Fukumura S - Search Results

1

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review.

Yamamoto A, Fukumura S, Habata Y, Miyamoto S, Nakashima M, Takashima S, Kawasaki Y, Shimozawa N, Saitsu H. Yamamoto A, et al. Among authors: fukumura s. Child Neurol Open. 2021 Oct 11;8:2329048X211048613. doi: 10.1177/2329048X211048613. eCollection 2021 Jan-Dec. Child Neurol Open. 2021. PMID: 34660840 Free PMC article.

2

Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.

Fukumura S, Ohba C, Watanabe T, Minagawa K, Shimura M, Murayama K, Ohtake A, Saitsu H, Matsumoto N, Tsutsumi H. Fukumura S, et al. J Hum Genet. 2015 Sep;60(9):509-13. doi: 10.1038/jhg.2015.57. Epub 2015 May 28. J Hum Genet. 2015. PMID: 26016410

3

Rapidly progressive fatal idiopathic hypertrophic pachymeningitis with brainstem involvement in a child.

Tsuchida K, Fukumura S, Yamamoto A, Akiyama Y, Hirano H, Tsutsumi H. Tsuchida K, et al. Among authors: fukumura s. Childs Nerv Syst. 2018 Sep;34(9):1795-1798. doi: 10.1007/s00381-018-3819-5. Epub 2018 May 5. Childs Nerv Syst. 2018. PMID: 29730790

4

Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome.

Fukumura S, Yamauchi K, Kawanabe A, Yamamoto A, Nakaza M, Kubota T, Kato S, Sasaki R, Okamura Y, Takahashi MP. Fukumura S, et al. J Neurol Sci. 2019 Dec 15;407:116521. doi: 10.1016/j.jns.2019.116521. Epub 2019 Oct 15. J Neurol Sci. 2019. PMID: 31669729

5

Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance.

Hiraide T, Fukumura S, Yamamoto A, Nakashima M, Saitsu H. Hiraide T, et al. Among authors: fukumura s. Brain Dev. 2021 Mar;43(3):470-474. doi: 10.1016/j.braindev.2020.10.010. Epub 2020 Nov 14. Brain Dev. 2021. PMID: 33199157

6

Resveratrol improves motor function in patients with muscular dystrophies: an open-label, single-arm, phase IIa study.

Kawamura K, Fukumura S, Nikaido K, Tachi N, Kozuka N, Seino T, Hatakeyama K, Mori M, Ito YM, Takami A, Hinotsu S, Kuno A, Kawasaki Y, Horio Y, Tsutsumi H. Kawamura K, et al. Among authors: fukumura s. Sci Rep. 2020 Nov 25;10(1):20585. doi: 10.1038/s41598-020-77197-6. Sci Rep. 2020. PMID: 33239684 Free PMC article. Clinical Trial.

7

Stereotyped Upper Limb Movement in MECP2 Duplication Syndrome.

Wakabayashi T, Fukumura S, Takahashi S, Kurosawa K, Miyamoto S, Tsuchida K, Kato S, Tsugawa T, Sakai Y, Kawasaki Y. Wakabayashi T, et al. Among authors: fukumura s. Neurology. 2021 Jul 13;97(2):92-94. doi: 10.1212/WNL.0000000000012130. Epub 2021 Apr 30. Neurology. 2021. PMID: 33931529 No abstract available.

8

A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay.

Fukumura S, Hiraide T, Yamamoto A, Tsuchida K, Aoto K, Nakashima M, Saitsu H. Fukumura S, et al. Brain Dev. 2022 Feb;44(2):178-183. doi: 10.1016/j.braindev.2021.09.006. Epub 2021 Sep 28. Brain Dev. 2022. PMID: 34598833

9

An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation.

Miyamoto S, Nakashima M, Fukumura S, Kumada S, Saitsu H. Miyamoto S, et al. Among authors: fukumura s. Neurogenetics. 2022 Apr;23(2):129-135. doi: 10.1007/s10048-022-00686-5. Epub 2022 Feb 11. Neurogenetics. 2022. PMID: 35147852

10

Two novel heterozygous variants in ATP1A3 cause movement disorders.

Furukawa S, Miyamoto S, Fukumura S, Kubota K, Taga T, Nakashima M, Saitsu H. Furukawa S, et al. Among authors: fukumura s. Hum Genome Var. 2022 Feb 18;9(1):7. doi: 10.1038/s41439-022-00184-y. Hum Genome Var. 2022. PMID: 35181663 Free PMC article.

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