Sakoe K - Search Results

1

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.

Shimazaki H, Takiyama Y, Sakoe K, Ikeguchi K, Niijima K, Kaneko J, Namekawa M, Ogawa T, Date H, Tsuji S, Nakano I, Nishizawa M. Shimazaki H, et al. Among authors: sakoe k. Neurology. 2002 Aug 27;59(4):590-5. doi: 10.1212/wnl.59.4.590. Neurology. 2002. PMID: 12196655

2

Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.

Namekawa M, Takiyama Y, Aoki Y, Takayashiki N, Sakoe K, Shimazaki H, Taguchi T, Tanaka Y, Nishizawa M, Saito K, Matsubara Y, Nakano I. Namekawa M, et al. Among authors: sakoe k. Ann Neurol. 2002 Dec;52(6):779-85. doi: 10.1002/ana.10375. Ann Neurol. 2002. PMID: 12447932

3

Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature.

Namekawa M, Takiyama Y, Honda J, Shimazaki H, Sakoe K, Nakano I. Namekawa M, et al. Among authors: sakoe k. BMC Neurol. 2010 Apr 1;10:21. doi: 10.1186/1471-2377-10-21. BMC Neurol. 2010. PMID: 20359319 Free PMC article. Review.

4

Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene.

Takiyama Y, Sakoe K, Nakano I, Nishizawa M. Takiyama Y, et al. Among authors: sakoe k. Neurology. 1997 Aug;49(2):604-6. doi: 10.1212/wnl.49.2.604. Neurology. 1997. PMID: 9270607

5

A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene.

Takiyama Y, Sakoe K, Namekawa M, Soutome M, Esumi E, Ogawa T, Ishikawa K, Mizusawa H, Nakano I, Nishizawa M. Takiyama Y, et al. Among authors: sakoe k. J Neurol Sci. 1998 Jun 30;158(2):141-7. doi: 10.1016/s0022-510x(98)00108-7. J Neurol Sci. 1998. PMID: 9702684

6

Choreiform movements in spinocerebellar ataxia type 1.

Namekawa M, Takiyama Y, Ando Y, Sakoe K, Muramatsu SI, Fujimoto KI, Nishizawa M, Nakano I. Namekawa M, et al. Among authors: sakoe k. J Neurol Sci. 2001 Jun 15;187(1-2):103-6. doi: 10.1016/s0022-510x(01)00527-5. J Neurol Sci. 2001. PMID: 11440752

7

A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity.

Namekawa M, Takiyama Y, Sakoe K, Nagaki H, Shimazaki H, Yoshimura M, Ikeguchi K, Nakano I, Nishizawa M. Namekawa M, et al. Among authors: sakoe k. Acta Neurol Scand. 2002 Dec;106(6):387-91. doi: 10.1034/j.1600-0404.2002.01254.x. Acta Neurol Scand. 2002. PMID: 12460147

8

Identification of a SACS gene missense mutation in ARSACS.

Ogawa T, Takiyama Y, Sakoe K, Mori K, Namekawa M, Shimazaki H, Nakano I, Nishizawa M. Ogawa T, et al. Among authors: sakoe k. Neurology. 2004 Jan 13;62(1):107-9. doi: 10.1212/01.wnl.0000099371.14478.73. Neurology. 2004. PMID: 14718708

9

A phenotype without spasticity in sacsin-related ataxia.

Shimazaki H, Takiyama Y, Sakoe K, Ando Y, Nakano I. Shimazaki H, et al. Among authors: sakoe k. Neurology. 2005 Jun 28;64(12):2129-31. doi: 10.1212/01.WNL.0000166031.91514.B3. Neurology. 2005. PMID: 15985586

10

Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon.

Ouyang Y, Takiyama Y, Sakoe K, Shimazaki H, Ogawa T, Nagano S, Yamamoto Y, Nakano I. Ouyang Y, et al. Among authors: sakoe k. Neurology. 2006 Apr 11;66(7):1103-4. doi: 10.1212/01.wnl.0000204300.94261.ea. Neurology. 2006. PMID: 16606928

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