Nishino 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: nishino 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

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: nishino i. Neuromuscul Disord. 2002 Jun;12(5):506-12. doi: 10.1016/s0960-8966(01)00329-7. Neuromuscul Disord. 2002. PMID: 12031626

3

Negative result in search for human alpha-dystrobrevin deficiency.

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

4

Actin mutations are one cause of congenital fibre type disproportion.

Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, Shimakawa S, Hagiwara T, Ouvrier R, Sparrow JC, Nishino I, North KN, Nonaka I. Laing NG, et al. Among authors: nishino i. Ann Neurol. 2004 Nov;56(5):689-94. doi: 10.1002/ana.20260. Ann Neurol. 2004. PMID: 15468086

5

Two novel CAV3 gene mutations in Japanese families.

Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi YK, Nonaka I, Nishino I. Sugie K, et al. Among authors: nishino i. Neuromuscul Disord. 2004 Dec;14(12):810-4. doi: 10.1016/j.nmd.2004.08.008. Neuromuscul Disord. 2004. PMID: 15564037

6

Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.

Nonaka I, Noguchi S, Nishino I. Nonaka I, et al. Among authors: nishino i. Curr Neurol Neurosci Rep. 2005 Feb;5(1):61-5. doi: 10.1007/s11910-005-0025-0. Curr Neurol Neurosci Rep. 2005. PMID: 15676110 Review.

7

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.

Tsai TC, Horinouchi H, Noguchi S, Minami N, Murayama K, Hayashi YK, Nonaka I, Nishino I. Tsai TC, et al. Among authors: nishino i. Neuromuscul Disord. 2005 Mar;15(3):245-52. doi: 10.1016/j.nmd.2004.12.005. Epub 2005 Jan 28. Neuromuscul Disord. 2005. PMID: 15725586

8

Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.

Goh KJ, Wong KT, Nishino I, Minami N, Nonaka I. Goh KJ, et al. Among authors: nishino i. Neuromuscul Disord. 2005 Mar;15(3):262-4. doi: 10.1016/j.nmd.2004.10.016. Epub 2005 Jan 28. Neuromuscul Disord. 2005. PMID: 15725589

9

Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies.

Taniguchi M, Kurahashi H, Noguchi S, Fukudome T, Okinaga T, Tsukahara T, Tajima Y, Ozono K, Nishino I, Nonaka I, Toda T. Taniguchi M, et al. Among authors: nishino i. Hum Mol Genet. 2006 Apr 15;15(8):1279-89. doi: 10.1093/hmg/ddl045. Epub 2006 Mar 10. Hum Mol Genet. 2006. PMID: 16531417

10

Central core disease is due to RYR1 mutations in more than 90% of patients.

Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I. Wu S, et al. Among authors: nishino i. Brain. 2006 Jun;129(Pt 6):1470-80. doi: 10.1093/brain/awl077. Epub 2006 Apr 18. Brain. 2006. PMID: 16621918

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