Now showing items 1-2 of 2

    • A 44-year-old man with eye, kidney, and brain dysfunction 

      Vodopivec, Ivana; Oakley, Derek Hayden; Perugino, Cory Adam; Venna, Nagagopal; Hedley-Whyte, E. Tessa; Stone, John H (Wiley-Blackwell, 2016)
      Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, autosomal dominant condition caused by mutations of the three-prime repair exonuclease-1 (TREX1). The phenotypic expressions range from isolated retinal ...
    • Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1 

      Kiskinis, Evangelos; Sandoe, Jackson L; Williams, Lauren N.; Boulting, Gabriella Lutz; Moccia, Robert; Wainger, Brian Jason; Han, Steve Sang-woo; Peng, Theodore; Thams, Sebastian; Mikkilineni, Shravani; Mellin, Cassidy; Merkle, Florian Tobias; Davis-Dusenbery, B; Ziller, Michael Johannes; Oakley, Derek Hayden; Ichida, Justin; Di Costanzo, Stefania; Atwater, Nick; Maeder, M; Goodwin, Marcus; Nemesh, James; Handsaker, Robert E; Paull, Daniel; Noggle, Scott; McCarroll, Steven A.; Joung, Jae Keith; Woolf, Carl; Brown, Robert H; Eggan, Kevin Carl (Elsevier BV, 2014)
      Direct electrical recording and stimulation of neural activity using micro-fabricated silicon and metal micro-wire probes have contributed extensively to basic neuroscience and therapeutic applications; however, the ...