著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI) Kawakami Nobuko and Komatsu Kenichi and Yamashita Hirofumi and Uemura Kengo and Oka Nobuyuki and Takashima Hiroshi and Takahashi Ryosuke,Brief Clinical Note : A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement,臨床神経学,0009918X,日本神経学会,2014,54,11,911-915,https://cir.nii.ac.jp/crid/1390001205037344768,https://doi.org/10.5692/clinicalneurol.54.911