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X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A. Miyake N, et al. Among authors: kimura ohba s. Neurogenetics. 2017 Dec;18(4):185-194. doi: 10.1007/s10048-017-0520-x. Epub 2017 Aug 26. Neurogenetics. 2017. PMID: 28842795 Free PMC article.
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia.
Kimura-Ohba S, Kagitani-Shimono K, Hashimoto N, Nabatame S, Okinaga T, Murakami A, Miyake N, Matsumoto N, Osaka H, Hojo K, Tomita R, Taniike M, Ozono K. Kimura-Ohba S, et al. Am J Med Genet A. 2013 Jan;161A(1):203-7. doi: 10.1002/ajmg.a.35686. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239615
Clasmatodendrosis is associated with dendritic spines and does not represent autophagic astrocyte death in influenza-associated encephalopathy.
Tachibana M, Mohri I, Hirata I, Kuwada A, Kimura-Ohba S, Kagitani-Shimono K, Fushimi H, Inoue T, Shiomi M, Kakuta Y, Takeuchi M, Murayama S, Nakayama M, Ozono K, Taniike M. Tachibana M, et al. Among authors: kimura ohba s. Brain Dev. 2019 Jan;41(1):85-95. doi: 10.1016/j.braindev.2018.07.008. Epub 2018 Jul 26. Brain Dev. 2019. PMID: 30057207
21 results