Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Genetic Creutzfeldt-Jakob disease"'
Autor:
Noa Bregman, Tamara Shiner, Gitit Kavé, Roy Alcalay, Mali Gana-Weisz, Orly Goldstein, Tal Glinka, Orna Aizenstein, Dafna Ben Bashat, Yifat Alcalay, Anat Mirelman, Avner Thaler, Nir Giladi, Nurit Omer
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-11 (2023)
Abstract Background Creutzfeldt-Jakob Disease (CJD) is the most common prion disease in humans causing a rapidly progressive neurological decline and dementia and is invariably fatal. The familial forms (genetic CJD, gCJD) are caused by mutations in
Externí odkaz:
https://doaj.org/article/ba96f32651c941c3803b22eb71035d6d
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Human prion diseases are rapidly progressive and fatal neurodegenerative conditions caused by a disease-causing isoform of the native prion protein. The prion protein gene (PRNP) encodes for the cellular prion protein, which is the biological substra
Externí odkaz:
https://doaj.org/article/44f5d1173322450ba374171242e3e64b
Autor:
Xue Lin, Yichen Xu, Zhen Zhen, Kang Xiao, Xu Chen, Jigang Yang, Hongzhi Guan, Qi Shi, Xiaoping Dong, Jiawei Wang, Yanjun Guo
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Genetic Creutzfeldt–Jakob disease (gCJD) characterized by mutations in the prion protein (PrP) gene (PRNP) contributes to approximately 10–15% of the overall human prion diseases. Here, we report a rare mutation in the PRNP gene in a Han-Chinese
Externí odkaz:
https://doaj.org/article/5ffbabd5119848ff8fefdc625824acd9
Autor:
Dorina Tiple, Anna Poleggi, Vittorio Mellina, Antonino Morocutti, Livia Brusa, Cesare Iani, Elisa Colaizzo, Luana Vaianella, Simone Baiardi, Anna Ladogana, Piero Parchi, Maurizio Pocchiari
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-4 (2019)
Externí odkaz:
https://doaj.org/article/5860a317bc2a45b3887bb8ac70eee5b7
Autor:
Nicholas Brennecke, Ignazio Cali, Tze How Mok, Helen Speedy, Genomics England Research Consortium, Laszlo L. P. Hosszu, Christiane Stehmann, Laura Cracco, Gianfranco Puoti, Thomas W. Prior, Mark L. Cohen, Steven J. Collins, Simon Mead, Brian S. Appleby
Publikováno v:
Viruses, Vol 13, Iss 9, p 1794 (2021)
Genetic prion disease accounts for 10–15% of prion disease. While insertion of four or more octapeptide repeats are clearly pathogenic, smaller repeat insertions have an unclear pathogenicity. The goal of this case series was to provide an insight
Externí odkaz:
https://doaj.org/article/c04a6d71b61f49a99831430bef4d4116
Akademický článek
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Autor:
Ryoji Naganuma, Masaaki Matsushima, Tetsuyuki Kitamoto, Katsuya Satoh, Ichiro Yabe, Taichi Nomura, Ikuko Iwata
Publikováno v:
Prion
article-version (VoR) Version of Record
article-version (VoR) Version of Record
Genetic Creutzfeldt-Jakob disease (gCJD) with a mutation in codon 180 of the prion protein gene (V180I gCJD) is the most common form of gCJD in Japan, but only a few cases have been reported in Europe and the United States. It is clinically character
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::391adafb6f18405472c9625904049a51
http://europepmc.org/articles/PMC7518757
http://europepmc.org/articles/PMC7518757
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Brennecke, Nicholas, Cali, Ignazio, Mok, Tze, Speedy, Helen, Consortium, Genomics England Research, Hosszu, Laszlo, Stehmann, Christiane, Cracco, Laura, Puoti, Gianfranco, Prior, Thomas, Cohen, Mark, Collins, Steven, Mead, Simon, Appleby, Brian
Publikováno v:
Viruses
Volume 13
Issue 9
Viruses, Vol 13, Iss 1794, p 1794 (2021)
Volume 13
Issue 9
Viruses, Vol 13, Iss 1794, p 1794 (2021)
Genetic prion disease accounts for 10–15% of prion disease. While insertion of four or more octapeptide repeats are clearly pathogenic, smaller repeat insertions have an unclear pathogenicity. The goal of this case series was to provide an insight
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cb14b8abf1f9020d0d5f89a986fb700
Autor:
Kenjiro Kunieda, Masahiro Waza, Tomonori Yaguchi, Ichiro Fujishima, Takayoshi Shimohata, Megumi Yamada, Yuichi Hayashi
Publikováno v:
Prion
article-version (VoR) Version of Record
article-version (VoR) Version of Record
Swallowing function in long-term survivors with Creutzfeldt-Jakob disease (CJD) remains unknown. Herein, we demonstrated serial evaluation of swallowing function in a case with V180I genetic CJD (gCJD) using videofluoroscopic examination of swallowin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9b20eba25230d264b9058f58c42a579
https://doi.org/10.1080/19336896.2020.1787090
https://doi.org/10.1080/19336896.2020.1787090