Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression

Por Thiele, Holger, du Moulin, Marcel, Barczyk, Katarzyna, George, Christel, Schwindt, Wolfram, Nürnberg, Gudrun, Frosch, Michael, Kurlemann, Gerhard, Roth, Johannes, Nürnberg, Peter, Rutsch, Frank
Publicado em 2010

CD8(+) T-cell pathogenicity in Rasmussen encephalitis elucidated by large-scale T-cell receptor sequencing

Por Schneider-Hohendorf, Tilman, Mohan, Hema, Bien, Christian G., Breuer, Johanna, Becker, Albert, Görlich, Dennis, Kuhlmann, Tanja, Widman, Guido, Herich, Sebastian, Elpers, Christiane, Melzer, Nico, Dornmair, Klaus, Kurlemann, Gerhard, Wiendl, Heinz, Schwab, Nicholas
Publicado no Nat Commun (2016)

Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study

Por Wente, Sarah, Schröder, Simone, Buckard, Johannes, Büttel, Hans-Martin, von Deimling, Florian, Diener, Wilfried, Häussler, Martin, Hübschle, Susanne, Kinder, Silvia, Kurlemann, Gerhard, Kretzschmar, Christoph, Lingen, Michael, Maroske, Wiebke, Mundt, Dirk, Sánchez-Albisua, Iciar, Seeger, Jürgen, Toelle, Sandra P., Boltshauser, Eugen, Brockmann, Knut
Publicado no Orphanet J Rare Dis (2016)

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Por Park, Julien H., Hogrebe, Max, Grüneberg, Marianne, DuChesne, Ingrid, von der Heiden, Ava L., Reunert, Janine, Schlingmann, Karl P., Boycott, Kym M., Beaulieu, Chandree L., Mhanni, Aziz A., Innes, A. Micheil, Hörtnagel, Konstanze, Biskup, Saskia, Gleixner, Eva M., Kurlemann, Gerhard, Fiedler, Barbara, Omran, Heymut, Rutsch, Frank, Wada, Yoshinao, Tsiakas, Konstantinos, Santer, René, Nebert, Daniel W., Rust, Stephan, Marquardt, Thorsten
Publicado no Am J Hum Genet (2015)

LG-26 GERMLINE AND SOMATIC FGFR1 ABNORMALITIES IN DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMORS

Por Rivera, Barbara, Gayden, Tenzin, Carrot-Zhang, Jian, Nadaf, Javad, Boshari, Talia, Faury, Damien, Zeinieh, Michele, Blanc, Romeo, Burk, David, Fahiminiya, Somayyeh, Bareke, Eric, Schüller, Ulrich, Monoranu, Camelia M., Sträter, Ronald, Kerl, Kornelius, Niederstadt, Thomas, Kurlemann, Gerhard, Ellezam, Benjamin, Michalak, Zuzanna, Thom, Maria, Lockhart, Paul, Leventer, Richard, Ohm, Milou, MacGregor, Duncan, Jones, David, Karamchandani, Jason, Greenwood, Celia M.T., Berghuis, Albert, Bens, Susanne, Siebert, Reiner, Zakrzewska, Magdalena, Liberski, Pawel P., Zakrzewski, Krzysztof, Sisodiya, Sanjay, Paulus, Werner, Albrecht, Steffen, Hasselblatt, Martin, Jabado, Nada, Foulkes, William D., Majewski, Jacek
Publicado no Neuro Oncol (2016)

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

Por Rivera, Barbara, Gayden, Tenzin, Carrot-Zhang, Jian, Nadaf, Javad, Boshari, Talia, Faury, Damien, Zeinieh, Michele, Blanc, Romeo, Burk, David L., Fahiminiya, Somayyeh, Bareke, Eric, Schüller, Ulrich, Monoranu, Camelia M., Sträter, Ronald, Kerl, Kornelius, Niederstadt, Thomas, Kurlemann, Gerhard, Ellezam, Benjamin, Michalak, Zuzanna, Thom, Maria, Lockhart, Paul J., Leventer, Richard J., Ohm, Milou, MacGregor, Duncan, Jones, David, Karamchandani, Jason, Greenwood, Celia MT, Berghuis, Albert M., Bens, Susanne, Siebert, Reiner, Zakrzewska, Magdalena, Liberski, Pawel P., Zakrzewski, Krzysztof, Sisodiya, Sanjay M., Paulus, Werner, Albrecht, Steffen, Hasselblatt, Martin, Jabado, Nada, Foulkes, William D, Majewski, Jacek
Publicado no Acta Neuropathol (2016)

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

Por Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J.V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C., Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F., Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L., Laube, Bodo, Syrbe, Steffen
Publicado no Neurology (2016)