Sakoe K - Search Results

1

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).

Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I; Japan Spastic Paraplegia Research Consortium (JASPAC). Shimazaki H, et al. Among authors: sakoe k. J Med Genet. 2012 Dec;49(12):777-84. doi: 10.1136/jmedgenet-2012-101212. J Med Genet. 2012. PMID: 23188110

2

An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.

Shimazaki H, Sakoe K, Niijima K, Nakano I, Takiyama Y. Shimazaki H, et al. Among authors: sakoe k. J Neurol Sci. 2007 Apr 15;255(1-2):87-9. doi: 10.1016/j.jns.2007.02.002. Epub 2007 Mar 8. J Neurol Sci. 2007. PMID: 17349660

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

A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy.

Namekawa M, Takiyama Y, Honda J, Sakoe K, Naoi T, Shimazaki H, Yamagata T, Momoi MY, Nakano I. Namekawa M, et al. Among authors: sakoe k. Neurol Sci. 2012 Dec;33(6):1389-92. doi: 10.1007/s10072-011-0902-z. Epub 2011 Dec 24. Neurol Sci. 2012. PMID: 22198646 Free PMC article.

5

Middle cerebellar peduncles and Pontine T2 hypointensities in ARSACS.

Shimazaki H, Takiyama Y, Honda J, Sakoe K, Namekawa M, Tsugawa J, Tsuboi Y, Suzuki C, Baba M, Nakano I. Shimazaki H, et al. Among authors: sakoe k. J Neuroimaging. 2013 Jan;23(1):82-5. doi: 10.1111/j.1552-6569.2011.00647.x. Epub 2012 Jan 23. J Neuroimaging. 2013. PMID: 22268491

6

A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study.

Namekawa M, Takiyama Y, Sakoe K, Shimazaki H, Amaike M, Niijima K, Nakano I, Nishizawa M. Namekawa M, et al. Among authors: sakoe k. J Neurol Sci. 2001 Mar 15;185(1):63-8. doi: 10.1016/s0022-510x(01)00470-1. J Neurol Sci. 2001. PMID: 11266693

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

Novel SACS mutation in a Belgian family with sacsin-related ataxia.

Ouyang Y, Segers K, Bouquiaux O, Wang FC, Janin N, Andris C, Shimazaki H, Sakoe K, Nakano I, Takiyama Y. Ouyang Y, et al. Among authors: sakoe k. J Neurol Sci. 2008 Jan 15;264(1-2):73-6. doi: 10.1016/j.jns.2007.07.022. Epub 2007 Aug 22. J Neurol Sci. 2008. PMID: 17716690

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