Akaba Y - Search Results

1

Structural and functional changes in the brains of patients with Rett syndrome: A multimodal MRI study.

Takeguchi R, Kuroda M, Tanaka R, Suzuki N, Akaba Y, Tsujimura K, Itoh M, Takahashi S. Takeguchi R, et al. Among authors: akaba y. J Neurol Sci. 2022 Oct 15;441:120381. doi: 10.1016/j.jns.2022.120381. Epub 2022 Aug 18. J Neurol Sci. 2022. PMID: 36027642

2

The role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome.

Takahashi S, Tanaka R, Takeguchi R, Kuroda M, Akaba Y, Ito Y. Takahashi S, et al. Among authors: akaba y. J Neurol Sci. 2020 Sep 15;416:117041. doi: 10.1016/j.jns.2020.117041. Epub 2020 Jul 16. J Neurol Sci. 2020. PMID: 32712428

3

Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan.

Takeguchi R, Takahashi S, Akaba Y, Tanaka R, Nabatame S, Kurosawa K, Matsuishi T, Itoh M. Takeguchi R, et al. Among authors: akaba y. J Neurol Sci. 2021 Mar 15;422:117321. doi: 10.1016/j.jns.2021.117321. Epub 2021 Jan 19. J Neurol Sci. 2021. PMID: 33516938

4

Comprehensive Volumetric Analysis of Mecp2-Null Mouse Model for Rett Syndrome by T2-Weighted 3D Magnetic Resonance Imaging.

Akaba Y, Shiohama T, Komaki Y, Seki F, Ortug A, Sawada D, Uchida W, Kamagata K, Shimoji K, Aoki S, Takahashi S, Suzuki T, Natsume J, Takahashi E, Tsujimura K. Akaba Y, et al. Front Neurosci. 2022 May 10;16:885335. doi: 10.3389/fnins.2022.885335. eCollection 2022. Front Neurosci. 2022. PMID: 35620663 Free PMC article.

5

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome.

Akaba Y, Takahashi S, Takeguchi R, Tanaka R, Nabatame S, Saitsu H, Matsumoto N. Akaba Y, et al. Clin Case Rep. 2021 Feb 6;9(3):1711-1715. doi: 10.1002/ccr3.3883. eCollection 2021 Mar. Clin Case Rep. 2021. PMID: 33768920 Free PMC article.

6

A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST Gene.

Akaba Y, Takeguchi R, Tanaka R, Takahashi S. Akaba Y, et al. Case Rep Neurol. 2021 Dec 7;13(3):763-771. doi: 10.1159/000520433. eCollection 2021 Sep-Dec. Case Rep Neurol. 2021. PMID: 35082646 Free PMC article.

7

Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.

Akaba Y, Takeguchi R, Tanaka R, Makita Y, Kimura T, Yanagi K, Kaname T, Nishino I, Takahashi S. Akaba Y, et al. J Clin Neuromuscul Dis. 2022 Sep 1;24(1):49-54. doi: 10.1097/CND.0000000000000392. J Clin Neuromuscul Dis. 2022. PMID: 36005473 Review.

8

Successful treatment of normokalemic periodic paralysis with hydrochlorothiazide.

Akaba Y, Takahashi S, Sasaki Y, Kajino H. Akaba Y, et al. Brain Dev. 2018 Oct;40(9):833-836. doi: 10.1016/j.braindev.2018.05.011. Epub 2018 Jun 12. Brain Dev. 2018. PMID: 29907477

9

Refeeding syndrome in a 12-year-old girl with distal renal tubular acidosis.

Sasaki Y, Akaba Y, Kajino H. Sasaki Y, et al. Among authors: akaba y. Clin Case Rep. 2020 Aug 20;8(12):2682-2684. doi: 10.1002/ccr3.3270. eCollection 2020 Dec. Clin Case Rep. 2020. PMID: 33363804 Free PMC article.

10

Neurophysiological and brain structural insights into cyclin-dependent kinase-like 5 deficiency disorder: Visual and auditory evoked potentials and MRI analysis.

Takeguchi R, Akaba Y, Kuroda M, Tanaka R, Tanaka T, Itoh M, Takahashi S. Takeguchi R, et al. Among authors: akaba y. J Neurol Sci. 2024 Jun 15;461:123063. doi: 10.1016/j.jns.2024.123063. Epub 2024 May 24. J Neurol Sci. 2024. PMID: 38820769

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