Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

by Bicknell, Louise S., Bongers, Ernie M.H.F., Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E., Aftimos, Salim, Al-Aama, Jumana Y., Bober, Michael, Brown, Paul A. J., van Bokhoven, Hans, Dean, John, Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H., Kau, Nikolaus, Knoers, Nine V.A.M., MacKenzie, James, Opitz, John M., Sarda, Pierre, Ross, Alison, Temple, I. Karen, Toutain, Annick, Wise, Carol A., Wright, Michael, Jackson, Andrew P.
Published 2011

Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids

by Rademakers, Rosa, Baker, Matt, Nicholson, Alexandra M., Rutherford, Nicola J., Finch, NiCole, Soto-Ortolaza, Alexandra, Lash, Jennifer, Wider, Christian, Wojtas, Aleksandra, DeJesus-Hernandez, Mariely, Adamson, Jennifer, Kouri, Naomi, Sundal, Christina, Shuster, Elizabeth A., Aasly, Jan, MacKenzie, James, Roeber, Sigrun, Kretzschmar, Hans A., Boeve, Bradley F., Knopman, David S., Petersen, Ronald C., Cairns, Nigel J., Ghetti, Bernardino, Spina, Salvatore, Garbern, James, Tselis, Alexandros C., Uitti, Ryan, Das, Pritam, Van Gerpen, Jay A., Meschia, James F., Levy, Shawn, Broderick, Daniel F., Graff-Radford, Neill, Ross, Owen A., Miller, Bradley B., Swerdlow, Russell H., Dickson, Dennis W., Wszolek, Zbigniew K.
Published 2011