Aihara Y - Search Results

1

Initial vasodilatation in a child with reversible cerebral vasoconstriction syndrome.

Oikawa Y, Okubo Y, Numata-Uematsu Y, Aihara Y, Kitamura T, Takayanagi M, Takahashi Y, Kure S, Uematsu M. Oikawa Y, et al. Among authors: aihara y. J Clin Neurosci. 2017 May;39:108-110. doi: 10.1016/j.jocn.2017.01.010. Epub 2017 Feb 10. J Clin Neurosci. 2017. PMID: 28209305

2

Behavioral problems and family distress in tuberous sclerosis complex.

Uematsu M, Numata-Uematsu Y, Aihara Y, Kobayashi T, Fujikawa M, Togashi N, Shiihara T, Ohashi K, Hattori A, Saitoh S, Kure S. Uematsu M, et al. Among authors: aihara y. Epilepsy Behav. 2020 Oct;111:107321. doi: 10.1016/j.yebeh.2020.107321. Epub 2020 Jul 19. Epilepsy Behav. 2020. PMID: 32698109

3

A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder.

Iwafuchi S, Kikuchi A, Endo W, Inui T, Aihara Y, Satou K, Kaname T, Kure S. Iwafuchi S, et al. Among authors: aihara y. Brain Dev. 2021 Feb;43(2):303-307. doi: 10.1016/j.braindev.2020.09.015. Epub 2020 Oct 21. Brain Dev. 2021. PMID: 33097317

4

Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant.

Izumi T, Aihara Y, Kikuchi A, Kure S. Izumi T, et al. Among authors: aihara y. Brain Dev. 2021 May;43(5):652-656. doi: 10.1016/j.braindev.2020.12.020. Epub 2021 Jan 22. Brain Dev. 2021. PMID: 33494955

5

The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation.

Abe Y, Aihara Y, Endo W, Hasegawa H, Ichida K, Uematsu M, Kure S. Abe Y, et al. Among authors: aihara y. Mol Genet Metab Rep. 2021 Feb 1;26:100716. doi: 10.1016/j.ymgmr.2021.100716. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33552910 Free PMC article.

6

The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.

Katata Y, Uneoka S, Saijyo N, Aihara Y, Miyazoe T, Koyamaishi S, Oikawa Y, Ito Y, Abe Y, Numata-Uematsu Y, Takayama J, Kikuchi A, Tamiya G, Uematsu M, Kure S. Katata Y, et al. Among authors: aihara y. Am J Med Genet A. 2022 Apr;188(4):1293-1298. doi: 10.1002/ajmg.a.62629. Epub 2021 Dec 31. Am J Med Genet A. 2022. PMID: 34971077

7

A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.

Aihara Y, Shirota M, Kikuchi A, Katata Y, Abe Y, Niihori T, Funayama R, Nakayama K, Aoki Y, Kure S. Aihara Y, et al. J Hum Genet. 2023 Jan;68(1):51-54. doi: 10.1038/s10038-022-01082-5. Epub 2022 Sep 27. J Hum Genet. 2023. PMID: 36167772

8

Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.

Okubo Y, Shibuya M, Nakamura H, Kawashima A, Kodama K, Endo W, Inui T, Togashi N, Aihara Y, Shirota M, Funayama R, Niihori T, Fujita A, Nakayama K, Aoki Y, Matsumoto N, Kure S, Kikuchi A, Haginoya K. Okubo Y, et al. Among authors: aihara y. Brain Dev. 2023 Oct;45(9):505-511. doi: 10.1016/j.braindev.2023.06.009. Epub 2023 Jul 12. Brain Dev. 2023. PMID: 37442734

9

Long-term clinical observation of patients with heterozygous KIF1A variants.

Kawashima A, Kodama K, Okubo Y, Endo W, Inui T, Ikeda M, Katata Y, Togashi N, Ohba C, Imagawa E, Iwama K, Mizuguchi T, Kitami M, Aihara Y, Takayama J, Tamiya G, Kikuchi A, Kure S, Saitsu H, Matsumoto N, Haginoya K. Kawashima A, et al. Among authors: aihara y. Am J Med Genet A. 2024 Oct;194(10):e63656. doi: 10.1002/ajmg.a.63656. Epub 2024 May 17. Am J Med Genet A. 2024. PMID: 38760879

10

A Case of Arterial Bypass for Extensive Stenosis of the Ulnar Artery and Superficial Palmar Arch due to Hypothenar Hammer Syndrome.

Tamura F, Sasaki K, Oshima J, Shibuya Y, Sasaki M, Aihara Y, Sekido M. Tamura F, et al. Among authors: aihara y. Ann Vasc Dis. 2024 Dec 25;17(4):405-408. doi: 10.3400/avd.cr.24-00060. Epub 2024 Sep 10. Ann Vasc Dis. 2024. PMID: 39726542 Free PMC article.

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