Ishiura H - Search Results

1

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.

Miyabayashi T, Ochiai T, Suzuki N, Aoki M, Inui T, Okubo Y, Sato R, Togashi N, Takashima H, Ishiura H, Tsuji S, Koh K, Takiyama Y, Haginoya K. Miyabayashi T, et al. Among authors: ishiura h. J Hum Genet. 2019 Feb;64(2):171-176. doi: 10.1038/s10038-018-0538-4. Epub 2018 Nov 22. J Hum Genet. 2019. PMID: 30467354

2

Lymphomatoid granulomatosis involving central nervous system successfully treated with rituximab alone.

Ishiura H, Morikawa M, Hamada M, Watanabe T, Kako S, Chiba S, Motokura T, Hangaishi A, Shibahara J, Akahane M, Goto J, Kwak S, Kurokawa M, Tsuji S. Ishiura H, et al. Arch Neurol. 2008 May;65(5):662-5. doi: 10.1001/archneur.65.5.662. Arch Neurol. 2008. PMID: 18474745

3

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

4

TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan.

Hara K, Kokubo Y, Ishiura H, Fukuda Y, Miyashita A, Kuwano R, Sasaki R, Goto J, Nishizawa M, Kuzuhara S, Tsuji S. Hara K, et al. Among authors: ishiura h. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):310-3. doi: 10.1002/ajmg.b.30966. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19405049

5

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. Among authors: ishiura h. 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

6

A case of atypical amyloid polyneuropathy with predominant upper-limb involvement with the diagnosis unexpectedly found at lung operation.

Shirota Y, Iwata A, Ishiura H, Hashimoto M, Goto J, Shimizu J, Hanajima R, Nakajima J, Takazawa Y, Tsuji S. Shirota Y, et al. Among authors: ishiura h. Intern Med. 2010;49(15):1627-31. doi: 10.2169/internalmedicine.49.3663. Epub 2010 Aug 2. Intern Med. 2010. PMID: 20686303 Free article. Review.

7

Dominant mutations in RP1L1 are responsible for occult macular dystrophy.

Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Usui T, Hatase T, Nakamura M, Ohde H, Itabashi T, Okamoto H, Takada Y, Iwata T. Akahori M, et al. Among authors: ishiura h. Am J Hum Genet. 2010 Sep 10;87(3):424-9. doi: 10.1016/j.ajhg.2010.08.009. Am J Hum Genet. 2010. PMID: 20826268 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. Neurogenetics. 2011 May;12(2):117-21. doi: 10.1007/s10048-010-0271-4. Epub 2011 Jan 26. Neurogenetics. 2011. PMID: 21267618

9

[Japan spastic paraplegia research consortium (JASPAC)].

Takiyama Y, Ishiura H, Shimazaki H, Namekawa M, Takahashi Y, Goto J, Tsuji S, Nishizawa M. Takiyama Y, et al. Among authors: ishiura h. Rinsho Shinkeigaku. 2010 Nov;50(11):931-4. doi: 10.5692/clinicalneurol.50.931. Rinsho Shinkeigaku. 2010. PMID: 21921516 Japanese.

10

[Massively parallel sequence analysis for revealing causes of neuromuscular disorders].

Ishiura H, Tsuji S. Ishiura H, et al. Rinsho Shinkeigaku. 2010 Nov;50(11):957-8. doi: 10.5692/clinicalneurol.50.957. Rinsho Shinkeigaku. 2010. PMID: 21921526 Japanese.

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