A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxia

Por Santner, Wolfram, Schocke, Michael, Boesch, Sylvia, Nachbauer, Wolfgang, Egger, Karl
Publicado em 2014

Bioenergetics of the Calf Muscle in Friedreich Ataxia Patients Measured by 31P-MRS Before and After Treatment with Recombinant Human Erythropoietin

Por Nachbauer, Wolfgang, Boesch, Sylvia, Schneider, Rainer, Eigentler, Andreas, Wanschitz, Julia, Poewe, Werner, Schocke, Michael
Publicado em 2013

Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient-Induced Pluripotent Stem Cells

Por Bavassano, Carlo, Eigentler, Andreas, Stanika, Ruslan, Obermair, Gerald J., Boesch, Sylvia, Dechant, Georg, Nat, Roxana
Publicado no Stem Cells Dev (2017)

SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities

Por Zech, Michael, Poustka, Katharina, Boesch, Sylvia, Berutti, Riccardo, Strom, Tim M., Grisold, Wolfgang, Poewe, Werner, Winkelmann, Juliane
Publicado no Case Rep Genet (2017)

White matter changes in patients with Friedreich ataxia after treatment with erythropoietin

Por Egger, Karl, Clemm von Hohenberg, Christian, Schocke, Michael F, Guttmann, Charles RG, Wassermann, Demian, Wigand, Marlene C, Nachbauer, Wolfgang, Kremser, Christian, Sturm, Brigitte, Scheiber-Mojdehkar, Barbara, Kubicki, Marek, Shenton, Martha E, Boesch, Sylvia
Publicado em 2013

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

Por Zech, Michael, Boesch, Sylvia, Maier, Esther M., Borggraefe, Ingo, Vill, Katharina, Laccone, Franco, Pilshofer, Veronika, Ceballos-Baumann, Andres, Alhaddad, Bader, Berutti, Riccardo, Poewe, Werner, Haack, Tobias B., Haslinger, Bernhard, Strom, Tim M., Winkelmann, Juliane
Publicado no Am J Hum Genet (2016)

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Por Tezenas du Montcel, Sophie, Durr, Alexandra, Bauer, Peter, Figueroa, Karla P., Ichikawa, Yaeko, Brussino, Alessandro, Forlani, Sylvie, Rakowicz, Maria, Schöls, Ludger, Mariotti, Caterina, van de Warrenburg, Bart P.C., Orsi, Laura, Giunti, Paola, Filla, Alessandro, Szymanski, Sandra, Klockgether, Thomas, Berciano, José, Pandolfo, Massimo, Boesch, Sylvia, Melegh, Bela, Timmann, Dagmar, Mandich, Paola, Camuzat, Agnès, Goto, Jun, Ashizawa, Tetsuo, Cazeneuve, Cécile, Tsuji, Shoji, Pulst, Stefan-M., Brusco, Alfredo, Riess, Olaf, Brice, Alexis, Stevanin, Giovanni
Publicado em 2014

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6

Por Tezenas du Montcel, Sophie, Durr, Alexandra, Rakowicz, Maria, Nanetti, Lorenzo, Charles, Perrine, Sulek, Anna, Mariotti, Caterina, Rola, Rafal, Schols, Ludger, Bauer, Peter, Dufaure-Garé, Isabelle, Jacobi, Heike, Forlani, Sylvie, Schmitz-Hübsch, Tanja, Filla, Alessandro, Timmann, Dagmar, van de Warrenburg, Bart P, Marelli, Cecila, Kang, Jun-Suk, Giunti, Paola, Cook, Arron, Baliko, Laszlo, Bela, Melegh, Boesch, Sylvia, Szymanski, Sandra, Berciano, José, Infante, Jon, Buerk, Katrin, Masciullo, Marcella, Di Fabio, Roberto, Depondt, Chantal, Ratka, Susanne, Stevanin, Giovanni, Klockgether, Thomas, Brice, Alexis, Golmard, Jean-Louis
Publicado em 2014

The natural history of multiple system atrophy: a prospective European cohort study

Por Wenning, Gregor K, Geser, Felix, Krismer, Florian, Seppi, Klaus, Duerr, Susanne, Boesch, Sylvia, Köllensperger, Martin, Goebel, Georg, Pfeiffer, Karl P, Barone, Paolo, Pellecchia, Maria Teresa, Quinn, Niall P, Koukouni, Vasiliki, Fowler, Clare J, Schrag, Anette, Mathias, Christopher J, Giladi, Nir, Gurevich, Tanya, Dupont, Erik, Ostergaard, Karen, Nilsson, Christer F, Widner, Håkan, Oertel, Wolfgang, Eggert, Karla Maria, Albanese, Alberto, del Sorbo, Francesca, Tolosa, Eduardo, Cardozo, Adriana, Deuschl, Günther, Hellriegel, Helge, Klockgether, Thomas, Dodel, Richard, Sampaio, Cristina, Coelho, Miguel, Djaldetti, Ruth, Melamed, Eldad, Gasser, Thomas, Kamm, Christoph, Meco, Giuseppe, Colosimo, Carlo, Rascol, Olivier, Meissner, Wassilios G, Tison, François, Poewe, Werner
Publicado em 2013