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Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.
Furusawa Y, Mori-Yoshimura M, Yamamoto T, Sakamoto C, Wakita M, Kobayashi Y, Fukumoto Y, Oya Y, Fukuda T, Sugie H, Hayashi YK, Nishino I, Nonaka I, Murata M. Furusawa Y, et al. Among authors: hayashi yk. J Inherit Metab Dis. 2012 Mar;35(2):301-10. doi: 10.1007/s10545-011-9393-6. Epub 2011 Oct 7. J Inherit Metab Dis. 2012. PMID: 21984055
GNE myopathy: a prospective natural history study of disease progression.
Mori-Yoshimura M, Oya Y, Yajima H, Yonemoto N, Kobayashi Y, Hayashi YK, Noguchi S, Nishino I, Murata M. Mori-Yoshimura M, et al. Among authors: hayashi yk. Neuromuscul Disord. 2014 May;24(5):380-6. doi: 10.1016/j.nmd.2014.02.008. Epub 2014 Feb 28. Neuromuscul Disord. 2014. PMID: 24656604
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I. Malicdan MC, et al. Among authors: hayashi yk. Hum Mol Genet. 2007 Jan 15;16(2):115-28. doi: 10.1093/hmg/ddl446. Epub 2006 Dec 12. Hum Mol Genet. 2007. Retraction in: Hum Mol Genet. 2007 Nov 1;16(21):2647. doi: 10.1093/hmg/ddm231 PMID: 17164266 Retracted.
Distal lipid storage myopathy due to PNPLA2 mutation.
Ohkuma A, Nonaka I, Malicdan MC, Noguchi S, Ohji S, Nomura K, Sugie H, Hayashi YK, Nishino I. Ohkuma A, et al. Among authors: hayashi yk. Neuromuscul Disord. 2008 Aug;18(8):671-4. doi: 10.1016/j.nmd.2008.06.382. Epub 2008 Jul 26. Neuromuscul Disord. 2008. PMID: 18657972
Clinical and genetic analysis of lipid storage myopathies.
Ohkuma A, Noguchi S, Sugie H, Malicdan MC, Fukuda T, Shimazu K, López LC, Hirano M, Hayashi YK, Nonaka I, Nishino I. Ohkuma A, et al. Among authors: hayashi yk. Muscle Nerve. 2009 Mar;39(3):333-42. doi: 10.1002/mus.21167. Muscle Nerve. 2009. PMID: 19208393 Free PMC article.
220 results