Tanaka R - Search Results

1

Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence.

Takahashi S, Tanaka R, Okano S, Okayama A, Suzuki N, Azuma H. Takahashi S, et al. Among authors: tanaka r. Mol Cytogenet. 2015 Oct 31;8:84. doi: 10.1186/s13039-015-0186-8. eCollection 2015. Mol Cytogenet. 2015. PMID: 26523152 Free PMC article.

2

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. Among authors: tanaka r. 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.

3

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: tanaka 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.

4

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: tanaka r. 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

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. Among authors: tanaka 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.

6

Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures.

Takahashi S, Yamamoto S, Tanaka R, Okayama A, Araki A, Azuma H. Takahashi S, et al. Among authors: tanaka r. Epilepsy Behav Case Rep. 2015 Jun 25;4:35-7. doi: 10.1016/j.ebcr.2015.06.006. eCollection 2015. Epilepsy Behav Case Rep. 2015. PMID: 26155465 Free PMC article.

7

Congenital basal meningoceles with different outcomes: a case series.

Okano S, Tanaka R, Okayama A, Tsuchida E, Nohara F, Suzuki N, Okamoto T, Nagaya K, Takahashi S, Azuma H. Okano S, et al. Among authors: tanaka r. J Med Case Rep. 2017 Dec 27;11(1):359. doi: 10.1186/s13256-017-1497-7. J Med Case Rep. 2017. PMID: 29279052 Free PMC article.

8

Evolution into moyamoya disease in an infant with internal carotid artery aneurysms.

Tanaka R, Takahashi S, Okano S, Okayama A, Suzuki N, Kure S, Azuma H. Tanaka R, et al. eNeurologicalSci. 2017 Jan 31;6:80-82. doi: 10.1016/j.ensci.2017.01.002. eCollection 2017 Mar. eNeurologicalSci. 2017. PMID: 29260015 Free PMC article.

9

Genetic point-of-care diagnosis of Mycoplasma pneumoniae infection using LAMP assay.

Kakuya F, Kinebuchi T, Fujiyasu H, Tanaka R, Kano H. Kakuya F, et al. Among authors: tanaka r. Pediatr Int. 2014 Aug;56(4):547-52. doi: 10.1111/ped.12327. Epub 2014 May 30. Pediatr Int. 2014. PMID: 24612134

10

Human herpesvirus-6 infection-associated acute encephalopathy without skin rash.

Yamamoto S, Takahashi S, Tanaka R, Okayama A, Araki A, Katano H, Tanaka-Taya K, Azuma H. Yamamoto S, et al. Among authors: tanaka taya k, tanaka r. Brain Dev. 2015 Sep;37(8):829-32. doi: 10.1016/j.braindev.2014.12.005. Epub 2015 Jan 9. Brain Dev. 2015. PMID: 25582898

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