Goto T - Search Results

1

Discordant phenotype caused by CASK mutation in siblings with NF1.

Murakami H, Kimura Y, Enomoto Y, Tsurusaki Y, Akahira-Azuma M, Kuroda Y, Tsuji M, Goto T, Kurosawa K. Murakami H, et al. Among authors: goto t. Hum Genome Var. 2019 Apr 26;6:20. doi: 10.1038/s41439-019-0051-0. eCollection 2019. Hum Genome Var. 2019. PMID: 31044082 Free PMC article.

2

De novo DNM1 mutations in two cases of epileptic encephalopathy.

Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N. Nakashima M, et al. Among authors: goto t. Epilepsia. 2016 Jan;57(1):e18-23. doi: 10.1111/epi.13257. Epub 2015 Nov 27. Epilepsia. 2016. PMID: 26611353 Free article.

3

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.

Enokizono M, Aida N, Niwa T, Osaka H, Naruto T, Kurosawa K, Ohba C, Suzuki T, Saitsu H, Goto T, Matsumoto N. Enokizono M, et al. Among authors: goto t. J Neurol Sci. 2017 May 15;376:7-12. doi: 10.1016/j.jns.2017.02.065. Epub 2017 Mar 1. J Neurol Sci. 2017. PMID: 28431631

4

Serial Magnetic Resonance Imaging and ¹H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report.

Ichikawa K, Tsuji M, Tsuyusaki Y, Tomiyasu M, Aida N, Goto T. Ichikawa K, et al. Among authors: goto t. JIMD Rep. 2019;43:7-12. doi: 10.1007/8904_2018_95. Epub 2018 Feb 25. JIMD Rep. 2019. PMID: 29478219 Free PMC article.

5

Long-term home non-invasive positive pressure ventilation in children: Results from a single center in Japan.

Ikeda A, Tsuji M, Goto T, Iai M. Ikeda A, et al. Among authors: goto t. Brain Dev. 2018 Aug;40(7):558-565. doi: 10.1016/j.braindev.2018.03.006. Epub 2018 Apr 7. Brain Dev. 2018. PMID: 29636207

6

Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.

Ikeda A, Yamamoto A, Ichikawa K, Tsuyusaki Y, Tsuji M, Iai M, Enomoto Y, Murakami H, Kurosawa K, Miyatake S, Matsumoto N, Goto T. Ikeda A, et al. Among authors: goto t. Epilepsy Behav Rep. 2019 Dec 5;13:100349. doi: 10.1016/j.ebr.2019.100349. eCollection 2020. Epilepsy Behav Rep. 2019. PMID: 31879735 Free PMC article.

7

Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years.

Tsuji M, Tanaka M, Tanaka Y, Ikeda A, Tsuyusaki Y, Goto T, Iai M. Tsuji M, et al. Among authors: goto t. Neuropediatrics. 2020 Aug;51(4):298-301. doi: 10.1055/s-0040-1705172. Epub 2020 Mar 6. Neuropediatrics. 2020. PMID: 32143223

8

Expanding the phenotype of COL4A1-related disorders-Four novel variants.

Nishimura N, Kumaki T, Murakami H, Enomoto Y, Tsurusaki Y, Tsuji M, Tsuyusaki Y, Goto T, Aida N, Kurosawa K. Nishimura N, et al. Among authors: goto t. Brain Dev. 2020 Oct;42(9):639-645. doi: 10.1016/j.braindev.2020.05.009. Epub 2020 Jun 19. Brain Dev. 2020. PMID: 32565002

9

Nonsense variants of STAG2 result in distinct congenital anomalies.

Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N. Aoi H, et al. Among authors: goto t. Hum Genome Var. 2020 Sep 18;7:26. doi: 10.1038/s41439-020-00114-w. eCollection 2020. Hum Genome Var. 2020. PMID: 33014403 Free PMC article.

10

Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.

Anzai R, Tsuji M, Yamashita S, Wada Y, Okamoto N, Saitsu H, Matsumoto N, Goto T. Anzai R, et al. Among authors: goto t. Brain Dev. 2021 Mar;43(3):402-410. doi: 10.1016/j.braindev.2020.10.013. Epub 2020 Nov 28. Brain Dev. 2021. PMID: 33261925 Free 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

4,446 results

Search Page