Genetic Analysis of Synphilin-1 in Familial Parkinson's Disease

Autor: M. Farrer, A. Destée, C. Levecque, A. Singleton, S. Engelender, E. Becquet, V. Mouroux, F. Richard, L. Defebvre, R. Crook, D. Hernandez, C.A. Ross, J. Hardy, P. Amouyel, M-C. Chartier-Harlin

Publikováno v: Neurobiology of Disease, Vol 8, Iss 2, Pp 317-323 (2001)

α-Synuclein is present in Lewy bodies of patients with both sporadic and familial Parkinson's disease. However, pathogenic mutations Ala30Pro and Ala53Thr in α-synuclein are rare causes of disease. Synphilin-1 has been demonstrated to associate wit

Externí odkaz: https://doaj.org/article/ebbf89f6e2394ffa8c1468abdd7dffa7

Early cognitive decline after bilateral subthalamic deep brain stimulation in Parkinson's disease patients with GBA mutations

Autor: Benchetrit, Eve, Delaby, Laure, Berthet, Deborah, Danjou, Fabrice, Vidaihlet, Marie, Krack, Paul, Pelissier, Pierre, Morand, Dominique, Delaigue, Christine, Barun, Nadia, Anheim, Mathieu, Pleuvret, Marie, Destée, Alain, Defebvre, Luc, Moreau, Caroline, Simonin, Clémence, Ryckewaert, Gilles, Kreisler, Alexandre, Mutez, Eugénie, Carrière, Nicolas, Hopes, Lucie, Tard, Céline, Grolez, Guillaume, Dujardin, Kathy, Pecheux, Nathalie, Delliaux, Marie, Rolland, Anne-Sophie, Broussolle, Emmanuel, Laurencin, Chloè, Tison, François, Burbaud, Pierre, Mangone, Graziella, Bekadar, Samir, Cormier-Dequaire, Florence, Tahiri, Khadija, Welaratne, Arlette, Czernecki, Virginie, Pineau, Fanny, Karachi, Carine, Castrioto, Anna, Durif, Frank, Tranchant, Christine, Devos, David, Thobois, Stéphane, Meissner, Wassilios G, Navarro, Maria Soledad, Cornu, Philippe, Lesage, Suzanne, Brice, Alexis, Welter, Marie Laure, Corvol, Jean-Christophe

Publikováno v: In Parkinsonism and Related Disorders July 2020 76:56-62

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Autor: Coleman, A, Santos, R Dar, Decolongon, J, Sturrock, A, Bardinet, E, Ret, C Jauff, Justo, D, Lehericy, S, Marelli, C, Nigaud, K, Valabrègue, R, van den Bogaard, SJA, Dumas, E M, van der Grond, J, t'Hart, EP, Jurgens, C, Witjes-Ane, M-N, Arran, N, Callaghan, J, Stopford, C, Frost, C, Jones, R, Hobbs, N, Lahiri, N, Ordidge, R, Owen, G, Pepple, T, Read, J, Say, M, Wild, E, Patel, A, Fox, N C, Gibbard, C, Malone, I, Crawford, H, Whitehead, D, Keenan, S, Cash, D M, Berna, C, Bechtel, N, Bohlen, S, Man, A Hoff, Kraus, P, Axelson, E, Wang, C, Acharya, T, Lee, S, Monaco, W, Campbell, C, Queller, S, Whitlock, K, Campbell, M, Frajman, E, Milchman, C, O'Regan, A, Labuschagne, I, Stout, J, Landwehrmeyer, B, Craufurd, D, Scahill, R, Hicks, S, Kennard, C, Johnson, H, Tobin, A, Rosas, HD, Reilmann, R, Borowsky, B, Pourchot, C, Andrews, S C, Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna Rita, Biunno, Ida, Bonelli, Raphael, Burgunder, Jean-Marc, Dunnett, Stephen, Ferreira, Joaquim, Handley, Olivia, Heiberg, Arvid, Illmann, Torsten, Landwehrmeyer, G. Bernhard, Levey, Jamie, Ramos-Arroyo, Maria A., Nielsen, Jørgen, Koivisto, Susana Pro, Päivärinta, Markku, Roos, Raymund A.C., Sebastián, A Rojo, Tabrizi, Sarah, Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström, Jan, Zaremba, Jacek, Baake, Verena, Barth, Katrin, Garde, Monica Bascuñana, Betz, Sabrina, Bos, Reineke, Callaghan, Jenny, Come, Adrien, Guedes, Leonor Correia, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Gilling, Mette, Gustafsson, Lena, Handley, Olivia J, Hvalstedt, Carina, Held, Christine, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saül, Mestre, Tiago, Minster, Sara, Monza, Daniela, Mütze, Lisanne, Oehmen, Martin, Orth, Michael, Padieu, Hélène, Paterski, Laurent, Peppa, Nadia, Di Renzo, Martina, Rialland, Amandine, Røren, Niini, Šašinková, Pavla, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, da Silva, Wildson Vieira, van Walsem, Marleen R, Whalstedt, Carina, Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Bonelli, Raphael M., Lilek, Sabine, Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Magnet, Markus, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Müller, Christoph, Poewe, Werner, Seppi, Klaus, Sprenger, Fabienne, Wenning, Gregor, Boogaerts, Andrea, Calmeyn, Godelinde, Delvaux, Isabelle, Liessens, Dirk, Somers, Nele, Dupuit, Michel, Minet, Cécile, van Paemel, Dominique, Ribaï, Pascale, van Reijen, Dimphna, Klempír, Jirí, Majerová, Veronika, Roth, Jan, Stárková, Irena, Hjermind, Lena E., Jacobsen, Oda, Nielsen, Jørgen E., Larsen, Ida Unmack, Vinther-Jensen, Tua, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Barthélémy, Rekha, De Bruycker, Christelle, Carette, Maryline Cabaret Anne-Sophie, Defebvre, Eric Decorte Luc, Delliaux, Marie, Delval, Arnaud, Destee, Alain, Dujardin, Kathy, Lemaire, Marie-Hélène, Manouvrier, Sylvie, Peter, Mireille, Plomhouse, Lucie, Sablonnière, Bernard, Simonin, Clémence, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Berrissoul, Hassan, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Godefroy, Olivier, Krystkowiak, Pierre, Mantaux, Béatrice, Roussel, Martine, Wannepain, Sandrine, Azulay, Jean-Philippe, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Mundler, Laura, Anheim, Mathieu, Julié, Celine, Boukbiza, 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Publikováno v: In The Lancet Neurology September 2017 16(9):701-711

Is there a role for ghrelin in central dopaminergic systems? Focus on nigrostriatal and mesocorticolimbic pathways

Autor: Stievenard, Alicia, Méquinion, Mathieu, Andrews, Zane B., Destée, Alain, Chartier-Harlin, Marie-Christine, Viltart, Odile, Vanbesien-Mailliot, Christel C.

Publikováno v: In Neuroscience and Biobehavioral Reviews February 2017 73:255-275

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

Autor: 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

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