Introduction to cerebral cavernous malformation: a brief review

Por Kim, Jaehong
Publicado no BMB Rep (2016)

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

Por Gerards, M, Sluiter, W, van den Bosch, B J C, de Wit, L E A, Calis, C M H, Frentzen, M, Akbari, H, Schoonderwoerd, K, Scholte, H R, Jongbloed, R J, Hendrickx, A T M, de Coo, I F M, Smeets, H J M
Publicado em 2009

The landscape of epilepsy-related GATOR1 variants

Por Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor E., Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne-Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, Nordli, Douglas R, Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An-Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., Baulac, Stéphanie
Publicado no Genet Med (2018)

Glial responses during epileptogenesis in Mus musculus point to potential therapeutic targets.

Por Georgia Kalozoumi, Olga Kel-Margoulis, Elizabeth Vafiadaki, David Greenberg, Hélène Bernard, Hermona Soreq, Antoine Depaulis, Despina Sanoudou
Publicado em 2018-01-01

New insights into the genetics of glioblastoma multiforme by familial exome sequencing

Por Backes, Christina, Harz, Christian, Fischer, Ulrike, Schmitt, Jana, Ludwig, Nicole, Petersen, Britt-Sabina, Mueller, Sabine C., Kim, Yoo-Jin, Wolf, Nadine M., Katus, Hugo A., Meder, Benjamin, Furtwängler, Rhoikos, Franke, Andre, Bohle, Rainer, Henn, Wolfram, Graf, Norbert, Keller, Andreas, Meese, Eckart
Publicado no Oncotarget (2014)

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses

Por Addis, Laura, Sproviero, William, Thomas, Sanjeev V, Caraballo, Roberto H, Newhouse, Stephen J, Gomez, Kumudini, Hughes, Elaine, Kinali, Maria, McCormick, David, Hannan, Siobhan, Cossu, Silvia, Taylor, Jacqueline, Akman, Cigdem I, Wolf, Steven M, Mandelbaum, David E, Gupta, Rajesh, van der Spek, Rick A, Pruna, Dario, Pal, Deb K
Publicado no J Med Genet (2018)

MicroRNA Regulation of Endothelial Junction Proteins and Clinical Consequence

Por Zhuang, Yugang, Peng, Hu, Mastej, Victoria, Chen, Weiguo
Publicado no Mediators Inflamm (2016)

Classic 18.5- and 21.5-kDa Myelin Basic Protein Isoforms Associate with Cytoskeletal and SH3-Domain...

Por Smith, Graham S. T., Homchaudhuri, Lopamudra, Boggs, Joan M., Harauz, George
Publicado em 2012

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

Por Dina, Christian, Bouatia-Naji, Nabila, Tucker, Nathan, Delling, Francesca N., Toomer, Katelynn, Durst, Ronen, Perrocheau, Maelle, Fernandez-Friera, Leticia, Solis, Jorge, Le Tourneau, Thierry, Chen, Ming-Huei, Probst, Vincent, Bosse, Yohan, Pibarot, Philippe, Zelenika, Diana, Lathrop, Mark, Hercberg, Serge, Roussel, Ronan, Benjamin, Emelia J., Bonnet, Fabrice, Su Hao, LO, Dolmatova, Elena, Simonet, Floriane, Lecointe, Simon, Kyndt, Florence, Redon, Richard, Le Marec, Hervé, Froguel, Philippe, Ellinor, Patrick T., Vasan, Ramachandran S., Bruneval, Patrick, Norris, Russell A., Milan, David J., Slaugenhaupt, Susan A., Levine, Robert A., Schott, Jean-Jacques, Hagege, Albert A., Jeunemaitre, Xavier
Publicado no Nat Genet (2015)

Nephrotic Syndrome in Children with This Condition

Por Masoud Rezagholizamenjany, Parsa Yousefichaijan
Publicado em 2019-02-01

Metagenomic Composition Analysis of an Ancient Sequenced Polar Bear Jawbone from Svalbard

Por Diogo Pratas, Morteza Hosseini, Gonçalo Grilo, Armando J. Pinho, Raquel M. Silva, Tânia Caetano, João Carneiro, Filipe Pereira
Publicado em 2018-09-01

Binding of APC and dishevelled mediates Wnt5a-regulated focal adhesion dynamics in migrating cells

Por Matsumoto, Shinji, Fumoto, Katsumi, Okamoto, Tetsuji, Kaibuchi, Kozo, Kikuchi, Akira
Publicado em 2010

A Novel WT1 Gene Mutation in a Three-Generation Family with Progressive Isolated Focal Segmental Glomerulosclerosis

Por Benetti, Elisa, Caridi, Gianluca, Malaventura, Cristina, Dagnino, Monica, Leonardi, Emanuela, Artifoni, Lina, Ghiggeri, Gian Marco, Tosatto, Silvio C.E., Murer, Luisa
Publicado em 2010

Analysis of the signaling pathways regulating Src-dependent remodeling of the actin cytoskeleton

Por Winograd-Katz, Sabina E., Brunner, Michal C., Mirlas, Natalia, Geiger, Benjamin
Publicado em 2010

Focal Ischemic Injury with Complex Middle Cerebral Artery in Stroke-Prone Spontaneously Hypertensive Rats with Loss-Of-Function in NADPH Oxidases

Por Yao, Hiroshi, Ferdaus, Mohammed Zubaerul, Zahid, Hasan Md., Ohara, Hiroki, Nakahara, Tatsuo, Nabika, Toru
Publicado no PLoS One (2015)

Era of diagnostic and interventional ultrasound

Por Xu, Hui-Xiong
Publicado em 2011

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

Por Hirvasniemi, A, Lang, H, Lehesjoki, A E, Leisti, J
Publicado em 1994

Dynamics of Positive Frequency Dependent Selection Triggers Selection for Silence

Por I. Hashem, V. De Buck, J. Van Impe
Publicado em 2022-01-01

NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new members of MiT family translocation renal cell carcinoma

Por Pei, Jianming, Cooper, Harry, Flieder, Douglas B., Talarchek, Jacqueline N., Al-Saleem, Tahseen, Uzzo, Robert G., Dulaimi, Essel, Patchefsky, Arthur S., Testa, Joseph R., Wei, Shuanzeng
Publicado no Mod Pathol (2019)

Electric Stimulation of Neurogenesis Improves Behavioral Recovery After Focal Ischemia in Aged Rats

Por Adrian Tudor Balseanu, Monica Grigore, Leonard-Radu Pinosanu, Mark Slevin, Dirk M. Hermann, Daniela Glavan, Aurel Popa-Wagner, Aurel Popa-Wagner
Publicado em 2020-07-01