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Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype.
Iida T, Igarashi A, Fukunaga K, Aoki T, Hidai T, Yanagi K, Yamamori M, Satou K, Go H, Kosho T, Maki R, Suzuki T, Nitta Y, Sugie A, Asaoka Y, Furutani-Seiki M, Kimura T, Matsubara Y, Kaname T. Iida T, et al. Among authors: sugie a. Front Genet. 2024 Mar 27;15:1383176. doi: 10.3389/fgene.2024.1383176. eCollection 2024. Front Genet. 2024. PMID: 38601074 Free PMC article.
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.
Yamada M, Nitta Y, Uehara T, Suzuki H, Miya F, Takenouchi T, Tamura M, Ayabe S, Yoshiki A, Maeno A, Saga Y, Furuse T, Yamada I, Okamoto N, Kosaki K, Sugie A. Yamada M, et al. Among authors: sugie a. Eur J Med Genet. 2023 Aug;66(8):104804. doi: 10.1016/j.ejmg.2023.104804. Epub 2023 Jun 25. Eur J Med Genet. 2023. PMID: 37369308
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Among authors: sugie a. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Ulnar Neuropathy Caused by a Giant Epidermal Cyst at the Elbow: Case Report.
Yokoyama K, Ikeda N, Ito Y, Henmi N, Tanaka H, Sugie A, Yamada M, Wanibuchi M, Kawanishi M. Yokoyama K, et al. Among authors: sugie a. NMC Case Rep J. 2024 Jul 27;11:187-190. doi: 10.2176/jns-nmc.2024-0019. eCollection 2024. NMC Case Rep J. 2024. PMID: 39183797 Free PMC article.
Endoscopic Transsphenoidal Drainage for Rathke Cleft Cyst With Sellar Xanthogranuloma - Successful Cyst Drainage and Prevention of Postoperative Cerebrospinal Fluid Leakage: 2-Dimensional Operative Video.
Ikeda N, Yokoyama K, Ito Y, Tanaka H, Yamada M, Sugie A, Takami T, Wanibuchi M, Kawanishi M. Ikeda N, et al. Among authors: sugie a. Oper Neurosurg (Hagerstown). 2024 Aug 14. doi: 10.1227/ons.0000000000001312. Online ahead of print. Oper Neurosurg (Hagerstown). 2024. PMID: 39140755
96 results