Shimazaki H - Search Results

1

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.

Buchert R, Uebe S, Radwan F, Tawamie H, Issa S, Shimazaki H, Henneke M, Ekici AB, Reis A, Abou Jamra R. Buchert R, et al. Among authors: shimazaki h. Eur J Med Genet. 2013 Nov;56(11):599-602. doi: 10.1016/j.ejmg.2013.09.010. Epub 2013 Sep 28. Eur J Med Genet. 2013. PMID: 24080142

2

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. J Med Genet. 2012 Dec;49(12):777-84. doi: 10.1136/jmedgenet-2012-101212. J Med Genet. 2012. PMID: 23188110

3

Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.

Koh K, Tsuchiya M, Ishiura H, Shimazaki H, Nakamura T, Hara H, Suzuyama K, Takahashi M, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium. Koh K, et al. Among authors: shimazaki h. J Hum Genet. 2022 Feb;67(2):119-121. doi: 10.1038/s10038-021-00977-z. Epub 2021 Sep 6. J Hum Genet. 2022. PMID: 34483340

4

[Clinical aspects of hereditary spastic paraplegias].

Shimazaki H. Shimazaki H. Rinsho Shinkeigaku. 2014;54(12):1012-5. doi: 10.5692/clinicalneurol.54.1012. Rinsho Shinkeigaku. 2014. PMID: 25519961 Japanese.

5

VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

Koh K, Ishiura H, Shimazaki H, Tsutsumiuchi M, Ichinose Y, Nan H, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y. Koh K, et al. Among authors: shimazaki h. Mol Genet Genomic Med. 2020 Mar;8(3):e1108. doi: 10.1002/mgg3.1108. Epub 2019 Dec 26. Mol Genet Genomic Med. 2020. PMID: 31876103 Free PMC article.

6

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.

Shimazaki H, Honda J, Naoi T, Namekawa M, Nakano I, Yazaki M, Nakamura K, Yoshida K, Ikeda S, Ishiura H, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Takiyama Y. Shimazaki H, et al. J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1024-8. doi: 10.1136/jnnp-2013-306981. Epub 2014 Feb 12. J Neurol Neurosurg Psychiatry. 2014. PMID: 24521565

7

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.

Koh K, Ishiura H, Beppu M, Shimazaki H, Ichinose Y, Mitsui J, Kuwabara S, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium. Koh K, et al. Among authors: shimazaki h. J Hum Genet. 2018 Sep;63(9):1009-1013. doi: 10.1038/s10038-018-0477-0. Epub 2018 Jun 18. J Hum Genet. 2018. PMID: 29915212 Clinical Trial.

8

[A case of aceruloplasminemia presenting as cerebellar ataxia with homozygous mutation nt2602 delG].

Nagata M, Takiyama Y, Shimazaki H, Nakano I, Miyajima H. Nagata M, et al. Among authors: shimazaki h. No To Shinkei. 2004 Oct;56(10):885-9. No To Shinkei. 2004. PMID: 15609677 Japanese.

9

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. 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

10

[Radiation myelopathy and plexopathy].

Shimazaki H, Nakano I. Shimazaki H, et al. Brain Nerve. 2008 Feb;60(2):115-21. Brain Nerve. 2008. PMID: 18306658 Review. Japanese.

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