Brain inflammation is accompanied by peripheral inflammation in Cstb(−/−) mice, a model for progressive myoclonus epilepsy

Por Okuneva, Olesya, Li, Zhilin, Körber, Inken, Tegelberg, Saara, Joensuu, Tarja, Tian, Li, Lehesjoki, Anna-Elina
Publicado no J Neuroinflammation (2016)

Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb(-/-) Microglia

Por Körber, Inken, Katayama, Shintaro, Einarsdottir, Elisabet, Krjutškov, Kaarel, Hakala, Paula, Kere, Juha, Lehesjoki, Anna-Elina, Joensuu, Tarja
Publicado no PLoS One (2016)

Cystatin B Deficiency Sensitizes Neurons to Oxidative Stress in Progressive Myoclonus Epilepsy, EPM1

Por Lehtinen, Maria K., Tegelberg, Saara, Schipper, Hyman, Su, Haixiang, Zukor, Hillel, Manninen, Otto, Kopra, Outi, Joensuu, Tarja, Hakala, Paula, Bonni, Azad, Lehesjoki, Anna-Elina
Publicado em 2009

Gene Expression Alterations in the Cerebellum and Granule Neurons of Cstb(−/−) Mouse Are Associated with Early Synaptic Changes and Inflammation

Por Joensuu, Tarja, Tegelberg, Saara, Reinmaa, Eva, Segerstråle, Mikael, Hakala, Paula, Pehkonen, Heidi, Korpi, Esa R., Tyynelä, Jaana, Taira, Tomi, Hovatta, Iiris, Kopra, Outi, Lehesjoki, Anna-Elina
Publicado em 2014

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

Por Joensuu, Tarja, Hämäläinen, Riikka, Yuan, Bo, Johnson, Cheryl, Tegelberg, Saara, Gasparini, Paolo, Zelante, Leopoldo, Pirvola, Ulla, Pakarinen, Leenamaija, Lehesjoki, Anna-Elina, la Chapelle, Albert de, Sankila, Eeva-Marja
Publicado em 2001

Development of a genotyping microarray for Usher syndrome

Por Cremers, Frans P M, Kimberling, William J, Külm, Maigi, de Brouwer, Arjan P, van Wijk, Erwin, te Brinke, Heleen, Cremers, Cor W R J, Hoefsloot, Lies H, Banfi, Sandro, Simonelli, Francesca, Fleischhauer, Johannes C, Berger, Wolfgang, Kelley, Phil M, Haralambous, Elene, Bitner‐Glindzicz, Maria, Webster, Andrew R, Saihan, Zubin, De Baere, Elfride, Leroy, Bart P, Silvestri, Giuliana, McKay, Gareth J, Koenekoop, Robert K, Millan, Jose M, Rosenberg, Thomas, Joensuu, Tarja, Sankila, Eeva‐Marja, Weil, Dominique, Weston, Mike D, Wissinger, Bernd, Kremer, Hannie
Publicado em 2007

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Por Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E, Hildebrand, Michael S, Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E, Criscuolo, Chiara, Filla, Alessandro, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D, Ozkara, Cigdem, Andrade, Danielle M, Engelsen, Bernt A, Crespel, Arielle, Lindenau, Matthias, Lohmann, Ebba, Saletti, Veronica, Massano, João, Privitera, Michael, Espay, Alberto J, Kauffmann, Birgit, Duchowny, Michael, Møller, Rikke S, Straussberg, Rachel, Afawi, Zaid, Ben-Zeev, Bruria, Samocha, Kaitlin E, Daly, Mark J, Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna-Elina
Publicado no Nat Genet (2014)