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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: toda t. J Neurol. 2024 Jul;271(7):4635-4638. doi: 10.1007/s00415-024-12231-5. Epub 2024 Mar 7. J Neurol. 2024. PMID: 38451278 No abstract available.
Correction to: 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: toda t. J Neurol. 2024 Jul;271(7):4639. doi: 10.1007/s00415-024-12394-1. J Neurol. 2024. PMID: 38802625 No abstract available.
A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes.
Naruse H, Iseki C, Mitsui J, Miki J, Nagasawa H, Kurokawa K, Kobayashi R, Sato H, Goto J, Satake W, Ishiura H, Tsuji S, Ohta Y, Toda T. Naruse H, et al. Among authors: toda t. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Nov;25(7-8):791-794. doi: 10.1080/21678421.2024.2374374. Epub 2024 Jul 4. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 38963079
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
Orimo K, Mitsui J, Matsukawa T, Tanaka M, Nomoto J, Ishiura H, Omae Y, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium; Toda T, Tsuji S. Orimo K, et al. Among authors: toda t. J Hum Genet. 2024 Dec;69(12):613-621. doi: 10.1038/s10038-024-01266-1. Epub 2024 Jul 18. J Hum Genet. 2024. PMID: 39020124 Free PMC article.
1,387 results