Search Results - Freilinger, Michael

Behavioural biomarkers of typical Rett syndrome: moving towards early identification by Einspieler, Christa, Freilinger, Michael, Marschik, Peter B.

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Isolated cytochrome c oxidase deficiency as a cause of MELAS by Rossmanith, Walter, Freilinger, Michael, Roka, Julia, Raffelsberger, Thomas, Moser-Their, Karin, Prayer, Daniela, Bernert, Günther, Bittner, Reginald

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Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation by Steininger, Jolanda, Rossmanith, Raphael, Geier, Christoph B., Leiss-Piller, Alexander, Thonhauser, Lukas, Weiss, Simone, Hainfellner, Johannes A., Freilinger, Michael, Schmidt, Wolfgang M., Eibl, Martha M., Wolf, Hermann M.

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Autoimmune Epilepsy: Some Epilepsy Patients Harbor Autoantibodies to Glutamate Receptors and dsDNA on both Sides of the Blood-brain Barrier, which may Kill Neurons and Decrease in... by Ganor, Yonatan, Goldberg-Stern, Hadassa, Amrom, Dina, Lerman-Sagie, Tally, Teichberg, Vivian I., Pelled, Dori, Futerman, Anthony H., Ben Zeev, Bruria, Freilinger, Michael, Verheulpen, Denis, Van Bogaert, Patrick, Levite, Mia

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SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease by Fischer, Carina, Trajanoski, Slave, Papić, Lea, Windpassinger, Christian, Bernert, Günther, Freilinger, Michael, Schabhüttl, Maria, Arslan-Kirchner, Mine, Javaher-Haghighi, Poupak, Plecko, Barbara, Senderek, Jan, Rauscher, Christian, Löscher, Wolfgang N., Pieber, Thomas R., Janecke, Andreas R., Auer-Grumbach, Michaela

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Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy by De Simoni, Desiree, Ricken, Gerda, Winklehner, Michael, Koneczny, Inga, Karenfort, Michael, Hustedt, Ulf, Seidel, Ulrich, Abdel-Mannan, Omar, Munot, Pinki, Rinaldi, Simon, Steen, Claudia, Freilinger, Michael, Breu, Markus, Seidl, Rainer, Reindl, Markus, Wanschitz, Julia, Lleixà, Cinta, Bernert, Günther, Wandinger, Klaus-Peter, Junker, Ralf, Querol, Luis, Leypoldt, Frank, Rostásy, Kevin, Höftberger, Romana

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Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia by Chung, Seo-Kyung, Vanbellinghen, Jean-François, Mullins, Jonathan G. L., Robinson, Angela, Hantke, Janina, Hammond, Carrie L., Gilbert, Daniel F., Freilinger, Michael, Ryan, Monique, Kruer, Michael C., Masri, Amira, Gurses, Candan, Ferrie, Colin, Harvey, Kirsten, Shiang, Rita, Christodoulou, John, Andermann, Frederick, Andermann, Eva, Thomas, Rhys H., Harvey, Robert J., Lynch, Joseph W., Rees, Mark I.

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New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms by Bode, Anna, Wood, Sian-Elin, Mullins, Jonathan G. L., Keramidas, Angelo, Cushion, Thomas D., Thomas, Rhys H., Pickrell, William O., Drew, Cheney J. G., Masri, Amira, Jones, Elizabeth A., Vassallo, Grace, Born, Alfred P., Alehan, Fusun, Aharoni, Sharon, Bannasch, Gerald, Bartsch, Marius, Kara, Bulent, Krause, Amanda, Karam, Elie G., Matta, Stephanie, Jain, Vivek, Mandel, Hanna, Freilinger, Michael, Graham, Gail E., Hobson, Emma, Chatfield, Sue, Vincent-Delorme, Catherine, Rahme, Jubran E., Afawi, Zaid, Berkovic, Samuel F., Howell, Owain W., Vanbellinghen, Jean-François, Rees, Mark I., Chung, Seo-Kyung, Lynch, Joseph W.

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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome by Roosing, Susanne, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, Rosti, Rasim O, Schroth, Jana, Mazza, Tommaso, Miccinilli, Elide, Zaki, Maha S, Swoboda, Kathryn J, Milisa-Drautz, Joanne, Dobyns, William B, Mikati, Mohamed A, İncecik, Faruk, Azam, Matloob, Borgatti, Renato, Romaniello, Romina, Boustany, Rose-Mary, Clericuzio, Carol L, D'Arrigo, Stefano, Strømme, Petter, Boltshauser, Eugen, Stanzial, Franco, Mirabelli-Badenier, Marisol, Moroni, Isabella, Bertini, Enrico, Emma, Francesco, Steinlin, Maja, Hildebrandt, Friedhelm, Johnson, Colin A, Freilinger, Michael, Vaux, Keith K, Gabriel, Stacey B, Aza-Blanc, Pedro, Heynen-Genel, Susanne, Ideker, Trey, Dynlacht, Brian D, Lee, Ji Eun, Valente, Enza Maria, Kim, Joon, Gleeson, Joseph G

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