Sasaki M - Search Results

1

A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment.

Tabata K, Ishiyama A, Nakamura Y, Sasaki M, Inoue K, Goto YI. Tabata K, et al. Among authors: sasaki m. Eur J Med Genet. 2022 Mar;65(3):104446. doi: 10.1016/j.ejmg.2022.104446. Epub 2022 Feb 5. Eur J Med Genet. 2022. PMID: 35134569

2

Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.

Shinozaki Y, Osawa M, Sakuma H, Komaki H, Nakagawa E, Sugai K, Sasaki M, Goto Y. Shinozaki Y, et al. Among authors: sasaki m. Brain Dev. 2009 Jun;31(6):469-72. doi: 10.1016/j.braindev.2008.08.006. Epub 2008 Sep 26. Brain Dev. 2009. PMID: 18823727

3

Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency.

Ide S, Sasaki M, Kato M, Shiihara T, Kinoshita S, Takahashi JY, Goto Y. Ide S, et al. Among authors: sasaki m. Brain Dev. 2010 Jun;32(6):506-10. doi: 10.1016/j.braindev.2009.05.004. Epub 2009 Jun 10. Brain Dev. 2010. PMID: 19520530

4

Activation of microglia/macrophages expressing phosphorylated S6 ribosomal protein in a case of hemimegalencephaly with progressive calcification and atrophy.

Nonoda Y, Saito Y, Itoh M, Nakagawa E, Sugai K, Takahashi A, Otsuki T, Saito Y, Arima K, Mizuguchi M, Goto Y, Sasaki M. Nonoda Y, et al. Among authors: sasaki m. J Neurol Sci. 2009 Dec 15;287(1-2):52-9. doi: 10.1016/j.jns.2009.09.010. Epub 2009 Oct 4. J Neurol Sci. 2009. PMID: 19804889

5

Abnormal maturation of non-dysmorphic neurons in focal cortical dysplasia: immunohistochemical considerations.

Hanai S, Saito T, Nakagawa E, Arai A, Otsuki T, Sasaki M, Goto Y, Itoh M. Hanai S, et al. Among authors: sasaki m. Seizure. 2010 Jun;19(5):274-9. doi: 10.1016/j.seizure.2010.04.003. Epub 2010 May 8. Seizure. 2010. PMID: 20452788 Free article.

6

Neocortical layer formation of human developing brains and lissencephalies: consideration of layer-specific marker expression.

Saito T, Hanai S, Takashima S, Nakagawa E, Okazaki S, Inoue T, Miyata R, Hoshino K, Akashi T, Sasaki M, Goto Y, Hayashi M, Itoh M. Saito T, et al. Among authors: sasaki m. Cereb Cortex. 2011 Mar;21(3):588-96. doi: 10.1093/cercor/bhq125. Epub 2010 Jul 12. Cereb Cortex. 2011. PMID: 20624841

7

Concurrence of multiple types of eyelid synkinesia in a patient with congenital anomalies.

Ishiyama A, Saito Y, Sugai K, Sasaki M, Yamazaki H, Kohama M. Ishiyama A, et al. Among authors: sasaki m. Brain Dev. 2012 Feb;34(2):140-2. doi: 10.1016/j.braindev.2011.02.007. Epub 2011 Mar 23. Brain Dev. 2012. PMID: 21435806

8

Profiles of blood biomarkers in alternating hemiplegia of childhood--increased MMP-9 and decreased substance P indicates its pathophysiology.

Inui T, Saito Y, Sakuma H, Hatakeyama H, Goto Y, Arai H, Sasaki M. Inui T, et al. Among authors: sasaki m. Brain Dev. 2012 Mar;34(3):196-200. doi: 10.1016/j.braindev.2011.04.008. Epub 2011 May 7. Brain Dev. 2012. PMID: 21550738

9

Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation.

Takeshita E, Saito Y, Nakagawa E, Komaki H, Sugai K, Sasaki M, Nezu A, Kitamura J, Itoh M, Sawano Y, Goto Y. Takeshita E, et al. Among authors: sasaki m. J Neurol Sci. 2011 Sep 15;308(1-2):168-72. doi: 10.1016/j.jns.2011.06.008. Epub 2011 Jun 30. J Neurol Sci. 2011. PMID: 21722922

10

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. Among authors: sasaki m. 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.

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