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Page 1
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D. Saffari A, et al. Among authors: nabatame s. Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. Brain. 2023. PMID: 36315648 Free PMC article.
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
Itoh M, Dai H, Horike SI, Gonzalez J, Kitami Y, Meguro-Horike M, Kuki I, Shimakawa S, Yoshinaga H, Ota Y, Okazaki T, Maegaki Y, Nabatame S, Okazaki S, Kawawaki H, Ueno N, Goto YI, Kato Y. Itoh M, et al. Among authors: nabatame s. Brain. 2019 Mar 1;142(3):560-573. doi: 10.1093/brain/awz001. Brain. 2019. PMID: 30715177
Nationwide survey (incidence, clinical course, prognosis) of Rasmussen's encephalitis.
Muto A, Oguni H, Takahashi Y, Shirasaka Y, Sawaishi Y, Yano T, Hoshida T, Osaka H, Nakasu S, Akasaka N, Sugai K, Miyamoto A, Takahashi S, Suzuki M, Ohmori I, Nabatame S, Osawa M. Muto A, et al. Among authors: nabatame s. Brain Dev. 2010 Jun;32(6):445-53. doi: 10.1016/j.braindev.2009.10.004. Epub 2009 Nov 25. Brain Dev. 2010. PMID: 19942389
Sleep disordered breathing in childhood-onset acid maltase deficiency.
Nabatame S, Taniike M, Sakai N, Kato-Nishimura K, Mohri I, Kagitani-Shimono K, Okinaga T, Tachibana N, Ozono K. Nabatame S, et al. Brain Dev. 2009 Mar;31(3):234-9. doi: 10.1016/j.braindev.2008.03.007. Epub 2008 May 21. Brain Dev. 2009. PMID: 18495398
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.
Hashimoto N, Kagitani-Shimono K, Sakai N, Otomo T, Tominaga K, Nabatame S, Mogami Y, Takahashi Y, Imai K, Yanagihara K, Okinaga T, Nagai T, Taniike M, Ozono K. Hashimoto N, et al. Among authors: nabatame s. J Hum Genet. 2011 Dec;56(12):846-51. doi: 10.1038/jhg.2011.115. Epub 2011 Oct 20. J Hum Genet. 2011. PMID: 22011817
54 results