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Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population.
Furuta Y, Akiyama M, Hirabayashi N, Honda T, Shibata M, Ohara T, Hata J, Terao C, Momozawa Y, Tatewaki Y, Taki Y, Nakaji S, Maeda T, Ono K, Mimura M, Nakashima K, Iga JI, Takebayashi M, Ninomiya T; Japan Prospective Studies for Aging and Dementia (JPSC-AD) Study Group. Furuta Y, et al. NPJ Genom Med. 2024 Nov 13;9(1):59. doi: 10.1038/s41525-024-00431-x. NPJ Genom Med. 2024. PMID: 39537646 Free PMC article.
The Clinical Spectrum of Mosaic Genetic Disease.
Geiger H, Furuta Y, van Wyk S, Phillips JA 3rd, Tinker RJ. Geiger H, et al. Among authors: furuta y. Genes (Basel). 2024 Sep 24;15(10):1240. doi: 10.3390/genes15101240. Genes (Basel). 2024. PMID: 39457364 Free PMC article. Review.
Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition.
Ezell KM, Furuta Y, Oglesbee D, Pivnick EK, Rinker D, Sheehan JH, Tinker RJ, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Koziura M, Phillips JA 3rd; Undiagnosed Diseases Network. Ezell KM, et al. Among authors: furuta y. Mol Genet Metab Rep. 2024 Oct 5;41:101145. doi: 10.1016/j.ymgmr.2024.101145. eCollection 2024 Dec. Mol Genet Metab Rep. 2024. PMID: 39435313 Free PMC article.
677 results