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302 results

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Page 1
Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.
Yamada M, Tanaka M, Takagi M, Kobayashi S, Taguchi Y, Takashima S, Tanaka K, Touge T, Hatsuta H, Murayama S, Hayashi Y, Kaneko M, Ishiura H, Mitsui J, Atsuta N, Sobue G, Shimozawa N, Inuzuka T, Tsuji S, Hozumi I. Yamada M, et al. Among authors: shimozawa n. Neurology. 2014 Feb 25;82(8):705-12. doi: 10.1212/WNL.0000000000000143. Epub 2014 Jan 24. Neurology. 2014. PMID: 24463626
Epidemiology of X-linked adrenoleukodystrophy in Japan.
Takemoto Y, Suzuki Y, Tamakoshi A, Onodera O, Tsuji S, Hashimoto T, Shimozawa N, Orii T, Kondo N. Takemoto Y, et al. Among authors: shimozawa n. J Hum Genet. 2002;47(11):590-3. doi: 10.1007/s100380200090. J Hum Genet. 2002. PMID: 12436195
Natural history of X-linked adrenoleukodystrophy in Japan.
Suzuki Y, Takemoto Y, Shimozawa N, Imanaka T, Kato S, Furuya H, Kaga M, Kato K, Hashimoto N, Onodera O, Tsuji S. Suzuki Y, et al. Among authors: shimozawa n. Brain Dev. 2005 Aug;27(5):353-7. doi: 10.1016/j.braindev.2004.09.008. Brain Dev. 2005. PMID: 16023551
Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis.
Takahashi Y, Seki N, Ishiura H, Mitsui J, Matsukawa T, Kishino A, Onodera O, Aoki M, Shimozawa N, Murayama S, Itoyama Y, Suzuki Y, Sobue G, Nishizawa M, Goto J, Tsuji S. Takahashi Y, et al. Among authors: shimozawa n. Arch Neurol. 2008 Oct;65(10):1326-32. doi: 10.1001/archneur.65.10.1326. Arch Neurol. 2008. PMID: 18852346
Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.
Matsukawa T, Asheuer M, Takahashi Y, Goto J, Suzuki Y, Shimozawa N, Takano H, Onodera O, Nishizawa M, Aubourg P, Tsuji S. Matsukawa T, et al. Among authors: shimozawa n. Neurogenetics. 2011 Feb;12(1):41-50. doi: 10.1007/s10048-010-0253-6. Epub 2010 Jul 27. Neurogenetics. 2011. PMID: 20661612 Free PMC article.
Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.
Yamashita T, Mitsui J, Shimozawa N, Takashima S, Umemura H, Sato K, Takemoto M, Hishikawa N, Ohta Y, Matsukawa T, Ishiura H, Yoshimura J, Doi K, Morishita S, Tsuji S, Abe K. Yamashita T, et al. Among authors: shimozawa n. J Neurol Sci. 2017 Apr 15;375:424-429. doi: 10.1016/j.jns.2017.02.058. Epub 2017 Feb 27. J Neurol Sci. 2017. PMID: 28320181
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: shimozawa n. Neurol Genet. 2020 Jan 16;6(1):e396. doi: 10.1212/NXG.0000000000000396. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042923 Free PMC article.
302 results