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收藏Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Wagner, Matias; Osborn, Daniel P. S.; Gehweiler, Ina; Nagel, Maike; Ulmer, Ulrike; Bakhtiari, Somayeh; Amouri, Rim; Boostani, Reza; Hentati, Faycal; Hockley, Maryam M.; Hoelbling, Benedikt; Schwarzmayr, Thomas; Karimiani, Ehsan Ghayoor; Kernstock, Christoph; Maroofian, Reza; Mueller-Felber, Wolfgang; Ozkan, Ege; Padilla-Lopez, Sergio; Reich, Selina; Reichbauer, Jennifer; Darvish, Hossein; Shahmohammadibeni, Neda; Tafakhori, Abbas; Vill, Katharina; Zuchner, Stephan; Kruer, Michael C.; Winkelmann, Juliane; Jamshidi, Yalda; Schuele, Rebecca 分享 收藏 Stroke in the Middle-East and North Africa: A 2-year prospective observational study of intravenous thrombolysis treatment in the region. Results from the SITS-MENA RegistryAl-Rukn, S.; Mazya, M.; Akhtar, N.; Hashim, H.; Mansouri, B.; Faouzi, B.; Aref, H.; Abdulrahman, H.; Kesraoui, S.; Hentati, F.; Gebelly, S.; Ahmed, N.; Wahlgren, N.; Abd-Allah, F.; Almekhlafi, M.; Moreira, T. 分享 收藏 Stroke in the Middle-East and North Africa: A 2-year prospective observational study of stroke characteristics in the region-Results from the Safe Implementation of Treatments in Stroke (SITS)-Middle-East and North African (MENA)中东和北非地区的卒中: 该地区卒中特征的2年前瞻性观察研究-卒中治疗安全实施 (SITS) 的结果-中东和北非 (MENA)Al Rukn, Suhail; Mazya, Michael, V; Hentati, Faycal; Ben Sassi, Samia; Nabli, Fatma; Said, Zakharia; Faouzi, Belahsen; Hashim, Husnain; Abd-Allah, Foad; Mansouri, Benhan; Kesraoui, Selma; Gebeily, Souheil; Abdulrahman, Husen; Akhtar, Naveed; Ahmed, Niaz; Wahlgren, Nils; Aref, Hany; Almekhlafi, Mohammed; Moreira, Tiago 分享 收藏 分享 收藏 Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and HumansWang, Yubin; Hersheson, Joshua; Lopez, Dulce; Hammer, Monia; Liu, Yan; Lee, Ka-Hung; Pinto, Vanessa; Seinfeld, Jeff; Wiethoff, Sarah; Sun, Jiandong; Amouri, Rim; Hentati, Faycal; Baudry, Neema; Tran, Jennifer; Singleton, Andrew B.; Coutelier, Marie; Brice, Alexis; Stevanin, Giovanni; Durr, Alexandra; Bi, Xiaoning; Houlden, Henry; Baudry, Michel 分享 收藏 分享 收藏 分享 收藏 分享 收藏 DNAJC13 mutations in Parkinson diseaseVilarino-Gueell, Carles; Rajput, Alex; Milnerwood, Austen J.; Shah, Brinda; Szu-Tu, Chelsea; Trinh, Joanne; Yu, Irene; Encarnacion, Mary; Munsie, Lise N.; Tapia, Lucia; Gustavsson, Emil K.; Chou, Patrick; Tatarnikov, Igor; Evans, Daniel M.; Pishotta, Frederick T.; Volta, Mattia; Beccano-Kelly, Dayne; Thompson, Christina; Lin, Michelle K.; Sherman, Holly E.; Han, Heather J.; Guenther, Bruce L.; Wasserman, Wyeth W.; Bernard, Virginie; Ross, Colin J.; Appel-Cresswell, Silke; Stoessl, A. Jon; Robinson, Christopher A.; Dickson, Dennis W.; Ross, Owen A.; Wszolek, Zbigniew K.; Aasly, Jan O.; Wu, Ruey-Meei; Hentati, Faycal; Gibson, Rachel A.; McPherson, Peter S.; Girard, Martine; Rajput, Michele; Rajput, Ali H.; Farrer, Matthew J. 分享 收藏 Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium帕金森病遗传流行病学 (geo-pd) 联盟中LRRK2易感性变异的人群特异性频率Heckman, Michael G.; Soto-Ortolaza, Alexandra I.; Aasly, Jan O.; Abahuni, Nadine; Annesi, Grazia; Bacon, Justin A.; Bardien, Soraya; Bozi, Maria; Brice, Alexis; Brighina, Laura; Carr, Jonathan; Chartier-Harlin, Marie-Christine; Dardiotis, Efthimios; Dickson, Dennis W.; Diehl, Nancy N.; Elbaz, Alexis; Ferrarese, Carlo; Fiske, Brian; Gibson, J. Mark; Gibson, Rachel; Hadjigeorgiou, Georgios M.; Hattori, Nobutaka; Ioannidis, John P. A.; Boczarska-Jedynak, Magdalena; Jasinska-Myga, Barbara; Jeon, Beom S.; Kim, Yun Joong; Klein, Christine; Kruger, Rejko; Kyratzi, Elli; Lesage, Suzanne; Lin, Chin-Hsien; Lynch, Timothy; Maraganore, Demetrius M.; Mellick, George D.; Mutez, Eugenie; Nilsson, Christer; Opala, Grzegorz; Park, Sung Sup; Petrucci, Simona; Puschmann, Andreas; Quattrone, Aldo; Sharma, Manu; Silburn, Peter A.; Sohn, Young Ho; Stefanis, Leonidas; Tadic, Vera; Theuns, Jessie; Tomiyama, Hiroyuki; Uitti, Ryan J.; Valente, Enza Maria; Van Broeckhoven, Christine; van de Loo, Simone; Vassilatis, Demetrios K.; Vilarino-Gueell, Carles; White, Linda R.; Wirdefeldt, Karin; Wszolek, Zbigniew K.; Wu, Ruey-Meei; Hentati, Faycal; Farrer, Matthew J.; Ross, Owen A. 分享 收藏 STX6 rs1411478 is not associated with increased risk of Parkinson's diseaseTrinh, Joanne; Vilarino-Gueell, Carles; Donald, Alan; Shah, Brinda; Yu, Irene; Szu-Tu, Chelsea; Aasly, Jan O.; Wu, Ruey-Meei; Hentati, Faycal; Rajput, Ali H.; Rajput, Alex; Farrer, Matthew J. 分享 收藏 Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with SpasticityHammer, Monia B.; Eleuch-Fayache, Ghada; Schottlaender, Lucia V.; Nehdi, Houda; Gibbs, J. Raphael; Arepalli, Sampath K.; Chong, Sean B.; Hernandez, Dena G.; Sailer, Anna; Liu, Guoxiang; Mistry, Pramod K.; Cai, Huaibin; Shrader, Ginamarie; Sassi, Celeste; Bouhlal, Yosr; Houlden, Henry; Hentati, Faycal; Amouri, Rim; Singleton, Andrew B. 分享 收藏 Cognitive dysfunction in Tunisian LRRK2 associated Parkinson's diseaseBen Sassi, Samia; Nabli, Fatma; Hentati, Emna; Nahdi, Houda; Trabelsi, Meriam; Ben Ayed, Hela; Amouri, Rim; Duda, John Eric; Farrer, Matthew John; Hentati, Faycal 分享 收藏 Translation Initiator EIF4G1 Mutations in Familial Parkinson DiseaseChartier-Harlin, Marie-Christine; Dachsel, Justus C.; Vilarino-Gueell, Carles; Lincoln, Sarah J.; Lepretre, Frederic; Hulihan, Mary M.; Kachergus, Jennifer; Milnerwood, Austen J.; Tapia, Lucia; Song, Mee-Sook; Le Rhun, Emilie; Mutez, Eugenie; Larvor, Lydie; Duflot, Aurelie; Vanbesien-Mailliot, Christel; Kreisler, Alexandre; Ross, Owen A.; Nishioka, Kenya; Soto-Ortolaza, Alexandra I.; Cobb, Stephanie A.; Melrose, Heather L.; Behrouz, Bahareh; Keeling, Brett H.; Bacon, Justin A.; Hentati, Emna; Williams, Lindsey; Yanagiya, Akiko; Sonenberg, Nahum; Lockhart, Paul J.; Zubair, Abba C.; Uitti, Ryan J.; Aasly, Jan O.; Krygowska-Wajs, Anna; Opala, Grzegorz; Wszolek, Zbigniew K.; Frigerio, Roberta; Maraganore, Demetrius M.; Gosal, David; Lynch, Tim; Hutchinson, Michael; Bentivoglio, Anna Rita; Valente, Enza Maria; Nicholso, William C.; Pankratz, Nathan; Foroud, Tatiana; Gibson, Rachel A.; Hentati, Faycal; Dickson, Dennis W.; Destee, Alain; Farrer, Matthew J. 分享 收藏 VPS35 Mutations in Parkinson Disease (vol 89, pg 162, 2011)Vilarino-Gueell, Carles; Wider, Christian; Ross, Owen A.; Dachsel, Justus C.; Kachergus, Jennifer M.; Lincoln, Sarah J.; Soto-Ortolaza, Alexandra I.; Cobb, Stephanie A.; Wilhoite, Greggory J.; Bacon, Justin A.; Behrouz, Bahareh; Melrose, Heather L.; Hentati, Emna; Puschmann, Andreas; Evans, Daniel M.; Conibear, Elizabeth; Wasserman, Wyeth W.; Aasly, Jan O.; Burkhard, Pierre R.; Djaldetti, Ruth; Ghika, Joseph; Hentati, Faycal; Krygowska-Wajs, Anna; Lynch, Tim; Melamed, Eldad; Rajput, Alex; Rajput, Ali H.; Solida, Alessandra; Wu, Ruey-Meei; Uitti, Ryan J.; Wszolek, Zbigniew K.; Vingerhoets, Francois; Farrer, Matthew J. 分享 收藏 VPS35 Mutations in Parkinson DiseaseVilarino-Gueell, Carles; Wider, Christian; Ross, Owen A.; Dachsel, Justus C.; Kachergus, Jennifer M.; Lincoln, Sarah J.; Soto-Ortolaza, Alexandra I.; Cobb, Stephanie A.; Wilhoite, Greggory J.; Bacon, Justin A.; Behrouz, Bahareh; Melrose, Heather L.; Hentati, Emna; Puschmann, Andreas; Evans, Daniel M.; Conibear, Elizabeth; Wasserman, Wyeth W.; Aasly, Jan O.; Burkhard, Pierre R.; Djaldetti, Ruth; Ghika, Joseph; Hentati, Faycal; Krygowska-Wajs, Anna; Lynch, Tim; Melamed, Eldad; Rajput, Alex; Rajput, Ali H.; Solida, Alessandra; Wu, Ruey-Meei; Uitti, Ryan J.; Wszolek, Zbigniew K.; Vingerhoets, Francois; Farrer, Matthew J. 分享 收藏 分享 收藏 A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2CHerson, Serge; Hentati, Faycal; Rigolet, Aude; Behin, Anthony; Romero, Norma B.; Leturcq, France; Laforet, Pascal; Maisonobe, Thierry; Amouri, Rim; Haddad, Hafedh; Audit, Muriel; Montus, Marie; Masurier, Carole; Gjata, Bernard; Georger, Christophe; Cherai, Mustapha; Carlier, Pierre; Hogrel, Jean-Yves; Herson, Ariane; Allenbach, Yves; Lemoine, Francois M.; Klatzmann, David; Sweeney, H. Lee; Mulligan, Richard C.; Eymard, Bruno; Caizergues, Didier; Voit, Thomas; Benveniste, Olivier 分享 收藏 分享 收藏 
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