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)
Matthis Synofzik and Michael A. Gonzalez and Charles Marques Lourenco and Marie Coutelier and Tobias B. Haack and Adriana Rebelo and Didier Hannequin and Tim M. Strom and Holger Prokisch and Christoph Kernstock and Alexandra Durr and Ludger Schöls and Marcos M. Lima-Martínez and Amjad Farooq and Rebecca Schüle and Giovanni Stevanin and Wilson Marques and Stephan Züchner,PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum,Brain,0006-8950,Oxford University Press (OUP),2013-12-18,137,1,69-77,https://cir.nii.ac.jp/crid/1364233269965338496,https://doi.org/10.1093/brain/awt326