Miyamoto R - Search Results

1

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.

Kume K, Morino H, Miyamoto R, Matsuda Y, Ohsawa R, Kanaya Y, Tada Y, Kurashige T, Kawakami H. Kume K, et al. Among authors: miyamoto r. BMC Med Genet. 2020 Mar 31;21(1):68. doi: 10.1186/s12881-020-01002-4. BMC Med Genet. 2020. PMID: 32234020 Free PMC article.

2

The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients.

Sugihara K, Maruyama H, Morino H, Miyamoto R, Ueno H, Matsumoto M, Kaji R, Kitaguchi H, Yukitake M, Higashi Y, Nishinaka K, Oda M, Izumi Y, Kawakami H. Sugihara K, et al. Among authors: miyamoto r. Mov Disord. 2012 Aug;27(9):1158-63. doi: 10.1002/mds.25092. Epub 2012 Jul 2. Mov Disord. 2012. PMID: 22753339

3

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.

Izumi Y, Miyamoto R, Morino H, Yoshizawa A, Nishinaka K, Udaka F, Kameyama M, Maruyama H, Kawakami H. Izumi Y, et al. Among authors: miyamoto r. Neurology. 2013 Feb 5;80(6):600-1. doi: 10.1212/WNL.0b013e3182815529. Epub 2013 Jan 16. Neurology. 2013. PMID: 23325900 No abstract available.

4

Oromandibular dystonia associated with SCA36.

Miyashiro A, Sugihara K, Kawarai T, Miyamoto R, Izumi Y, Morino H, Maruyama H, Orlacchio A, Kawakami H, Kaji R. Miyashiro A, et al. Among authors: miyamoto r. Mov Disord. 2013 Apr;28(4):558-9. doi: 10.1002/mds.25304. Epub 2013 Feb 6. Mov Disord. 2013. PMID: 23390045 No abstract available.

5

Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.

Maruyama H, Morino H, Miyamoto R, Murakami N, Hamano T, Kawakami H. Maruyama H, et al. Among authors: miyamoto r. Clin Genet. 2014 Mar;85(3):296-7. doi: 10.1111/cge.12140. Epub 2013 Apr 4. Clin Genet. 2014. PMID: 23551081 No abstract available.

6

DYT6 in Japan-genetic screening and clinical characteristics of the patients.

Miyamoto R, Koizumi H, Morino H, Kawarai T, Maruyama H, Mukai Y, Miyashiro A, Sako W, Izumi Y, Kawakami H, Kaji R. Miyamoto R, et al. Mov Disord. 2014 Feb;29(2):278-80. doi: 10.1002/mds.25745. Epub 2013 Nov 13. Mov Disord. 2014. PMID: 24227593 No abstract available.

7

Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.

Miyamoto R, Morino H, Yoshizawa A, Miyazaki Y, Maruyama H, Murakami N, Fukada K, Izumi Y, Matsuura S, Kaji R, Kawakami H. Miyamoto R, et al. J Neurol Sci. 2014 Feb 15;337(1-2):219-23. doi: 10.1016/j.jns.2013.11.032. Epub 2013 Dec 1. J Neurol Sci. 2014. PMID: 24332946

8

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.

Morino H, Miyamoto R, Ohnishi S, Maruyama H, Kawakami H. Morino H, et al. Among authors: miyamoto r. BMC Neurol. 2014 Jan 7;14:5. doi: 10.1186/1471-2377-14-5. BMC Neurol. 2014. PMID: 24397319 Free PMC article.

9

Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing.

Yagi R, Miyamoto R, Morino H, Izumi Y, Kuramochi M, Kurashige T, Maruyama H, Mizuno N, Kurihara H, Kawakami H. Yagi R, et al. Among authors: miyamoto r. Neurobiol Aging. 2014 Jul;35(7):1780.e1-5. doi: 10.1016/j.neurobiolaging.2014.01.023. Epub 2014 Jan 25. Neurobiol Aging. 2014. PMID: 24559647

10

Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations.

Saji N, Kawarai T, Miyamoto R, Sato T, Morino H, Orlacchio A, Oki R, Kimura K, Kaji R. Saji N, et al. Among authors: miyamoto r. J Neurol Sci. 2015 May 15;352(1-2):29-33. doi: 10.1016/j.jns.2015.02.007. Epub 2015 Apr 2. J Neurol Sci. 2015. PMID: 25868896

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