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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

by Lesage, Suzanne, Deramecourt, Vincent, Jacoupy, Maxime, Hassoun, Sidi Mohamed, Pujol, Claire, Maurage, Claude-Alain, Sahbatou, Mourad, Liebau, Stefan, Bilgic, Basar, Emre, Murat, Erginel-Unaltuna, Nihan, Guven, Gamze, Tison, François, Tranchant, Christine, Corvol, Jean-Christophe, Krack, Paul, Hernandez, Dena G., Gibbs, J. Raphael, Hardy, John, Wood, Nicholas W., Durr, Alexandra, Deleuze, Jean-François, Tazir, Meriem, Destée, Alain, Lohmann, Ebba, Corti, Olga, Brice, Alexis, Lesage, Suzanne, Tison, François, Vidailhet, Marie, Corvol, Jean-Christophe, Agid, Yves, Anheim, Mathieu, Bonnet, Anne-Marie, Borg, Michel, Broussolle, Emmanuel, Durif, Franck, Krack, Paul, Klebe, Stephan, Lohmann, Ebba, Vérin, Marc, Viallet, François, Brice, Alexis, Majounie, Elisa, Corvol, Jean Christophe, Ben-Shlomo, Yoav, Berg, Daniela, Bhatia, Kailash, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M., Brockmann, Kathrin, Burn, David J., Chen, Honglei, Clarke, Carl E., Cookson, Mark R., Counsell, Carl, van Dijk, Karin D., Dong, Jing, Escott-Price, Valentina, Evans, Jonathan R., Gray, Emma, Guerreiro, Rita, van Hilten, Jacobus J., Hollenbeck, Albert, Holmans, Peter, Hu, Michèle, Hudson, Gavin, Hunt, Sarah E., Kilarski, Laura L., Jansen, Iris E., Langford, Cordelia, Lees, Andrew, Lorenz, Delia, Lubbe, Steven, Lungu, Codrin, Martinez, María, Mätzler, Walter, McNeill, Alisdair, Moorby, Catriona, O’Sullivan, Sean S., Pearson, Justin, Ravina, Bernard, Rivadeneira, Fernando, Ryten, Mina, Schapira, Anthony, Sharma, Manu, Sheerin, Una-Marie, Sidransky, Ellen, Spencer, Chris C.A., Stefánsson, Kári, Strange, Amy, Talbot, Kevin, Trabzuni, Daniah, Uitterlinden, André G., van de Warrenburg, Bart, Williams-Gray, Caroline H., Winder-Rhodes, Sophie, Hardy, John, Wood, Nicholas W.
Published in American journal of human genetics (03.03.2016)

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Genome sequence analyses identify novel risk loci for multiple system atrophy

by Chia, Ruth, Ray, Anindita, Shah, Zalak, Ding, Jinhui, Ruffo, Paola, Fujita, Masashi, Menon, Vilas, Reho, Paolo, Kaivola, Karri, Walton, Ronald L., Reynolds, Regina H., Karra, Ramita, Sait, Shaimaa, Akcimen, Fulya, Diez-Fairen, Monica, Alvarez, Ignacio, Fanciulli, Alessandra, Stefanova, Nadia, Seppi, Klaus, Duerr, Susanne, Leys, Fabian, Krismer, Florian, Sidoroff, Victoria, Zimprich, Alexander, Pirker, Walter, Rascol, Olivier, Foubert-Samier, Alexandra, Meissner, Wassilios G., Tison, François, Pavy-Le Traon, Anne, Pellecchia, Maria Teresa, Barone, Paolo, Russillo, Maria Claudia, Marín-Lahoz, Juan, Kulisevsky, Jaime, Torres, Soraya, Mir, Pablo, Periñán, Maria Teresa, Proukakis, Christos, Chelban, Viorica, Goh, Yee Y., Parkkinen, Laura, Hu, Michele T., Kobylecki, Christopher, Saxon, Jennifer A., Rollinson, Sara, Garland, Emily, Biaggioni, Italo, Litvan, Irene, Rubio, Ileana, Alcalay, Roy N., Kwei, Kimberly T., Mao, Qinwen, Flanagan, Margaret E., Castellani, Rudolph J., Khurana, Vikram, Ndayisaba, Alain, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Moore, Anni, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Kim, Changyoun, Iba, Michiyo, Masliah, Eliezer, Dawson, Ted M., Rosenthal, Liana S., Pantelyat, Alexander, Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Infante, Jon, Lage, Carmen, Sánchez-Juan, Pascual, Serrano, Geidy E., Beach, Thomas G., Pastor, Pau, Morris, Huw R., Albani, Diego, Clarimon, Jordi, Hardy, John A., Ryten, Mina, Topol, Eric, Torkamani, Ali, Chiò, Adriano, Bennett, David A., De Jager, Philip L., Low, Philip A., Singer, Wolfgang, Wszolek, Zbigniew K., Dickson, Dennis W., Gibbs, J. Raphael, Dalgard, Clifton L., Ross, Owen A., Houlden, Henry, Scholz, Sonja W.
Published in Neuron (Cambridge, Mass.) (03.07.2024)

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