Takeguchi R - Search Results

1

MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome.

Takeguchi R, Takahashi S, Kuroda M, Tanaka R, Suzuki N, Tomonoh Y, Ihara Y, Sugiyama N, Itoh M. Takeguchi R, et al. Mol Genet Genomic Med. 2020 Feb;8(2):e1088. doi: 10.1002/mgg3.1088. Epub 2019 Dec 9. Mol Genet Genomic Med. 2020. PMID: 31816669 Free PMC article.

2

Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.

Takahashi S, Takeguchi R, Kuroda M, Tanaka R. Takahashi S, et al. Among authors: takeguchi r. Mol Genet Genomic Med. 2020 Mar;8(3):e1122. doi: 10.1002/mgg3.1122. Epub 2020 Jan 13. Mol Genet Genomic Med. 2020. PMID: 31943886 Free PMC article.

3

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: takeguchi r. 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

4

Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy.

Tanaka R, Takahashi S, Kuroda M, Takeguchi R, Suzuki N, Makita Y, Narumi-Kishimoto Y, Kaname T. Tanaka R, et al. Among authors: takeguchi r. Epileptic Disord. 2020 Aug 1;22(4):501-505. doi: 10.1684/epd.2020.1187. Epileptic Disord. 2020. PMID: 32723703

5

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. 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

6

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. Among authors: takeguchi r. 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.

7

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. Among authors: takeguchi r. 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.

8

Novel NARS2 variant causing leigh syndrome with normal lactate levels.

Tanaka R, Takeguchi R, Kuroda M, Suzuki N, Makita Y, Yanagi K, Kaname T, Takahashi S. Tanaka R, et al. Among authors: takeguchi r. Hum Genome Var. 2022 May 4;9(1):12. doi: 10.1038/s41439-022-00191-z. Hum Genome Var. 2022. PMID: 35508527 Free PMC article.

9

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. Among authors: takeguchi r. J Clin Neuromuscul Dis. 2022 Sep 1;24(1):49-54. doi: 10.1097/CND.0000000000000392. J Clin Neuromuscul Dis. 2022. PMID: 36005473 Review.

10

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. 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

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