Mitsui J - Search Results

1

Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.

Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Inamizu S, Shiraishi W, Yamasaki R, Ohyagi Y, Kira J, Oya Y, Yabe H, Nishikawa N, Tobisawa S, Matsuda N, Masuda M, Kugimoto C, Fukushima K, Yano S, Yoshimura J, Doi K, Nakagawa M, Morishita S, Tsuji S, Takashima H. Higuchi Y, et al. Among authors: mitsui j. Ann Neurol. 2016 Apr;79(4):659-72. doi: 10.1002/ana.24612. Epub 2016 Mar 17. Ann Neurol. 2016. PMID: 26991897 Free PMC article.

2

Esophageal Dysmotility in Multiple System Atrophy: A Retrospective Cross-Sectional Study.

Ueha R, Koyama M, Seto A, Sato T, Goto T, Orimo K, Mitsui J, Yamasoba T. Ueha R, et al. Among authors: mitsui j. J Clin Med. 2024 Aug 25;13(17):5026. doi: 10.3390/jcm13175026. J Clin Med. 2024. PMID: 39274241 Free PMC article.

3

Pathology of the sympathetic nervous system corresponding to the decreased cardiac uptake in 123I-metaiodobenzylguanidine (MIBG) scintigraphy in a patient with Parkinson disease.

Mitsui J, Saito Y, Momose T, Shimizu J, Arai N, Shibahara J, Ugawa Y, Kanazawa I, Tsuji S, Murayama S. Mitsui J, et al. J Neurol Sci. 2006 Apr 15;243(1-2):101-4. doi: 10.1016/j.jns.2005.11.034. Epub 2006 Jan 27. J Neurol Sci. 2006. PMID: 16442563

4

[A case of small cell carcinoma of the lung associated with paraneoplastic cerebellar degeneration and Lambert-Eaton myasthenic syndrome].

Seki N, Mitsui J, Hoshino M, Akishiro M, Ugawa Y, Goto J, Tsuji S. Seki N, et al. Among authors: mitsui j. No To Shinkei. 2006 Jan;58(1):68-73. No To Shinkei. 2006. PMID: 16482925 Japanese.

5

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.

Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H, Yomono H, Kurisaki H, Goto J, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O. Hara K, et al. Among authors: mitsui j. Neurology. 2008 Aug 19;71(8):547-51. doi: 10.1212/01.wnl.0000311277.71046.a0. Epub 2008 Jun 25. Neurology. 2008. PMID: 18579805

6

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: mitsui j. Arch Neurol. 2008 Oct;65(10):1326-32. doi: 10.1001/archneur.65.10.1326. Arch Neurol. 2008. PMID: 18852346

7

Mutations for Gaucher disease confer high susceptibility to Parkinson disease.

Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J, Fukuda Y, Date H, Iwata A, Yamamoto M, Hattori N, Murata M, Toda T, Tsuji S. Mitsui J, et al. Arch Neurol. 2009 May;66(5):571-6. doi: 10.1001/archneurol.2009.72. Arch Neurol. 2009. PMID: 19433656

8

Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer.

Mitsui J, Fukuda Y, Azuma K, Tozaki H, Ishiura H, Takahashi Y, Goto J, Tsuji S. Mitsui J, et al. J Hum Genet. 2010 Jul;55(7):448-55. doi: 10.1038/jhg.2010.46. Epub 2010 May 20. J Hum Genet. 2010. PMID: 20485446

9

Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines.

Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice A, Hattori N, Tsuji S. Mitsui J, et al. Am J Hum Genet. 2010 Jul 9;87(1):75-89. doi: 10.1016/j.ajhg.2010.06.006. Am J Hum Genet. 2010. PMID: 20598272 Free PMC article.

10

Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.

Ishiura H, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, Takahashi Y, Ichikawa Y, Goto J, Sakai T, Tsuji S. Ishiura H, et al. Among authors: mitsui j. Neurogenetics. 2011 May;12(2):117-21. doi: 10.1007/s10048-010-0271-4. Epub 2011 Jan 26. Neurogenetics. 2011. PMID: 21267618

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