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  • Case Report/Case Series April 01, 2014

    Kishore R. Kumar, MBBS, FRACP; Katja Lohmann, PhD; Ikuo Masuho, PhD; Ryosuke Miyamoto, MD; Andreas Ferbert, MD; Thora Lohnau, BS; Meike Kasten, MD; Johann Hagenah, MD; Norbert Brüggemann, MD; Julia Graf, MD; Alexander Münchau, MD; Vladimir S. Kostic, MD, PhD; Carolyn M. Sue, MBBS, FRACP, PhD; Aloysius R. Domingo, MD; Raymond L. Rosales, MD, PhD; Lilian V. Lee, MD; Karen Freimann, MS; Ana Westenberger, PhD; Youhei Mukai, MD; Toshitaka Kawarai, MD; Ryuji Kaji, MD; Christine Klein, MD; Kirill A. Martemyanov, PhD; Alexander Schmidt, MD
    TOPICS: mutation, dystonia

    JAMA Neurol. 2014; 71(4):490-494. doi: 10.1001/jamaneurol.2013.4677

    Includes: Multimedia, Supplemental Content
  • Preliminary Communication April 20, 2011

    Daniel C. Link, MD; Laura G. Schuettpelz, MD, PhD; Dong Shen, MD, PhD; Jinling Wang, MD; Matthew J. Walter, MD; Shashikant Kulkarni, PhD; Jacqueline E. Payton, MD, PhD; Jennifer Ivanovich, MS; Paul J. Goodfellow, PhD; Michelle Le Beau, PhD; Daniel C. Koboldt, MS; David J. Dooling, PhD; Robert S. Fulton, MS; R. Hugh F. Bender, MS; Lucinda L. Fulton, MS; Kimberly D. Delehaunty, BA; Catrina C. Fronick, BS; Elizabeth L. Appelbaum, BA; Heather Schmidt, BS; Rachel Abbott, BS; Michelle O’Laughlin, BS; Ken Chen, PhD; Michael D. McLellan, BS; Nobish Varghese, MS; Rakesh Nagarajan, MD, PhD; Sharon Heath, CCRP; Timothy A. Graubert, MD; Li Ding, PhD; Timothy J. Ley, MD; Gerard P. Zambetti, PhD; Richard K. Wilson, PhD; Elaine R. Mardis, PhD
    TOPICS: mutation, cancer, dna, tp53 gene, genome, protein p53, bone marrow

    JAMA. 2011; 305(15):1568-1576. doi: 10.1001/jama.2011.473

    Includes: Supplemental Content