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Ubap1 knock-in mice reproduced the phenotype of SPG80.
Shimozono K, Nan H, Hata T, Saito K, Kim YJ, Nagatomo H, Ohtsuka T, Koizumi S, Takiyama Y. Shimozono K, et al. Among authors: takiyama y. J Hum Genet. 2022 Dec;67(12):679-686. doi: 10.1038/s10038-022-01073-6. Epub 2022 Aug 12. J Hum Genet. 2022. PMID: 35962060 Free PMC article.
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S, Koike R, Hiroi T, Yuasa T, Awaya Y, Sakai T, Takahashi T, Nagatomo H, Sekijima Y, Kawachi I, Takiyama Y, Nishizawa M, Fukuhara N, Saito K, Sugano S, Tsuji S. Date H, et al. Among authors: takiyama y. Nat Genet. 2001 Oct;29(2):184-8. doi: 10.1038/ng1001-184. Nat Genet. 2001. PMID: 11586299
Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.
Koh K, Kobayashi F, Miwa M, Shindo K, Isozaki E, Ishiura H, Tsuji S, Takiyama Y. Koh K, et al. Among authors: takiyama y. J Hum Genet. 2015 Apr;60(4):217-20. doi: 10.1038/jhg.2015.3. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631098
Opsoclonus-myoclonus syndrome associated with multiple system atrophy.
Shindo K, Onohara A, Hata T, Kobayashi F, Nagasaka K, Nagasaka T, Takiyama Y. Shindo K, et al. Among authors: takiyama y. Cerebellum Ataxias. 2014 Nov 1;1:15. doi: 10.1186/s40673-014-0015-6. eCollection 2014. Cerebellum Ataxias. 2014. PMID: 26331039 Free PMC article.
Camptocormia as an onset symptom of myasthenia gravis.
Sato T, Natori T, Hata T, Yamashiro N, Shindo K, Takiyama Y. Sato T, et al. Among authors: takiyama y. Neurol Sci. 2017 Mar;38(3):515-516. doi: 10.1007/s10072-016-2752-1. Epub 2016 Nov 3. Neurol Sci. 2017. PMID: 27812759 No abstract available.
Vasomotor regulation in patients with multiple system atrophy.
Shindo K, Tsuchiya M, Ichinose Y, Koh K, Hata T, Yamashiro N, Kobayashi F, Nagasaka T, Takiyama Y. Shindo K, et al. Among authors: takiyama y. J Neural Transm (Vienna). 2017 Apr;124(4):477-481. doi: 10.1007/s00702-016-1644-0. Epub 2016 Nov 8. J Neural Transm (Vienna). 2017. PMID: 27826809
247 results