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Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism Hengel, Holger; Hannan, Shabab B.; Reich, Selina; Beijer, Danique; Roller, Johanna; Gilsbach, Bernd K.; Gloeckner, Christian Johannes; Greene, Daniel; Timmann, Dagmar; Depienne, Christel; Mumford, Andrew; O'Driscoll, Mary; Nemeth, Andrea H.; Lundberg, Julie; Rodan, Lance H.; Bruel, Ange-Line; Delanne, Julian; Deconinck, Tine; Baets, Jonathan; Gan-Or, Ziv; Rouleau, Guy; Suchowersky, Oksana; Estiar, Mehrdad A.; Reich, Stephen; Toro, Camilo; Zuechner, Stephan; Hazan, Jamile; Petursson, Hjoervar; Harmuth, Florian; Bauer, Claudia; Bauer, Peter; Turro, Ernest; Lambright, David; Schoels, Ludger; Synofzik, Matthis Share Save
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An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants Nmezi, Bruce; Bey, Guillermo Rodriguez; Oranburg, Talia DeFrancesco; Dudnyk, Kseniia; Lardo, Santana M.; Herdman, Nathan; Jacko, Anastasia; Rubio, Sandy; Loeza-Alcocer, Emanuel; Kofler, Julia; Kim, Dongkyeong; Rankin, Julia; Kivuva, Emma; Gutowski, Nicholas; Schon, Katherine; van den Ameele, Jelle; Chinnery, Patrick F.; Sousa, Sergio B.; Palavra, Filipe; Toro, Camilo; Pinto e Vairo, Filippo; Saute, Jonas; Pan, Lisa; Alturkustani, Murad; Hammond, Robert; Gros-Louis, Francois; Gold, Michael S.; Bernard, Genevieve; Raininko, Raili; Zhou, Jian; Hainer, Sarah J.; Padiath, Quasar S. Share Save
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Statin Use and Cardiovascular Risk in Young Adults in the United States Kothari, Om A.; Stone, John; Manivannan, Alan; Segarra-Concepcion, Alejandro; Ferri, Grace M.; Ganti, Rohan; Gurnani, Sarika D.; Gurijala, Nyshidha; Toro, Camilo; Bosch, Nicholas A.; Claudel, Sophie E. Share Save
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SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability Roychaudhury, Arkaprava; Lee, Yu-Ri; Choi, Tae-Ik; Thomas, Mervyn G.; Khan, Tahir N.; Yousaf, Hammad; Skinner, Cindy; Maconachie, Gail; Crosier, Moira; Horak, Holli; Constantinescu, Cris S.; Kim, Tae-Yoon; Lee, Kang-Han; Kyung, Jae-Jun; Wang, Tao; Ku, Bonsu; Chodirker, Bernard N.; Hammer, Michael F.; Gottlob, Irene; Norton, William H. J.; Gerlai, Robert; Kim, Hyung-Goo; Graziano, Claudio; Pippucci, Tommaso; Iovino, Emanuela; Montanari, Francesca; Severi, Giulia; Toro, Camilo; Boerkoel, Cornelius F.; Cha, Hyo Sun; Choi, Cheol Yong; Kim, Sungjin; Yoon, Je-Hyun; Gilmore, Kelly; Vora, Neeta L.; Davis, Erica E.; Chudley, Albert E.; Schwartz, Charles E.; Kim, Cheol-Hee Share Save
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses Kissell, Julie; Rochmann, Camille; Minini, Pascal; Eichler, Florian; Stephen, Christopher D.; Lau, Heather; Toro, Camilo; Johnston, Jean M.; Krupnick, Robert; Hamed, Alaa; Cox, Gerald F. Share Save
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome Snyder, Allison; Ryan, Veronica H.; Hawrot, James; Lawton, Sydney; Ramos, Daniel M.; Qi, Y. Andy; Johnson, Kory R.; Reed, Xylena; Johnson, Nicholas L.; Kollasch, Aaron W.; Duffy, Megan F.; VandeVrede, Lawren; Cochran, J. Nicholas; Miller, Bruce L.; Toro, Camilo; Bielekova, Bibiana; Marks, Debora S.; Yokoyama, Jennifer S.; Kwan, Justin Y.; Cookson, Mark R.; Ward, Michael E. Share Save
Adeno-associated viral gene therapy for sialidosis using small and large animal models Gallagher, Jillian; Gallant, Judith; Xu, Ping; Gately, Rachael; Prestigiacomo, Rachel; McElroy, Abigail; Hall, Erin; Benatti, Hector; Fremuth, Leigh V.; van de Vlekkert, Diantha; Toro, Camilo; Tifft, Cynthia J.; Wolfe, Scott; d'Azzo, Alessandra; Sena-Esteves, Miguel; Gray-Edwards, Heather Share Save
Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5 Franchino, Camilla Aurora; Brughera, Martina; Baderna, Valentina; De Ritis, Daniele; Rocco, Alessandra; Seneca, Sara; Regal, Luc; Podini, Paola; D'Antonio, Maurizio; Toro, Camilo; Quattrini, Angelo; Scalais, Emmanuel; Maltecca, Francesca Share Save
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature Morimoto, Marie; Nicoli, Elena-Raluca; Kuptanon, Chulaluck; Roney, Joseph C.; Serra-Vinardell, Jenny; Sharma, Prashant; Adams, David R.; Gallin, John, I; Holland, Steven M.; Rosenzweig, Sergio D.; Barbot, Jose; Ciccone, Carla; Huizing, Marjan; Toro, Camilo; Gahl, William A.; Introne, Wendy J.; Malicdan, May Christine, V Share Save
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Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion Trivellin, Giampaolo; Daly, Adrian F.; Hernandez-Ramirez, Laura C.; Araldi, Elisa; Tatsi, Christina; Dale, Ryan K.; Fridell, Gus; Mittal, Arjun; Faucz, Fabio R.; Iben, James R.; Li, Tianwei; Vitali, Eleonora; Stojilkovic, Stanko S.; Kamenicky, Peter; Villa, Chiara; Baussart, Bertrand; Chittiboina, Prashant; Toro, Camilo; Gahl, William A.; Eugster, Erica A.; Naves, Luciana A.; Jaffrain-Rea, Marie-Lise; de Herder, Wouter W.; Neggers, Sebastian J. C. M. M.; Petrossians, Patrick; Beckers, Albert; Lania, Andrea G.; Mains, Richard E.; Eipper, Betty A.; Stratakis, Constantine A. Share Save
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