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Page 1
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N. Iwama K, et al. Among authors: nabatame s. J Med Genet. 2019 Jun;56(6):396-407. doi: 10.1136/jmedgenet-2018-105775. Epub 2019 Mar 6. J Med Genet. 2019. PMID: 30842224
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
Bromoderma in a patient with migrating partial seizures in infancy.
Nabatame S, Saito Y, Sakuma H, Komaki H, Nakagawa E, Sugai K, Sasaki M, Uchiyama K, Kosaka M. Nabatame S, et al. Epilepsy Res. 2010 Oct;91(2-3):283-8. doi: 10.1016/j.eplepsyres.2010.07.008. Epub 2010 Jul 31. Epilepsy Res. 2010. PMID: 20674275 Review.
Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly.
Arai A, Saito T, Hanai S, Sukigara S, Nabatame S, Otsuki T, Nakagawa E, Takahashi A, Kaneko Y, Kaido T, Saito Y, Sugai K, Sasaki M, Goto Y, Itoh M. Arai A, et al. Among authors: nabatame s. Brain Res. 2012 Aug 27;1470:89-97. doi: 10.1016/j.brainres.2012.06.009. Epub 2012 Jul 1. Brain Res. 2012. PMID: 22759905
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. Among authors: nabatame s. 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
Expression of astrocyte-related receptors in cortical dysplasia with intractable epilepsy.
Sukigara S, Dai H, Nabatame S, Otsuki T, Hanai S, Honda R, Saito T, Nakagawa E, Kaido T, Sato N, Kaneko Y, Takahashi A, Sugai K, Saito Y, Sasaki M, Goto Y, Koizumi S, Itoh M. Sukigara S, et al. Among authors: nabatame s. J Neuropathol Exp Neurol. 2014 Aug;73(8):798-806. doi: 10.1097/NEN.0000000000000099. J Neuropathol Exp Neurol. 2014. PMID: 25003238
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H. Tohyama J, et al. Among authors: nabatame s. J Hum Genet. 2015 Apr;60(4):167-73. doi: 10.1038/jhg.2015.5. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631096 Review.
54 results