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768 results

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Page 1
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y. Tateyama M, et al. Among authors: nishino i. Neurology. 2002 Jan 22;58(2):323-5. doi: 10.1212/wnl.58.2.323. Neurology. 2002. PMID: 11805270
Clinicopathological features of genetically confirmed Danon disease.
Sugie K, Yamamoto A, Murayama K, Oh SJ, Takahashi M, Mora M, Riggs JE, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne E, DiMauro S, Nonaka I, Hirano M, Nishino I. Sugie K, et al. Among authors: nishino i. Neurology. 2002 Jun 25;58(12):1773-8. doi: 10.1212/wnl.58.12.1773. Neurology. 2002. PMID: 12084876 Review.
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: nishino i. Neurology. 2003 Apr 22;60(8):1341-4. doi: 10.1212/01.wnl.0000065886.82930.c5. Neurology. 2003. PMID: 12707439
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: nishino i. Neurology. 2004 Feb 24;62(4):620-3. doi: 10.1212/01.wnl.0000113023.84421.00. Neurology. 2004. PMID: 14981181
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: nishino i. Neurology. 2004 Jun 22;62(12):2209-13. doi: 10.1212/01.wnl.0000130486.54839.15. Neurology. 2004. PMID: 15210884
Gene expression analyses in X-linked myotubular myopathy.
Noguchi S, Fujita M, Murayama K, Kurokawa R, Nishino I. Noguchi S, et al. Among authors: nishino i. Neurology. 2005 Sep 13;65(5):732-7. doi: 10.1212/01.wnl.0000174625.67484.4d. Neurology. 2005. PMID: 16157907
A new congenital form of X-linked autophagic vacuolar myopathy.
Yan C, Tanaka M, Sugie K, Nobutoki T, Woo M, Murase N, Higuchi Y, Noguchi S, Nonaka I, Hayashi YK, Nishino I. Yan C, et al. Among authors: nishino i. Neurology. 2005 Oct 11;65(7):1132-4. doi: 10.1212/01.wnl.0000178979.19887.f5. Neurology. 2005. PMID: 16217076
768 results