Mori M - Search Results

1

Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination.

Shimojima K, Okamoto N, Suzuki Y, Saito M, Mori M, Yamagata T, Momoi MY, Hattori H, Okano Y, Hisata K, Okumura A, Yamamoto T. Shimojima K, et al. Among authors: mori m. J Hum Genet. 2012 Sep;57(9):593-600. doi: 10.1038/jhg.2012.77. Epub 2012 Jun 21. J Hum Genet. 2012. PMID: 22718018

2

Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1.

Li H, Yamagata T, Mori M, Momoi MY. Li H, et al. Among authors: mori m. J Hum Genet. 2002;47(5):262-5. doi: 10.1007/s100380200036. J Hum Genet. 2002. PMID: 12032595

3

RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

Nakamura M, Yamagata T, Mori M, Momoi MY. Nakamura M, et al. Among authors: mori m. Brain Dev. 2005 Mar;27(2):114-7. doi: 10.1016/j.braindev.2004.02.015. Brain Dev. 2005. PMID: 15668050

4

Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.

Li H, Yamagata T, Mori M, Momoi MY. Li H, et al. Among authors: mori m. Brain Dev. 2005 Apr;27(3):207-10. doi: 10.1016/j.braindev.2004.06.002. Brain Dev. 2005. PMID: 15737702

5

Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers.

Monden Y, Mori M, Kuwajima M, Goto T, Yamagata T, Momoi MY. Monden Y, et al. Among authors: mori m. Brain Dev. 2013 Jun;35(6):582-5. doi: 10.1016/j.braindev.2012.08.006. Epub 2012 Sep 13. Brain Dev. 2013. PMID: 22981260

6

Elastic fiber degeneration in Costello syndrome.

Mori M, Yamagata T, Mori Y, Nokubi M, Saito K, Fukushima Y, Momoi MY. Mori M, et al. Among authors: mori y. Am J Med Genet. 1996 Feb 2;61(4):304-9. doi: 10.1002/(SICI)1096-8628(19960202)61:4<304::AID-AJMG2>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8834040

7

Mutation in Parkinson disease-associated, G-protein-coupled receptor 37 (GPR37/PaelR) is related to autism spectrum disorder.

Fujita-Jimbo E, Yu ZL, Li H, Yamagata T, Mori M, Momoi T, Momoi MY. Fujita-Jimbo E, et al. Among authors: mori m. PLoS One. 2012;7(12):e51155. doi: 10.1371/journal.pone.0051155. Epub 2012 Dec 12. PLoS One. 2012. PMID: 23251443 Free PMC article.

8

Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.

Ito A, Yamagata T, Mori M, Momoi MY. Ito A, et al. Among authors: mori m. Pediatr Neurol. 2005 Jul;33(1):53-6. doi: 10.1016/j.pediatrneurol.2005.01.012. Pediatr Neurol. 2005. PMID: 15876520

9

Mutation analysis of methyl-CpG binding protein family genes in autistic patients.

Li H, Yamagata T, Mori M, Yasuhara A, Momoi MY. Li H, et al. Among authors: mori m. Brain Dev. 2005 Aug;27(5):321-5. doi: 10.1016/j.braindev.2004.08.003. Brain Dev. 2005. PMID: 15967618

10

Expression analysis and mutation detection of DLX5 and DLX6 in autism.

Nakashima N, Yamagata T, Mori M, Kuwajima M, Suwa K, Momoi MY. Nakashima N, et al. Among authors: mori m. Brain Dev. 2010 Feb;32(2):98-104. doi: 10.1016/j.braindev.2008.12.021. Epub 2009 Feb 4. Brain Dev. 2010. PMID: 19195802

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