論文
2025年7月14日 13時11分 [総研 永野 26428]●Tanaka S, Akagawa H, Hase M, Iwasaki N
「Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young」
Hum Genome Var. 2025;12(1):8. Published 2025 May 16. doi:10.1038/s41439-025-00312-4
●Nomura S, Akagawa H, Yamaguchi K, Azuma K, Nakamura A, Fukui A, Matsuzawa F, Aihara Y, Ishikawa T, Moteki Y, Chiba K, Hashimoto K, Morita S, Ishiguro T, Okada Y, Vetiska S, Andrade-Barazarte H, Radovanovic I, Kawashima A, Kawamata T
「Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease 」
Transl Stroke Res. 2024 Dec;15(6):1142-1153. doi: 10.1007/s12975-023-01194-w
Epub 2023 Sep 28. PMID: 37768541
●Nakamura A, Nomura S, Hara S, Thamamongood T, Maehara T, Nariai T, Khairullah S, Tan KS, Azuma K, Chida-Nagai A, Furutani Y, Hori T, Yamaguchi K, Kawamata T, Roder C, Akagawa H
「Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome 」
Sci Rep. 2024 Oct 4;14(1):22720. doi: 10.1038/s41598-024-72043-5
PMID: 39367156; PMCID: PMC11452616
●Uchida M, Horisawa S, Azuma K, Akagawa H, Tokushige S, Kawamata T, Taira T
「Thalamic Deep Brain Stimulation for SPG56-Related Focal Hand Dystonia」
J Mov Disord. 2024 Oct;17(4):447-449. doi: 10.14802/jmd.24022
Epub 2024 Jun 27. PMID: 38932635; PMCID: PMC11540542
●Tanaka S, Akagawa H, Azuma K, Higuchi S, Ujiie A, Hashimoto K, Iwasaki N
「High prevalence of copy number variations in the Japanese participants with suspected MODY 」
Clin Genet. 2024 Sep;106(3):293-304. doi: 10.1111/cge.14544
Epub 2024 May 11. PMID: 38733153