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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: matsumoto n. J Neurol Neurosurg Psychiatry. 2024 Nov 18;95(12):1187-1195. doi: 10.1136/jnnp-2024-333541. J Neurol Neurosurg Psychiatry. 2024. PMID: 38816190
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. Among authors: matsumoto k, matsumoto n. 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
Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population.
Inamori KI, Nakamura K, Shishido F, Hsu JC, Nagafuku M, Nitta T, Ikeda J, Yoshimura H, Kodaira M, Tsuchida N, Matsumoto N, Uemura S, Ohno S, Manabe N, Yamaguchi Y, Togayachi A, Aoki-Kinoshita KF, Nishihara S, Furukawa JI, Kaname T, Nakamura M, Shimohata T, Tadaka S, Shirota M, Kinoshita K, Nakamura Y, Ohno I, Sekijima Y, Inokuchi JI. Inamori KI, et al. Among authors: matsumoto n. Front Neurosci. 2024 Jul 31;18:1437668. doi: 10.3389/fnins.2024.1437668. eCollection 2024. Front Neurosci. 2024. PMID: 39145292 Free PMC article.
High-risk pathogenic germline variants in blood relatives of BRCA1/2 negative probands.
Yoshida R, Kaneyasu T, Ueki A, Yamauchi H, Ohsumi S, Ohno S, Aoki D, Baba S, Kawano J, Matsumoto N, Nagasaki M, Ueno T, Inari H, Kobayashi Y, Takei J, Gotoh O, Nishi M, Okamura M, Kaneko K, Okawa M, Suzuki M, Amino S, Inuzuka M, Noda T, Mori S, Nakamura S. Yoshida R, et al. Among authors: matsumoto n. Breast Cancer. 2024 Nov;31(6):1028-1036. doi: 10.1007/s12282-024-01615-0. Epub 2024 Jul 13. Breast Cancer. 2024. PMID: 39003386 Free PMC article.
A case of bipolar I disorder with a loss-of-function variant of schizophrenia risk gene SETD1A: possible expansion of the relevant clinical spectrum supported by a meta-analysis.
Hara T, Kazuno AA, Toyota T, Ueda J, Shuno T, Mukai J, Sato TA, Matsumoto N, Yoshikawa T, Takata A. Hara T, et al. Among authors: matsumoto n. Psychiatry Clin Neurosci. 2024 Jun;78(6):374-375. doi: 10.1111/pcn.13669. Epub 2024 Apr 22. Psychiatry Clin Neurosci. 2024. PMID: 38646907 No abstract available.
The cortical areas processing periodontal ligament nociception in mice.
Okuma R, Kobayashi S, Kobayashi S, Arai Y, Matsumoto N, Motoyoshi M, Kobayashi M, Fujita S. Okuma R, et al. Among authors: matsumoto n. J Oral Biosci. 2024 Dec 10:100597. doi: 10.1016/j.job.2024.100597. Online ahead of print. J Oral Biosci. 2024. PMID: 39667668
3,338 results