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pro vyhledávání: '"spinocerebellar degenerations"'
Akademický článek
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Autor:
Ito, Kenji, Ohtsuka, Chigumi, Yoshioka, Kunihiro, Maeda, Tetsuya, Yokosawa, Suguru, Mori, Futoshi, Matsuda, Tsuyoshi, Terayama, Yasuo, Sasaki, Makoto
Publikováno v:
In Academic Radiology November 2019 26(11):e333-e339
Autor:
Kankou, Fongang Saint Pierre
Publikováno v:
In Journal of the Neurological Sciences December 2023 455 Supplement
Publikováno v:
Neuropathology : official journal of the Japanese Society of NeuropathologyREFERENCES. 42(5)
Spinocerebellar degenerations (SCDs) are a diverse group of rare and slowly progressive neurological diseases that include spinocerebellar ataxia type 1 (SCA1), SCA2, SCA3, SCA6, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and multiple system
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b6172cc99a3a220fc6b66e270e87d30
https://pubmed.ncbi.nlm.nih.gov/35859519
https://pubmed.ncbi.nlm.nih.gov/35859519
Autor:
Kenji Ito, Makoto Sasaki, Kunihiro Yoshioka, Futoshi Mori, Chigumi Ohtsuka, Tsuyoshi Matsuda, Yasuo Terayama, Tetsuya Maeda, Suguru Yokosawa
Publikováno v:
Academic Radiology. 26:e333-e339
Differentiation between multiple system atrophy (MSA) and other spinocerebellar degenerations showing cerebellar ataxia is often difficult. Hence, we investigated whether magnetic resonance diffusion kurtosis imaging (DKI) could detect pathological c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aea6f87530519347b897e2494948475
https://doi.org/10.1016/j.acra.2018.12.015
https://doi.org/10.1016/j.acra.2018.12.015
Autor:
Ashraf Yahia, Ahlam A. A. Hamed, Inaam N. Mohamed, Maha A. Elseed, Mustafa A. Salih, Sarah M. El-sadig, Hassab Elrasoul Siddig, Ali Elsir Musa Nasreldien, Mohamed Ahmed Abdullah, Maha Elzubair, Farouk Yassen Omer, Aisha Motwakil Bakhiet, Rayan Abubaker, Fatima Abozar, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Isra Z. M. Eltazi, Zulfa Omer, Hiba Malik, Mayada O. E. Mohamed, Ali A. Elhassan, Eman O. E. Mohamed, Ahmed K. M. A. Ahmed, Elhami A. A. Ahmed, Esraa Eltaraifee, Bidour K. Hussein, Amal S. I. Abd Allah, Lina Salah, Mohamed Nimir, Omnia M. Tag Elseed, Tasneem E. A. Elhassan, Abubakr Elbashier, Esraa S. A. Alfadul, Moneeb Fadul, Khalil F. Ali, Shaimaa Omer M. A. Taha, Elfatih E. Bushara, Mutaz Amin, Mahmoud Koko, Muntaser E. Ibrahim, Ammar E. Ahmed, Liena E. O. Elsayed, Giovanni Stevanin
Publikováno v:
European Journal of Human Genetics.
Hereditary spinocerebellar degenerations (SCDs) is an umbrella term that covers a group of monogenic conditions that share common pathogenic mechanisms and include hereditary spastic paraplegia (HSP), cerebellar ataxia, and spinocerebellar ataxia. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6065f2626112aa0df0ad52e9f622cc64
https://doi.org/10.1038/s41431-023-01344-6
https://doi.org/10.1038/s41431-023-01344-6
Autor:
Ryoji Goto, Koichiro Oba, Kyota Bando, Kyoko Todoroki, Junichiro Yoshida, Daisuke Nishida, Katsuhiro Mizuno, Hidehiro Mizusawa, Yuji Takahashi
Publikováno v:
Neuroscience Research, Vol 208, Iss , Pp 39-43 (2024)
We estimated the severity of cerebellar ataxia by analyzing gait rhythm. We measured the step times in patients with pure cerebellar ataxia and healthy controls and then analyzed the distribution of the ratios of adjacent times. Gait rhythm displayed
Externí odkaz:
https://doaj.org/article/732e0e45a6514c0d989c0a3383901a09
Autor:
Guillaume Baille, Nicolas Geoffre, Anna Wissocq, Pauline Planté-Bordeneuve, Eugénie Mutez, Vincent Huin
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-5 (2024)
Abstract Background Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases. The diagnosis of this disease requires genetic testing that may also include the sear
Externí odkaz:
https://doaj.org/article/70b4800c53da486cadb33a856be7d4e5