◆ 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 D. Altered 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 385:49–56., 2018