Fukami M, Wada Y, Okada M, Nishino I, Hasegawa T, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T.
CXorf6 is a causative gene for hypospadias. Nat Genet.2006 Dec;38(12):1369-1371. Epub 2006 Nov 5.
Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y, Ogino M, Takada F, Eriguchi M, Kototaoka N, Campbell KP, Osawa M, Nishino I.
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol. 2006 Nov;60(5):597-602. (Newly limb-girdle muscular dystrophy! - LGMD2L)
Lin YC, Murakami T, Hayashi YK, Nishino I, Nonaka I, Yuo CY, Jong YJ .
A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I. Brain Dev. 2007 May;29(4):234-238. Epub 2006 Oct 20
Nishino I.
Autophagic vacuolar myopathy. Semin Peditr Neurol. 2006 Jun;13(2):90-95.
Miura S, Tomitsuka E, Kamei Y, Yamazaki T, Kai Y, Tamura M, Kita K, Nishino I, Ezaki O.
A mouse model of mitochondrial myopathy, Luft’s disease. Am J Pathol. 2006 Oct;169(4):1129-1139.
Liewluck T, Pho-iam T, Limwongse C, Thongnoppakhun W, Boonyapisit K, Raksadawan N, Murayama K, Hayashi YK, Nishino I, Sangruchi T.
Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand. Muscle Nerve.2006 Dec;34(6):775-778.
Ibarra MCA, Wu S, Murayama K, Minami N, Ichihara Y, Kikuchi H, Noguchi S, Hayashi YK, Ochiai R, Nishino I.
Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology. 2006 Jun;104(6):1146-1154.
Wu S, Ibarra MCA, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I.
Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006 Jun;129(Pt 6):1470-1480. Epub 2006 Apr 18.
Liewluck T, Raksadawan N, Limwongse C, Nishino I, Sangruchi T.
Floppy infant caused by MTM1 mutation: A first genetically-confirmed X-linked myotubular mypathy patient in Thailand. J Med Assoc Thai.89: 99-105, 2006.
Goto K, Nishino I, Hayshi YK.
Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord.2006 Apr;16(4):256-261. Epub 2006 Mar 20.
Hino-Fukuyo N, Haginoya K, Hayashi YK, Nishino I, Murakami T, Nonaka I, Togashi K, Tanaka S, Takayanagi M, Yokoyama H, Sakamoto O, Abe T, Toda T, Iimura K.
A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit. Neuromuscul Disord.2006 Apr;16(4):274-276. Epub 2006 Mar 20.
Taniguchi M, Kurahashi H, Noguchi S, Fukudome T, Okinaga T, Tsukahara T, Tajima Y, Ozono K, Nishino I, Nonaka I, Toda T.
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies. Hum Mol Genet. 2006 Apr 15;15(8):1279-1289. Epub 2006 Mar 10.
Ozawa R, Hayashi YK, Ogawa M, Kurokawa R, Chen YC, Matsumoto H, Nonaka I, Nishino I.
Emerin is essential for a normal cardiac function in mice. Am J Pathol. 2006 Mar;168(3):907-917.
Toriumi Y, Takusa Y, Uchiyama A, Kimura M, Sejima H, Yamaguchi S, Eda I, Nishino I, Nonaka I.
Distal myopathy with rimmed vacuoles in a case of opercular syndrome. Brain Dev. 2006 Aug;28(7):458-461. Epub 2006 Feb 28.
Taniguchi M, Kurahashi H, Noguchi S, Sese J, Okinaga T, Tsukahara T, Guicheney P, Ozono K, Nishino I, Morishita S, Toda T
Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-α2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease? Biochem Biophys Res Commun. 2006 Apr 7;342(2):489-502. Epub 2006 Feb 3.
Sakamoto HM, Yoshioka M, Tsuji M, Kuroki S, Higuchi Y, Nonaka I, Nishino I.
A case of congenital neuromuscular disease with uniform type 1 fibers. Brain Dev. 2006 Apr;28(3):202-205. Epub 2006 Jan 18.