JP23H02829/Japan Society for the Promotion of Science[Grants and Funding] - Search Results

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A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis.

Watanabe K, Bunai T, Sakamoto M, Ishigaki S, Iwakura T, Ohashi N, Wakatsuki R, Takenouchi A, Iwaizumi M, Hotta Y, Saida K, Koshimizu E, Miyatake S, Saitsu H, Matsumoto N, Nakamura T. Watanabe K, et al. J Neurol. 2024 Sep;271(9):6227-6237. doi: 10.1007/s00415-024-12593-w. Epub 2024 Jul 30. J Neurol. 2024. PMID: 39078482

FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients.

Matsushima M, Yaguchi H, Koshimizu E, Kudo A, Shirai S, Matsuoka T, Ura S, Kawashima A, Fukazawa T, Miyatake S, Matsumoto N, Yabe I. Matsushima M, et al. J Neurol. 2024 Jun;271(6):3643-3647. doi: 10.1007/s00415-024-12308-1. Epub 2024 Mar 12. J Neurol. 2024. PMID: 38472396 No abstract available.

A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant.

Ohashi T, Kunimoto H, Nukui J, Teshigawara H, Koyama S, Miyazaki T, Hagihara M, Matsumoto K, Koshimizu E, Tsuchida N, Hamanoue H, Miyatake S, Yachie A, Matsumoto N, Nakajima H. Ohashi T, et al. Int J Hematol. 2024 May;119(5):603-607. doi: 10.1007/s12185-024-03751-x. Epub 2024 Mar 15. Int J Hematol. 2024. PMID: 38489090

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