Zobrazeno 1 - 10
of 540
pro vyhledávání: '"Autosomal dominant cerebellar ataxia"'
Autor:
Kai-Chieh Chang, Yih-Chih Kuo, Hsueh-Wen Hsueh, Ni-Chung Lee, Chih-Chao Yang, Sung-Tsang Hsieh, Chi-Chao Chao
Publikováno v:
eNeurologicalSci, Vol 21, Iss , Pp 100271- (2020)
Externí odkaz:
https://doaj.org/article/c07ec7807f164f4fad81eb78ab0b1d86
Autor:
Hiroyuki Ishiura, Jun Mitsui, Makoto Aihara, Takashi Miyai, Satoru Yamagami, Suguru Nakagawa, Koji Kakisu, Tatsushi Toda, Yumi Hashimoto, Tetsuya Toyono, Yuichi Hori, Tomohiko Usui, Junko Yoshida, Takashi Matsukawa
Publikováno v:
SN Comprehensive Clinical Medicine. 3:2029-2032
Dentatorubropallidoluysian atrophy (DRPLA) is an autosomal dominant cerebellar ataxia with various signs and symptoms, including progressive ataxia, choreoathetosis, dementia, myoclonus, psychiatric problems, and seizures. Corneal endothelial degener
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64ecf3c951dfaac88bf52e12feaa5f7e
https://doi.org/10.1007/s42399-021-00962-9
https://doi.org/10.1007/s42399-021-00962-9
Autor:
Shoji Tsuji, Tatsuo Mano, Toshihiro Hayashi, Hiroyuki Ishiura, Shotaro Karino, Yaeko Ichikawa, Yu Nagashima, Jun Goto, Yuji Takahashi, Takashi Matsukawa, Takashi Kanbayashi, Jun Shimizu, Jun Ichi Kira, Junko Kanda Kikuchi
Publikováno v:
Journal of Molecular Neuroscience. 71:1796-1801
The phenotypes of patients with disease-associated variants in DNMT1 have been classified into two syndromes: hereditary sensory and autonomic neuropathy type 1E (HSAN1E, MIM614116, https://www.omim.org/ ) and autosomal dominant cerebellar ataxia, de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e58f02440e7f80069f06e01e5f471bb5
https://doi.org/10.1007/s12031-020-01784-5
https://doi.org/10.1007/s12031-020-01784-5
Publikováno v:
Annals of Indian Academy of Neurology, Vol 16, Iss 3, Pp 295-303 (2013)
The dominantly inherited ataxias, also known as Spino-cerebellar ataxias (SCAs), are rapidly expanding entities. New mutations are being identified at remarkable regularity. Recent awareness of molecular abnormalities in SCAs has addressed some of th
Externí odkaz:
https://doaj.org/article/54463671cf3541dd8a3308f9bd828be1
Autor:
Gurusidheshwar M Wali
Publikováno v:
Annals of Indian Academy of Neurology, Vol 16, Iss 4, Pp 708-711 (2013)
Spinocerebellar ataxia type 7 (SCA7) is a form of autosomal dominant cerebellar ataxia which is associated with pigmentary retinal degeneration. It is known for its world-wide rarity except in the Scandinavian countries. It is very rarely reported fr
Externí odkaz:
https://doaj.org/article/13a7ad14ae5a4b21832948c4ab542a3f
Publikováno v:
Parkinsonism & Related Disorders. 89:87-89
Background Spinocerebellar ataxia 17 (SCA17) is among the most heterogeneous forms of autosomal dominant cerebellar ataxia; it is caused by triplet repeat expansions within the TATA box-binding protein (TBP) gene. Its features include ataxia, dementi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4abf69ad1c9991ec3fc999a7de2802e8
https://doi.org/10.1016/j.parkreldis.2021.06.021
https://doi.org/10.1016/j.parkreldis.2021.06.021
Autor:
Petya Bogdanova-Mihaylova, David Vaughan, Brian Sweeney, Daniel J. Costello, Sinéad M. Murphy, Brian McNamara, Richard A. Walsh
Publikováno v:
Journal of the Peripheral Nervous System. 25:433-437
Ataxia pancytopenia (ATXPC) syndrome due to gain-of-function pathogenic variants in the SAMD9L gene has been described in 38 patients to date. It is characterized by variable neurological and hematological phenotypes including ataxia, pyramidal signs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cefdfbda0d2e33969f13e28e15db931e
https://doi.org/10.1111/jns.12409
https://doi.org/10.1111/jns.12409
Autor:
Shunichi Satoh, Tomomi Yamaguchi, Katsuya Nakamura, Shinji Ohara, Kunihiro Yoshida, Yasufumi Kondo
Publikováno v:
Cerebellum & Ataxias, Vol 7, Iss 1, Pp 1-6 (2020)
Cerebellum & Ataxias
Cerebellum & Ataxias
Background Spinocerebellar ataxia type 23 (SCA23) is an autosomal dominant cerebellar ataxia caused by pathogenic variants in the prodynorphin gene (PDYN). The frequency of PDYN variants is reportedly very low (~ 0.1%) in several ataxia cohorts scree
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718ccda87e2f6de3f33cfbb48e699ecb
http://link.springer.com/article/10.1186/s40673-020-00117-x
http://link.springer.com/article/10.1186/s40673-020-00117-x
Autor:
Eva Haas, Olaf Riess, Athar H. Chishti, Yacine Maringer, Stefan Hauser, Jonasz J. Weber, Jeannette Hübener-Schmid, Nicolas Casadei
Publikováno v:
Hum Mol Genet
Human molecular genetics 29(6), 892-906 (2020). doi:10.1093/hmg/ddaa010
Human molecular genetics 29(6), 892-906 (2020). doi:10.1093/hmg/ddaa010
Proteolytic fragmentation of polyglutamine-expanded ataxin-3 is a concomitant and modifier of the molecular pathogenesis of Machado–Joseph disease (MJD), the most common autosomal dominant cerebellar ataxia. Calpains, a group of calcium-dependent c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9bc3418f7a9675f288b55130bf1c68a
https://doi.org/10.1093/hmg/ddaa010
https://doi.org/10.1093/hmg/ddaa010
Autor:
Ni-Chung Lee, Yih-Chih Kuo, Chi-Chao Chao, Hsueh-Wen Hsueh, Sung-Tsang Hsieh, Chih-Chao Yang, Kai-Chieh Chang
Publikováno v:
eNeurologicalSci, Vol 21, Iss, Pp 100271-(2020)
eNeurologicalSci
eNeurologicalSci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46535e95f02f0391a8554b600cb94656
http://www.sciencedirect.com/science/article/pii/S2405650220300502
http://www.sciencedirect.com/science/article/pii/S2405650220300502