Uruha A, Noguchi S, Hayashi YK, Tsuburaya RS , Yonekawa T, Nonaka I, Nishino I.
Hepatitis C virus infection in inclusion body myositis: A case-control study. Neurology.2016 Jan 19;86(3):211-217. Epub 2015 Dec 18. (当該号の"Editorial"で取り上げられました)
Matsuda C, Kiyosue K, Nishino I, Goto Y, Hayashi YK.
Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair. PLoS Curr. 2015 Oct 29;7.
Kawase K, Nishino I, Sugimoto M, Togawa T, Sugiura T, Kouwaki M, Kibe T, Koyama N, Yokochi K.
Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state. Brain Dev. 2015 Oct;37(9):887-890. Epub 2015 Feb 24.
Zhao Y, Ogawa H, Yonekura SI, Mitsuhashi H, Mitsuhashi S, Nishino I, Toyoshima C, Ishiura S.
Functional analysis of SERCA1b, a highly expressed SERCA1 variant in myotonic dystrophy type 1 muscle. Biochim Biophys Acta.2015 Oct;1852(10 Pt A):2042-2047. Epub 2015 Jul 1
Liang WC, Zhu W, Mitsuhashi S, Noguchi S, Sacher M, Ogawa M, Shih HH, Jong YJ, Nishino I.
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. Skelet Muscle. 2015 Aug 28;5:29.eCollection 2015.
Tanboon J, Viravan S, Hayashi YK, Nishino I, Sangruchi T.
2 Month-Old Male with Hypotonia. Brain Pathol. 2015 Sep;25(5):651-652.
Hatakeyama H, Katayama A, Komaki H, Nishino I, Goto Y.
Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp). Acta Neuropathol Commun. 2015 Aug 22;3(1):52.
Montassir H, Maegaki Y, Murayama K, Yamazaki T, Kohda M, Ohtake A, Iwasa H, Yatsuka Y, Okazaki Y, Sugiura C, Nagata I, Toyoshima M, Saito Y, Itoh M, Nishino I, Ohno K. Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report. Brain Dev. 2015 Aug;37(7):719-724. Epub 2015 Mar 27.
Uruha A, Noguchi S, Sato W, Nishimura H, Mitsuhashi S, Yamamura T, Nishino I.
Plasma IP-10 level distinguishes inflammatory myopathy. Neurology.2015 Jul 21;85(3):293-294. Epub 2015 Jul 1.
Kida H, Sano K, Yorita A, Miura S, Ayabe M, Hayashi YK, Nishino I, Taniwaki T.
First Japanese case of muscular dystrophy caused by a mutation in the anoctamin 5 gene. Neurology and Clinical Neuroscience.2015 Jul;3(4): 150-152, Epub 2015 Mar
Toyooka K, Kubo K, Fujimura H, Sakoda S, Tominaga K, Nishino I
Family with centronuclear myopathy as a result of a novel p.R369G DNM2 mutation. Neurology and Clinical Neuroscience.2015 Jul;3(4): 161-162, Epub 2015 Mar
Kawasaki Y, Naba I, Azuma S, Yaka K, Moriya M, Nakano M, Nishino I, Tatsumi C.
Case of dynamin 2 mutation-related sporadic centronuclear myopathy with peripheral neuropathy. Neurology and Clinical Neuroscience.2015 Jul;3(4);131-133, Epub 2015 Mar
Furuta A, Kikuchi H, Fujita H, Yamada D, Fujiwara cY, Kabuta T, Nishino I, Wada K, Uchiyama Y.
Property of lysosomal storage disease associated with midbrain pathology in the central nervous system of lamp-2-deficient mice. Am J Pathol. 2015 Jun;185(6):1713-1723.
Suzuki S, Nishikawa A, Kuwana M, Nishimura H, Watanabe Y, Nakahara J, Hayashi YK, Suzuki N, Nishino I.
Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients. Orphanet J Rare Dis. 2015 May 13;10(1):61.
Munteanu I, Ramachandran N, Ruggieri A, Awaya T, Nishino I, Minassian BA.
Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy. Neurology. 2015 Apr 21;84(16):1714-1716 Epub 2015 Mar 27.
Puppo F, Dionnet E, Gaillard MC, Gaildrat P, Castro C, Vovan C, Karine B, Bernard R, Attarian S, Goto K, Nishino I, Hayashi YK, Magdinier F, Krahn M, Helmbacher F, Bartoli M, Lévy N.
Identification of variants in the 4q35 gene FAT1 in patients with a Facioscapulohumeral dystrophy (FSHD)-like phenotype. Hum Mutat. 2015 Apr;36(4):443-453. Epub 2015 Mar 19.
Uruha A, Hayashi YK, Oya Y, Mori -Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira JI, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I.
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry.2015 Apr;86(5): 483-489. Epub 2014 Sep 24.
Nishino I, Carrillo-Carrasco N, Argov Z. GNE myopathy: current update and future therapy. J Neurol Neurosurg Psychiatry.2015 Apr;86(4):385-392. Epub 2014 Jul 7. Review.
Sanmaneechai O, Likasitwattanakul S, Sangruchi T, Nishino I. Ophthalmoplegi a in congenital neuromuscular disease with uniform type 1 fiber. Brain Dev. 2015 Apr;37(4):459-462. Epub 2014 Aug 8.
Watanabe Y, Suzuki S, Nishimura H, Murata KY, Kurashige T, Ikawa M, Asahi M, Konishi H, Mitsuma S, Kawabata S, Suzuki N, Nishino I. Statins and myotoxic effects associated with anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase autoantibodies: an observational study in Japan. Medicine (Baltimore).2015 Jan;94(4):e416.
Yonekawa T , Nishino I. Ullrich congen ital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s). J Neurol Neurosurg Psychiatry.2015 Mar;86(3):280-287. Epub 2014 Jun 17.
Endo Y, Furuta A, Nishino I. . Danon disease: a phenotypic expression of LAMP-2 deficiency. Acta Neuropathol. 2015 Mar;129(3):391-398. Epub 2015 Jan 15.
Ohsawa N, Koebis M, Mitsuhashi H, Nishino I, Ishiura S. ABLIM1 splicin g is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1. Genes Cells. 2015 Feb;20(2):121-134. Epub 2014 Nov 18.
Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Miyatake S, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto YI, Matsumoto N, Nonaka I, Nishino I.
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels. Hum Mol Genet.2015 Feb 1;24(3):637-648. Epub 2014 Sep 16.
Tanboon J, Hayashi YK, Nishino I, Sangruchi T.
Kyphoscoliosis and easy fatigability in a 14-year-old boy. Neuropathology. 2015 Feb;35(1):91-93. Epub 2014 Aug 28.
Kawase K, Nishino I, Sugimoto M, Kouwaki M, Koyama N, Yokochi K. Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event. Brain Dev. 2015 Feb;37(2):265-269. Epub 2014 Apr 29.
Dong M, Noguchi S, Endo Y, Hayashi YK, Yoshida S, Nonaka I, Nishino I.
DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan. Neurology. 2015 Jan 20;84(3):273-279. Epub 2014 Dec 12.