Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018)

• Record Type: Journal Article
• Authors: Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U.; Alejandro, Mercedes E.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Bostwick, Bret L.; Burrage, Lindsay C.; Chen, Shan; Clark, Gary D.; Craigen, William J.; Dhar, Shweta U.; Emrick, Lisa T.; Goldman, Alica M.; Hanchard, Neil A.; Jamal, Fariha; Karaviti, Lefkothea; Lalani, Seema R.; Lee, Brendan H.; Lewis, Richard A.; Marom, Ronit; Moretti, Paolo M.; Murdock, David R.; Nicholas, Sarah K.; Orange, Jordan S.; Orengo, James P.; Posey, Jennifer E.; Potocki, Lorraine; Rosenfeld, Jill A.; Samson, Susan L.; Scott, Daryl A.; Tran, Alyssa A.; Vogel, Tiphanie P.; Bellen, Hugo J.; Wangler, Michael F.; Yamamoto, Shinya; Eng, Christine M.; Muzny, Donna M.; Ward, Patricia A.; Yang, Yaping; Goldstein, David B.; Stong, Nicholas; Cope, Heidi; Jiang, Yong-hui; McConkie-Rosell, Allyn; Pena, Loren DM.; Schoch, Kelly; Shashi, Vandana; Spillmann, Rebecca C.; Sullivan, Jennifer A.; Tan, Queenie K.G.; Walley, Nicole M.; Aaron, Aday; Beggs, Alan H.; Briere, Lauren C.; Cooper, Cynthia M.; Donnell-Fink, Laurel A.; High, Francis; Korrick, Susan; Krieg, Elizabeth L.; Krier, Joel B.; Lincoln, Sharyn A.; Loscalzo, Joseph; Maas, Richard L.; MacRae, Calum A.; Pallais, J. Carl; Rodan, Lance H.; Silverman, Edwin K.; Stoler, Joan M.; Sweetser, David A.; Walker, Melissa; Walsh, Chris A.; Esteves, Cecilia; Glanton, Emily; Holm, Ingrid A.; Kohane, Isaac S.; McCray, Alexa T.; Might, Matthew; LeBlanc, Kimberly; Bick, David P.; Birch, Camille L.; Boone, Braden E.; Brown, Donna M.; Dorset, Daniel C.; Handley, Lori H.; Jones, Angela L.; Lazar, Jozef; Levy, Shawn E.; May, Thomas; Newberry, J. Scott; Schroeder, Molly C.; Worthey, Elizabeth A.; Batzli, Gabriel F.; Dayal, Jyoti G.; Eckstein, David J.; Gould, Sarah E.; Howerton, Ellen M.; Krasnewich, Donna M.; Mamounas, Laura A.; Manolio, Teri A.; Mulvihill, John J.; Urv, Tiina K.; Wise, Anastasia L.; Brush, Matthew; Gourdine, Jean-Philippe F.; Haendel, Melissa; Koeller, David M.; Kyle, Jennifer E.; Metz, Thomas O.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Ashley, Euan A.; Bernstein, Jonathan A.; Bonner, Devon; Coakley, Terra R.; Davidson, Jean M.; Dries, Annika M.; Enns, Gregory M.; Fernandez, Liliana; Fisher, Paul G.; Friedman, Noah D.; Hom, Jason; Huang, Yong; Kohler, Jennefer N.; Majcherska, Marta M.; Marwaha, Shruti; McCormack, Colleen E.; Merker, Jason D.; Reuter, Chloe M.; Sampson, Jacinda B.; Smith, Kevin S.; Waggott, Daryl M.; Wheeler, Matthew T.; Zastrow, Diane B.; Zhao, Chunli; Allard, Patrick; Barseghyan, Hayk; Butte, Manish J.; Dell'Angelica, Esteban C.; Dipple, Katrina M.; Dorrani, Naghmeh; Douine, Emilie D.; Eskin, Ascia; Fogel, Brent L.; Herzog, Matthew R.; Lee, Hane; Loo, Sandra K.; Martin, Martin G.; Martínez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Behnam, Babak; Burke, Elizabeth A.; D'Souza, Precilla; Davids, Mariska; Draper, David D.; Estwick, Tyra; Ferreira, Carlos; Godfrey, Rena A.; Groden, Catherine A.; Johnston, Jean M.; Lau, C. Christopher; Macnamara, Ellen F.; Maduro, Valerie V.; Markello, Thomas C.; Morimoto, Marie; Murphy, Jennifer L.; Nehrebecky, Michele E.; Novacic, Donna; Pusey, Barbara N.; Sharma, Prashant; Toro, Camilo; Valivullah, Zaheer M.; Wahl, Colleen E.; Yu, Guoyun; Gropman, Andrea L.; Adams, David R.; Gahl, William A.; Malicdan, May Christine V.; Tifft, Cynthia J.; Wolfe, Lynne A.; Postlethwait, John H.; Westerfield, Monte; Bican, Anna; Hamid, Rizwan; Newman, John H.; Phillips, John A.; Robertson, Amy K.; Cogan, Joy D.;
• Is Part Of: Neurology. Volume 4:Number 4(2018)
• Publication Date: 2018-08
• Subjects: Neurogenetics -- Periodicals; 616.80442
• DOI: 10.1212/NXG.0000000000000248
• Languages: English
• ISSNs: 2376-7839