研究業績

【2012年/2011年/2010年/2009年/2008年/2007年/2006年/2005年/2004年/2003年/2002年/2001年/2000年以前】

国際学術誌に掲載された主な論文

2012年

  • Matsuura T, Minami N, Arahata H, Ohno K, Abe K, Hayashi YK, Nishino I.
    Myotonic dystrophy type 2 is rare in the Japanese population.
    J Hum Genet. 2012 Jan 19. doi: 10.1038/jhg.2011.152. [Epub ahead of print] No abstract available.
  • Hattori A, Komaki H, Kawatani M, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Hayashi YK, Nonaka I, Nishino I.
    A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement.
    Neuromuscul Disord.2012 Feb;22(2):149-51. Epub 2012 Jan 11.
  • Malicdan MC, Noguchi S, Tokutomi T, Goto Y, Nonaka I, Hayashi YK, Nishino I.
    Peracetylated N-Acetylmannosamine, a Synthetic Sugar Molecule, Efficiently Rescues Muscle Phenotype and Biochemical Defects in Mouse Model of Sialic Acid-deficient Myopathy.
    J Biol Chem. 2012 Jan 20;287(4):2689-705. Epub 2011 Dec 8.
  • Malicdan MC, Nishino I.
    Autophagy in lysosomal myopathies.
    Brain Pathol. 2012 Jan;22(1):82-8.doi:10.1111/j.1750-3639. 2011. 00543.x.
  • Fujita M, Mitsuhashi H, Isogai S, Nakata T, Kawakami A, Nonaka I, Noguchi S, Hayashi YK, Nishino I, Kudo A.
    Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro.
    Dev Biol. 361(1): 79-89, Jan, 2012.
  • Sukigara S, Liang WC, Komaki H, Fukuda T, Miyamoto T, Saito T, Saito Y, Nakagawa E, Sugai K, Hayashi YK, Sugie H, Sasaki M, Nishino I.
    Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia.
    Neuromuscul Disord. 22(2): 162-165, Jan, 2012.
  • Sugai F, Baba K, Toyooka K, Liang WC, Nishino I, Yamadera M, Sumi H, Fujimura H, Nishikawa.
    Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase.
    Neuromuscul Disord. 22(2): 159-161, Jan, 2012.

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2011年

  • Tsuburaya RS, Monma K, Oya Y, Nakayama T, Fukuda T, Sugie H, Hayashi YK, Nonaka I, Nishino I.
    Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.
    Neuromuscul Disord. 2011 Dec 21. [Epub ahead of print]
  • Muraoka T, Murao K, Imachi H, Kikuchi F, Yoshimoto T, Iwama H, Hosokawa H, Nishino I, Fukuda T, Sugie H, Adachi K, Nanba E, Ishida T.
    Novel mutations in the gene encoding acid α-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence.
    Intern Med. 2011;50(24):2987-91. Epub 2011 Dec 15.
  • Shi Z, Hayashi YK, Mitsuhashi S, Goto K, Kaneda D, Choi YC, Toyoda C, Hieda S, Kamiyama T, Sato H, Wada M, Noguchi S, Nonaka I, Nishino I.
    Characterization of the Asian myopathy patients with VCP mutations.
    Eur J Neurol. 2011 Oct 31. doi: 10.1111/j.1468-1331.2011.03575.x. [Epub ahead of print]
  • Mitsuhashi S, Nishino I.
    Phospholipid synthetic defect and mitophagy in muscle disease.
    Autophagy. 7(24): 1559-1561, Dec, 2011.
  • Mizoi Y, Yamamoto T, Minami N, Ohkuma A,Nonaka I, Nishino I, Tamura N, Amano T, Araki N.
    Oculopharyngeal muscular dystrophy associated with dementia.
    Intern Med. 2011 Oct;50(20): 2409-2412. Epub 2011 Oct 15.
  • 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.
    Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.
    J Inherit Metab Dis. 2011 Oct 7 [Epub ahead of print]
  • Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T.
    Eponym: Barth syndrome.
    Eur J Pediatr. 2011 Nov;170(11): 1365-1367. Epub 2011 Sep 23.
  • Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T.
    Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium.
    Eur J Pediatr. 2011 Nov;170(11): 1481-1484. Epub 2011 Sep 20.
  • Suzuki N, Aoki M, Mori-Yoshimura M, Hayashi YK, Nonaka I, Nishino I.
    Increase in number of sporadic inclusion body myositis (sIBM) in Japan.
    J Neurol. 2011 Jul 29. [Epub ahead of print]
  • Koebis M, Ohsawa N, Kino Y, Sasagawa N, Nishino I, Ishiura S.
    Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1.
    Genes Cells. 2011 Sep; 6(9): 961-972. Epub 2011 Jul 28.
  • Suzuki S, Ohta M, Shimizu Y, Hayashi YK, Nishino I.
    Anti-signal recognition particle myopathy in the first decade of life.
    Pediatr Neurol. 2011 Aug;45(2):114-6.
  • Mitsuhashi S, Hatakeyama H, Karahashi M, Koumura T, Nonaka I, Hayashi YK, Noguchi S, Sher RB, Nakagawa Y, Manfredi G, Goto YI, Cox GA, Nishino I .
    Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
    Hum Mol Genet. 2011 Oct;20(19): 3841-3851. Epub 2011 Jul 12.
  • Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I.
    A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
    Am J Hum Genet. 2011 Jun 10;88(6):845-51.
  • Komaki H, Hayashi YK, Tsuburaya R, Sugie K, Kato M, Nagai T, Imataka G, Suzuki S, Saitoh S, Asahina N, Honke K, Higuchi Y, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nonaka I, Nishino I.
    Inflammatory changes in infantile-onset LMNA-associated myopathy.
    Neuromuscul Disord. 2011 Aug;21(8): 563-568. Epub 2011 May 31.
  • Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y,Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, de Munain AL, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N.
    Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
    Nat Med. 2011 Jun; 17(6): 720-725 Epub 2011 May 29.
  • Ohsawa N, Koebis M, Suo S, Nishino I, Ishiura S.
    Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy.
    Biochem Biophys Res Commun. 2011 May 27;409(1):64-9. Epub 2011 Apr 28.
  • Tsuburaya R, Suzuki T, Saiki K, Nonaka I, Sugita H, Hayashi YK, Nishino I.
    Lobulated fibers in a patient with 46-year history of limb-girdle muscle weakness.
    Neuropathology. 2011 Aug;31(4): 455-457. Epub 2011 Apr 26.
  • Cowling BS, Toussaint A, Amoasii L, Koebel P, Ferry A, Davignon L, Nishino I, Mandel JL, Laporte J.
    Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.
    Am J Pathol. 2011 May;178(5):2224-35.
  • Saito Y, Komaki H, Hattori A, Takeuchi F, Sasaki M, Kawabata K, Mitsuhashi S, Tominaga K, Hayashi YK, Nowak KJ, Laing NG, Nonaka I, Nishino I.
    Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.
    Neuromuscul Disord. 2011 Jul;21(7): 489-493. Epub 2011 Apr 21.
  • Kawashima H, Ishii C, Yamanaka G, Ioi H, Nishimata S, Kashiwagi Y, Takekuma K, Miyajima T, Hoshika A, Nishino I, Nonaka I.
    Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest.
    Pediatr Int. 2011 Apr;53(2):159-61.
  • Kubota T, Roca X, Kimura T, Kokunai Y, Nishino I, Sakoda S, Krainer AR, Takahashi MP.
    A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.
    Hum Mutat. 2011 Jul;32(7): 773-782. Epub 2011 Apr 28.
  • Maki T, Matsumoto R, Kohara N, Kondo T, Son I, Mezaki T, Nishino I, Ikeda A, Takahashi R.
    Rippling is not always electrically silent in rippling muscle disease.
    Muscle Nerve. 2011 Apr;43(4):601-5.
  • Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK.
    TMEM43 mutations in emery-dreifuss muscular dystrophy-related myopathy.
    Ann Neurol. 2011 Jun;69(6): 1005-1013. Epub 2011 Mar 9.
  • Yoda M, Tanabe H, Nishino I, Suma H.
    Left ventriculoplasty for dilated cardiomyopathy in Fukuyama-type muscular dystrophy.
    Eur J Cardiothorac Surg.2011 Aug;40(2): 514-516. Epub 2011 Jan 26.
  • Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J.
    Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
    Acta Neuropathol. 2011 Feb;121(2):253-66. Epub 2010 Oct 7.
  • Liang WC, Nishino I.
    Lipid storage myopathy.
    Curr Neurol Neurosci Rep. 2011 Feb;11(1):97-103.

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2010年

  • Liang WC, Nishino I.
    State of the art in muscle lipid diseases.
    Acta Myol. 2010 Oct;29(2):351-6.
  • Mimaki M, Hatakeyama H, Komaki H, Yokoyama M, Arai H, Kirino Y, Suzuki T, Nishino I, Nonaka I, Goto Y.
    Reversible infantile respiratory chain deficiency: a clinical and molecular study.
    Ann Neurol. 2010 Dec;68(6):845-54.
  • Ishii K, Komaki H,Ohkuma A, Nishino I, Nonaka I, Sasaki M.
    Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Brain Dev. 2010 Sep;32(8):669-72. Epub 2009 Sep 26.
  • Mitsuhashi H, Hayashi YK, Matsuda C, Noguchi S, Wakatsuki S, Araki T, Nishino I.
    Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.
    J Cell Sci. 2010 Nov 15;123(Pt 22):3893-900. Epub 2010 Oct 27.
  • Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice A, Hattori N, Tsuji S.
    Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines.
    Am J Hum Genet. 2010 Jul 9;87(1):75-89.
  • Crotzer V, Glosson N, Zhou D, Nishino I, Blum J.
    LAMP-2-deficient human B cells exhibit altered MHC class II presentation of exogenous antigens.
    Immunology. 2010 Nov;131(3):318-30.
  • Kim H, Cho A, Lim BC, Kim MJ, Kim KJ, Nishino I, Hwang YS, Chae JH.
    A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon Disease.
    Muscle Nerve. 2010 Jun;41(6):879-82.
  • Iwabu M, Yamauchi T, Okada-Iwabu M, Sato K, Nakagawa T, Funata M, Yamaguchi M, Namiki S, Nakayama R, Tabata M, Ogata H, Kubota N, Takamoto I, Hayashi YK, Yamauchi N, Waki H, Fukayama M, Nishino I, Tokuyama K, Ueki K, Oike Y, Ishii S, Hirose K, Shimizu T, Touhara K, Kadowaki T.
    Adiponectin and AdipoR1 regulate PGC-1alpha and mitochondria by Ca2+ and AMPK/SIRT1.
    Nature. 2010 Apr 29;464(7293):1313-9. Epub 2010 Mar 31.
  • Tominaga K, Hayashi YK, Goto K, Minami N, Noguchi S, Nonaka I, Miki T, Nishino I.
    Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.
    Acta Neuropathol. 2010 Apr;119(4):481-6. Epub 2010 Feb 24.
  • Yamazaki Y，Kamei Y, Sugita S, Akaike F, Kanai S, Miura S, Hirata Y, Troen BR, Kitamura T, Nishino I, Suganami T, Ezaki O, Ogawa Y.
    The cathepsin L gene is a direct target of FOXO1 in the skeletal muscle.
    Biochem J. 2010 Mar 15;427(1):171-8.
  • Malicdan MC, Noguchi S, Nishino I.
    A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review.
    Ther Adv Neurol Disord. 2010;3(2):127-35.
  • Okanishi T, Ishikawa T, Kobayashi S, Ando N, Nishino I, Togari H, Nonaka I.
    Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy: Two sibling cases.
    Brain Dev. 2010 Apr;32(4):342-6. Epub 2009 Dec 22.

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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）
  • 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.

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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)

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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.

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2006年

  • 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):1369-71. 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.

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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.

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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 facioscapulo-humeral 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-acetyl-mannosamine 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)

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2003年

  • Sugie K, Koori T, Yamamoto A, Ogawa M, Hirano M, Inoue K, Nonaka I, Nishino I.
    Characterization of Danon disease in a man and his affected mother.
    Neuromuscul Disord. 2003 Nov;13(9):708-11.
  • Ishikawa H, Nonaka I, Nishino I.
    Negative result in search for human alpha-dystrobrevin deficiency.
    Muscle Nerve. 2003 Sep;28(3):387-8.
  • Hayashi YK.
    Membrane-repair machinery and muscular dystrophy.
    Lancet. 2003 Sep 13;362(9387):843-4.
  • Nambu M, Kawabe K, Fukuda T, Okuno TB, Ohta S, Nonaka I, Sugie H, Nishino I.
    A neonatal form of glycogen storage disease type IV with a nucleotide deletion in GBE1 gene.
    Neurology. 2003 Aug 12;61(3):392-4.
  • Kaneda D, Sugie K, Yamamoto A, Matsumoto H, Kato T, Nonaka I, Nishino I.
    A novel form of autophagic vacuolar myopathy with late-onset and multi-organ involvement.
    Neurology. 2003 Jul 8;61(1):128-31.
  • Keira Y, Noguchi S, Minami N, Hayashi YK, Nishino I.
    Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle.
    J Biochem. 2003 May;133(5):659-64.
  • Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I, Hayashi YK.
    Protein and gene analysis of dysferlinopathy in a large group of Japanese muscular dystrophy patients.
    J Neurol Sci. 2003 Jul 15;211(1-2):23-8.
  • Driss A, Noguchi S, Amouri R, Kefi M, Sasaki T, Sugie K, Souilem S, Hayashi YK, Shimizu N, Minoshiima S, Kudoh J, Hentati F, Nishino I.
    Fukutin-related protein gene mutated in the original kindred with limb-girdle MD 2I.
    Neurology . 2003 Apr 22;60(8):1341-4.
    (当該号のEditorialsおよびHighlightsに採用されました)
  • Noguchi S, Tsukahara T, Fujita M, Kurokawa R, Tachikawa M, Toda T, Tsujimoto A, Arahata K, Nishino I.
    cDNA microarray analysis of individual Duchnne muscular dystrophy patients.
    Hum Mol Genet. 2003 Mar 15;12(6):595-600.
    (当該号のcover articleに採用されました)
  • Nishino I.
    Autophagic vacuolar myopathies.
    Curr Neurol Neurosci Rep. 2003 Jan;3(1):64-9.

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2002年

  • Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, Ohi T, Nishimiya J, Sunohara N, Ciafaloni E, Kawai M, Aoki M, Nonaka I.
    Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
    Neurology. 2002 Dec 10;59(11):1689-93.
    (当該号のEditorialsに採用されました)
  • Ishikawa H, Sugie K, Murayama K, Ito M, Minami N, Nishino I, Nonaka I.
    Ullrich disease: Collagen VI deficiency. EM suggests a new basis for muscular weakness.
    Neurology. 2002 Sep 24;59(6):920-3.
    (当該号のHighlightsに採用されました)
  • Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kellely RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP.
    Posttranslational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.通
    Nature. 2002 Jul 25;418(6896):417-22.
  • Sugie K, Yamamoto A, Murayama K, Takahashi M, Mora M, Riggs JE, Oh SJ, Colomer J, Inturriaga C, Saitoh S, Byrne E, DiMauro S, Noanka I, Hirano M, Nishino I.
    Clinicopathological features of genetically confirmed Danon disease.
    Neurology. 2002 Jun 25;58(12):1773-8.
  • Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas, MC, Yamada Y.
    Structural and functional mutations of the Perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
    Am J Hum Genet. 2002 May;70(5):1368-75.

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2001年

  • Ikemoto-Tsuchiya K, Nishino I, Kawai M, Morimatsu M, Nonaka I.
    A new form of muscular dystrophy with mitochondrial structural abnormalities.
    Muscle Nerve. 2001 Dec;24(12):1710-1.
  • Yamamoto A, Morisawa Y, Verloes A, Hirano M, Nonaka I, Nishino I.
    Infantile autophagic vacuolar myopathy is distinct from Danon disease.
    Neurology. 2001 Sep 11;57(5):903-5.
  • Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Brown Jr RH.
    The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
    um Mol Genet. 2001 Aug 15;10(17):1761-6.
  • Hayashi YK, Ogawa M, Tagawa K, Noguchi S, Ishihara T, Nonaka I, Arahata K.
    Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.
    Neurology. 2001 Jul 10;57(1):115-21.
  • Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K.
    The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.
    Hum Mol Genet. 2001 May 15;10(11):1129-39.

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2000年以前

  • Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, Bonilla E, Nonaka I, DiMauro S, Hirano M.
    Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
    Nature. 2000 Aug 24;406(6798):906-10.
  • Papadopoulou LC, Sue CM, Davidson M, Tanji K, Nishino I, Sadlock J, Selby J, Glerum DM, Van Coster R, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA.
    Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a human COX assembly gene.
    Nat Genet. 1999 Nov;23(3):333-7.
  • Nishino I, Spinazzola A, Hirano M.
    Thymidine phosphorylase gene mutations associated with MNGIE, a human mitochondrial disorder.
    Science. 1999 Jan 29;283(5402):689-92.
  • Hayashi YK, Chou FL, Engvall E, Ogawa M, Matsuda C, Hirabayashi S, Yokochi K, Ziober BL, Kramer RH, Kaufman SJ, Ozawa E, Goto Y, Nonaka I, Tsukahara T, Wang JZ, Hoffman EP, Arahata K.
    Mutations in the integrin alpha7 gene cause congenital myopathy.
    Nat Genet. 1998 May;19(1):94-7.
  • Hayashi YK, Ishihara T, Domen K, Hori H, Arahata K.
    A benign allelic form of laminin alpha 2 chain deficient muscular dystrophy.
    Lancet. 1997 Apr 19;349(9059):1147.
  • Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K.
    Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy.
    Nat Genet. 1996 Mar;12(3):254-9.
  • Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, B?nnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E.
    Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
    Science. 1995 Nov 3;270(5237):819-22.
  • Arahata K, Hayashi YK, Mizuno Y, Yoshida M, Ozawa M.
    Dystrophin-associated glycoprotein and dystrophin co-localisation at sarcolemma in Fukuyama congenital muscular dystrophy.
    Lancet. 1993 Sep 4;342(8871):623-4.
  • Arahata K, Ishihara T, Kamakura K, Tsukahara T, Ishiura S, Baba C, Matsumoto T, Nonaka I, Sugita H.
    Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy.
    N Engl J Med. 1989 Jan 19;320(3):138-42.
  • Arahata K, Ishiura S, Ishiguro T, Tsukahara T, Suhara Y, Eguchi C, Ishihara T, Nonaka I, Ozawa E, Sugita H.
    Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide.
    Nature. 1988 Jun 30;333(6176):861-3.