Zobrazeno 1 - 10
of 453
pro vyhledávání: '"FFI, fatal familial insomnia"'
Autor:
Mara Rigamonti, Roberto Chiesa, Ihssane Bouybayoune, Elena Restelli, Ilaria Bertani, Luca Porcu, Stefano Zordan, Antonio Masone, Giada Lavigna, Jacopo Lucchetti, Luca Imeri, Marco Gobbi
Publikováno v:
Neurobiology of Disease, Vol 158, Iss, Pp 105455-(2021)
Neurobiology of Disease
Neurobiology of Disease
Fatal familial insomnia (FFI) is a dominantly inherited prion disease linked to the D178N mutation in the gene encoding the prion protein (PrP). Symptoms, including insomnia, memory loss and motor abnormalities, appear around 50 years of age, leading
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::947f6abf69c24f0e3ded57cf103446a5
http://www.sciencedirect.com/science/article/pii/S0969996121002047
http://www.sciencedirect.com/science/article/pii/S0969996121002047
Autor:
Elena Quaglio, Vanessa Capone, Vladimiro Artuso, Fabio Fiordaliso, Ignazio Roiter, Davide Ortolan, Michele Sallese, Alessandro Corbelli, Galina V. Beznoussenko, Elena Restelli, Manuela Pozzoli, Roberto Chiesa
Publikováno v:
The Journal of Biological Chemistry
Fatal familial insomnia (FFI), genetic Creutzfeldt–Jakob disease (gCJD), and Gerstmann–Sträussler–Scheinker (GSS) syndrome are neurodegenerative disorders linked to prion protein (PrP) mutations. The pathogenic mechanisms are not known, but in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d3782460cda7c20d4fd5164939fecf2
https://doi.org/10.1016/j.jbc.2021.100490
https://doi.org/10.1016/j.jbc.2021.100490
Autor:
Verheijen, Bert M.1 (AUTHOR) lambertus_verheijen@hms.harvard.edu, Vermulst, Marc2 (AUTHOR) lambertus_verheijen@hms.harvard.edu
Publikováno v:
International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 21, p11429. 13p.
Autor:
Federico Benetti, Giuseppe Legname
Publikováno v:
Prion
Prions are the etiological agent of fatal neurodegenerative diseases called prion diseases or transmissible spongiform encephalopathies. These maladies can be sporadic, genetic or infectious disorders. Prions are due to post-translational modificatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c1f5635db9106ba6cd5d60202f9b27b
https://pubmed.ncbi.nlm.nih.gov/25746597
https://pubmed.ncbi.nlm.nih.gov/25746597
Autor:
Cuadrado-Corrales, Natividad1 (AUTHOR) mariancu@ucm.es, Lopez-de-Andres, Ana1 (AUTHOR) anailo04@ucm.es, Hernández-Barrera, Valentín2 (AUTHOR) valentin.hernandez@urjc.es, De-Miguel-Díez, Javier3 (AUTHOR) javier.miguel@salud.madrid.org, Jimenez-Sierra, Ana4 (AUTHOR) a.jimenez100@usp.ceu.es, Carabantes-Alarcon, David1 (AUTHOR) josejzam@ucm.es, Zamorano-Leon, Jose J.1 (AUTHOR) rodrijim@ucm.es, Jimenez-Garcia, Rodrigo1 (AUTHOR)
Publikováno v:
Journal of Clinical Medicine. Aug2024, Vol. 13 Issue 15, p4401. 14p.
Kniha
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Autor:
Wu, Yue-Zhang, Gao, Li-Ping, Chen, Dong-Dong, Liang, Dong-Lin, Chen, Jia, Xiao, Kang, Hu, Chao, Chen, Cao, Shi, Qi, Dong, Xiao-Ping
Publikováno v:
In Neurobiology of Aging November 2023 131:156-169
Akademický článek
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Autor:
Thüne, Katrin1,2 (AUTHOR) k.thuene@googlemail.com, Schmitz, Matthias1,2 (AUTHOR) matthias.schmitz@med.uni-goettingen.de, Wiedenhöft, John3 (AUTHOR) john.wiedenhoeft@med.uni-goettingen.de, Shomroni, Orr4 (AUTHOR) orr.shomroni@med.uni-goettingen.de, Göbel, Stefan1 (AUTHOR) timothy.bunck@med.uni-goettingen.de, Bunck, Timothy1 (AUTHOR) neelam.younas@med.uni-goettingen.de, Younas, Neelam1 (AUTHOR) saima.zafar@med.uni-goettingen.de, Zafar, Saima1 (AUTHOR) peter.hermann@med.uni-goettingen.de, Hermann, Peter1 (AUTHOR) ingazerr@med.uni-goettingen.de, Zerr, Inga1,2 (AUTHOR)
Publikováno v:
Cells (2073-4409). Aug2023, Vol. 12 Issue 16, p2053. 11p.
Autor:
Jing Zhang, Min Chu, ZiChen Tian, KeXin Xie, Yue Cui, Li Liu, JiaLi Meng, HaiHan Yan, Yang-Mingyue Ji, Zhuyi Jiang, Tian-Xinyu Xia, Dongxin Wang, Xin Wan, Ye Zhao, Hong Ye, Junjie Li, Lin Wang, Liyong Wu, Zhang, Jing, Chu, Min
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry; Mar2022, Vol. 93 Issue 3, p291-297, 7p