Ohno K - Search Results

1

Evaluation of Human-Induced Pluripotent Stem Cells Derived from a Patient with Schwartz-Jampel Syndrome Revealed Distinct Hyperexcitability in the Skeletal Muscles.

Yamashita Y, Nakada S, Nakamura K, Sakurai H, Ohno K, Goto T, Mabuchi Y, Akazawa C, Hattori N, Arikawa-Hirasawa E. Yamashita Y, et al. Among authors: ohno k. Biomedicines. 2023 Mar 7;11(3):814. doi: 10.3390/biomedicines11030814. Biomedicines. 2023. PMID: 36979792 Free PMC article.

2

A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.

Yoshinaga H, Sakoda S, Good JM, Takahashi MP, Kubota T, Arikawa-Hirasawa E, Nakata T, Ohno K, Kitamura T, Kobayashi K, Ohtsuka Y. Yoshinaga H, et al. Among authors: ohno k. J Neurol Sci. 2012 Apr 15;315(1-2):15-9. doi: 10.1016/j.jns.2011.12.015. Epub 2012 Jan 16. J Neurol Sci. 2012. PMID: 22257501

3

A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space.

Iwata S, Ito M, Nakata T, Noguchi Y, Okuno T, Ohkawara B, Masuda A, Goto T, Adachi M, Osaka H, Nonaka R, Arikawa-Hirasawa E, Ohno K. Iwata S, et al. Among authors: ohno k. Neuromuscul Disord. 2015 Aug;25(8):667-71. doi: 10.1016/j.nmd.2015.05.002. Epub 2015 May 8. Neuromuscul Disord. 2015. PMID: 26031903

4

Extremely low-frequency pulses of faint magnetic field induce mitophagy to rejuvenate mitochondria.

Toda T, Ito M, Takeda JI, Masuda A, Mino H, Hattori N, Mohri K, Ohno K. Toda T, et al. Among authors: ohno k. Commun Biol. 2022 May 12;5(1):453. doi: 10.1038/s42003-022-03389-7. Commun Biol. 2022. PMID: 35552531 Free PMC article.

5

A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.

Zhang S, Ohkawara B, Ito M, Huang Z, Zhao F, Nakata T, Takeuchi T, Sakurai H, Komaki H, Kamon M, Araki T, Ohno K. Zhang S, et al. Among authors: ohno k. Hum Mol Genet. 2023 Apr 20;32(9):1511-1523. doi: 10.1093/hmg/ddac306. Hum Mol Genet. 2023. PMID: 36579833 Free PMC article.

6

Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.

Farshadyeganeh P, Yamada T, Ohashi H, Nishimura G, Fujita H, Oishi Y, Nunode M, Ishikawa S, Murotsuki J, Yamashita Y, Ikegawa S, Ogi T, Arikawa-Hirasawa E, Ohno K. Farshadyeganeh P, et al. Among authors: ohno k. J Hum Genet. 2024 Feb 29. doi: 10.1038/s10038-024-01229-6. Online ahead of print. J Hum Genet. 2024. PMID: 38424183

7

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.

Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Li Y, Ogaki K, Ando M, Yoshino H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N. Funayama M, et al. Among authors: ohno k. Lancet Neurol. 2015 Mar;14(3):274-82. doi: 10.1016/S1474-4422(14)70266-2. Epub 2015 Feb 4. Lancet Neurol. 2015. PMID: 25662902

8

Randomized, double-blind, multicenter trial of hydrogen water for Parkinson's disease.

Yoritaka A, Ohtsuka C, Maeda T, Hirayama M, Abe T, Watanabe H, Saiki H, Oyama G, Fukae J, Shimo Y, Hatano T, Kawajiri S, Okuma Y, Machida Y, Miwa H, Suzuki C, Kazama A, Tomiyama M, Kihara T, Hirasawa M, Shimura H, Oda E, Ito M, Ohno K, Hattori N. Yoritaka A, et al. Among authors: ohno k. Mov Disord. 2018 Sep;33(9):1505-1507. doi: 10.1002/mds.27472. Epub 2018 Sep 12. Mov Disord. 2018. PMID: 30207619 Clinical Trial. No abstract available.

9

Neural Isoforms of Agrin Are Generated by Reduced PTBP1-RNA Interaction Network Spanning the Neuron-Specific Splicing Regions in AGRN.

Bushra S, Lin YN, Joudaki A, Ito M, Ohkawara B, Ohno K, Masuda A. Bushra S, et al. Among authors: ohno k. Int J Mol Sci. 2023 Apr 18;24(8):7420. doi: 10.3390/ijms24087420. Int J Mol Sci. 2023. PMID: 37108583 Free PMC article.

10

[Genetic defects and disorders at the neuromuscular junction].

Ohno K. Ohno K. Brain Nerve. 2011 Jul;63(7):669-78. Brain Nerve. 2011. PMID: 21747136 Review. Japanese.

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