Miya K - Search Results

1

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.

Miyatake S, Koshimizu E, Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, Matsumoto N. Miyatake S, et al. Among authors: miya k. Neuromuscul Disord. 2014 Jul;24(7):642-7. doi: 10.1016/j.nmd.2014.04.002. Epub 2014 Apr 24. Neuromuscul Disord. 2014. PMID: 24852243

2

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N. Kato M, et al. Among authors: miya k. Neurology. 2014 May 6;82(18):1587-96. doi: 10.1212/WNL.0000000000000389. Epub 2014 Apr 4. Neurology. 2014. PMID: 24706016

3

Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.

Kohashi K, Ishiyama A, Yuasa S, Tanaka T, Miya K, Adachi Y, Sato N, Saitsu H, Ohba C, Matsumoto N, Murakami Y, Kinoshita T, Sugai K, Sasaki M. Kohashi K, et al. Among authors: miya k. Brain Dev. 2018 Jan;40(1):53-57. doi: 10.1016/j.braindev.2017.06.005. Epub 2017 Jul 17. Brain Dev. 2018. PMID: 28728837

4

An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.

Shimada S, Miya K, Oda N, Watanabe Y, Kumada T, Sugawara M, Shimojima K, Yamamoto T. Shimada S, et al. Among authors: miya k. Am J Med Genet A. 2012 Jul;158A(7):1771-7. doi: 10.1002/ajmg.a.35431. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678813

5

An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region.

Hata Y, Kinoshita K, Miya K, Hirono K, Ichida F, Yoshida K, Nishida N. Hata Y, et al. Among authors: miya k. Int J Clin Exp Pathol. 2014 May 15;7(6):3355-62. eCollection 2014. Int J Clin Exp Pathol. 2014. PMID: 25031760 Free PMC article.

6

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.

Okumura A, Shimojima K, Kurahashi H, Numoto S, Shimada S, Ishii A, Ohmori I, Takahashi S, Awaya T, Kubota T, Sakakibara T, Ishihara N, Hattori A, Torisu H, Tohyama J, Inoue T, Haibara A, Nishida T, Yuhara Y, Miya K, Tanaka R, Hirose S, Yamamoto T. Okumura A, et al. Among authors: miya k. Seizure. 2019 Oct;71:1-5. doi: 10.1016/j.seizure.2019.05.017. Epub 2019 May 20. Seizure. 2019. PMID: 31154286 Free article.

7

Learning difficulties in Japanese schoolchildren with focal epilepsy.

Miyazaki M, Tanaka T, Adachi Y, Miya K. Miyazaki M, et al. Among authors: miya k. Brain Dev. 2020 Oct;42(9):655-662. doi: 10.1016/j.braindev.2020.06.004. Epub 2020 Jul 3. Brain Dev. 2020. PMID: 32624240

8

Toddler Neurodevelopmental Outcomes Are Associated With School-Age IQ in Children With Single Ventricle Physiology.

Hiraiwa A, Ibuki K, Tanaka T, Hirono K, Miya K, Yoshimura N, Ichida F. Hiraiwa A, et al. Among authors: miya k. Semin Thorac Cardiovasc Surg. 2020 Summer;32(2):302-310. doi: 10.1053/j.semtcvs.2019.10.017. Epub 2019 Nov 4. Semin Thorac Cardiovasc Surg. 2020. PMID: 31698030

9

Cortical contribution to scalp EEG gamma rhythms associated with epileptic spasms.

Kobayashi K, Miya K, Akiyama T, Endoh F, Oka M, Yoshinaga H, Ohtsuka Y. Kobayashi K, et al. Among authors: miya k. Brain Dev. 2013 Sep;35(8):762-70. doi: 10.1016/j.braindev.2012.12.012. Epub 2013 Feb 11. Brain Dev. 2013. PMID: 23410838

10

Anti-NMDAR autoimmune encephalitis.

Miya K, Takahashi Y, Mori H. Miya K, et al. Brain Dev. 2014 Sep;36(8):645-52. doi: 10.1016/j.braindev.2013.10.005. Epub 2013 Nov 5. Brain Dev. 2014. PMID: 24211006 Review.

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