Maruyama H - Search Results

1

Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia.

Matsuda Y, Morino H, Miyamoto R, Kurashige T, Kume K, Mizuno N, Kanaya Y, Tada Y, Ohsawa R, Yokota K, Shimozawa N, Maruyama H, Kawakami H. Matsuda Y, et al. Among authors: maruyama h. Neurol Genet. 2020 Jan 16;6(1):e396. doi: 10.1212/NXG.0000000000000396. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042923 Free PMC article.

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

A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy.

Sakai T, Antoku Y, Kawakami H, Maruyama H, Nakamura S, Tanaka K. Sakai T, et al. Among authors: maruyama h. Neurology. 1996 Apr;46(4):1154-6. doi: 10.1212/wnl.46.4.1154. Neurology. 1996. PMID: 8780110

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

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

8

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

9

Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease.

Maruyama H, Toji H, Harrington CR, Sasaki K, Izumi Y, Ohnuma T, Arai H, Yasuda M, Tanaka C, Emson PC, Nakamura S, Kawakami H. Maruyama H, et al. Arch Neurol. 2000 Feb;57(2):236-40. doi: 10.1001/archneur.57.2.236. Arch Neurol. 2000. PMID: 10681083 Clinical Trial.

10

Genetic studies in Parkinson's disease with an alpha-synuclein/NACP gene polymorphism in Japan.

Izumi Y, Morino H, Oda M, Maruyama H, Udaka F, Kameyama M, Nakamura S, Kawakami H. Izumi Y, et al. Among authors: maruyama h. Neurosci Lett. 2001 Mar 9;300(2):125-7. doi: 10.1016/s0304-3940(01)01557-9. Neurosci Lett. 2001. PMID: 11207390

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