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Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia.
Furuta Y, Osaki Y, Nakagawa Y, Han SI, Araki M, Shikama A, Ohuchi N, Yamazaki D, Matsuda E, Nohara S, Mizunoe Y, Kainoh K, Suehara Y, Ohno H, Takeuchi Y, Miyamoto T, Murayama Y, Sugano Y, Iwasaki H, Hirano KI, Koseki M, Nakano S, Tokiwa H, Sekiya M, Yahagi N, Matsuzaka T, Nakamagoe K, Tomidokoro Y, Mitsui J, Tsuji S, Suzuki H, Shimano H. Furuta Y, et al. Among authors: mitsui j. J Atheroscler Thromb. 2024 Mar 28. doi: 10.5551/jat.64579. Online ahead of print. J Atheroscler Thromb. 2024. PMID: 38538338 Free article.
RFC1-related disorder presenting recurrent syncope.
Tsuboyama Y, Takahashi A, Furukawa S, Almansour A, Hamada M, Kubota A, Shimizu J, Kinoshita M, Fujimoto C, Mitsui J, Matsukawa T, Naruse H, Ishiura H, Tsuji S, Toda T. Tsuboyama Y, et al. Among authors: mitsui j. J Neurol. 2024 Mar 7. doi: 10.1007/s00415-024-12231-5. Online ahead of print. J Neurol. 2024. PMID: 38451278 No abstract available.
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. Among authors: mitsui j. 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.
Meningiomas in patients with neurofibromatosis type 2 predominantly comprise 'immunogenic subtype' tumours characterised by macrophage infiltration.
Teranishi Y, Miyawaki S, Nakatochi M, Okano A, Ohara K, Hongo H, Ishigami D, Sakai Y, Shimada D, Takayanagi S, Ikemura M, Komura D, Katoh H, Mitsui J, Morishita S, Ushiku T, Ishikawa S, Nakatomi H, Saito N. Teranishi Y, et al. Among authors: mitsui j. Acta Neuropathol Commun. 2023 Sep 26;11(1):156. doi: 10.1186/s40478-023-01645-3. Acta Neuropathol Commun. 2023. PMID: 37752594 Free PMC article.
Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease.
Yamaguchi-Takegami N, Takahashi A, Mitsui J, Sugiyama Y, Chikada A, Porto KJL, Takegami N, Sakuishi K, Ishiura H, Yamada K, Shimizu J, Tsuji S, Toda T. Yamaguchi-Takegami N, et al. Among authors: mitsui j. Intern Med. 2024 Mar 15;63(6):861-865. doi: 10.2169/internalmedicine.1699-23. Epub 2023 Aug 9. Intern Med. 2024. PMID: 37558486 Free PMC article.
160 results