Nagata S - Search Results

1

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.

Yanagishita T, Eto K, Yamamoto-Shimojima K, Segawa O, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Nagata S, Yamamoto T. Yanagishita T, et al. Among authors: nagata s, nagata m. Hum Genome Var. 2021 May 6;8(1):16. doi: 10.1038/s41439-021-00148-8. Hum Genome Var. 2021. PMID: 33958584 Free PMC article.

2

HECW2-related disorder in four Japanese patients.

Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. Yanagishita T, et al. Among authors: nagata s, nagata m. Am J Med Genet A. 2021 Oct;185(10):2895-2902. doi: 10.1002/ajmg.a.62363. Epub 2021 May 28. Am J Med Genet A. 2021. PMID: 34047014

3

Corrigendum to "HECW2-related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363".

Yanagishita T, Hirade T, Yamamoto KS, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. Yanagishita T, et al. Among authors: nagata s, nagata m. Am J Med Genet A. 2021 Dec;185(12):3926-3927. doi: 10.1002/ajmg.a.62414. Epub 2021 Jul 10. Am J Med Genet A. 2021. PMID: 34245093 No abstract available.

4

A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures.

Shimada S, Hirano Y, Ito S, Oguni H, Nagata S, Shimojima K, Yamamoto T. Shimada S, et al. Among authors: nagata s. Hum Genome Var. 2014 Dec 4;1:14027. doi: 10.1038/hgv.2014.27. eCollection 2014. Hum Genome Var. 2014. PMID: 27081515 Free PMC article.

5

An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.

Shimada S, Oguni H, Otani Y, Nishikawa A, Ito S, Eto K, Nakazawa T, Yamamoto-Shimojima K, Takanashi JI, Nagata S, Yamamoto T. Shimada S, et al. Among authors: nagata s. Brain Dev. 2018 Oct;40(9):813-818. doi: 10.1016/j.braindev.2018.05.010. Epub 2018 May 29. Brain Dev. 2018. PMID: 29858110

6

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.

Shimada S, Hirasawa K, Takeshita A, Nakatsukasa H, Yamamoto-Shimojima K, Imaizumi T, Nagata S, Yamamoto T. Shimada S, et al. Among authors: nagata s. Am J Med Genet A. 2018 Dec;176(12):2803-2807. doi: 10.1002/ajmg.a.40500. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152144

7

Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern.

Yanagishita T, Imaizumi T, Yamamoto-Shimojima K, Yano T, Okamoto N, Nagata S, Yamamoto T. Yanagishita T, et al. Among authors: nagata s. Hum Mutat. 2020 Dec;41(12):2119-2127. doi: 10.1002/humu.24108. Epub 2020 Sep 19. Hum Mutat. 2020. PMID: 32906213

8

Two cases of childhood narcolepsy mimicking epileptic seizures in video-EEG/EMG.

Yanagishita T, Ito S, Ohtani Y, Eto K, Kanbayashi T, Oguni H, Nagata S. Yanagishita T, et al. Among authors: nagata s. Brain Dev. 2018 Nov;40(10):939-942. doi: 10.1016/j.braindev.2018.05.015. Epub 2018 Jun 7. Brain Dev. 2018. PMID: 29885874

9

Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency.

Suzuki Y, Ito S, Otani Y, Nishikawa A, Eto K, Hara K, Oguni H, Nagata S. Suzuki Y, et al. Among authors: nagata s. Brain Dev. 2021 May;43(5):657-660. doi: 10.1016/j.braindev.2021.01.001. Epub 2021 Feb 3. Brain Dev. 2021. PMID: 33549404

10

A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.

Matsumaru S, Oguni H, Ogura H, Shimojima K, Nagata S, Kanno H, Yamamoto T. Matsumaru S, et al. Among authors: nagata s. Intractable Rare Dis Res. 2017 May;6(2):132-136. doi: 10.5582/irdr.2017.01020. Intractable Rare Dis Res. 2017. PMID: 28580215 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

2,115 results

Search Page