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

Authors: Lesage, Suzanne, Tison, François, Vidailhet, Marie, Corvol, Jean-Christophe, Agid, Yves, Anheim, Mathieu, Bonnet, Anne-Marie, Borg, Michel, Broussolle, Emmanuel, Damier, Philippe, Destée, Alain, Dürr, Alexandra, Durif, Franck, Krack, Paul, Klebe, Stephan, Lohmann, Ebba, Martinez, Maria, Pollak, Pierre, Rascol, Olivier, Tranchant, Christine, Vérin, Marc, Viallet, François, Brice, Alexis, Majounie, Elisa, Corvol, Jean Christophe, Nalls, Michael A., Hernandez, Dena G., Gibbs, J. Raphael, Arepalli, Sampath, Barker, Roger A., Ben-Shlomo, Yoav, Berg, Daniela, Bettella, Francesco, Bhatia, Kailash, de Bie, Rob M.A., Biffi, Alessandro, Bloem, Bastiaan R., Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M., Brockmann, Kathrin, Brooks, Janet, Burn, David J., Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F., Chong, Sean, Clarke, Carl E., Cookson, Mark R., Counsell, Carl, Dartigues, Jean-François, Deloukas, Panos, Deuschl, Günther, Dexter, David T., van Dijk, Karin D., Dillman, Allissa, Dong, Jing, Durif, Frank, Edkins, Sarah, Escott-Price, Valentina, Evans, Jonathan R., Foltynie, Thomas, Gao, Jianjun, Gardner, Michelle, Goate, Alison, Gray, Emma, Guerreiro, Rita, Harris, Clare, van Hilten, Jacobus J., Hofman, Albert, Hollenbeck, Albert, Holmans, Peter, Holton, Janice, Hu, Michèle, Huang, Xuemei, Huber, Heiko, Hudson, Gavin, Hunt, Sarah E., Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V., Kilarski, Laura L., Jansen, Iris E., Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, Lubbe, Steven, Lungu, Codrin, Martinez, María, Mätzler, Walter, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morrison, Karen E., Mudanohwo, Ese, O’Sullivan, Sean S., Owen, Michael J., Pearson, Justin, Perlmutter, Joel S., Pétursson, Hjörvar, Plagnol, Vincent, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Saad, Mohamad, Simón-Sánchez, Javier, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Schulte, Claudia, Sharma, Manu, Shaw, Karen, Sheerin, Una-Marie, Shoulson, Ira, Shulman, Joshua, Sidransky, Ellen, Spencer, Chris C.A., Stefánsson, Hreinn, Stefánsson, Kári, Stockton, Joanna D., Strange, Amy, Talbot, Kevin, Tanner, Carlie M., Tashakkori-Ghanbaria, Avazeh, Trabzuni, Daniah, Traynor, Bryan J., Uitterlinden, André G., Velseboer, Daan, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams-Gray, Caroline H., Winder-Rhodes, Sophie, Wurster, Isabel, Williams, Nigel, Morris, Huw R., Heutink, Peter, Hardy, John, Wood, Nicholas W., Gasser, Thomas, Singleton, Andrew B., Drouet, Valérie, Deramecourt, Vincent, Jacoupy, Maxime, Nicolas, Aude, Cormier-Dequaire, Florence, Hassoun, Sidi Mohamed, Pujol, Claire, Ciura, Sorana, Erpapazoglou, Zoi, Usenko, Tatiana, Maurage, Claude-Alain, Sahbatou, Mourad, Liebau, Stefan, Ding, Jinhui, Bilgic, Basar, Emre, Murat, Erginel-Unaltuna, Nihan, Guven, Gamze, Leutenegger, Anne-Louise, Durr, Alexandra, Deleuze, Jean-François, Tazir, Meriem, Kabashi, Edor, Singleton, Andrew, Corti, Olga

Source: In The American Journal of Human Genetics 3 March 2016 98(3):500-513

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

Authors: Hernandez, Dena G., Nalls, Mike A., Moore, Matthew, Chong, Sean, Dillman, Allissa, Trabzuni, Daniah, Gibbs, J. Raphael, Ryten, Mina, Arepalli, Sampath, Weale, Michael E., Zonderman, Alan B., Troncoso, Juan, O'Brien, Richard, Walker, Robert, Smith, Colin, Bandinelli, Stefania, Traynor, Bryan J., Hardy, John, Singleton, Andrew B., Cookson, Mark R.

Source: In Neurobiology of Disease July 2012 47(1):20-28

Multi air-knife box and method of use

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

Authors: Hammer, 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, Fayçal, Amouri, Rim, Singleton, Andrew B.

Source: In The American Journal of Human Genetics 7 February 2013 92(2):245-251

This result is not displayed to guests.
Login for full access.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Authors: Johnson, Janel O., Mandrioli, Jessica, Benatar, Michael, Abramzon, Yevgeniya, Van Deerlin, Vivianna M., Trojanowski, John Q., Gibbs, J. Raphael, Brunetti, Maura, Gronka, Susan, Wuu, Joanne, Ding, Jinhui, McCluskey, Leo, Martinez-Lage, Maria, Falcone, Dana, Hernandez, Dena G., Arepalli, Sampath, Chong, Sean, Schymick, Jennifer C., Rothstein, Jeffrey, Landi, Francesco, Wang, Yong-Dong, Calvo, Andrea, Mora, Gabriele, Sabatelli, Mario, Monsurrò, Maria Rosaria, Battistini, Stefania, Salvi, Fabrizio, Spataro, Rossella, Sola, Patrizia, Borghero, Giuseppe, Galassi, Giuliana, Scholz, Sonja W., Taylor, J. Paul, Restagno, Gabriella, Chiò, Adriano, Traynor, Bryan J.

Source: In Neuron 2010 68(5):857-864

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

Identifying likely causal connections between gene expression levels using a Mendelian randomization approach

Authors: Yaghootkar, Hanieh, Hernandez, Dena, Nalls, Michael, Wood, Andrew, Gibbs, Raphael, Harries, Lorna, Chong, Sean, Moore, Matthew, Guralnik, Jack, Bandinell, Stefaniai, Murray, Anna, Ferrucci, Luigi, Singleton, Andrew, Melzer, David, Frayling, Timothy

Source: In Clinical Biochemistry September 2011 44(13) Supplement:S294-S294

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Authors: Johnson, Janel O., Mandrioli, Jessica, Benatar, Michael, Abramzon, Yevgeniya, Van Deerlin, Vivianna M., Trojanowski, John Q., Gibbs, J. Raphael, Brunetti, Maura, Gronka, Susan, Wuu, Joanne, Ding, Jinhui, McCluskey, Leo, Martinez-Lage, Maria, Falcone, Dana, Hernandez, Dena G., Arepalli, Sampath, Chong, Sean, Schymick, Jennifer C., Rothstein, Jeffrey, Landi, Francesco, Wang, Yong-Dong, Calvo, Andrea, Mora, Gabriele, Sabatelli, Mario, Monsurrò, Maria Rosaria, Battistini, Stefania, Salvi, Fabrizio, Spataro, Rossella, Sola, Patrizia, Borghero, Giuseppe, Galassi, Giuliana, Scholz, Sonja W., Taylor, J. Paul, Restagno, Gabriella, Chiò, Adriano, Traynor, Bryan J.

Source: In Neuron 2011 69(2):397-397

This result is not displayed to guests.
Login for full access.