Saitoh S - Search Results

1

Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM.

Nakamura K, Inui T, Miya F, Kanemura Y, Okamoto N, Saitoh S, Yamasaki M, Tsunoda T, Kosaki K, Tanaka S, Kato M. Nakamura K, et al. Among authors: saitoh s. Pediatr Neurol. 2015 May;52(5):e7-8. doi: 10.1016/j.pediatrneurol.2015.01.019. Epub 2015 Feb 7. Pediatr Neurol. 2015. PMID: 25765464 No abstract available.

2

Phenotypic variability in a family with a mitochondrial DNA T8993C mutation.

Suzuki Y, Wada T, Sakai T, Ishikawa Y, Minami R, Tachi N, Saitoh S. Suzuki Y, et al. Among authors: saitoh s. Pediatr Neurol. 1998 Oct;19(4):283-6. doi: 10.1016/s0887-8994(98)00070-8. Pediatr Neurol. 1998. PMID: 9830999

3

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).

Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K. Kato M, et al. Among authors: saitoh s. Am J Hum Genet. 2007 Aug;81(2):361-6. doi: 10.1086/518903. Epub 2007 Jun 11. Am J Hum Genet. 2007. PMID: 17668384 Free PMC article.

4

Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype.

Hosoki K, Kagami M, Tanaka T, Kubota M, Kurosawa K, Kato M, Uetake K, Tohyama J, Ogata T, Saitoh S. Hosoki K, et al. Among authors: saitoh s. J Pediatr. 2009 Dec;155(6):900-903.e1. doi: 10.1016/j.jpeds.2009.06.045. Epub 2009 Oct 1. J Pediatr. 2009. PMID: 19800077

5

Inflammatory changes in infantile-onset LMNA-associated myopathy.

Komaki H, Hayashi YK, Tsuburaya R, Sugie K, Kato M, Nagai T, Imataka G, Suzuki S, Saitoh S, Asahina N, Honke K, Higuchi Y, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nonaka I, Nishino I. Komaki H, et al. Among authors: saitoh s. Neuromuscul Disord. 2011 Aug;21(8):563-8. doi: 10.1016/j.nmd.2011.04.010. Epub 2011 May 31. Neuromuscul Disord. 2011. PMID: 21632249

6

Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.

Takenouchi T, Yagihashi T, Tsuchiya H, Torii C, Hayashi K, Kosaki R, Saitoh S, Takahashi T, Kosaki K. Takenouchi T, et al. Among authors: saitoh s. Am J Med Genet A. 2012 Oct;158A(10):2621-3. doi: 10.1002/ajmg.a.35230. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887345 No abstract available.

7

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H. Yoneda Y, et al. Among authors: saitoh s. Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7. Ann Neurol. 2013. PMID: 23225343

8

[Questionnaire survey conducted on the parents of patients with spinal muscular atrophy type 1 in Japan regarding switch devices, language development, upper extremity function and QOL].

Sakai S, Maki M, Sakai N, Sudoh A, Kato M, Saitoh S. Sakai S, et al. Among authors: saitoh s. No To Hattatsu. 2012 Nov;44(6):465-71. No To Hattatsu. 2012. PMID: 23240528 Japanese.

9

Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.

Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Shimizu A, Torii C, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: saitoh s. Clin Genet. 2015 Sep;88(3):288-92. doi: 10.1111/cge.12492. Epub 2014 Nov 13. Clin Genet. 2015. PMID: 25156961

10

Thalamic lesions in acute encephalopathy with biphasic seizures and late reduced diffusion.

Kurahashi N, Tsuji T, Kato T, Ogaya S, Umemura A, Yamada K, Kurahashi H, Maruyama K, Takeuchi T, Kubota T, Saitoh S, Natsume J, Okumura A. Kurahashi N, et al. Among authors: saitoh s. Pediatr Neurol. 2014 Nov;51(5):701-5. doi: 10.1016/j.pediatrneurol.2014.07.013. Epub 2014 Jul 16. Pediatr Neurol. 2014. PMID: 25193414

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