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SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.
Naruse H, Ishiura H, Esaki K, Mitsui J, Satake W, Greimel P, Shingai N, Machino Y, Kokubo Y, Hamaguchi H, Oda T, Ikkaku T, Yokota I, Takahashi Y, Suzuki Y, Matsukawa T, Goto J, Koh K, Takiyama Y, Morishita S, Yoshikawa T, Tsuji S, Toda T. Naruse H, et al. Ann Clin Transl Neurol. 2024 Apr;11(4):946-957. doi: 10.1002/acn3.52013. Epub 2024 Feb 5. Ann Clin Transl Neurol. 2024. PMID: 38316966 Free PMC article.
[Familial Alzheimer disease].
Naruse H, Goto J, Tsuji S. Naruse H, et al. Nihon Rinsho. 2011 Dec;69 Suppl 10 Pt 2:246-51. Nihon Rinsho. 2011. PMID: 22755192 Review. Japanese. No abstract available.
Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation.
Naruse H, Ishiura H, Mitsui J, Date H, Takahashi Y, Matsukawa T, Tanaka M, Ishii A, Tamaoka A, Hokkoku K, Sonoo M, Segawa M, Ugawa Y, Doi K, Yoshimura J, Morishita S, Goto J, Tsuji S. Naruse H, et al. Neurobiol Aging. 2018 Jan;61:255.e9-255.e16. doi: 10.1016/j.neurobiolaging.2017.08.030. Epub 2017 Sep 6. Neurobiol Aging. 2018. PMID: 29033165
Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis.
Tohnai G, Nakamura R, Sone J, Nakatochi M, Yokoi D, Katsuno M, Watanabe H, Watanabe H, Ito M, Li Y, Izumi Y, Morita M, Taniguchi A, Kano O, Oda M, Kuwabara S, Abe K, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Aoki M, Hattori N, Onodera O, Naruse H, Mitsui J, Takahashi Y, Goto J, Ishiura H, Morishita S, Yoshimura J, Doi K, Tsuji S, Nakashima K, Kaji R, Atsuta N, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS). Tohnai G, et al. Among authors: naruse h. Neurobiol Aging. 2018 Apr;64:158.e15-158.e19. doi: 10.1016/j.neurobiolaging.2017.12.005. Epub 2017 Dec 11. Neurobiol Aging. 2018. PMID: 29398122
379 results