Saitsu H - Search Results

1

A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis.

Yoneno S, Yamamoto K, Tabata K, Shimizu-Motohashi Y, Tomita A, Hayashi T, Maki H, Sato N, Inoue K, Saitsu H, Komaki H. Yoneno S, et al. Among authors: saitsu h. J Hum Genet. 2024 Nov;69(11):607-611. doi: 10.1038/s10038-024-01268-z. Epub 2024 Jul 1. J Hum Genet. 2024. PMID: 38951194

2

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.

Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N. Saitsu H, et al. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j.ajhg.2011.10.003. Epub 2011 Oct 27. Am J Hum Genet. 2011. PMID: 22036171 Free PMC article.

3

Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.

Takanashi J, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M, Nomura Y, Terao Y, Inoue K, Matsumoto N, Barkovich AJ. Takanashi J, et al. Among authors: saitsu h. Brain Dev. 2014 Mar;36(3):259-63. doi: 10.1016/j.braindev.2013.03.006. Epub 2013 May 3. Brain Dev. 2014. PMID: 23643445

4

[Clinical and molecular manifestations of congenital cerebral hypomyelination].

Osaka H, Inoue K, Saitsu H. Osaka H, et al. Among authors: saitsu h. No To Hattatsu. 2013 Mar;45(2):127-31. No To Hattatsu. 2013. PMID: 23650817 Review. Japanese. No abstract available.

5

Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation.

Kubota K, Saito Y, Ohba C, Saitsu H, Fukuyama T, Ishiyama A, Saito T, Komaki H, Nakagawa E, Sugai K, Sasaki M, Matsumoto N. Kubota K, et al. Among authors: saitsu h. Brain Dev. 2015 Jan;37(1):158-62. doi: 10.1016/j.braindev.2014.03.001. Epub 2014 Mar 28. Brain Dev. 2015. PMID: 24685771

6

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N. Saitsu H, et al. J Hum Genet. 2014 Oct;59(10):581-3. doi: 10.1038/jhg.2014.71. Epub 2014 Aug 7. J Hum Genet. 2014. PMID: 25102098

7

Novel compound heterozygous LIAS mutations cause glycine encephalopathy.

Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N. Tsurusaki Y, et al. Among authors: saitsu h. J Hum Genet. 2015 Oct;60(10):631-5. doi: 10.1038/jhg.2015.72. Epub 2015 Jun 25. J Hum Genet. 2015. PMID: 26108146

8

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

Ohba C, Haginoya K, Osaka H, Kubota K, Ishiyama A, Hiraide T, Komaki H, Sasaki M, Miyatake S, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N. Ohba C, et al. Among authors: saitsu h. J Hum Genet. 2015 Dec;60(12):739-42. doi: 10.1038/jhg.2015.108. Epub 2015 Sep 10. J Hum Genet. 2015. PMID: 26354034

9

Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

Fujita A, Waga C, Hachiya Y, Kurihara E, Kumada S, Takeshita E, Nakagawa E, Inoue K, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Goto YI, Miyake N, Matsumoto N. Fujita A, et al. Among authors: saitsu h. Clin Genet. 2016 Sep;90(3):276-81. doi: 10.1111/cge.12767. Epub 2016 Mar 23. Clin Genet. 2016. PMID: 26919706

10

WDR45 mutations in three male patients with West syndrome.

Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N. Nakashima M, et al. Among authors: saitsu h. J Hum Genet. 2016 Jul;61(7):653-61. doi: 10.1038/jhg.2016.27. Epub 2016 Mar 31. J Hum Genet. 2016. PMID: 27030146 Review.

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