Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Eleanna, Kara"'
Autor:
Strachan Mackenzie, Manar Shafat, Harriet Roddy, Harpreet Hyare, Lorna Neill, Maria A. V. Marzolini, Michael Gilhooley, Teresa Marafioti, Eleanna Kara, Emilie Sanchez, Jeremy Rees, David S. Lynch, Kirsty Thomson, Kirit M. Ardeshna, Arian Laurence, Karl S. Peggs, Maeve O'Reilly, Claire Roddie
Publikováno v:
eJHaem, Vol 2, Iss 4, Pp 848-853 (2021)
Abstract Progressive multifocal leukoencephalopathy (PML) is an opportunistic brain infection with few treatment options and poor survival when reversal of the underlying immune dysfunction is not achievable. JC polyomavirus reactivation resulting in
Externí odkaz:
https://doaj.org/article/c0d674bf81494667b74ab208dbb6c5eb
Autor:
Raquel Larramona-Arcas, Candela González-Arias, Gertrudis Perea, Antonia Gutiérrez, Javier Vitorica, Tamara García-Barrera, José Luis Gómez-Ariza, Raquel Pascua-Maestro, María Dolores Ganfornina, Eleanna Kara, Eloise Hudry, Marta Martinez-Vicente, Miquel Vila, Elena Galea, Roser Masgrau
Publikováno v:
Molecular Neurodegeneration, Vol 15, Iss 1, Pp 1-23 (2020)
Abstract Background The apolipoprotein E (APOE) gene exists in three isoforms in humans: APOE2, APOE3 and APOE4. APOE4 causes structural and functional alterations in normal brains, and is the strongest genetic risk factor of the sporadic form of Alz
Externí odkaz:
https://doaj.org/article/d54845f1ed0141cba4bad31da880a522
Autor:
Nikoleta Vavouraki, James E. Tomkins, Eleanna Kara, Henry Houlden, John Hardy, Marcus J. Tindall, Patrick A. Lewis, Claudia Manzoni
Publikováno v:
iScience, Vol 24, Iss 5, Pp 102484- (2021)
Summary: The Hereditary Spastic Paraplegias are a group of neurodegenerative diseases characterized by spasticity and weakness in the lower body. Owing to the combination of genetic diversity and variable clinical presentation, the Hereditary Spastic
Externí odkaz:
https://doaj.org/article/28e4847168b144048b55401487676d3f
Autor:
Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-16 (2016)
Karin Tuschl, Philippa Mills and colleagues report mutations in the manganese (Mn) transporter gene SLC39A14in childhood-onset parkinsonism-dystonia. Using functional recapitulation, the authors also show that slc39A14 loss-of-function in zebrafish c
Externí odkaz:
https://doaj.org/article/122cc65e3ed24026b35cd38223a5fe6b
Autor:
Kali G. Makedou, M.D., PhD., Stavros Iliadis, Maria Gogou, M.D., Eleanna Kara, M.D., Georgios Papageorgiou
Publikováno v:
Hellenic Journal of Cardiology, Vol 58, Iss 2, Pp 153-155 (2017)
Externí odkaz:
https://doaj.org/article/3136010363e443e4b8b6fa464bd2c77f
Autor:
Claire Roddie, Arian Laurence, Emilie Sanchez, Karl S. Peggs, Harriet Roddy, Maeve A O'Reilly, David S. Lynch, Maria A. V. Marzolini, Teresa Marafioti, Kirit M. Ardeshna, Harpreet Hyare, Jeremy Rees, Eleanna Kara, Lorna Neill, Kirsty Thomson, Manar S. Shafat, Michael James Gilhooley, Strachan Mackenzie
Publikováno v:
eJHaem. 2:848-853
Autor:
Masato Maesako, Jana Horlacher, Katarzyna M Zoltowska, Ksenia V Kastanenka, Eleanna Kara, Sarah Svirsky, Laura J Keller, Xuejing Li, Bradley T Hyman, Brian J Bacskai, Oksana Berezovska
Publikováno v:
eLife, Vol 6 (2017)
The high levels of serine (S) and threonine (T) residues within the Presenilin 1 (PS1) N-terminus and in the large hydrophilic loop region suggest that the enzymatic function of PS1/γ-secretase can be modulated by its ‘phosphorylated’ and ‘dep
Externí odkaz:
https://doaj.org/article/c7a97664d2b94297b5a3d16d9ec32dbe
Publikováno v:
Best Practice & Research Clinical Rheumatology. 36:101763
The appropriate analysis of skeletal muscle tissues is a key element in many diagnostic procedures and can deliver valuable information about the organ that is affected. Although arguably the frequency of muscle biopsy may be declining in certain dom
Publikováno v:
Cell Reports
Autor:
Cornelis Blauwendraat, John Hardy, Alessandro Crimi, Regina H. Reynolds, Mina Ryten, Dezirae Schneider, Sara Bandres-Ciga, Eleanna Kara, Daniel Heinzer, Alexandre Theocharides, Claudia Manzoni, Juan A. Botía, Marco Losa, Jordan D. Marks, Veronika Lysenko, Patrick A. Lewis, Merve Avar, Bradley T. Hyman, Sarah C. Hopp, Daniel Patrick Pease, Zhanyun Fan, Alessandra Carrella, Anne Wiedmer, Marc Emmenegger, Karishma D’Sa, Andra Chincisan, Andreia D. Magalhães, Lorene Mottier, Adriano Aguzzi, Manfredi Carta, Caroline Aemisegger, Sonia Garcia Ruiz
SummaryNeuropathological and experimental evidence suggests that the cell-to-cell transfer of a-synuclein has an important role in the pathogenesis of Parkinson’s disease (PD). However, the mechanism underlying this phenomenon is not fully understo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4071e59018abf3fcdf39a305b58151
https://doi.org/10.1101/2019.12.23.886838
https://doi.org/10.1101/2019.12.23.886838