研究業績 / Publications

 2020 

  • Ueta Y, Akiba Y, Yamazaki J, Okubo Y, Taguchi T, Terashi H, Hayashi YK, Aizawa H. Cerebral infarction and myalgia in a 75-year-old man with eosinophilic granulomatosis with polyangiitis. Intern Med. 59:3089–3092. DOI: 10.2169/internalmedicine.5099-20., 2020
  • Kawabata-Sakata Y, Nishiike Y, Fleming T, Kikuchi Y, Okubo K. Androgen-dependent sexual dimorphism in pituitary tryptophan hydroxylase expression: relevance to sex differences in pituitary hormones. Proc Biol Sci. 287:20200713. DOI: 10.1098/rspb.2020.0713., 2020
  • Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM. Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology. 94:e2441–e2447DOI:10.1212/WNL.0000000000009617., 2020
  • Ono H, Suzuki N, Kanno S, Kawahara G, Izumi R, Takahashi T, Kitajima Y, Osana S, Akiyama T, Ikeda K, Shijo T, Mitsuzawa S, Warita H, Nagatomi R, Araki N, Yasui A, Hayashi YK, Miyake K, Aoki M. Promoting plasma membrane repair via AMPK comple activation improves muscle phenotypes of dysferlinopathy. Molecular Therapy. 28:1133–1153. DOI: 10.1016/j.ymthe.2020.02.006., 2020
  • Kawahara G, Nakayashiki MS, Maeda H, Kikura-Hanajiri R, Yoshida K, Hayashi YK. Antagonists for serotonin receptors ameliorate rhabdomyolysis induced by 25D-NBOMe, a psychoactive designer drug. Forensic Toxicology 38:122–128. DOI: 10.1007/s11419-019-00495-w., 2020

 

 2019 

  • Wada E, Kato M, Yamashita K, Kokuba H, Liang WC, Bonne G, Hayashi YK. Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222Pmutant mice. Plos One 14(8):e0221512. DOI: 10.1371/journal.pone.0221512., 2019
  • Wada E, Hamano T, Matsui I, Yoshida M, Hayashi YK, Matsuda R. Renal involvement in the pathogenesis of mineral and bone disorder in dystrophin-deficient mdx mouse. J Physiol Sci 69(4):661–671. DOI: 10.1007/s12576-019-00683-8., 2019
  • Widrick JJ, Kawahara G, Alexander MS, Beggs AH, Kunkel LM. Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens. J Neuromuscul Dis 6(3):271–287. DOI: 10.3233/JND-190389., 2019
  • Mio M, Sugiki T, Matsuda C, Mitsuhashi H, Kojima C, Chan SY, Hayashi YK, Mio K. Structural instability of lamin A tail domain modulates its assembly and higher order function in Emery–Dreifuss muscular dystrophy. Biochem Biophys Res Commun 512(1):22–28. DOI: 10.1016/j.bbrc.2019.02.138., 2019

 

 2018 

  • Ishiguro K, Nakayama T, Yoshioka M, Murakami T, Kajino S, Shichiji M, Sato T, Hino-Fukuyo N, Kuru S, Osawa M, Nagata S, Okubo M, Murakami N, Hayashi YK, Nishino I, Ishigaki K. Characteristic findings of skeletal muscle MRI in caveolinopathies. Neuromuscul Disord 28(10):857–862., 2018
  • Serafini PR, Feyder MJ, Hightower RM, Garcia-Perez D, Vieira NM, Lek A, Gibbs DE, Moukha-Chafiq O, Augelli-Szafran CE, Kawahara G, Widrick JJ, Kunkel LM, Alexander MS.  A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. JCI Insight 3(18):e120493., 2018
  • Inoue M, Iida A, Hayashi S, Mori-Yoshimura M, Nagaoka A, Yoshimura S, Shiraishi H, Tsujino A, Takahashi Y, Nonaka I, Hayashi YK, Noguchi S, Nishino I. Two novelVCPmissense variants identified in Japanese patients with multisystem proteinopathy. Human Genome Variation 5:9. DOI: 10.1038/s41439-018-0009-7., 2018

  • Uruha A, Hayashi YK, Mori-Yoshimura M, Oya Y, Kanai M, Murata M, Nishino I. A 31-year-old man with slowly progressive limb muscle weakness and respiratory insufficiency. Brain Pathology 28:123–124., 2018
  • Mori-Yoshimura M, Mitsuhashi S, Nakamura H, Komaki H, Goto K, Yonemoto N, Takeuchi F, Hayashi YK, Murata M, Takahashi Y, Nishino I, Takeda S, Kimura E. Characteristics of Japanese patients with Becker muscular dystrophy and intermediate muscular dystrophy in a Japanese national registry of muscular dystrophy (Remudy): heterogeneity and clinical variation. J Neuromuscul Dis 5(2):193–203., 2018
  • CorteseA, Laura M, Casali C, Nishino I, Hayashi YK, Magri S, Taroni F, Stuani C, Saveri P, Moggio M, Ripolone M, Prelle A, Pisciotta C, Sagnelli A, Pichiecchio A, Reilly MM, Buratti E,Pareyson DAltered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. Eur J Neurol 25(1):154–163., 2018
  • Kashimada A, Hasegawa S, Isagai T, Uchiyama T, Matsuo M, Kawai M, Goto M, Morio T, Hayashi YK, Takagi M. Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome. J Neurol Sci 385:4956., 2018

 2017 

  • Kawahara G, Maeda H, Kikura-Hanajiri R, Yoshida K, Hayashi YK. The psychoactive drug 25B-NBOMe recapitulates rhabdomyolysis in zebrafish larvae. Forensic Toxicol 35(2): 369–375., 2017
  • Wada E, Tanihata J, Iwamura A, Takeda S, Hayashi YK, Matsuda R. Treatment with the anti-IL-6 receptor antibody attenuates muscular dystrophy via promoting skeletal muscle regeneration in dystrophin-/utrophin-deficient mice. Skelet Muscle 7(1):23., 2017
  • Nakamori M, Hamanaka K, Thomas JD, Wang ET, Hayashi YK, Takahashi MP, Swanson MS, Nishino I, Mochizuki H. Aberrant myokine signaling in congenital myotonic dystrophy. Cell Rep 21(5):1240–1252., 2017
  • Okubo M, Goto K, Komaki K, Nakamura H, Mori-Yoshimura M, Hayashi YK, Mitsuhashi S, Noguchi S, Kimura E, Nishino I. Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. Orphanet J Rare Dis 12(1):149., 2017
  • Ishiyama A, Sakai C, Matsushima Y, Noguchi S, Mitsuhashi S, Endo Y, Hayashi YK, Saito Y, Nakagawa E, Komaki H, Sugai K, Sasaki M, Sato N, Nonaka I, Goto Y, Nishino I. IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. Neurol Genet 3:e184., 2017
  • Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N. Biallelic mutations in MYPN, encoding myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy. Am J Hum Genet 100(1):169–178., 2017
  • Nakamura K, Hamaguchi T, Sakai K, Noto D, Ono K, Hayashi Y, Nishino I, Yamada M. Granuloma formation in a patient with GNE myopathy: a case report. Neuromuscul Disord 27(2):183184., 2017

 2016 

  • Uruha A, Noguchi N, Hayashi YK, Tsuburaya RS, Yonekawa T, Nonaka I, Nishino IHepatitis C virus infection in inclusion body myositis: A case-control study. Neurology 86(3):211217., 2016
  • Sugie K, Yoshizawa H, Onoue K, Nakanishi Y, Eura N, Ogawa M, Nakano T, Sakaguchi Y, Hayashi YK, Kishimoto T, Shima M, Saito Y, Nishino I, Ueno S. Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene. Neuropathology 36(6):561565., 2016
  • Nishikawa A, Mori-Yoshimura M, Segawa K, Hayashi YK, Takahashi T, Saito Y, Nonaka I, Krahn M, Levy N, Shimizu J, Kimura E, Goto J, Yonemoto N, Aoki M, Nishino I, Oya Y, Murata M. Respiratory and cardiac function in japanese patients with dysferlinopathy. Muscle Nerve 53(3):394401., 2016
  • Liang W-C, Choua P-C, Hung C-C, Su Y-N, Kan T-M, Chen W-Z, Hayashi YK, Nishiino I, Jong Y-J.Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. J Neurol Sci 362:304308., 2016
  • Kawahara G, Hayashi YK. Characterization of Zebrafish Models of Marinesco-Sjogren Syndrome. PLoS One 11:e0165563., 2016
  • Ikeda K, Mori-Yoshimura M, Yamamoto T, Sonoo M, Suzuki S, Kondo Y, Nakamura H, Mitsuhashi K, Maeda MH, Shimizu J, Hayashi YK, Nishino I, Oya Y, Murata M. Chronic Myopathy Associated With Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy. J Clin Neuromuscul Dis 17(4):197206., 2016
  • Hamanaka K, Inami I, Wada T, Mitsuhashi S, Noguchi S, Hayashi YK, Nishino I.Muscle from a 20-week-old myotubular myopathy fetus is not myotubular. Neuromuscul Disord 26(3):234235., 2016
  • Hamanaka K, Goto K, Arai M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Mitsuhashi S, Nishino I. Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations. Neuromuscul Disord 26(4-5):300308., 2016
  • Furuta M, Sumi-Akamaru H, Takahashi MP, Hayashi YK, Nishino I, Mochizuki H.An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles. Neuromuscul Disord 26:593597., 2016
  • Matsubara S, Shimizu T, Komori T, Mori M, Minami N, Nishino I, Hasyashi YK. Nuclear inclusions mimicking the poly(A )-binding protein nuclear 1 inclusion in a case of inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD). Neuromuscul Disord 26(7):436440., 2016
  • Dastgir J, Rutkowski A, Alvarez R, Cossette SA, Yan K, Hoffmann RG, Sewry C, Hayashi YK, Goebel HH, Bonnemann C, Lawlor MW. Common Data Elements for Muscle Biopsy 44 Reporting. Arch Pathol Lab Med 140(1):5165., 2016

その他 / Others

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