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MR findings of spinal muscular atrophy Type II: sibling cases.
Ueno T, Yoshioka H, Iwasaki N, Tanaka R, Saida Y. Ueno T, et al. Among authors: tanaka r. Magn Reson Med Sci. 2003 Dec 31;2(4):195-8. doi: 10.2463/mrms.2.195. Magn Reson Med Sci. 2003. PMID: 16222114 Free article.
Schuurs-Hoeijmakers syndrome in two patients from Japan.
Hoshino Y, Enokizono T, Imagawa K, Tanaka R, Suzuki H, Fukushima H, Arai J, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. Hoshino Y, et al. Among authors: tanaka r. Am J Med Genet A. 2019 Mar;179(3):341-343. doi: 10.1002/ajmg.a.9. Epub 2018 Dec 27. Am J Med Genet A. 2019. PMID: 30588754
Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series.
Sasaki M, Okanishi T, Matsuoka T, Yoshimura A, Maruyama S, Shiohama T, Hoshino H, Mori T, Majima H, Matsumoto H, Kobayashi S, Chiyonobu T, Matsushige T, Nakamura K, Kubota K, Tanaka R, Fujita T, Enoki H, Suzuki Y, Nakamura S, Fujimoto A, Maegaki Y. Sasaki M, et al. Among authors: tanaka r. Pediatr Neurol. 2024 Aug;157:29-38. doi: 10.1016/j.pediatrneurol.2024.05.007. Epub 2024 May 15. Pediatr Neurol. 2024. PMID: 38848614
Acute encephalopathy in children with tuberous sclerosis complex.
Numoto S, Kurahashi H, Sato A, Kubota M, Shiihara T, Okanishi T, Tanaka R, Kuki I, Fukuyama T, Kashiwagi M, Ikeno M, Kubota K, Akasaka M, Mimaki M, Okumura A. Numoto S, et al. Among authors: tanaka r. Orphanet J Rare Dis. 2021 Jan 6;16(1):5. doi: 10.1186/s13023-020-01646-8. Orphanet J Rare Dis. 2021. PMID: 33407677 Free PMC article.
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N, Saitsu H. Aoto K, et al. Among authors: tanaka r. Nat Commun. 2021 Apr 8;12(1):2107. doi: 10.1038/s41467-021-22389-5. Nat Commun. 2021. PMID: 33833240 Free PMC article.
4,622 results