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2018 1
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2020 5
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2022 4
2023 2
2024 0

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15 results

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Page 1
CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism.
Takahashi S, Takeguchi R, Tanaka R, Fukuoka M, Koike T, Ohtani H, Inoue K, Fukuda M, Kurahashi H, Nakamura K, Tominaga K, Matsubayashi T, Itoh M, Tanaka T. Takahashi S, et al. Among authors: takeguchi r. J Neurol Sci. 2022 Dec 15;443:120498. doi: 10.1016/j.jns.2022.120498. Epub 2022 Nov 16. J Neurol Sci. 2022. PMID: 36417806
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.
A novel HECW2 variant in an infant with congenital long QT syndrome.
Imanishi R, Nakau K, Shimada S, Oka H, Takeguchi R, Tanaka R, Sugiyama T, Nii M, Okamoto T, Nagaya K, Makita Y, Yanagi K, Kaname T, Takahashi S. Imanishi R, et al. Among authors: takeguchi r. Hum Genome Var. 2023 Jun 6;10(1):17. doi: 10.1038/s41439-023-00245-w. Hum Genome Var. 2023. PMID: 37280227 Free PMC article.
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Trivisano M, Ferretti A, Bebin E, Huh L, Lesca G, Siekierska A, Takeguchi R, Carneiro M, De Palma L, Guella I, Haginoya K, Shi RM, Kikuchi A, Kobayashi T, Jung J, Lagae L, Milh M, Mathieu ML, Minassian BA, Novelli A, Pietrafusa N, Takeshita E, Tartaglia M, Terracciano A, Thompson ML, Cooper GM, Vigevano F, Villard L, Villeneuve N, Buyse GM, Demos M, Scheffer IE, Specchio N. Trivisano M, et al. Among authors: takeguchi r. Epilepsia. 2020 Jul;61(7):e71-e78. doi: 10.1111/epi.16582. Epub 2020 Jul 9. Epilepsia. 2020. PMID: 32645220 Free PMC article.
15 results