Hirose S - Search Results

1

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.

Momosaki K, Kido J, Yoshida S, Sugawara K, Miyamoto T, Inoue T, Okumiya T, Matsumoto S, Endo F, Hirose S, Nakamura K. Momosaki K, et al. Among authors: hirose s. J Hum Genet. 2019 Aug;64(8):741-755. doi: 10.1038/s10038-019-0603-7. Epub 2019 May 10. J Hum Genet. 2019. PMID: 31076647 Review.

2

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, Ohfu M, Inoue T, Watanachai A, Kira R, Matsuo M, Muranaka H, Sofue F, Zhang B, Kaneko S, Mitsudome A, Hirose S. Fukuma G, et al. Among authors: hirose s. Epilepsia. 2004 Feb;45(2):140-8. doi: 10.1111/j.0013-9580.2004.15103.x. Epilepsia. 2004. PMID: 14738421 Free article.

3

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

Singh S, Suzuki T, Uchiyama A, Kumada S, Moriyama N, Hirose S, Takahashi Y, Sugie H, Mizoguchi K, Inoue Y, Kimura K, Sawaishi Y, Yamakawa K, Ganesh S. Singh S, et al. Among authors: hirose s. J Hum Genet. 2005;50(7):347-352. doi: 10.1007/s10038-005-0263-7. Epub 2005 Jul 15. J Hum Genet. 2005. PMID: 16021330

4

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy.

Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S. Wang JW, et al. Among authors: hirose s. Epilepsia. 2008 Sep;49(9):1528-34. doi: 10.1111/j.1528-1167.2008.01609.x. Epub 2008 Apr 21. Epilepsia. 2008. PMID: 18479393 Free article.

5

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.

Ishii A, Fukuma G, Uehara A, Miyajima T, Makita Y, Hamachi A, Yasukochi M, Inoue T, Yasumoto S, Okada M, Kaneko S, Mitsudome A, Hirose S. Ishii A, et al. Among authors: hirose s. Brain Dev. 2009 Jan;31(1):27-33. doi: 10.1016/j.braindev.2008.05.010. Epub 2008 Jul 21. Brain Dev. 2009. PMID: 18640800

6

Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

Shi X, Huang MC, Ishii A, Yoshida S, Okada M, Morita K, Nagafuji H, Yasumoto S, Kaneko S, Kojima T, Hirose S. Shi X, et al. Among authors: hirose s. J Hum Genet. 2010 Jun;55(6):375-8. doi: 10.1038/jhg.2010.47. Epub 2010 May 20. J Hum Genet. 2010. PMID: 20485450

7

Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.

Hwang SK, Makita Y, Kurahashi H, Cho YW, Hirose S. Hwang SK, et al. Among authors: hirose s. J Hum Genet. 2011 Aug;56(8):609-12. doi: 10.1038/jhg.2011.69. Epub 2011 Jul 14. J Hum Genet. 2011. PMID: 21753767

8

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.

Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N. Ono S, et al. Among authors: hirose s. J Hum Genet. 2012 May;57(5):338-41. doi: 10.1038/jhg.2012.23. Epub 2012 Mar 8. J Hum Genet. 2012. PMID: 22399141

9

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.

Shimojima K, Inoue T, Imai Y, Arai Y, Komoike Y, Sugawara M, Fujita T, Ideguchi H, Yasumoto S, Kanno H, Hirose S, Yamamoto T. Shimojima K, et al. Among authors: hirose s. J Hum Genet. 2012 Sep;57(9):580-6. doi: 10.1038/jhg.2012.71. Epub 2012 Jun 14. J Hum Genet. 2012. PMID: 22695888

10

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.

Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, Ohfu M, Yamashita Y, Takatsuka H, Taga T, Miyata R, Ito M, Tsuchiya H, Matsuoka T, Kitao T, Murakami K, Lee WT, Kaneko S, Hirose S. Ishii A, et al. Among authors: hirose s. Brain Dev. 2013 Jun;35(6):524-30. doi: 10.1016/j.braindev.2012.09.006. Epub 2012 Oct 13. Brain Dev. 2013. PMID: 23073245

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

2,057 results

Search Page