Umemura A - Search Results

1

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

Ando M, Hashiguchi A, Okamoto Y, Yoshimura A, Hiramatsu Y, Yuan J, Higuchi Y, Mitsui J, Ishiura H, Umemura A, Maruyama K, Matsushige T, Morishita S, Nakagawa M, Tsuji S, Takashima H. Ando M, et al. Among authors: umemura a. J Peripher Nerv Syst. 2017 Sep;22(3):191-199. doi: 10.1111/jns.12228. Epub 2017 Jul 30. J Peripher Nerv Syst. 2017. PMID: 28660751 Free PMC article.

2

Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.

Maruyama K, Ogaya S, Kurahashi N, Umemura A, Yamada K, Hashiguchi A, Takashima H, Torres RJ, Aso K. Maruyama K, et al. Among authors: umemura a. Brain Dev. 2016 Nov;38(10):954-958. doi: 10.1016/j.braindev.2016.05.003. Epub 2016 May 30. Brain Dev. 2016. PMID: 27256512

3

Thalamic lesions in acute encephalopathy with biphasic seizures and late reduced diffusion.

Kurahashi N, Tsuji T, Kato T, Ogaya S, Umemura A, Yamada K, Kurahashi H, Maruyama K, Takeuchi T, Kubota T, Saitoh S, Natsume J, Okumura A. Kurahashi N, et al. Among authors: umemura a. Pediatr Neurol. 2014 Nov;51(5):701-5. doi: 10.1016/j.pediatrneurol.2014.07.013. Epub 2014 Jul 16. Pediatr Neurol. 2014. PMID: 25193414

4

[Two pediatric cases of chronic progressive subdural hematoma with brain atrophy following acute encephalitis/encephalopathy requiring surgical hematoma removal].

Yamada K, Kurahashi H, Ogaya S, Kurahashi N, Umemura A, Kawamura Y, Kato M, Maruyama K, Nagasaka M. Yamada K, et al. Among authors: umemura a. No To Hattatsu. 2016 Jan;48(1):49-51. No To Hattatsu. 2016. PMID: 27012112 Japanese. No abstract available.

5

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.

Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S. Negishi Y, et al. Among authors: umemura a. BMC Med Genet. 2017 Jan 13;18(1):4. doi: 10.1186/s12881-016-0363-6. BMC Med Genet. 2017. PMID: 28086757 Free PMC article.

6

SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

Yamamoto T, Shimojima K, Umemura A, Uematsu M, Nakayama T, Inoue K. Yamamoto T, et al. Among authors: umemura a. Hum Genome Var. 2014 Oct 9;1:14010. doi: 10.1038/hgv.2014.10. eCollection 2014. Hum Genome Var. 2014. PMID: 27081503 Free PMC article.

7

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing.

Mizuguchi T, Suzuki T, Abe C, Umemura A, Tokunaga K, Kawai Y, Nakamura M, Nagasaki M, Kinoshita K, Okamura Y, Miyatake S, Miyake N, Matsumoto N. Mizuguchi T, et al. Among authors: umemura a. J Hum Genet. 2019 May;64(5):359-368. doi: 10.1038/s10038-019-0569-5. Epub 2019 Feb 13. J Hum Genet. 2019. PMID: 30760880

8

Pancreatic Ductal Adenocarcinoma Encapsulated by a Tumor-Forming Type 1 Autoimmune Pancreatitis Located at the Pancreatic Tail: A Case Report.

Ando T, Nitta H, Umemura A, Katagiri H, Kanno S, Takeda D, Nishiya M, Uesugi N, Sugai T, Sasaki A. Ando T, et al. Among authors: umemura a. Case Rep Gastroenterol. 2024 Mar 27;18(1):181-188. doi: 10.1159/000536008. eCollection 2024 Jan-Dec. Case Rep Gastroenterol. 2024. PMID: 38545368 Free PMC article.

9

Inter-individual variations in circadian misalignment-induced NAFLD pathophysiology in mice.

Koike N, Umemura Y, Inokawa H, Tokuda I, Tsuchiya Y, Sasawaki Y, Umemura A, Masuzawa N, Yabumoto K, Seya T, Sugimoto A, Yoo SH, Chen Z, Yagita K. Koike N, et al. Among authors: umemura a. iScience. 2024 Feb 5;27(2):108934. doi: 10.1016/j.isci.2024.108934. eCollection 2024 Feb 16. iScience. 2024. PMID: 38533453 Free PMC article.

10

Transthoracic transdiaphragmatic approach in laparoscopic liver resection for hepatocellular carcinoma in a patient with severe obesity and history of deceased donor liver transplantation.

Umemura A, Nitta H, Takeda D, Katagiri H, Kanno S, Sasaki A. Umemura A, et al. Asian J Endosc Surg. 2024 Apr;17(2):e13305. doi: 10.1111/ases.13305. Asian J Endosc Surg. 2024. PMID: 38508162

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