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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
Novel FHL1 mutations in fatal and benign reducing body myopathy.
Shalaby S, Hayashi YK, Nonaka I, Noguchi S, Nishino I. Shalaby S, et al. Among authors: nishino i. Neurology. 2009 Jan 27;72(4):375-6. doi: 10.1212/01.wnl.0000341311.84347.a0. Neurology. 2009. PMID: 19171836 No abstract available.
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.
768 results