Migita T, Mukaida K, Kawamoto M, Kobayashi M, Nishino I, Yuget O.
Propofol-induced changes in myoplasmic calcium concentrations in cultured human skeletal muscles from RYR1 mutation carriers. Anaesth Intensive Care. 2007 Dec;35(6):894-898.
Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, Flanigan KM, Meely LA, Whitney D, Beggs AH, Kohane IS, Kunkel LM.
Distinctive patterns of microRNA expression in primary muscular diorders. Proc Natl Acad Sci USA. 2007 Oct 23;104(43):17016-17021. Epub 2007 Oct 17.
Kawahara G, Okada M, Morone N, Ibarra MCA, Nonaka I, Noguchi S, Hayashi YK, Nishino I.
Sarcolemma specific collagen VI deficiency in UCMD is associated with diminished cell anchorage. Neuorloly. 2007 Sep 4;69(10):1043-1049.
Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, Hayashi YK, Nishino I.
Primary collagen VI deficiency is the second leading cause of congenital MD in Japan. Neurology. 2007 Sep 4;69(10):1035-1042.
Aoki J, Yasuno T, Sugie H, Kido H, Nishino I, Shigematsu Y, Kanazawa M, Takayanagi M, Kumami M, Endo K, Kaneoka H, Yamaguchi M, Fukuda T, Yamamoto T.
A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation. Neurology. 2007 Aug 21;69(8):804-806.
Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I.
A Gne knockout mouse expressing human D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet. 2007 Nov 15;16(22):2669-2682. Epub 2007 Aug 18. (世界で初めて遠位型ミオパチー(DMRV/HIBM)モデルマウス作製に成功し、治療法開発研究が可能になりました)
Ura S, Hayshi YK, Goto K, Astejada MN, Murakami T, Nagato M, Ohta S, Daimon Y, Takekawa H, Hirata K, Nonaka I, Noguchi S, Nishino I.
Limb girdle muscular dystrophy due to the emerin gene mutation. Arch Neurol. 2007 Jul;64(7):1038-1041.
Matsubara E, Tsuchiya A, Minami N, Nishino I, Pappolla MA, Shoji M, Abe K
A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene. Eur J Neurol. 2007 Jul;14(7):819-822.
Sugimoto S, Shiomi K, Yamamoto A, Nishino I, Nonaka I, Ohi T.
LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy. Intern Med. 2007;46(11):757-760. Epub 2007 Jun 1.
Keira Y, Noguchi S, Kurokawa R, Fujita M, Minami N, Hayshi YK, Kato T, Nishino I.
Gene expression profiling characterizing lobulated fibers in limb girdle muscular dystrophy type 2A. Neurosci Res. 2007 Apr;57(4):513-521. Epub 2007 Jan 5.
Muchir A, Pavlidis P, Bonne G, Hayashi YK, Worman HJ.
Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy. Hum Mol Genet.2007 Aug 1;16(15):1884-1895. Epub 2007 Jun 13.
Fujita E, Kouroku Y, Isoai A, Kumagai H, Misutani A, Matsuda C, Hayashi YK, Momoi T.
Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II). Hum Mol Genet. 2007 Mar 15;16(6):618-629. Epub 2007 Mar 1
Malicdan MC, Noguchi S, Nishino I.
Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy Autophagy. 2007 Jul-Aug;3(4):396-398. Epub 2007 Jul 12.
Watanabe N, Sasaoka T, Noguchi S, Nishino I, Tanaka T.
Cys669-Cys713 disulfide bridge formation is a key to dystroglycan cleavage and subunit association. Genes Cells. 2007 Jan;12(1):75-88.
Liewluck T, Hayashi YK, Ohsawa M, Kurokawa R, Fujita M, Noguchi S, Nonaka I, Nishino I.
Unfolded protein response and aggresome formation in hereditary reducing body myopathy. Muscle Nerve.2007 Mar;35(3):322-326.
Ohsawa M, Liewluck T, Ogata K, Iizuka T, Hayashi YK, Nonaka I, Sasaki M, Nishino I.
Familial reducing body myopathy. Brain Dev. 2007 Mar;29(2):112-116. Epub 2006 Aug 21.