未登录.png)
分享.png)
收藏De novo variants in FRMDS are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
Lu, Shenzhao; Ma, Mengqi; Mao, Xiao; Bacino, Carlos A.; Jankovic, Joseph; Sutton, V. Reid; Bartley, James A.; Wang, Xueying; Rosenfeld, Jill A.; Beleza-Meireles, Ana; Chauhan, Jaynee; Pan, Xueyang; Li, Megan; Liu, Pengfei; Prescott, Katrina; Amin, Sam; Davies, George; Wangler, Michael F.; Dai, Yuwei; Bellen, Hugo J. 分享 收藏 分享 收藏 Integrated sequencing and array comparative genomic hybridization in familial Parkinson diseaseRobak, Laurie A.; Du, Renqian; Yuan, Bo; Gu, Shen; Alfradique-Dunham, Isabel; Kondapalli, Vismaya; Hinojosa, Evelyn; Stillwell, Amanda; Young, Emily; Zhang, Chaofan; Song, Xiaofei; Du, Haowei; Gambin, Tomasz; Jhangiani, Shalini N.; Akdemir, Zeynep Coban; Muzny, Donna M.; Tejomurtula, Anusha; Ross, Owen A.; Shaw, Chad; Jankovic, Joseph; Bi, Weimin; Posey, Jennifer E.; Lupski, James R.; Shulman, Joshua M. 分享 收藏 Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementiaGBA相关帕金森病和路易体痴呆发病风险和年龄的遗传修饰因子Blauwendraat, Cornelis; Reed, Xylena; Krohn, Lynne; Heilbron, Karl; Bandres-Ciga, Sara; Tan, Manuela; Gibbs, J. Raphael; Hernandez, Dena G.; Kumaran, Ravindran; Langston, Rebekah; Bonet-Ponce, Luis; Alcalay, Roy N.; Hassin-Baer, Sharon; Greenbaum, Lior; Iwaki, Hirotaka; Leonard, Hampton L.; Grenn, Francis P.; Ruskey, Jennifer A.; Sabir, Marya; Ahmed, Sarah; Makarious, Mary B.; Pihlstrom, Lasse; Toft, Mathias; van Hilten, Jacobus J.; Marinus, Johan; Schulte, Claudia; Brockmann, Kathrin; Sharma, Manu; Siitonen, Ari; Majamaa, Kari; Eerola-Rautio, Johanna; Tienari, Pentti J.; Pantelyat, Alexander; Hillis, Argye E.; Dawson, Ted M.; Rosenthal, Liana S.; Albert, Marilyn S.; Resnick, Susan M.; Ferrucci, Luigi; Morris, Christopher M.; Pletnikova, Olga; Troncoso, Juan; Grosset, Donald; Lesage, Suzanne; Corvol, Jean-Christophe; Brice, Alexis; Noyce, Alastair J.; Masliah, Eliezer; Wood, Nick; Hardy, John; Shulman, Lisa M.; Jankovic, Joseph; Shulman, Joshua M.; Heutink, Peter; Gasser, Thomas; Cannon, Paul; Scholz, Sonja W.; Morris, Huw; Cookson, Mark R.; Nalls, Mike A.; Gan-Or, Ziv; Singleton, Andrew B. 分享 收藏 McLeod syndrome: Five new pedigrees with novel mutationsWeaver, J.; Sarva, H.; Barone, D.; Bobker, S.; Bushara, K.; Hiller, A.; Ishii, M.; Jankovic, J.; Lakhani, S.; Niotis, K.; Scharre, D. W.; Tuite, P.; Stutz, A.; Westhoff, C. M.; Walker, R. H. 分享 收藏 Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanismsBlauwendraat, Cornelis; Heilbron, Karl; Vallerga, Costanza L.; Bandres-Ciga, Sara; von Coelln, Rainer; Pihlstrom, Lasse; Simon-Sanchez, Javier; Schulte, Claudia; Sharma, Manu; Krohn, Lynne; Siitonen, Ari; Iwaki, Hirotaka; Leonard, Hampton; Noyce, Alastair J.; Tan, Manuela; Gibbs, J. Raphael; Hernandez, Dena G.; Scholz, Sonja W.; Jankovic, Joseph; Shulman, Lisa M.; Lesage, Suzanne; Corvol, Jean-Christophe; Brice, Alexis; van Hilten, Jacobus J.; Marinus, Johan; Eerola-Rautio, Johanna; Tienari, Pentti; Majamaa, Kari; Toft, Mathias; Grosset, Donald G.; Gasser, Thomas; Heutink, Peter; Shulman, Joshua M.; Wood, Nicolas; Hardy, John; Morris, Huw R.; Hinds, David A.; Gratten, Jacob; Visscher, Peter M.; Gan-Or, Ziv; Nalls, Mike A.; Singleton, Andrew B. 分享 收藏 分享 收藏 Diffusion Imaging of Nigral Alterations in Early Parkinson's Disease With Dopaminergic Deficits早期帕金森病伴多巴胺能缺陷的黑质改变的扩散成像Schuff, Norbert; Wu, I-Wei; Buckley, Shannon; Foster, Eric D.; Coffey, Christopher S.; Gitelman, Darren R.; Mendick, Susan; Seibyl, John; Simuni, Tanya; Zhang, Yu; Jankovic, Joseph; Hunter, Christine; Tanner, Caroline M.; Rees, Linda; Factor, Stewart; Berg, Daniela; Wurster, Isabel; Gauss, Katharina; Sprenger, Fabienne; Seppi, Klaus; Poewe, Werner; Mollenhauer, Brit; Knake, Susanne; Mari, Zoltan; McCoy, Arita; Ranola, Madelaine; Marek, Kenneth 分享 收藏 Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder StudyMcGrath, Lauren M.; Yu, Dongmei; Marshall, Christian; Davis, Lea K.; Thiruvahindrapuram, Bhooma; Li, Bingbin; Cappi, Carolina; Gerber, Gloria; Wolf, Aaron; Schroeder, Frederick A.; Osiecki, Lisa; O'Dushlaine, Colm; Kirby, Andrew; Illmann, Cornelia; Haddad, Stephen; Gallagher, Patience; Fagerness, Jesen A.; Barr, Cathy L.; Bellodi, Laura; Benarroch, Fortu; Bienvenu, O. Joseph; Black, Donald W.; Bloch, Michael H.; Bruun, Ruth D.; Budman, Cathy L.; Camarena, Beatriz; Cath, Danielle C.; Cavallini, Maria C.; Chouinard, Sylvain; Coric, Vladimir; Cullen, Bernadette; Delorme, Richard; Denys, Damiaan; Derks, Eske M.; Dion, Yves; Rosario, Maria C.; Eapen, Valsama; Evans, Patrick; Falkai, Peter; Fernandez, Thomas V.; Garrido, Helena; Geller, Daniel; Grabe, Hans J.; Grados, Marco A.; Greenberg, Benjamin D.; Gross-Tsur, Varda; Gruenblatt, Edna; Heiman, Gary A.; Hemmings, Sian M. J.; Herrera, Luis D.; Hounie, Ana G.; Jankovic, Joseph; Kennedy, James L.; King, Robert A.; Kurlan, Roger; Lanzagorta, Nuria; Leboyer, Marion; Leckman, James F.; Lennertz, Leonhard; Lochner, Christine; Lowe, Thomas L.; Lyon, Gholson J.; Macciardi, Fabio; Maier, Wolfgang; McCracken, James T.; McMahon, William; Murphy, Dennis L.; Naarden, Allan L.; Neale, Benjamin M.; Nurmi, Erika; Pakstis, Andrew J.; Pato, Michele T.; Pato, Carlos N.; Piacentini, John; Pittenger, Christopher; Pollak, Yehuda; Reus, Victor I.; Richter, Margaret A.; Riddle, Mark; Robertson, Mary M.; Rosenberg, David; Rouleau, Guy A.; Ruhrmann, Stephan; Sampaio, Aline S.; Samuels, Jack; Sandor, Paul; Sheppard, Brooke; Singer, Harvey S.; Smit, Jan H.; Stein, Dan J.; Tischrield, Jay A.; Vallada, Homero; Veenstra-VanderWeele, Jeremy; Walitza, Susanne; Wang, Ying; Wendfand, Jens R.; Shugart, Yin Yao; Miguel, Euripedes C.; Nicolini, Humberto; Oostra, Ben A.; Moessner, Rainald; Wagner, Michael; Ruiz-Linares, Andres; Heutink, Peter; Nestadt, Gerald; Freimer, Nelson; Petryshen, Tracey; Posthuma, Danielle; Jenike, Michael A.; Cox, Nancy J.; Hanna, Gregory L.; Brentani, Helena; Scherer, Stephen W.; Arnold, Paul D.; Stewart, S. Evelyn; Mathews, Carol A.; Knowles, James A.; Cook, Edwin H.; Pauls, David L.; Wang, Kai; Scharf, Jeremiah M. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Multiple LRRK2 Variants Modulate Risk of Parkinson Disease: A Chinese Multicenter StudyTan, Eng-King; Peng, Rong; Teo, Yik-Ying; Tan, Louis C.; Angeles, Dario; Ho, Patrick; Chen, Meng-Ling; Lin, Chin-Hsien; Mao, Xue-Ye; Chang, Xue-Li; Prakash, Kumar M.; Liu, Jian-Jun; Au, Wing-Lok; Le, Wei-Dong; Jankovic, Joseph; Burgunder, Jean-Marc; Zhao, Yi; Wu, Ruey-Meei 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Age at onset in two common neurodegenerative diseases is genetically controlledLi, YJ; Scott, WK; Hedges, DJ; Zhang, FY; Gaskell, PC; Nance, MA; Watts, RL; Hubble, JP; Koller, WC; Pahwa, R; Stern, MB; Hiner, BC; Jankovic, J; Allen, AA; Goetz, CG; Mastaglia, F; Stajich, JM; Gibson, RA; Middleton, LT; Saunders, AM; Scott, BL; Small, GW; Nicodemus, KK; Reed, AD; Schmechel, DE; Welsh-Bohmer, KA; Conneally, PM; Roses, AD; Gilbert, JR; Vance, JM; Haines, JL; Pericak-Vance, MA 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
