Maruyama H - Search Results

1

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. Among authors: maruyama h. 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

2

Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR.

Maruyama H, Kawakami H, Nakamura S. Maruyama H, et al. Hum Genet. 1996 May;97(5):591-5. doi: 10.1007/BF02281866. Hum Genet. 1996. PMID: 8655136

3

Cloning and expression of a rat brain basic helix-loop-helix factor.

Kawakami H, Maruyama H, Yasunami M, Ohkubo H, Hara H, Saida T, Nakanishi S, Nakamura S. Kawakami H, et al. Among authors: maruyama h. Biochem Biophys Res Commun. 1996 Apr 5;221(1):199-204. doi: 10.1006/bbrc.1996.0569. Biochem Biophys Res Commun. 1996. PMID: 8660336

4

[Molecular genetics of Machado-Joseph disease].

Kawakami H, Maruyama H, Nakamura S. Kawakami H, et al. Among authors: maruyama h. Nihon Rinsho. 1996 Mar;54(3):854-60. Nihon Rinsho. 1996. PMID: 8904248 Review. Japanese.

5

Homozygosity for an allele carrying intermediate CAG repeats in the dentatorubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia.

Kurohara K, Kuroda Y, Maruyama H, Kawakami H, Yukitake M, Matsui M, Nakamura S. Kurohara K, et al. Among authors: maruyama h. Neurology. 1997 Apr;48(4):1087-90. doi: 10.1212/wnl.48.4.1087. Neurology. 1997. PMID: 9109905

6

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6).

Matsuyama Z, Kawakami H, Maruyama H, Izumi Y, Komure O, Udaka F, Kameyama M, Nishio T, Kuroda Y, Nishimura M, Nakamura S. Matsuyama Z, et al. Among authors: maruyama h. Hum Mol Genet. 1997 Aug;6(8):1283-7. doi: 10.1093/hmg/6.8.1283. Hum Mol Genet. 1997. PMID: 9259274

7

CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification.

Maruyama H, Kawakami H, Kohriyama T, Sakai T, Doyu M, Sobue G, Seto M, Tsujihata M, Oh-i T, Nishio T, Sunohara N, Takahashi R, Ohtake T, Hayashi M, Nishimura M, Saida T, Abe K, Itoyama Y, Matsumoto H, Nakamura S. Maruyama H, et al. J Neurol Sci. 1997 Nov 25;152(2):166-71. doi: 10.1016/s0022-510x(97)00155-x. J Neurol Sci. 1997. PMID: 9415538

8

Characteristic magnetic resonance imaging findings in Machado-Joseph disease.

Murata Y, Yamaguchi S, Kawakami H, Imon Y, Maruyama H, Sakai T, Kazuta T, Ohtake T, Nishimura M, Saida T, Chiba S, Oh-i T, Nakamura S. Murata Y, et al. Among authors: maruyama h. Arch Neurol. 1998 Jan;55(1):33-7. doi: 10.1001/archneur.55.1.33. Arch Neurol. 1998. PMID: 9443709

9

Apolipoprotein E promoter polymorphism and sporadic Alzheimer's disease in a Japanese population.

Toji H, Maruyama H, Sasaki K, Nakamura S, Kawakami H. Toji H, et al. Among authors: maruyama h. Neurosci Lett. 1999 Jan 4;259(1):56-8. doi: 10.1016/s0304-3940(98)00855-6. Neurosci Lett. 1999. PMID: 10027555

10

Structure and regulation of the human NeuroD (BETA2/BHF1) gene.

Miyachi T, Maruyama H, Kitamura T, Nakamura S, Kawakami H. Miyachi T, et al. Among authors: maruyama h. Brain Res Mol Brain Res. 1999 Jun 8;69(2):223-31. doi: 10.1016/s0169-328x(99)00112-6. Brain Res Mol Brain Res. 1999. PMID: 10366743

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