Mitsui J - Search Results

1

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K. Enomoto Y, et al. Among authors: mitsui j. Eur J Med Genet. 2020 Jan;63(1):103610. doi: 10.1016/j.ejmg.2018.12.015. Epub 2018 Dec 30. Eur J Med Genet. 2020. PMID: 30602132

2

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

3

[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.

4

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

5

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

6

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

7

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.

8

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

9

Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.

Maeda MH, Mitsui J, Soong BW, Takahashi Y, Ishiura H, Hayashi S, Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S, Shimizu J, Inazawa J, Goto J, Tsuji S. Maeda MH, et al. Among authors: mitsui j. Ann Neurol. 2012 Jan;71(1):84-92. doi: 10.1002/ana.22658. Ann Neurol. 2012. PMID: 22275255

10

[Therapeutic trial design issues for future disease-modifying therapy of multiple system atrophy].

Ichikawa Y, Goto J, Nakahara Y, Mitsui J, Tsuji S. Ichikawa Y, et al. Among authors: mitsui j. Rinsho Shinkeigaku. 2011 Nov;51(11):910-3. doi: 10.5692/clinicalneurol.51.910. Rinsho Shinkeigaku. 2011. PMID: 22277413 Japanese.

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