MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study

Autor: Warner, Thomas T, Jaunmuktane, Zane, Boeve, Bradley F, Duara, Ranjan, Graff-Radford, Neill R, Josephs, Keith A, Knopman, David S, Koga, Shunsuke, Murray, Melissa E, Lyons, Kelly E, Pahwa, Rajesh, Petersen, Ronald C, Whitwell, Jennifer L, Grinberg, Lea T, Miller, Bruce, Schlereth, Athena, Spina, Salvatore, Grossman, Murray, Irwin, David J, Suh, EunRan, Trojanowski, John Q, Van Deerlin, Vivianna M, Wolk, David A, Connors, Theresa R, Dooley, Patrick M, Oakley, Derek H, Aldecoa, Iban, Balasa, Mircea, Gelpi, Ellen, Borrego-Écija, Sergi, Gascon-Bayarri, Jordi, Sánchez-Valle, Raquel, Sanz-Cartagena, Pilar, Piñol-Ripoll, Gerard, Bigio, Eileen H, Flanagan, Margaret E, Rogalski, Emily J, Weintraub, Sandra, Schneider, Julie A, Peng, Lihua, Zhu, Xiongwei, Chang, Koping, Troncoso, Juan C, Prokop, Stefan, Newell, Kathy L, Jones, Matthew, Richardson, Anna, Roncaroli, Federico, Snowden, Julie, Allinson, Kieren, Singh, Poonam, Serrano, Geidy E, Flowers, Xena E, Goldman, James E, Heaps, Allison C, Leskinen, Sandra P, Black, Sandra E, Masellis, Mario, King, Andrew, Al-Sarraj, Safa, Troakes, Claire, Hodges, John R, Kril, Jillian J, Kwok, John B, Piguet, Olivier, Roeber, Sigrun, Attems, Johannes, Thomas, Alan J, Evers, Bret M., Bieniek, Kevin F, Sieben, Anne A, Cras, Patrick P, De Vil, Bart B, Bird, Thomas, Castellani, Rudolph J, Chaffee, Ann, Franklin, Erin, Haroutunian, Vahram, Jacobsen, Max, Keene, Dirk, Latimer, Caitlin S, Metcalf, Jeff, Perrin, Richard J, Purohit, Dushyant P, Rissman, Robert A, Schantz, Aimee, Walker, Jamie, De Deyn, Peter P, Duyckaerts, Charles, Le Ber, Isabelle, Seilhean, Danielle, Turbant-Leclere, Sabrina, Ervin, John F, Nennesmo, Inger, Riehl, James, Nacmias, Benedetta, Finger, Elizabeth C, Blauwendraat, Cornelis, Nalls, Mike A, Singleton, Andrew B, Vitale, Dan, Cunha, Cristina, Wszolek, Zbigniew K, Valentino, Rebecca R ^*, Scotton, William J ^{*, *}, Roemer, Shanu F, Lashley, Tammaryn, Heckman, Michael G, Shoai, Maryam, Martinez-Carrasco, Alejandro, Tamvaka, Nicole, Walton, Ronald L, Baker, Matthew C, Macpherson, Hannah L, Real, Raquel, Soto-Beasley, Alexandra I, Mok, Kin, Revesz, Tamas, Christopher, Elizabeth A, DeTure, Michael, Seeley, William W, Lee, Edward B, Frosch, Matthew P, Molina-Porcel, Laura, Gefen, Tamar, Redding-Ochoa, Javier, Ghetti, Bernardino, Robinson, Andrew C, Kobylecki, Christopher, Rowe, James B, Beach, Thomas G, Teich, Andrew F, Keith, Julia L, Bodi, Istvan, Halliday, Glenda M, Gearing, Marla, Arzberger, Thomas, Morris, Christopher M, White, Charles L, 3rd, Mechawar, Naguib, Boluda, Susana, MacKenzie, Ian R, McLean, Catriona, Cykowski, Matthew D, Wang, Shih-Hsiu J, Graff, Caroline, Nagra, Rashed M, Kovacs, Gabor G, Giaccone, Giorgio, Neumann, Manuela, Ang, Lee-Cyn, Carvalho, Agostinho, Morris, Huw R, Rademakers, Rosa, Hardy, John A, Dickson, Dennis W, Rohrer, Jonathan D ^*, Ross, Owen A ^{*, *}

Publikováno v: In The Lancet Neurology May 2024 23(5):487-499

Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms

Autor: Huin, Vincent, Barbier, Mathieu, Bottani, Armand, Lobrinus, Johannes, Clot, Fabienne, Lamari, Foudil, Chat, Laureen, Rucheton, Benoît, Fluchère, Frédérique, Auvin, Stéphane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnès, Caillaud, Catherine, Jornéa, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Ber, Isabelle Le

Publikováno v: Brain - A Journal of Neurology , Oxford University Press (OUP), 2020, 143 (1), pp.303-319

Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders, usually b

Externí odkaz: http://arxiv.org/abs/2011.10319

Amyloid-β peptide signature associated with cerebral amyloid angiopathy in familial Alzheimer's disease with APPdup and Down syndrome.

Autor: Kasri, Amal, Camporesi, Elena, Gkanatsiou, Eleni, Boluda, Susana, Brinkmalm, Gunnar, Stimmer, Lev, Ge, Junyue, Hanrieder, Jörg, Villain, Nicolas, Duyckaerts, Charles, Vermeiren, Yannick, Pape, Sarah E., Nicolas, Gaël, Laquerrière, Annie, De Deyn, Peter Paul, Wallon, David, Blennow, Kaj, Strydom, Andre, Zetterberg, Henrik, Potier, Marie-Claude

Publikováno v: Acta Neuropathologica; 7/18/2024, Vol. 148 Issue 1, p1-19, 19p

Impairment of Glycolysis-Derived l-Serine Production in Astrocytes Contributes to Cognitive Deficits in Alzheimer’s Disease

Autor: Le Douce, Juliette, Maugard, Marianne, Veran, Julien, Matos, Marco, Jégo, Pierrick, Vigneron, Pierre-Antoine, Faivre, Emilie, Toussay, Xavier, Vandenberghe, Michel, Balbastre, Yaël, Piquet, Juliette, Guiot, Elvire, Tran, Nguyet Thuy, Taverna, Myriam, Marinesco, Stéphane, Koyanagi, Ayumi, Furuya, Shigeki, Gaudin-Guérif, Mylène, Goutal, Sébastien, Ghettas, Aurélie, Pruvost, Alain, Bemelmans, Alexis-Pierre, Gaillard, Marie-Claude, Cambon, Karine, Stimmer, Lev, Sazdovitch, Véronique, Duyckaerts, Charles, Knott, Graham, Hérard, Anne-Sophie, Delzescaux, Thierry, Hantraye, Philippe, Brouillet, Emmanuel, Cauli, Bruno, Oliet, Stéphane H.R., Panatier, Aude, Bonvento, Gilles

Publikováno v: In Cell Metabolism 3 March 2020 31(3):503-517

Camelid single-domain antibodies: A versatile tool for in vivo imaging of extracellular and intracellular brain targets

Autor: Li, Tengfei, Vandesquille, Matthias, Koukouli, Fani, Dudeffant, Clémence, Youssef, Ihsen, Lenormand, Pascal, Ganneau, Christelle, Maskos, Uwe, Czech, Christian, Grueninger, Fiona, Duyckaerts, Charles, Dhenain, Marc, Bay, Sylvie, Delatour, Benoît, Lafaye, Pierre

Publikováno v: In Journal of Controlled Release 10 December 2016 243:1-10