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Page 1
The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.
Yagi S, Miyamoto R, Tasaki M, Morino H, Otani R, Kadota M, Ise T, Yamazaki H, Kusunose K, Yamaguchi K, Yamada H, Soeki T, Wakatsuki T, Fukuda D, Ueda M, Sata M. Yagi S, et al. Among authors: morino h. Hum Genome Var. 2024 Aug 16;11(1):30. doi: 10.1038/s41439-024-00288-7. Hum Genome Var. 2024. PMID: 39152105 Free PMC article.
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.
Miyatake S, Doi H, Yaguchi H, Koshimizu E, Kihara N, Matsubara T, Mori Y, Kunieda K, Shimizu Y, Toyota T, Shirai S, Matsushima M, Okubo M, Wada T, Kunii M, Johkura K, Miyamoto R, Osaki Y, Miyama T, Satoh M, Fujita A, Uchiyama Y, Tsuchida N, Misawa K, Hamanaka K, Hamanoue H, Mizuguchi T, Morino H, Izumi Y, Shimohata T, Yoshida K, Adachi H, Tanaka F, Yabe I, Matsumoto N. Miyatake S, et al. Among authors: morino h. J Neurol Neurosurg Psychiatry. 2024 Nov 18;95(12):1187-1195. doi: 10.1136/jnnp-2024-333541. J Neurol Neurosurg Psychiatry. 2024. PMID: 38816190
An autopsy case of type A FTLD-TDP with a GRN mutation presenting with the logopenic variant of primary progressive aphasia at onset and with corticobasal syndrome subsequently.
Tomenaga T, Minatani S, Namba H, Takeda A, Yoshizaki T, Kawabe J, Keyoumu N, Morino H, Higuchi M, Matsubara T, Hatsuta H, Hasegawa M, Murayama S, Itoh Y. Tomenaga T, et al. Among authors: morino h. Neuropathology. 2024 May 7. doi: 10.1111/neup.12980. Online ahead of print. Neuropathology. 2024. PMID: 38715398
Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families.
Kittaka M, Mizuno N, Morino H, Yoshimoto T, Zhu T, Liu S, Wang Z, Mayahara K, Iio K, Kondo K, Kondo T, Hayashi T, Coghlan S, Teno Y, Doan AAP, Levitan M, Choi RB, Matsuda S, Ouhara K, Wan J, Cassidy AM, Pelletier S, Nampoothiri S, Urtizberea AJ, Robling AG, Ono M, Kawakami H, Reichenberger EJ, Ueki Y. Kittaka M, et al. Among authors: morino h. JBMR Plus. 2024 Apr 9;8(6):ziae050. doi: 10.1093/jbmrpl/ziae050. eCollection 2024 Jun. JBMR Plus. 2024. PMID: 38699440 Free PMC article.
Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation.
Morino H, Kurashige T, Matsuda Y, Ono M, Sahara N, Miyasaka T, Soeda Y, Shimada H, Yamazaki Y, Takahashi T, Izumi Y, Ito H, Maruyama H, Higuchi M, Arihiro K, Suhara T, Takashima A, Kawakami H. Morino H, et al. Mov Disord Clin Pract. 2024 Jun;11(6):720-727. doi: 10.1002/mdc3.14042. Epub 2024 Apr 11. Mov Disord Clin Pract. 2024. PMID: 38605589
152 results