학술논문
Hexanucleotide repeat expansions in C9ORF72in the spectrum of motor neuron diseases
Document Type
Article
Author
van Rheenen, Wouter; van Blitterswijk, Marka; Huisman, Mark H.B.; Vlam, Lotte; Doormaal, Perry T.C. van; Seelen, Meinie; Medic, Jelena; Dooijes, Dennis; de Visser, Marianne; Kooi, Anneke J. van der; Raaphorst, Joost; Schelhaas, Helenius J.; Pol, W. Ludo van der; Veldink, Jan H.; Berg, Leonard H. van den; Weiner, Michael; Aisen, Paul; Petersen, Ronald; Clifford, R. Jack; Jagust, William; Trojanowki, John Q.; Toga, Arthur W.; Beckett, Laurel; Green, Robert C.; Saykin, Andrew J.; Morris, John; Liu, Enchi; Montine, Tom; Gamst, Anthony; Thomas, Ronald G.; Donohue, Michael; Walter, Sarah; Gessert, Devon; Sather, Tamie; Beckett, Laurel; Harvey, Danielle; Gamst, Anthony; Donohue, Michael; Kornak, John; Dale, Anders; Bernstein, Matthew; Felmlee, Joel; Fox, Nick; Thompson, Paul; Schuff, Norbert; Alexander, Gene; DeCarli, Charles; Bandy, Dan; Koeppe, Robert A.; Foster, Norm; Reiman, Eric M.; Chen, Kewei; Mathis, Chet; Cairns, Nigel J.; Taylor-Reinwald, Lisa; Shaw, Les; Lee, Virginia M.Y.; Korecka, Magdalena; Crawford, Karen; Neu, Scott; Foroud, Tatiana M.; Potkin, Steven; Shen, Li; Kachaturian, Zaven; Frank, Richard; Snyder, Peter J.; Kaye, Jeffrey; Dolen, Sara; Quinn, Joseph; Schneider, Lon S.; Pawluczyk, Sonia; Spann, Bryan M.; Brewer, James; Vanderswag, Helen; Heidebrink, Judith L.; Lord, Joanne L.; Petersen, Ronald; Johnson, Kris; S. Doody, Rachelle; Villanueva-Meyer, Javier; Chowdhury, Munir; Stern, Yaakov; Honig, Lawrence S.; Bell, Karen L.; Morris, John C.; Mintun, Mark A.; Schneider, Stacy; Marson, Daniel; Griffith, Randall; Clark, David; Grossman, Hillel; Mitsis, Effie; Romirowsky, Aliza; deToledo-Morrell, Leyla; Shah, Raj C.; Duara, Ranjan; Varon, Daniel; Roberts, Peggy; Albert, Marilyn; Onyike, Chiadi; Kielb, Stephanie; Rusinek, Henry; Leon, Mony J de; Glodzik, Lidia; Doraiswamy, P. Murali; Petrella, Jeffrey R.; Arnold, Steven E.; Karlawish, Jason H.; Wolk, David; Smith, Charles D.; Jicha, Greg; Hardy, Peter; Lopez, Oscar L.; Oakley, MaryAnn; Simpson, Donna M.; Ismail, M. Saleem; Brand, Connie; Mulnard, Ruth A.; Thai, Gaby; Mc-Adams-Ortiz, Catherine; Diaz-Arrastia, Ramon; Martin-Cook, Kristen; DeVous, Michael; Levey, Allan I.; Lah, James J.; Cellar, Janet S.; Burns, Jeffrey M.; Anderson, Heather S.; Swerdlow, Russell H.; Bartzokis, George; Silverman, Daniel H.S.; Lu, Po H.; Apostolova, Liana; Graff-Radford, Neill R; Parfitt, Francine; Johnson, Heather; Farlow, Martin; Herring, Scott; Hake, Ann M.; Dyck, Christopher H. van; Carson, Richard E.; MacAvoy, Martha G.; Chertkow, Howard; Bergman, Howard; Hosein, Chris; Black, Sandra; Stefanovic, Bojana; Caldwell, Curtis; Hsiung, Ging-Yuek Robin; Feldman, Howard; Assaly, Michele; Kertesz, Andrew; Rogers, John; Trost, Dick; Bernick, Charles; Munic, Donna; Wu, Chuang-Kuo; Johnson, Nancy; Mesulam, Marsel; Sadowsky, Carl; Martinez, Walter; Villena, Teresa; Turner, Raymond Scott; Johnson, Kathleen; Reynolds, Brigid; Sperling, Reisa A.; Frey, Meghan; Johnson, Keith A.; Rosen, Allyson; Tinklenberg, Jared; Sabbagh, Marwan; Belden, Christine; Jacobson, Sandra; Killiany, Ronald; Norbash, Alexander; Obisesan, Thomas O.; Wolday, Saba; Bwayo, Salome K.; Lerner, Alan; Hudson, Leon; Ogrocki, Paula; DeCarli, Charles; Fletcher, Evan; Carmichael, Owen; Kittur, Smita; Borrie, Michael; Lee, T-Y; Bartha, Rob; Johnson, Sterling; Asthana, Sanjay; Carlsson, Cynthia M.; Potkin, Steven G.; Preda, Adrian; Nguyen, Dana; Tariot, Pierre; Fleisher, Adam; Reeder, Stephanie; Bates, Vernice; Capote, Horacio; Rainka, Michelle; Hendin, Barry A.; Scharre, Douglas W.; Kataki, Maria; Zimmerman, Earl A.; Celmins, Dzintra; Brown, Alice D.; Pearlson, Godfrey D.; Blank, Karen; Anderson, Karen; Saykin, Andrew J.; Santulli, Robert B.; Schwartz, Eben S.; Williamson, Jeff D.; Sink, Kaycee M.; Watkins, Franklin; Ott, Brian R.; Querfurth, Henry; Tremont, Geoffrey; Salloway, Stephen; Malloy, Paul; Correia, Stephen; Rosen, Howard J.; Miller, Bruce L.; Mintzer, Jacobo; Longmire, Crystal Flynn; Spicer, Kenneth; Kwon, Sun-Uck; Kim, Joon-Tae; Cho, Ki-Hyun; Shin, Dong-Ick; Ko, Yungchai; Lee, Soo Joo; Cha, Jae-Kwan; Kim, Yong-Jae; Shin, Dong-Jin; Jang, Hyuk; Choi, Nack-Cheon; Hong, Seok-Chang; Rha, Joung-Ho; Hong, Keun-Sik; Kim, Eung-Gyu; Choi, Jay Chol; Sohn, Sung-Il; Shin, Won Chul; HyukHeo, Sung; Chung, Kyung Cheon; Park, Jong-Ho; Lee, Jun Hong; Park, Jong-Moo; Park, Tai Hwan; Bae, Hee-Joon; Han, Moon-Ku; Kwon, Hyung-Min; Lee, Kyung Bok; Lee, Tae-Kyeong; Jeong, Dushin; Lee, Jun; Ashwal, Steve; deVeber, Gabrielle; Ferriero, Donna; Fullerton, Heather; Ichord, Rebecca; Kirkham, Fenella; Lynch, John K.; O'Callaghan, Finbar; Pavlakis, Steve; Sebire, Guillaume; Willan, Andrew; Willan, Andrew; Sofronas, Marianne; Dlamini, Noma; Elbers, Jorina; Nowak-Göttl, Ulrike; Düring, Christine; Krümpel, Anne; Plumb, Patricia; Journeycake, Janna; van de Bruinhorst, Katrina; Gossett, Daniel; Chavez, Marta Isabel Hernandez; Monagle, Paul; MacKay, Mark; Barnes, Chris; Furmedge, Janine; Gordon, Anne; Benedict, Susan L.; Bale, James F.; Nielson, Denise; Abdalla, Abdalla; Chadehumbe, Madeline; Kabbouche, Marielle; Karti, Pooja; Phillips, Tonya; Friedman, Neil; Rizkallah, Elie; Zamel, Khaled; Wiznitzer, Max; Lidsky, Karen; Bernard, Timothy; Goldenberg, Neil A.; Armstrong-Wells, Jennifer; Booth, Frances; Nash, Monica; Beslow, Lauren; Carpenter, Jessica; Chang, Taeun; Weinstein, Steven; Kan, Li; Smith, Robin; Maytal, Joseph; Sy-Kho, Rosemarie; Yager, Jerome Y.; Massicotte, Patti; Ashwal, Steve; McClure, Chalmer; Bjornson, Bruce; Hukin, Juliet; Bucevska, Marija; Kent, Sheila; Riviello, James; Rivkin, Michael; Trenor, Cameron; Amlie-Lefond, Catherine; Whelan, Harry T.; Ferriero, Donna; Fullerton, Heather; Fox, Christine; Pavlakis, Steve; Goodman, Sharon; Levinson, Kim; Kolk, Anneli; Laugesaar, Rael; Talvik, Tiina; Imam, Hussain; Thomas, Terrence; Golomb, Meredith; Kirton, Adam; Heyer, Geoffrey; Ganesan, Vijeya; Saengpattrachai, Montri; Crosswell, Hal; Mancuso, Ann; Tatishvili, Nana; Yeh, Ann; Humpherys, Peter; Abraham, Lisa; Alveal, Lucila Andrade; Ortiz, Manuel Arriaza; Altuna, Diana; Maxit, Clarisa; Gonzalez, Veronica; Alam, Muhammad; Buckley, David; Penney, Sharon; Jordan, Lori; Grabowski, Eric; Chan, Anthony; Deray, Marcel; Khatib, Zaid; Kovacevic, Gordana; Kosofsky, Barry; Leifer, Dana; Nass, Ruth; Wong, Virginia; Catsman, Coriene; El-Hakam, Lisa; Sebire, Guillaume; Cholette, Jill M.; Narang, Shalu; Lerner, Norma B.; Carpenter, Shannon; Bischoff, Kurt; Frei-Jones, Melissa; Masur, David; Epstein, Leon G; Bagiella, Emilia; Hinton, Veronica J.; Gallentine, William; Rende, Elizabeth; Provenzale, James; Voyvodic, James; Song, Allen; Conklin, Terrie; O'Hara, Kathryn; Seinfeld, Syndi; Conry, Joan; Glauser, Tracy; Ayala, Jennifer; Facchini, Ronda; Sigalova, Maryana; Hannigan, James; Weiss, Erica; Mancini, Ann; Curran, John; Ahlm, Sarah; Renaldi, Julie; Umanzour, Diana K; Kim, Andrew; Hamidullah, Aaliyah; Litherland, Claire; Bonner, Melanie; Xu, Yuan; Van de Water, Virginia; Grasso, Susan; Kushner, David; Culbert, James; Bush, Brian J; Chandrasekaran, Sreedevi; Davis, Lori L; Rogers, Christiane; Sabo, Cynthia Shier; Wang, Helen; Noebels, Jeffrey L
Source
Neurology (Ovid); August 2012, Vol. 79 Issue: 9 p878-882, 5p
Subject
Language
ISSN
00283878; 1526632X
Abstract
To assess the frequency and phenotype of hexanucleotide repeat expansions in C9ORF72in a large cohort of patients of Dutch descent with familial (fALS) and sporadic (sALS) amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), and primary lateral sclerosis (PLS).