Zobrazeno 1 - 10
of 113
pro vyhledávání: '"Spinocerebellar ataxia (SCA)"'
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
IntroductionSpinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disorder characterized by cerebellar and retinal degeneration. SCA7 is caused by a CAG-polyglutamine repeat expansion in the ataxin-7 gene, which encodes a transcripti
Externí odkaz:
https://doaj.org/article/f717cd22ee1e4d8ba0d28ed41a51d2dc
Publikováno v:
Frontiers in Systems Neuroscience, Vol 18 (2024)
Externí odkaz:
https://doaj.org/article/2fc76342454a461897abadc4ea8d71f7
Autor:
Lin Chen, Yin Xu, Ming-juan Fang, Yong-guang Shi, Jie Zhang, Liang-liang Zhang, Yu Wang, Yong-zhu Han, Ji-yuan Hu, Ren-min Yang, Xu-en Yu
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare genetic prion disease caused by a mutation in the prion protein (PRNP) gene. It is typically characterized by progressive cerebellar ataxia and slowly progressive dementia. We present a case st
Externí odkaz:
https://doaj.org/article/1555b7b6dc994b57a9d660be871e0a3e
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
Spinocerebellar ataxias (SCAs) are a group of hereditary neurodegenerative diseases mostly affecting cerebellar Purkinje cells caused by a wide variety of different mutations. One subtype, SCA14, is caused by mutations of Protein Kinase C gamma (PKC
Externí odkaz:
https://doaj.org/article/b41dccbe96344fb7bca4944a894cf1fc
Publikováno v:
Frontiers in Systems Neuroscience, Vol 17 (2023)
The cerebellum plays a major role in balance, motor control and sensorimotor integration, but also in cognition, language, and emotional regulation. Several neuropsychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), autism sp
Externí odkaz:
https://doaj.org/article/cdcfeb2ecd694610893a30e77bf2f8ea
Autor:
Afsana Bhuiyan, Shuichi Asakawa
Publikováno v:
Frontiers in Bioengineering and Biotechnology, Vol 11 (2023)
Non-coding repeat expansion causes several neurodegenerative diseases, such as fragile X syndrome, amyotrophic lateral sclerosis/frontotemporal dementia, and spinocerebellar ataxia (SCA31). Such repetitive sequences must be investigated to understand
Externí odkaz:
https://doaj.org/article/5564c233eab04c1b8715024be7b2f076
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Among posttranslational modifications, directed proteolytic processes have the strongest impact on protein integrity. They are executed by a variety of cellular machineries and lead to a wide range of molecular consequences. Compared to other forms o
Externí odkaz:
https://doaj.org/article/d73f02fd395b4896a1b7ffd8fc9ceb68
Akademický článek
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Autor:
Smita Saxena, Sabine Liebscher
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
Externí odkaz:
https://doaj.org/article/42341f597d0c4405899b9069027c07e2
Autor:
Uebachs, Mischa, Wegner, Philipp, group, RISCA study, group, CRC-SCA study, group, SCA Registry study, Klockgether, Thomas, Faber, Jennifer, Schaaf, Sebastian, Kugai, Simon, Jacobi, Heike, Kuo, Sheng-Han, Ashizawa, Tetsuo, Fluck, Juliane, group, EUROSCA study, group, ESMI study
Publikováno v:
The Cerebellum Advance online publication, n/a (2023). doi:10.1007/s12311-023-01546-0
With SCAview, we present a prompt and comprehensive tool that enables scientists to browse large datasets of the most common spinocerebellar ataxias intuitively and without technical effort. Basic concept is a visualization of data, with a graphical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10678::2d89eded74112eb2a9b907938296714f
https://pub.dzne.de/record/258694
https://pub.dzne.de/record/258694
