Nonaka I - Search Results

1

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.

Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y. Arikawa-Hirasawa E, et al. Among authors: nonaka i. Am J Hum Genet. 2002 May;70(5):1368-75. doi: 10.1086/340390. Epub 2002 Apr 8. Am J Hum Genet. 2002. PMID: 11941538 Free PMC article.

2

[Electron transfer complex III deficiency].

Nishino I, Nonaka I. Nishino I, et al. Among authors: nonaka i. Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):494-6. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645118 Review. Japanese. No abstract available.

3

[Mitochondrial DNA depletion].

Nishino I, Nonaka I. Nishino I, et al. Among authors: nonaka i. Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):501-4. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645120 Review. Japanese. No abstract available.

4

MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.

Nishino I, Minami N, Kobayashi O, Ikezawa M, Goto Y, Arahata K, Nonaka I. Nishino I, et al. Among authors: nonaka i. Neuromuscul Disord. 1998 Oct;8(7):453-8. doi: 10.1016/s0960-8966(98)00075-3. Neuromuscul Disord. 1998. PMID: 9829274 Free article.

5

Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutations in brief no. 213. Online.

Ikezawa M, Nishino I, Goto Y, Miike T, Nonaka I. Ikezawa M, et al. Among authors: nonaka i. Hum Mutat. 1999;13(2):170. doi: 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU12>3.0.CO;2-7. Hum Mutat. 1999. PMID: 10094556

6

Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.

Minami N, Nishino I, Kobayashi O, Ikezoe K, Goto Y, Nonaka I. Minami N, et al. Among authors: nonaka i. J Neurol Sci. 1999 Dec 1;171(1):31-7. doi: 10.1016/s0022-510x(99)00245-2. J Neurol Sci. 1999. PMID: 10567047

7

Sarcolemmopathy: muscular dystrophies with cell membrane defects.

Ozawa E, Nishino I, Nonaka I. Ozawa E, et al. Among authors: nonaka i. Brain Pathol. 2001 Apr;11(2):218-30. doi: 10.1111/j.1750-3639.2001.tb00394.x. Brain Pathol. 2001. PMID: 11303797 Free PMC article. Review.

8

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Brown RH Jr. Matsuda C, et al. Among authors: nonaka i. Hum Mol Genet. 2001 Aug 15;10(17):1761-6. doi: 10.1093/hmg/10.17.1761. Hum Mol Genet. 2001. PMID: 11532985

9

Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene.

Yamasoba T, Goto Yi, Oka Y, Nishino I, Tsukuda K, Nonaka I. Yamasoba T, et al. Among authors: nonaka i. Neuromuscul Disord. 2002 Jun;12(5):506-12. doi: 10.1016/s0960-8966(01)00329-7. Neuromuscul Disord. 2002. PMID: 12031626

10

Negative result in search for human alpha-dystrobrevin deficiency.

Ishikawa H, Nonaka I, Nishino I. Ishikawa H, et al. Among authors: nonaka i. Muscle Nerve. 2003 Sep;28(3):387-8. doi: 10.1002/mus.10441. Muscle Nerve. 2003. PMID: 12929204 No abstract available.

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