewa Ziętkiewicz, Jarosław Sławek, Janusz Limon, REGISTRY investigators of the European Huntington’s Disease Network (EHDN)
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Huntington’s disease (HD) is a hereditary neurodegenerative disorder caused by the extension of the CAG repeats in exon 1 of the HTT gene and is transmitted in a dominant manner. The present study aimed to assess whether patients’ sex, i
Externí odkaz:
https://doaj.org/article/db3578da0e7b45379158dc3931e941c0
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:
Stanisławska-Sachadyn A; Department of Biotechnology and Microbiology, Gdańsk University of Technology, 80-233, Gdańsk, Poland. anna.stanislawska@pg.edu.pl.; Department of Biology and Medical Genetics, Medical University of Gdańsk, 80-211, Gdańsk, Poland. anna.stanislawska@pg.edu.pl.; BioTechMed Center, Gdańsk University of Technology, Narutowicza 11/12, 80-233, Gdańsk, Poland. anna.stanislawska@pg.edu.pl., Krzemiński M; Institute of Applied Mathematics , Gdańsk University of Technology, 80-233, Gdańsk, Poland., Zielonka D; Department of Public Health, Poznań University of Medical Sciences, 60-812, Poznan, Poland., Krygier M; Department of Developmental Neurology, Medical University of Gdansk, 80-952, Gdańsk, Poland., Ziętkiewicz E; Institute of Human Genetics, Polish Academy of Sciences, 60-479, Poznan, Poland., Sławek J; Department of Neurology, St. Adalbert Hospital, Copernicus PL, 80-462,, Gdańsk, Poland.; Department of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdańsk, 80-211, Gdańsk, Poland., Limon J; Department of Medical Ethics, Medical University of Gdańsk, 80-211, Gdańsk, Poland.
Publikováno v:
Scientific reports [Sci Rep] 2024 Jul 08; Vol. 14 (1), pp. 15729. Date of Electronic Publication: 2024 Jul 08.
Autor:
Leire Valcárcel-Ocete, Asier Fullaondo, Gorka Alkorta-Aranburu, María García-Barcina, Raymund A C Roos, Lena E Hjermind, Carsten Saft, Marina Frontali, Ralf Reilmann, Hugh Rickards, REGISTRY investigators of the European Huntington’s Disease Network (EHDN), Ana M Zubiaga, Ana Aguirre
Publikováno v:
PLoS ONE, Vol 13, Iss 5, p e0197975 (2018)
Huntington's disease (HD) age of onset (AO) is mainly determined by the length of the CAG repeat expansion in the huntingtin gene. The remaining AO variability has been attributed to other little-known factors. A factor that has been associated with
Externí odkaz:
https://doaj.org/article/40cbccc9864f42288a97f889c37be2d2
Autor:
Alysha S Taylor, Dinis Barros, Nastassia Gobet, Thierry Schuepbach, Branduff McAllister, Lorene Aeschbach, Emma L Randall, Evgeniya Trofimenko, Eleanor R Heuchan, Paula Barszcz, Marc Ciosi, Joanne Morgan, Nathaniel J Hafford-Tear, Alice E Davidson, Thomas H Massey, Darren G Monckton, Lesley Jones, REGISTRY Investigators of the European Huntington’s disease network, Ioannis Xenarios, Vincent Dion
Publikováno v:
NAR genomics and bioinformatics, vol. 4, no. 4, pp. lqac089
Targeted DNA sequencing approaches will improve how the size of short tandem repeats is measured for diagnostic tests and preclinical studies. The expansion of these sequences causes dozens of disorders, with longer tracts generally leading to a more
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::467b8c6a7d2fd77701af241e15b9bce6
https://doi.org/10.1093/nargab/lqac089
https://doi.org/10.1093/nargab/lqac089
Autor:
Mühlbäck A; Department of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany. alzbeta.muehlbaeck@uni-ulm.de.; Huntington Center South, kbo-Isar-Amper-Klinikum, Taufkirchen, Germany. alzbeta.muehlbaeck@uni-ulm.de.; Department of Neurology and Center of Clinical Neuroscience, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czechia. alzbeta.muehlbaeck@uni-ulm.de., Mana J; Department of Neurology and Center of Clinical Neuroscience, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czechia., Wallner M; 2mt Software GmbH, Ulm, Germany., Frank W; Department of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany., Lindenberg KS; Department of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany., Hoffmann R; Huntington Center South, kbo-Isar-Amper-Klinikum, Taufkirchen, Germany., Klempířová O; Department of Neurology and Center of Clinical Neuroscience, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czechia., Klempíř J; Department of Neurology and Center of Clinical Neuroscience, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czechia., Landwehrmeyer GB; Department of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany., Bezdicek O; Department of Neurology and Center of Clinical Neuroscience, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czechia.
Publikováno v:
Journal of neurology [J Neurol] 2023 Oct; Vol. 270 (10), pp. 4903-4913. Date of Electronic Publication: 2023 Jun 22.
Autor:
Mcallister, B., Gusella, J. F., Landwehrmeyer, G. B., Lee, J. -M., Macdonald, M. E., Orth, M., Rosser, A. E., Williams, N. M., Holmans, P., Jones, L., Massey, T. H., the REGISTRY Investigators of the European Huntington’s Disease Network, Romano, S.
Publikováno v:
Neurology. 96:e2395-e2406
ObjectiveTo assess the prevalence, timing, and functional impact of psychiatric, cognitive, and motor abnormalities in Huntington disease (HD) gene carriers, we analyzed retrospective clinical data from individuals with manifest HD.MethodsClinical fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0449564f200474796bb3ec8aab83a20
https://doi.org/10.1212/wnl.0000000000011893
https://doi.org/10.1212/wnl.0000000000011893
Autor:
Lobanov, Sergey V., McAllister, Branduff, McDade-Kumar, Mia, Landwehrmeyer, G. Bernhard, Orth, Michael, Rosser, Anne E., REGISTRY Investigators of the European Huntington's disease network, Paulsen, Jane S., PREDICT-HD Investigators of the Huntington Study Group, Lee, Jong-Min, MacDonald, Marcy E., Gusella, James F., Long, Jeffrey D., Ryten, Mina, Williams, Nigel M., Holmans, Peter, Massey, Thomas H., Jones, Lesley
Publikováno v:
NPJ Genomic Medicine; 9/5/2022, Vol. 7 Issue 1, p1-9, 9p
Autor:
Leire Valcárcel-Ocete, Gorka Alkorta-Aranburu, Mikel Iriondo, Asier Fullaondo, María García-Barcina, José Manuel Fernández-García, Elena Lezcano-García, José María Losada-Domingo, Javier Ruiz-Ojeda, Amaia Álvarez de Arcaya, José María Pérez-Ramos, Raymund A C Roos, Jørgen E Nielsen, Carsten Saft, REGISTRY investigators of the European Huntington's Disease Network, Ana M Zubiaga, Ana Aguirre
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0131573 (2015)
Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although the mechanism by which it co
Externí odkaz:
https://doaj.org/article/c7ff862050a64eca938de23d82fc92fb
Autor:
Silke Metzger, Carolin Walter, Olaf Riess, Raymund A C Roos, Jørgen E Nielsen, David Craufurd, REGISTRY Investigators of the European Huntington’s Disease Network, Huu Phuc Nguyen
Publikováno v:
PLoS ONE, Vol 8, Iss 7, p e68951 (2013)
The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify t
Externí odkaz:
https://doaj.org/article/9713d43f9dc645bfbdf87cb9a5a9c8f3