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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

by Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Bamshad, Michael J., Leal, Suzanne M., Nickerson, Deborah A., Anderson, Peter, Annable, Marcus, Blue, Elizabeth Marchani, Buckingham, Kati J., Chin, Jennifer, Chong, Jessica X., Cornejo, Rodolfo, Davis, Colleen P., Frazar, Christopher, He, Zongxiao, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Kolar, Tom, Krauter, Stephanie A., Luksic, Daniel, Marvin, Colby T., McGee, Sean, McGoldrick, Daniel J., Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Robertson, Peggy D., Santos-Cortez, Regie, Shankar, Aditi, Slattery, Krystal, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Tackett, Monica, Wang, Gao, Wegener, Marc, Weiss, Jeffrey M., Wernick, Riana I., Wheeler, Marsha M., Yi, Qian, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, Hayflick, Susan J.
Published in American journal of human genetics (01.12.2016)

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The Parkinson Progression Marker Initiative (PPMI)

by Marek, Kenneth, Jennings, Danna, Lasch, Shirley, Siderowf, Andrew, Tanner, Caroline, Simuni, Tanya, Coffey, Chris, Kieburtz, Karl, Flagg, Emily, Chowdhury, Sohini, Poewe, Werner, Mollenhauer, Brit, Klinik, Paracelsus-Elena, Sherer, Todd, Frasier, Mark, Meunier, Claire, Rudolph, Alice, Casaceli, Cindy, Seibyl, John, Mendick, Susan, Schuff, Norbert, Zhang, Ying, Toga, Arthur, Crawford, Karen, Ansbach, Alison, De Blasio, Pasquale, Piovella, Michele, Trojanowski, John, Shaw, Les, Singleton, Andrew, Hawkins, Keith, Eberling, Jamie, Brooks, Deborah, Russell, David, Leary, Laura, Factor, Stewart, Sommerfeld, Barbara, Hogarth, Penelope, Pighetti, Emily, Williams, Karen, Standaert, David, Guthrie, Stephanie, Hauser, Robert, Delgado, Holly, Jankovic, Joseph, Hunter, Christine, Stern, Matthew, Tran, Baochan, Leverenz, Jim, Baca, Marne, Frank, Sam, Thomas, Cathi-Ann, Richard, Irene, Deeley, Cheryl, Rees, Linda, Sprenger, Fabienne, Lang, Elisabeth, Shill, Holly, Obradov, Sanja, Fernandez, Hubert, Winters, Adrienna, Berg, Daniela, Gauss, Katharina, Galasko, Douglas, Fontaine, Deborah, Mari, Zoltan, Gerstenhaber, Melissa, Brooks, David, Malloy, Sophie, Barone, Paolo, Longo, Katia, Comery, Tom, Ravina, Bernard, Grachev, Igor, Gallagher, Kim, Collins, Michelle, Widnell, Katherine L., Ostrowizki, Suzanne, Fontoura, Paulo, Ho, Tony, Luthman, Johan, Brug, Marcel van der, Reith, Alastair D., Taylor, Peggy
Published in Progress in neurobiology (01.12.2011)

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