Furusawa Y, Mitsuhashi S, Mori-Yoshimura M, Shimada Y, Yamamoto T, Shibuya M, Shimizu J, Ohashi T, Saito Y, Nishino I, Oya Y, Murata M.
Late-onset Pompe disease after 4 years of enzyme replacement therapy: An autopsy case. Neurology and Clinical Neuroscience. 2014 Jan: 2(1): 7-9
De Bleecker JL, De Paepe B, Aronica E, de Visser M; ENMC Myositis Muscle Biopsy Study Group, Amato A, Aronica E, Benveniste O, De Bleecker J, de Boer O, De Paepe B, de Visser M, Dimachkie M, Gherardi R, Goebel HH, Hilton-Jones D, Holton J, Lundberg IE, Mammen A, Mastaglia F, Nishino I, Rushing E, Daa Schroder H, Selcen D, Stenzel W.
205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28-30 March 2014, Naarden, The Netherlands. Neuromuscul Disord. 2014 Dec 10.
Mori-Yoshimura M, Hayashi YK, Yonemoto N, Nakamura H, Murata M, Takeda SI, Nishino I, Kimura E. Nationwide patient registry for GNE myopathy in Japan. Orphanet J Rare Dis. 2014 Oct 11;9(1):150.
Falcone S, Roman W, Hnia K, Gache V, Didier N, Lainé J, Auradé F, Marty I, Nishino I, Charlet-Berguerand N, Romero NB, Marazzi G, Sassoon D, Laporte J, Gomes ER. N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy. EMBO Mol Med.2014 Nov; 6(11):1455-1475. Epub 2014 Sep 28.
Ojima K, Ono Y, Hata S, Noguchi S, Nishino I, Sorimachi H. Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction. Genes Cells.2014 Nov;19(11):830-841. Epub 2014 Sep 24.
Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest.2014 Nov 3; 124(11):4693-4708. Epub 2014 Sep 24.
Wada E, Yoshida M, Kojima Y, Nonaka I, Ohashi K, Nagata Y, Shiozuka M, Date M, Higashi T, Nishino I, Matsuda R. Dietary Phosphorus Overload Aggravates the Phenotype of the Dystrophin-Deficient mdx Mouse. Am J Pathol. 2014;184(11):3094-3104. Epub 2014 Aug 28.
Suzuki S, Yonekawa T, Kuwana M, Hayashi YK, Okazaki Y, Kawaguchi Y, Suzuki N, Nishino I. Clinical and histological findings associated with autoantibodies detected by RNA immunoprecipitation in inflammatory myopathies. J Neuroimmunol. 2014 Sep 15;274(1-2):202-208. Epub 2014 Jul 17.
Uchiyama SI, Nishino I, Izumi T. The muscle findings in a pediatric patient with live attenuated oral polio vaccine-related flaccid monoplegia. Vaccine. 2014 Sep 22;32(42):5379-5381. Epub 2014 Aug 12.
Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto YI, Nishino I, Ohtake A, King MC, Matsumoto N. A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. J Hum Genet .2014 Oct;59(10):581-583. Epub 2014 Aug 7.
Yonekawa T, Malicdan MC, Cho A, Hayashi YK, Nonaka I, Mine T, Yamamoto T, Nishino I, Noguchi S. Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice. Brain. 2014 Oct;137(10):2670-2679. Epub 2014 Jul 24.
Fujii T, Hayashi S, Kawamura N, Higuchi MA, Tsugawa J, Ohyagi Y, Hayashi YK, Nishino I, Kira JI.
A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles. J Neurol Sci. 2014 Aug 15;343(1-2):206-210. Epub 2014 Jun 2.
Noguchi S, Ogawa M, Kawahara G, Malicdan MC, Nishino I.
Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts. Mol Ther Nucleic Acids.2014 Jun 24;3:e 171.
Miyatake S, Koshimizu E, Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, Matsumoto N.
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy. Neuromuscul Disord.2014 Jul;24(7):642-647. Epub 2014 Apr 24.
Goto M, Okada M, Komaki H, Sugai K, Sasaki M, Noguchi S, Nonaka I, Nishino I, Hayashi YK.
A nationwide survey on marinesco-sjogren syndrome in Japan. Orphanet J Rare Dis.2014 Apr 23;9(1):58.
Merlini L, Nishino I ; Consortium for Autophagy in Muscular Dystrophies.
201st ENMC International Workshop: Autophagy in muscular dystrophies - Translational approach, 1-3 November 2013, Bussum, The Netherlands. Neuromuscul Disord.2014 Jun;24(6):546-561. Epub 2014 Mar 24.
Uezumi A, Fukada S, Yamamoto N, Ikemoto-Uezumi M, Nakatani M, Morita M, Yamaguchi A, Yamada H, Nishino I, Hamada Y, Tsuchida K.
Identification and characterization of PDGFRα(+) mesenchymal progenitors in human skeletal muscle. Cell Death Dis.2014 Apr 17;5:e1186.
Huizing M, Carrillo-Carrasco N, Malicdan MC, Noguchi S, Gahl WA, Mitrani-Rosenbaum S, Argov Z, Nishino I.
GNE myopathy: New name and new mutation nomenclature. Neuromuscul Disord.2014 May;24(5):387-389.
Sugiura T, Kawaguchi Y, Goto K, Hayashi YK, Gono T, Furuya T, Nishino I, Yamanaka H.
Association between a C8orf13-BLK Polymorphism and Polymyositis/Dermatomyositis in the Japanese Population: An Additive Effect with STAT4 on Disease Susceptibility. PLoS One.2014 Mar 14; 9(3):e90019.
Anada RP, Wong KT, Malicdan MC, Goh KJ, Hayashi YK, Nishino I, Noguchi S.
Absence of beta-amyloid deposition in the central nervous system of a transgenic mouse model of distal myopathy with rimmed vacuoles. Amyloid.Jun;21(2):138-139. Epub 2014 Mar 7.
Kajino S, Ishihara K, Goto K, Ishigaki K, Noguchi S, Nonaka I, Osawa M, Nishino I, Hayashi YK.
Congenital fiber type disproportion myopathy caused by LMNA mutations. J Neurol Sci. 2014 May 15;340(1-2):94-98. Epub 2014 Mar 5.
Mori-Yoshimura M, Oya Y, Yajima H, Yonemoto N, Kobayashi Y, Hayashi YK, Noguchi S, Nishino I, Murata M. GNE myopathy: A prospective natural history study of disease progression. Neuromuscul Disord.2014 May;24(5):380-386. Epub 2014 Feb 28.
Uruha A, Nishino I.
Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare. J Neurol Neurosurg Psychiatry.2014 Mar;85(3):248. Epub 2013 May 21.
Nakayama T, Nakamura H, Oya Y, Kimura T, Imahuku I, Ohno K, Nishino I, Abe K, Matsuura T.
Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2. J Hum Genet.2014 Mar; 59(3):129-133.
Murata KY, Sugie H, Nishino I, Kondo T, Ito H.
A primigravida with very-long chain acyl-CoA dehydrogenase deficiency.
Muscle Nerve. 2014 Feb;49(2):295-296. Epub 2013 Aug.
Goto M, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nishino I, Goto Y.
MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNALeu(UUR) gene. Brain Dev. 2014 Feb;36(2):180-182. Epub 2013 Apr 10.