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Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy.
Doki T, Yamashita S, Wei FY, Hara K, Yamamoto T, Zhang Z, Zhang X, Tawara N, Hino H, Uyama E, Kurashige T, Maruyama H, Tomizawa K, Ando Y. Doki T, et al. Among authors: maruyama h. Lab Invest. 2019 Nov;99(11):1728-1740. doi: 10.1038/s41374-019-0243-8. Epub 2019 Mar 20. Lab Invest. 2019. PMID: 30894671 Free article.
Muscle-dominant wild-type TDP-43 expression induces myopathological changes featuring tubular aggregates and TDP-43-positive inclusions.
Tawara N, Yamashita S, Kawakami K, Kurashige T, Zhang Z, Tasaki M, Yamamoto Y, Nishikami T, Doki T, Zhang X, Matsuo Y, Kimura E, Tawara A, Maeda Y, Hauschka SD, Maruyama H, Ando Y. Tawara N, et al. Among authors: maruyama h. Exp Neurol. 2018 Nov;309:169-180. doi: 10.1016/j.expneurol.2018.08.006. Epub 2018 Aug 18. Exp Neurol. 2018. PMID: 30130494
A mutant MATR3 mouse model to explain multisystem proteinopathy.
Zhang X, Yamashita S, Hara K, Doki T, Tawara N, Ikeda T, Misumi Y, Zhang Z, Matsuo Y, Nagai M, Kurashige T, Maruyama H, Ando Y. Zhang X, et al. Among authors: maruyama h. J Pathol. 2019 Oct;249(2):182-192. doi: 10.1002/path.5289. Epub 2019 Jun 18. J Pathol. 2019. PMID: 31056746
Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation.
Kurashige T, Morino H, Matsuda Y, Mukai T, Murao T, Toko M, Kume K, Ohsawa R, Torii T, Tokinobu H, Maruyama H, Kawakami H. Kurashige T, et al. Among authors: maruyama h. J Neurol Neurosurg Psychiatry. 2020 Feb;91(2):220-222. doi: 10.1136/jnnp-2019-321279. Epub 2019 Aug 20. J Neurol Neurosurg Psychiatry. 2020. PMID: 31431468 No abstract available.
Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia.
Matsuda Y, Morino H, Miyamoto R, Kurashige T, Kume K, Mizuno N, Kanaya Y, Tada Y, Ohsawa R, Yokota K, Shimozawa N, Maruyama H, Kawakami H. Matsuda Y, et al. Among authors: maruyama h. Neurol Genet. 2020 Jan 16;6(1):e396. doi: 10.1212/NXG.0000000000000396. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042923 Free PMC article.
1,965 results