Noguchi S - Search Results

1

GNE myopathy: new name and new mutation nomenclature.

Huizing M, Carrillo-Carrasco N, Malicdan MC, Noguchi S, Gahl WA, Mitrani-Rosenbaum S, Argov Z, Nishino I. Huizing M, et al. Among authors: noguchi s. Neuromuscul Disord. 2014 May;24(5):387-9. doi: 10.1016/j.nmd.2014.03.004. Epub 2014 Mar 13. Neuromuscul Disord. 2014. PMID: 24685570 Free PMC article. No abstract available.

2

cDNA microarray analysis of individual Duchenne muscular dystrophy patients.

Noguchi S, Tsukahara T, Fujita M, Kurokawa R, Tachikawa M, Toda T, Tsujimoto A, Arahata K, Nishino I. Noguchi S, et al. Hum Mol Genet. 2003 Mar 15;12(6):595-600. Hum Mol Genet. 2003. PMID: 12620965

3

Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.

Driss A, Noguchi S, Amouri R, Kefi M, Sasaki T, Sugie K, Souilem S, Hayashi YK, Shimizu N, Minoshima S, Kudoh J, Hentati F, Nishino I. Driss A, et al. Among authors: noguchi s. Neurology. 2003 Apr 22;60(8):1341-4. doi: 10.1212/01.wnl.0000065886.82930.c5. Neurology. 2003. PMID: 12707439

4

Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle.

Keira Y, Noguchi S, Minami N, Hayashi YK, Nishino I. Keira Y, et al. Among authors: noguchi s. J Biochem. 2003 May;133(5):659-64. doi: 10.1093/jb/mvg084. J Biochem. 2003. PMID: 12801918 Free article.

5

Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.

Noguchi S, Keira Y, Murayama K, Ogawa M, Fujita M, Kawahara G, Oya Y, Imazawa M, Goto Y, Hayashi YK, Nonaka I, Nishino I. Noguchi S, et al. J Biol Chem. 2004 Mar 19;279(12):11402-7. doi: 10.1074/jbc.M313171200. Epub 2004 Jan 5. J Biol Chem. 2004. PMID: 14707127 Free article.

6

Ullrich disease due to deficiency of collagen VI in the sarcolemma.

Ishikawa H, Sugie K, Murayama K, Awaya A, Suzuki Y, Noguchi S, Hayashi YK, Nonaka I, Nishino I. Ishikawa H, et al. Among authors: noguchi s. Neurology. 2004 Feb 24;62(4):620-3. doi: 10.1212/01.wnl.0000113023.84421.00. Neurology. 2004. PMID: 14981181

7

POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.

Kim DS, Hayashi YK, Matsumoto H, Ogawa M, Noguchi S, Murakami N, Sakuta R, Mochizuki M, Michele DE, Campbell KP, Nonaka I, Nishino I. Kim DS, et al. Among authors: noguchi s. Neurology. 2004 Mar 23;62(6):1009-11. doi: 10.1212/01.wnl.0000115386.28769.65. Neurology. 2004. PMID: 15037715

8

A new diagnostic test for VLCAD deficiency using immunohistochemistry.

Ohashi Y, Hasegawa Y, Murayama K, Ogawa M, Hasegawa T, Kawai M, Sakata N, Yoshida K, Yarita H, Imai K, Kumagai I, Murakami K, Hasegawa H, Noguchi S, Nonaka I, Yamaguchi S, Nishino I. Ohashi Y, et al. Among authors: noguchi s. Neurology. 2004 Jun 22;62(12):2209-13. doi: 10.1212/01.wnl.0000130486.54839.15. Neurology. 2004. PMID: 15210884

9

Subcellular localization of fukutin and fukutin-related protein in muscle cells.

Matsumoto H, Noguchi S, Sugie K, Ogawa M, Murayama K, Hayashi YK, Nishino I. Matsumoto H, et al. Among authors: noguchi s. J Biochem. 2004 Jun;135(6):709-12. doi: 10.1093/jb/mvh086. J Biochem. 2004. PMID: 15213246 Free article.

10

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: noguchi s. Neuromuscul Disord. 2004 Dec;14(12):810-4. doi: 10.1016/j.nmd.2004.08.008. Neuromuscul Disord. 2004. PMID: 15564037

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