Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Georg Bernhard Landwehrmeyer"'
Autor:
Carsten Saft, Jean-Marc Burgunder, Matthias Dose, Hans Heinrich Jung, Regina Katzenschlager, Josef Priller, Huu Phuc Nguyen, Kathrin Reetz, Ralf Reilmann, Klaus Seppi, Georg Bernhard Landwehrmeyer
Publikováno v:
Neurological Research and Practice, Vol 5, Iss 1, Pp 1-11 (2023)
Abstract Introduction Choreiform movement disorders are characterized by involuntary, rapid, irregular, and unpredictable movements of the limbs, face, neck, and trunk. These movements often initially go unnoticed by the affected individuals and may
Externí odkaz:
https://doaj.org/article/d590a3c651f34c46a0ea9583802bc1bd
Autor:
Carsten Saft, Jean-Marc Burgunder, Matthias Dose, Hans Heinrich Jung, Regina Katzenschlager, Josef Priller, Huu Phuc Nguyen, Kathrin Reetz, Ralf Reilmann, Klaus Seppi, Georg Bernhard Landwehrmeyer
Publikováno v:
Neurological Research and Practice, Vol 5, Iss 1, Pp 1-10 (2023)
Abstract Introduction Ameliorating symptoms and signs of Huntington’s disease (HD) is essential to care but can be challenging and hard to achieve. The pharmacological treatment of motor signs (e.g. chorea) may favorably or unfavorably impact other
Externí odkaz:
https://doaj.org/article/82e711d767b446e48816d7f63ace04bb
Autor:
Marta Piechota, Ewelina Latoszek, Ewa Liszewska, Hana Hansíková, Jiří Klempíř, Alžbeta Mühlbäck, Georg Bernhard Landwehrmeyer, Jacek Kuźnicki, Magdalena Czeredys
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103194- (2023)
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a mutation in the HTT gene. To generate human-induced pluripotent stem cells (hiPSCs), we used dermal fibroblasts from 1 healthy adult control (K-Pic2), 1 HD manif
Externí odkaz:
https://doaj.org/article/cbb1bddf40124d8493501e9f6a37a6d9
Autor:
Ewelina Latoszek, Marta Piechota, Ewa Liszewska, Hana Hansíková, Jiří Klempíř, Alžbeta Mühlbäck, Georg Bernhard Landwehrmeyer, Jacek Kuznicki, Magdalena Czeredys
Publikováno v:
Stem Cell Research, Vol 64, Iss , Pp 102931- (2022)
Huntington’s disease (HD) is a progressive neurodegenerative disorder with autosomal-dominant heritability that affect the central nervous system and peripheral tissues. The human-induced pluripotent stem cells (hiPSC) lines were generated from der
Externí odkaz:
https://doaj.org/article/604202ee45244d36a7a3b52a22796d26
Autor:
Peggy Barschke, Samir Abu-Rumeileh, M. H. D. Rami Al Shweiki, Lorenzo Barba, Federico Paolini Paoletti, Patrick Oeckl, Petra Steinacker, Steffen Halbgebauer, Lorenzo Gaetani, Jan Lewerenz, Albert Christian Ludolph, Georg Bernhard Landwehrmeyer, Lucilla Parnetti, Markus Otto
Publikováno v:
Journal of neurology 269(9), 5136-5143 (2022). doi:10.1007/s00415-022-11187-8
Background Proenkephalin (PENK) and prodynorphin (PDYN) are peptides mainly produced by the striatal medium spiny projection neurons (MSNs) under dopaminergic signaling. Therefore, they may represent candidate biomarkers in Huntington’s disease (HD
Autor:
Carsten Saft, Josef Priller, Katrin S. Lindenberg, Georg Bernhard Landwehrmeyer, Alzbeta Mühlbäck
Publikováno v:
Der Nervenarzt. 91:303-311
ZusammenfassungIn Deutschland leiden derzeit mindestens 8000, vermutlich aber sogar bis zu ca. 14.000 Menschen an einer klinisch apparenten („manifesten“) Huntington-Krankheit (HK). Zudem tragen schätzungsweise 24.000 Deutsche die der HK zugrund
Autor:
Julianna Y. Lee, Tom Massey, Jane S. Paulsen, Elizabeth Aylward, JN D Stone, Nigel Williams, Darren G. Monckton, Jasmine Donaldson, Georg Bernhard Landwehrmeyer, Peter Holmans, Lyn Elliston, Chughtai U, Anne Elizabeth Rosser, Branduff McAllister, Lesley Jones, Georgina E. Menzies, Schuhmacher L, S. V. Lobanov, Sophie Powell, Michael J. Chao, Binda Cs, Wheeler, Marc Ciosi, Alastair Maxwell, Marcy E. MacDonald, J. F. Gusella, Diane Lucente, Edwards G, Nicholas D. Allen, Jeffrey D. Long, E. Rees, Eun Pyo Hong
SummaryThe age at onset of motor symptoms in Huntington’s disease (HD) is driven by HTT CAG repeat length but modified by other genes. We used exome sequencing of 683 HD patients with extremes of onset or phenotype relative to CAG length to identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::186d09a6104703c0de6b1a80e06b7c7c
https://doi.org/10.1101/2021.04.13.439716
https://doi.org/10.1101/2021.04.13.439716
Autor:
Markus Otto, Sarah Anderl-Straub, Georg Bernhard Landwehrmeyer, Peggy Barschke, Adrian Pachollek, Steffen Halbgebauer, Petra Steinacker, Patrick Oeckl, Mhd Rami Al Shweiki, Albert C. Ludolph, Jan Lewerenz
Publikováno v:
Movement disorders 36(2), 492-497 (2021). doi:10.1002/mds.28300
RESULTS Huntington's disease (HD) is a devastating neurodegenerative disorder characterized by a selective loss of striatal medium spiny projection neurons (MSNs). Prodynorphin (PDYN) is enriched in a subpopulation of striatal MSNs. Postmortem brains
Publikováno v:
Neurology / Genetics 7(4), e603-(2021). doi:10.1212/NXG.0000000000000603
ObjectiveWeight loss is associated with clinical progression in Huntington disease (HD), but whether body weight causally affects disease onset or progression is unknown. Therefore, we aimed to assess whether genetically determined variations in body
Autor:
Diane Lucente, Douglas Barker, Michael J. Chao, Branduff McAllister, Georg Bernhard Landwehrmeyer, Abu Elneel K, Lynsey S. Hall, Jean-Paul Vonsattel, Jacob M. Loupe, Anka G Ehrhardt, J.S. Paulsen, Richard H. Myers, Vanessa C. Wheeler, Christopher W Medway, Jayalakshmi S. Mysore, Alastair Maxwell, Ira Shoulson, Tammy Gillis, Seung Kwak, Michael Orth, Peter Holmans, Timothy Stone, Lesley Jones, Eliana Marisa Ramos, J. F. Gusella, Cristina Sampaio, Eun Pyo Hong, Julianna Y. Lee, Dorsey Er, Mouro Pinto R, Kyuseok Kim, Kevin Correia, Jeffrey D. Long, Afroditi Chatzi, Tom Massey, Marcy E. MacDonald, Darren G. Monckton, Marc Ciosi
SUMMARYThe effects of variable, glutamine-encoding, CAA interruptions indicate that a property of the uninterrupted HTT CAG repeat sequence, distinct from huntingtin’s polyglutamine segment, dictates the rate at which HD develops. The timing of ons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4a7aedebdf3a8a96b517070682019f9
https://doi.org/10.1101/529768
https://doi.org/10.1101/529768