研究業績

国際学術誌に掲載された主な論文

2009年

  • Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I.
    Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
    J Clin Invest. 2009 Sep;119(9):2623-33. Epub 2009 Aug 10. (リポジストロフィーを伴う新しい筋ジストロフィーを世界で初めて見出しました) (当該号のEditorialで取り上げられました)
  • Sugie K, Hayashi YK, Kin T, Goto K, Nishino I, Ueno S.
    Hemiatrophy as a clinical presentation in facioscapulohumeral muscular dystrophy (FSHD).
    Neurology. 2009 Aug 4;73(5):e24.
  • Arai A, Mitsuhashi S, Saito Y, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Robertson SP, Nishimura G, Yamamoto T, Nonaka I, Nishino I.
    Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.
    Neuromuscul Disord. 2009 Jul;19(7):485-8. Epub 2009 Jun 23.
  • Park YE, Hayashi YK, Bonne G, Arimura T, Noguchi S, Nonaka I, Nishino I.
    Autophagic degradation of nuclear components in mammalian cells.
    Autophagy. 2009 Aug;5(6):795-804. Epub 2009 Aug 30.
  • Shalaby S, Mitsuhashi H, Matsuda C, Minami N, Noguchi S, Nonaka I, Nishino I, Hayashi YK.
    Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
    J Neuropathol Exp Neurol. 2009 Jun;68(6):701-707.
  • Malicdan MC, Noguchi S, Hayashi YK, Nonaka I, Nishino I.
    Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.
    Nat Med. 2009 Jun;15(6):690-5. (希少性筋難病である「縁取り空胞を伴う遠位型ミオパチー」の根本的治療法開発の可能性を、世界で初めて示しました)
  • Fujii K, Minami N, Hayashi YK, Nishino I, Nonaka I, Tanabe Y, Yakanashi J, Kohno Y.
    Homozygous female Becker muscular dystrophy.
    Am J Med Genet A. 2009 Apr 24;149A(5):1052-5.
  • Ramachandran N, Munteanu I, Wang P, Aubourg P, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA.
    VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
    Cell. 2009 Apr 17;137(2):235-46.
  • Liang WC, Ohkuma A, Hayashi YK, Lopez LC, Hirano M, Nonaka I, Noguchi S, Chen LH, Jong YJ, Nishino I.
    ETFDH mutations, CoQ(10) levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Neuromuscul Disord. 2009 Mar;19(3):212-6. Epub 2009 Feb 26.
  • Malicdan MC, Noguchi S, Nishino I.
    Monitoring Autophagy in Muscle Diseases.
    Methods Enzymol. 2009;453:379-396.
  • Ohkuma A, Noguchi S, Sugie H, Malicdan MC, Fukuda T, Shimazu K, Lopez LC, Hirano M, Hayashi YK, Nonaka I, Nishino I.
    Clinical and genetic analysis of lipid storage myopathies.
    Muscle Nerve. 2009 Feb 10;39(3):333-342.
  • Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I.
    Novel FHL1 mutations in fatal and benign reducing body myopathy.
    Neurology. 2009 Jan 27;72(4):375-6.
  • Park YE, Hayashi YK, Goto K, Nonaka I, Noguchi S, Nishino I.
    Nuclear changes in skeletal muscles extend to satellite cells in AD-EDMD/LGMD1B.
    Neuromuscul Disord. 2009 Jan;19(1):29-36. Epub 2008 Dec 12.
  • Dougu N, Joho S, Shan L, Shida T, Matsuki A, Uese K, Hirono K, Ichida F, Tanaka K, Nishino I, Inoue H.
    Novel LAMP-2 mutation in a family of Danon disease presenting with hypertrophic cardiomyopathy.
    Circ J. 2009 Feb;73(2):376-80. Epub 2008 Dec 5.
  • Lopez LC, Akman HO, Garcia-Cazorla A, Dorado B, Marti R, Nishino I, Tadesse S, Pizzorno G, Shungu D, Bonilla E, Tanji K, Hirano M.
    Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase deficient mice.
    Hum Mol Genet. 2009 Feb 15;18(4):714-22. Epub 2008 Nov 21.
  • Arimura T, Hayashi YK, Murakami T, Oya Y, Funabe S, Arikawa-Hirasawa E, Hattori N, Nishino I, Kimura A.
    Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.
    Circ J . 2009 Jan;73(1):158-61. Epub 2008 Nov 17.
  • Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I.
    Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1).
    Neuromuscul Disord. 2008 Dec;18(12):959-61. Epub 2008 Oct 25.
  • Ohkuma A, Nonaka I, Malicdan MC, Noguchi S, Nomura K, Sugie H, Hayashi YK, Nishino I.
    Distal lipid storage myopathy due to PNPLA2 mutation.
    Neuromuscul Disord. 2008 Aug;18(8):671-4. Epub 2008 Jul 26.

2008年

  • Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I.
    Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1).
    Neuromuscul Disord. 2008 Dec;18(12):959-61. Epub 2008 Oct 25.
  • Ohkuma A, Nonaka I, Malicdan MC, Noguchi S, Nomura K, Sugie H, Hayashi YK, Nishino I.
    Distal lipid storage myopathy due to PNPLA2 mutation.
    Neuromuscul Disord. 2008 Aug;18(8):671-4. Epub 2008 Jul 26.
  • Kawahara G, Ogawa M, Okada M, Malicdan MCV, Goto Y, Hayshi YK, Noguchi S, Nishino I.
    Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.
    Muscle Nerve. 2008 Sep;38(3):1192-5.
  • Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I.
    Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM.
    Physiol Genomics. 2008 Sep 17;35(1):106-15. Epub 2008 Jul 15.Affixin activates Rac1 via betaPIX in C2C12 myoblast.
  • Matsuda C, Kameyama K, Suzuki A, Mishima W, Yamaji S, Okamoto H, Nishino I, Hayashi Y.
    Affixin activates Rac1 via betaPIX in C2C12 myoblast.
    FEBS Lett. 2008 Apr 9;582(8):1189-96. Epub 2008 Mar 4.
  • Oishi M, Miki K, Morita A, Fujioka K, Aoki S, Nishino I, Nonaka I, Goto Y, Mizutani T.
    Mitochondrial encephaolopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy.
    Intern Med. 2008;47(5):441-4. Epub 2008 Mar 3.
  • Tanabe T, Fukusaki M, TeraoY, Yamashita K, Sumikawa K, Mukaida K, Ibarra CA, Nishino I.
    Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation.
    J Anesth. 2008;22(1):70-3. Epub 2008 Feb 27.
  • Okahashi S, Ogawa G, Suzuki M, Ogata K, Nishino I, Kawai M.
    Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT.
    Intern Med. 2008;47(5):441-4. Epub 2008 Mar 3.
  • Tunon T, Guerrero D, Urchaga A, Nishino I, Ayuso T, Matsuda Y, Caballero MC, Berj?n J, Imizcoz MA.
    Danon disease: A novel Lamp-2 gene mutation in a family with four affected members.
    Neuromuscul Disord. 2008 Feb;18(2):167-74. Epub 2007 Dec 3.
  • Mitsuhashi H, Futai E, Sasagawa N, Hayashi YK, Nishino I, Ishiura S.
    Csk-homologous kinase interacts with SHPS-1 and enhances neurite outgrowth of PC12 cells.
    J Neurochem. 2008 Apr;105(1):101-12. Epub 2007 Nov 12.
  • Takahashi N, Shimada T, Ishibashi Y, Yoshitomi H, Oyake N, Murakami Y, Nishino I, Nonaka I, Goto YI, Kitamura J.
    Marked left ventricular hypertrophy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
    Int J Cardiol. 2008 Oct 13;129(3):e77-e80. Epub 2007 Sep 25.
  • Sato I, Wu S, Ibarra M CA, Hayashi YK, Fujita H, Tojo M, Oh SJ, Nonaka I, Noguchi S, Nishino I.
    Congenital neuromuscular disease with uniform type 1 fiber associated with RYR1 mutation.
    Neurology. 2008 Jan 8;70(2):114-22. Epub 2007 May 30. (世界で初めて、先天性全タイプ1線維病の原因を明らかにしました) (当該号の"Highlights" および "Editorial"で取り上げられました)

2007年

  • 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):894-8.
  • 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):17016-21. 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):1043-9.
  • 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):1035-42.
  • 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):804-6.
  • 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):2669-82. 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):1038-41.
  • 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):819-22.
  • 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):757-60. 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):513-21. 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):1884-95. 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):618-29. 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):396-8. 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):322-6.
  • 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):112-6. Epub 2006 Aug 21.

2006年

  • FukamiM, 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):1369-71. 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. (新しい肢帯型筋ジストロフィーを報告し、LGMD2Lと名付けられました)
  • 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):234-8. Epub 2006 Oct 20
  • Nishino I.
    Autophagic vacuolar myopathy.
    Semin Peditr Neurol. 2006 Jun;13(2):90-5.
  • 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):1129-39.
  • 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):775-8.
  • 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):1146-54.
  • 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):1470-80. 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):256-61. 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):274-6. 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):1279-89. 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):907-17.
  • 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):458-61. 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):202-5. Epub 2006 Jan 18.

2005年

  • Murakami N, Sakuta R, Takahashi E, Katada Y, Nagai T, Owada M, Nishino I, Nonaka I.
    Early onset distal muscular dystrophy with normal dysferlin expression.
    Brain Dev. 2005 Dec;27(8):589-91.
  • Torelli S, Brown SC, Brockington M, Dolatshad NF, Jimenez C, Skordis L, Feng LH, Merlini L, Hilton Jones D, Romero N, Ulla W, Voit T, Sewry CA, Noguchi S, Nishino I, Muntoni F.
    Sub-cellular localization of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.
    Neuromuscul Disord. 2005 Dec;15(12):836-43. Epub 2005 Nov 8.
  • Yan C, Tanaka M, Sugie K, Nobutoki T, Woo M, Murase N, Higuchi Y, Noguchi S, Nonaka I, Hayashi YK, Nishino I.
    A new congenital form of X-linked autophagic vacuolar myopathy.
    Neurology. 2005 Oct 11;65(7):1132-4.
  • Eskelinen EL, Cuervo AM, Taylor MRG, Nishino I, Blum JS, Dice JF, Sandoval IV, Lippincott-Schwartz J, August JT, Saftig P.
    Unifying nomenclature for the isoforms of the lysosomal membrane protein LAMP-2.
    Traffic. 2005 Nov;6(11):1058-61.
  • Sakuta R, Murakami N, Jin Y, Ngai T, Nonaka I, Nishino I.
    Diagnostic significance of membrane attack complex and vitronectin in childhood dermatomyositis.
    J Child Neurol. 2005 Jul;20(7):597-602.
  • Noguchi S, Fujita M, Murayama K, Kurokawa R, Nishino I.
    Gene expression analyses in X-linked myotubular myopathy.
    Neurology. 2005 Sep 13;65(5):732-7.
  • Nakagawa O, Arnold M, Nakagawa M, Hamada H, Shelton JM, Kusano H, HarrisTM, Childs G, Campbell KP, Richardson JA, Nishino I, Olson EN.
    Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2.
    Genes Dev. 2005 Sep 1;19(17):2066-77.
  • Sugie K, Noguchi S, Kozuka Y, Arikawa-Hirasawa E, Tanaka M, Yan C, Saftig P, von Figura K, Hirano M, Ueno S, Nonaka I, Nishino I.
    Autophagic vacuoles with sarcolemmal delineate Danon disease and related myopathies.
    J Neuropathol Exp Neurol. 2005 Jun;64(6):513-22.
  • Matsuda C, Kameyama K, Tagawa K, Ogawa M, Suzuki A, Yamaji S, Okamoto H, Nishino I, Hayashi YK.
    Dysferlin interacts with affixin (beta-parvin) at the sarcolemma.
    J Neuropathol Exp Neurol. 2005 Apr;64(4):334-40.
  • Amouri R, Driss A, Murayama K, Kefi M, Nishino I, Hentati F.
    Allelic heterogeneity of GNE gene mutation in two Tunnisian families.
    Neuromuscul Disord. 2005 May;15(5):361-3.
  • Matsumoto H, Hayashi YK, Kim DS, Ogawa M, Murakami T, Noguchi S, Nonaka I, Nakazawa T, Matsuo T, Futagami S, Campbell KP, Nishino I.
    Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
    Neuromuscul Disord. 2005 May;15(5):342-8.
  • Goh KJ, Wong KT, Nishino I, Minami N, Nonaka I.
    Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.
    Neuromuscul Disord. 2005 Mar;15(3):262-4. Epub 2005 Jan 28.
  • Tsai TC, Horinouchi H, Noguchi S, Minami N, Murayama K, Hayashi YK, Nishino I.
    Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
    Neuromuscul Disord. 2005 Mar;15(3):245-52. Epub 2005 Jan 28.
    15: 245-252, 2005.

2004年

  • Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi YK, Nonaka I, Nishino I.
    Two novel CAV3 gene mutations in Japanese LGMD1C patients.
    Neuromuscul Disord. 2004 Dec;14(12):810-4.
  • Kawabe K, Goto K, Nishino I, Angelini C, Hayashi YK.
    Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.
    Eur J Neurol. 2004 Oct;11(10):657-61.
  • Matsumoto H, Noguchi S, Sugie K, Ogawa M, Murayama K, Hayashi YK, Nishino I.
    Subcellular localization of fukutin and fukutin-related protein in muscle cells.
    J Biochem. 2004 Jun;135(6):709-12.
  • 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.
    A new diagnostic test for VLCAD deficiency using immunohistochemistry.
    Neurology. 2004 Jun 22;62(12):2209-13.
  • Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, Moore SA, Zhang W, Schachter H, Dumanski JP, Cohn RD, Nishino I, Campbell KP.
    LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.
    Nat Med. 2004 Jul;10(7):696-703. Epub 2004 Jun 6.
  • Yamanaka G, Goto K, Oya Y, Miyajima T, Hoshika A, Nishino I, Hayashi YK.
    FSHD-like patients without 4q35 deletion.
    J Neurol Sci. 2004 Apr 15;219(1-2):89-93.
  • Kim DS, Hayashi YK, Matsumoto H, Ogawa M, Noguchi S, Murakami N, Sakuta R, Mochizuki M, Michele DE, Campbell KP, Nonaka I, Nishino I.
    Abnormal glycosylation of alpha-dystroglycan due to POMT1 gene mutation in a Japanese patient with Walker-Warburg syndrome.
    Neurology. 2004 Mar 23;62(6):1009-11.
  • Ishikawa H, Sugie K, Murayama K, Awaya A, Suzuki Y, Hayashi YK, Nonaka I, Nishino I.
    Ullrich disease due to deficiency of collagen VI in the sarcolemma.
    Neurology. 2004 Feb 24;62(4):620-3. (当該号のHighlight and Commentaryに採用されました)
  • Goto K, Nishino I, Hayashi YK.
    Greatly low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A.
    J Med Genet. 2004 Jan;41(1):e12.
  • Noguchi S, Keira Y, Murayama K, Ogawa M, Fujita M, Kawahara G, Oya Y, Imazawa M, Goto Y, Hayashi YK, Nonaka I, Nishino I.
    Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
    J Biol Chem. 2004 Mar 19;279(12):11402-7. Epub 2004 Jan 5. (縁取り空胞を伴う遠位型ミオパチーが培養細胞レベルで治療可能なことを世界で初めて証明しました)

2003年

2002年

2001年

2000年以前

Last update 9/15/2009