Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH.
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
Am J Hum Genet.2013 Dec 5;93(6):1108-1117. Epub 2013 Nov 21.
Fujimoto S, Manabe Y, Fujii D, Kozai Y, Matsuzono K, Takahashi Y, Narai H, Omori N, Adachi K, Nanba E, Nishino I, Abe K.
A Novel Mutation of the GAA Gene in a Patient with Adult-onset Pompe Disease Lacking a Disease-specific Pathology.
Intern Med. 2013;52(21):2461-2464.
Takeuchi F, Yonemoto N, Nakamura H, Shimizu R, Komaki H, Mori-Yoshimura M, Hayashi YK, Nishino I, Kawai M, Kimura E, Takeda S.
Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients.
J Neurol.2013 Dec;260(12):3023-3029. Epub 2013 Sep 22.
Cho A , Hayashi YK, Monma K, Oya Y, Noguchi S, Nonaka I, Nishino I.
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
J Neurol Neurosurg Psychiatry. 2014 Aug;85(8):912-915. Epub 2013 Sep 11.
Motoki T, Fukuda M, Nakano T, Matsukage S, Fukui A, Akiyoshi S, Hayashi YK, Ishii E, Nishino I. Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: A case report.
Neuromuscul Disord.2013 Nov;23(11):917-921. Epub 2013 Sep 4.
Nalini A, Gayathri N, Nishino I, Hayashi YK.
GNE myopathy in India.
Neurol India.2013 Jul-Aug;61(4):371-374.
Mitsuhashi S, Nishino I.
Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β. Curr Opin Neurol. 2013 Oct; 26(5):536-543
Liang WC, Nishino I.
Riboflavin ‐responsive multiple acyl‐ CoA dehydrogenase deficiency: A frequent condition in Southern Chinese population. Neurology and Clinical Neuroscience. Sep, 2013 Sep; 1(5): 163-167
Koebis M, Kiyatake T, Yamaura H, Nagano K, Higashihara M, Sonoo M, Hayashi Y, Negishi Y, Endo-Takahashi Y, Yanagihara D, Matsuda R, Takahashi MP, Nishino I, Ishiura S.
Ultrasound-enhanced delivery of Morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model mice.
Sci Rep.2013 Jul 22;3:2242.
Kurashige T, Takahashi T, Yamazaki Y, Nagano Y, Kondo K, Nakamura T, Yamawaki T, Tsuburaya R, Hayashi YK, Nonaka I, Nishino I, Matsumoto M.
Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.
Neuromuscul Disord.2013 Nov;23(11):911-916. Epub 2013 Jul 11.
Oana K, Oma Y, Suo S, Takahashi MP, Nishino I, Takeda S, Ishiura S. Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice. Sci Rep.2013 Jul 5;3:2142.
Chou PC, Liang WC, Nonaka I, Mitsuhashi S, Nishino I, Jong YJ.
Intranuclear rods myopathy with autonomic dysfunction. Brain Dev. 2013 Aug;35(7):686-689. Epub 2012 Oct 25.
Ishiyama A, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Itagaki Y, Matsuzaki K, Nakura M, Nishino I, Goto YI, Sasaki M.
Unusual exocrine complication of pancreatitis in mitochondrial disease. Brain Dev. 2013 Aug;35(7):654-659. Epub 2012 Nov 22.
Liang WC, Hayashi YK, Ogawa M, Wang CH, Huang WT, Nishino I, Jong YJ.
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. Neuromuscul Disord.2013 Aug;23(8):675-681. Epub 2013 Jun 22.
Nemazanyy I, Blaauw B, Paolini C, Caillaud C, Protasi F, Mueller A, Proikas-Cezanne T, Russell RC, Guan KL, Nishino I, Sandri M, Pende M, Panasyuk G.
Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease. EMBO Mol Med.2013 Jun; 5(6):870-90. Epub 2013 Apr 30.
Tanabe Y, Fujita E, Hayashi YK, Zhu X, Lubbert H, Mezaki Y, Senoo H, Momoi T.
Synaptic adhesion molecules in Cadm family at the neuromuscular junction. Cell Biol Int.2013 Jul; 37(7):731-736. Epub 2013 Apr 18.
Quinlivan R, Mitsuahashi S, Sewry C, Cirak S, Aoyama C, Mooore D, Abbs S, Robb S, Newton T, Moss C, Birchall D, Sugimoto H, Bushby K, Guglieri M, Muntoni F, Nishino I, Straub V.
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype. Neuromuscul Disord.2013 Jul;23(7):549-556. Epub 2013 May 18.
Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allc ock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG.
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy. Am J Hum Genet. 2013 Jul 11;93(1):6-18. Epub 2013 Jun 6.
Matsuura T, Kurosaki T, Omote Y, Minami N, Hayashi YK, Nishino I, Abe K.
Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy. J Hum Genet. 2013 Aug;58(8):564-565. Epub 2013 May 16.
Nakamura H, Kimura E, Mori-Yoshimura M, Komaki H, Matsuda Y, Goto K, Hayashi YK, Nishino I, Takeda SI, Kawai M.
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy). Orphanet J Rare Dis. 2013 Apr 19;8(1):60. [Epub ahead of print]
Cho A, Noguchi S.
Autophagy in GNE myopathy. Autophagy – A Double-Edged Sword – Cell Survival or Death? (Ed. Yannick Bailly), InTech, Croatia, pp141-161, Apr, 2013
Wang CH, Liang WC, Minami N, Nishino I, Jong YJ.
Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan. Pediatr Neonatol.2015 Feb;56(1):62-5. Epub 2013 Mar 7
Yonekawa T, Komaki H, Okada M, Hayashi YK, Nonaka I, Sugai K, Sasaki M, Nishino I
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. J Neurol Neurosurg Psychiatry.2013 Sep;84(9):982-988. Epub 2013 Apr 9.
Fischer C, Kleinschnitz K, Wrede A, Muth I, Kruse N, Nishino I, Schmidt J.
Cell stress molecules in the skeletal muscle of GNE myopathy. BMC Neurol. 2013 Mar 12;13(1):24. Epub 2013 Mar 12.
Murakami N, Hayashi YK, Oto Y, Shiraishi M, Itabashi H, Kudo K, Nishino I, Nonaka I, Nagai T. Congenital generalized lipodystrophy type 4 with muscular dystrophy: Clinical and pathological manifestations in early childhood. Neuromuscul Disord. 2013 May;23(5):441-444. Epub 2013 Mar 13.
Chen TH, Lai YH, Lee PL, Hsu JH, Goto K, Hayashi YK, Nishino I, Lin CW, Shih HH, Huang CC, Liang WC, Wang WF, Jong YJ. Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment. Neuromuscul Disord. 2013 Apr;23(4):298-305. Epub 2013 Feb 21.
Sato T, Hayashi YK, Oya Y, Kondo T, Sugie K, Kaneda D, Houzen H, Yabe I, Sasaki H, Noguchi S, Nonaka I, Osawa M, Nishino I. DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions. Neuromuscul Disord. 2013 Mar;23(3):269-276. Epub 2013 Feb 6.
Liang WC, Nishino I. Daily or alternative, that is the question: steroid therapy for Duchenne muscular dystrophy patients. J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):591.
Epub 2013 Jan 25.
Stenzel W, Nishino I, von Moers A, Kadry MA, Glaeser D, Heppner FL, Goebel HH. Juvenile autophagic vacuolar myopathy- a new entity or variant? Neuropathol Appl Neurobiol. 2013 Jun;39(4):449-453.
Ramachandran N, Munteanu I, Wang P, Ruggieri A, 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 prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol.2013 Mar;125(3):439-457. Epub 2013 Jan 12.
Furuta A, Wakabayashi K, Haratake J, Kikuchi H, Kabuta T, Mori F, Tokonami F, Katsumi Y, Tanioka F, Uchiyama Y, Nishino I, Wada K. Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease. Acta Neuropathol. 2013 Mar;125(3):459-461. Epub 2012 Dec 23.
Kakisaka Y, Haginoya K, Takahashi Y, Ochiai T, Fujiwara I, Kikuchi A, Wakusawa K, Kobayashi S, Kikuchi H, Ichihara Y, Takahashi S, Nishino I. Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations. Am J Med Genet A. 2013 Jan;161(1):234-235. Epub 2012 Dec 13.
Mori-Yoshimura M, Oya Y, Hayashi YK, Noguchi S, Nishino I, Murata M.
Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles). Neuromuscul Disord. 2013 Jan;23(1):84-88. Epub 2012 Nov 2.