Nakamura Y - Search Results

1

A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.

Nakamura Y, Hattori A, Nakashima M, Ieda D, Hori I, Negishi Y, Ando N, Matsumoto N, Saitoh S. Nakamura Y, et al. Brain Dev. 2018 Mar;40(3):222-225. doi: 10.1016/j.braindev.2017.09.010. Epub 2017 Oct 21. Brain Dev. 2018. PMID: 29066118

2

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.

Nakamura Y, Togawa Y, Okuno Y, Muramatsu H, Nakabayashi K, Kuroki Y, Ieda D, Hori I, Negishi Y, Togawa T, Hattori A, Kojima S, Saitoh S. Nakamura Y, et al. Brain Dev. 2018 Feb;40(2):134-139. doi: 10.1016/j.braindev.2017.08.003. Epub 2017 Oct 12. Brain Dev. 2018. PMID: 28893434

3

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.

Ieda D, Hori I, Nakamura Y, Ohshita H, Negishi Y, Shinohara T, Hattori A, Kato T, Inukai S, Kitamura K, Kawai T, Ohara O, Kunishima S, Saitoh S. Ieda D, et al. Among authors: nakamura y. Brain Dev. 2018 Jun;40(6):489-492. doi: 10.1016/j.braindev.2018.01.010. Epub 2018 Feb 12. Brain Dev. 2018. PMID: 29449050

4

Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndrome.

Hashimoto A, Kuki I, Fukuoka M, Kim K, Inoue T, Nukui M, Okazaki S, Kawawaki H, Nakamura Y, Saitoh S. Hashimoto A, et al. Among authors: nakamura y. Brain Dev. 2019 Aug;41(7):625-629. doi: 10.1016/j.braindev.2019.03.003. Epub 2019 Mar 20. Brain Dev. 2019. PMID: 30904181

5

A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome.

Ieda D, Hori I, Nakamura Y, Ohashi K, Negishi Y, Hattori A, Arisaka A, Hasegawa S, Saitoh S. Ieda D, et al. Among authors: nakamura y. Hum Genome Var. 2019 Mar 25;6:15. doi: 10.1038/s41439-019-0046-x. eCollection 2019. Hum Genome Var. 2019. PMID: 30937176 Free PMC article.

6

Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease.

Nakamura Y, Kato K, Tsuchida N, Matsumoto N, Takahashi Y, Saitoh S. Nakamura Y, et al. PLoS One. 2019 Aug 20;14(8):e0221482. doi: 10.1371/journal.pone.0221482. eCollection 2019. PLoS One. 2019. PMID: 31430354 Free PMC article.

7

A novel CUL4B splice site variant in a young male exhibiting less pronounced features.

Nakamura Y, Okuno Y, Muramatsu H, Kawai T, Satou K, Ieda D, Hori I, Ohashi K, Negishi Y, Hattori A, Takahashi Y, Kojima S, Saitoh S. Nakamura Y, et al. Hum Genome Var. 2019 Sep 4;6:43. doi: 10.1038/s41439-019-0074-6. eCollection 2019. Hum Genome Var. 2019. PMID: 31645981 Free PMC article.

8

Novel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosum.

Yamaguchi N, Ban K, Suzuki A, Nakamura Y, Kato K, Muramatsu H, Okuno Y, Hattori A, Kaname T, Takahashi Y, Saitoh S. Yamaguchi N, et al. Among authors: nakamura y. Brain Dev. 2020 Mar;42(3):298-301. doi: 10.1016/j.braindev.2019.12.003. Epub 2019 Dec 31. Brain Dev. 2020. PMID: 31899079

9

Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant.

Hori I, Ieda D, Ito S, Ebe S, Nakamura Y, Ohashi K, Aoyama K, Hattori A, Kokubo M, Saitoh S. Hori I, et al. Among authors: nakamura y. Brain Dev. 2021 Apr;43(4):590-595. doi: 10.1016/j.braindev.2020.12.008. Epub 2021 Jan 2. Brain Dev. 2021. PMID: 33402283

10

A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.

Aiba K, Nakamura Y, Sugimoto M, Yatsuka Y, Okazaki Y, Murayama K, Ohtake A, Yokochi K, Saitoh S. Aiba K, et al. Among authors: nakamura y. Eur J Med Genet. 2021 Aug;64(8):104251. doi: 10.1016/j.ejmg.2021.104251. Epub 2021 May 27. Eur J Med Genet. 2021. PMID: 34051360

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