Skeletal Muscle Involvement in Friedreich Ataxia
Indelicato, Elisabetta, Wanschitz, Julia, Löscher, Wolfgang, Boesch, Sylvia
Published in International journal of molecular sciences (13.09.2024)
Published in International journal of molecular sciences (13.09.2024)
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Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
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
Published in American journal of human genetics (01.12.2016)
Published in American journal of human genetics (01.12.2016)
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Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up
Zech, Michael, Boesch, Sylvia, Jochim, Angela, Weber, Sandrina, Meindl, Tobias, Schormair, Barbara, Wieland, Thomas, Lunetta, Christian, Sansone, Valeria, Messner, Michael, Mueller, Joerg, Ceballos‐Baumann, Andres, Strom, Tim M., Colombo, Roberto, Poewe, Werner, Haslinger, Bernhard, Winkelmann, Juliane
Published in Movement disorders (01.04.2017)
Published in Movement disorders (01.04.2017)
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Case report: Monoclonal CGRP-antibody treatment in a migraine patient with a mutation in the mitochondrial single-strand binding protein (SSBP1)
Kaltseis, Katharina, Indelicato, Elisabetta, Broessner, Gregor, Boesch, Sylvia
Published in Frontiers in neurology (15.09.2022)
Published in Frontiers in neurology (15.09.2022)
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Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study
Jacobi, Heike, MD, du Montcel, Sophie Tezenas, PhD, Bauer, Peter, MD, Giunti, Paola, PhD, Cook, Arron, MBBS, Labrum, Robyn, MD, Parkinson, Michael H, MBBS, Durr, Alexandra, PhD, Brice, Alexis, Prof, Charles, Perrine, MD, Marelli, Cecilia, MD, Mariotti, Caterina, MD, Nanetti, Lorenzo, MD, Panzeri, Marta, MD, Rakowicz, Maria, MD, Sulek, Anna, PhD, Sobanska, Anna, MD, Schmitz-Hübsch, Tanja, MD, Schöls, Ludger, MD, Hengel, Holger, MD, Baliko, Laszlo, MD, Melegh, Bela, Prof, Filla, Alessandro, Prof, Antenora, Antonella, MD, Infante, Jon, MD, Berciano, José, Prof, van de Warrenburg, Bart P, PhD, Timmann, Dagmar, MD, Szymanski, Sandra, MD, Boesch, Sylvia, MD, Kang, Jun-Suk, MD, Pandolfo, Massimo, Prof, Schulz, Jörg B, Prof, Molho, Sonia, MSc, Diallo, Alhassane, MD, Klockgether, Thomas, Prof
Published in Lancet neurology (01.11.2015)
Published in Lancet neurology (01.11.2015)
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The natural history of multiple system atrophy: a prospective European cohort study
Wenning, Gregor K, Prof, Geser, Felix, MD, Krismer, Florian, MD, Seppi, Klaus, MD, Duerr, Susanne, MD, Boesch, Sylvia, MD, Köllensperger, Martin, MD, Goebel, Georg, PhD, Pfeiffer, Karl P, PhD, Barone, Paolo, MD, Pellecchia, Maria Teresa, MD, Quinn, Niall P, MD, Koukouni, Vasiliki, MD, Fowler, Clare J, MD, Schrag, Anette, MD, Mathias, Christopher J, MD, Giladi, Nir, MD, Gurevich, Tanya, MD, Dupont, Erik, MD, Ostergaard, Karen, MD, Nilsson, Christer F, MD, Widner, Håkan, MD, Oertel, Wolfgang, MD, Eggert, Karla Maria, MD, Albanese, Alberto, MD, del Sorbo, Francesca, MD, Tolosa, Eduardo, MD, Cardozo, Adriana, MD, Deuschl, Günther, MD, Hellriegel, Helge, MD, Klockgether, Thomas, MD, Dodel, Richard, MD, Sampaio, Cristina, MD, Coelho, Miguel, MD, Djaldetti, Ruth, MD, Melamed, Eldad, MD, Gasser, Thomas, MD, Kamm, Christoph, MD, Meco, Giuseppe, MD, Colosimo, Carlo, MD, Rascol, Olivier, MD, Meissner, Wassilios G, MD, Tison, François, MD, Poewe, Werner, MD
Published in Lancet neurology (01.03.2013)
Published in Lancet neurology (01.03.2013)
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Morphometric MRI profiles of multiple system atrophy variants and implications for differential diagnosis
Krismer, Florian, Seppi, Klaus, Göbel, Georg, Steiger, Ruth, Zucal, Isabel, Boesch, Sylvia, Gizewski, Elke R., Wenning, Gregor K., Poewe, Werner, Scherfler, Christoph
Published in Movement disorders (01.07.2019)
Published in Movement disorders (01.07.2019)
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Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
DU MONTCEL, Sophie Tezenas, DURR, Alexandra, VAN DE WARRENBURG, Bart P. C, ORSI, Laura, GIUNTI, Paola, FILLA, Alessandro, SZYMANSKI, Sandra, KLOCKGETHER, Thomas, BERCIANO, José, PANDOLFO, Massimo, BOESCH, Sylvia, MELEGH, Bela, BAUER, Peter, TIMMANN, Dagmar, MANDICH, Paola, CAMUZAT, Agnès, GOTO, Jun, ASHIZAWA, Tetsuo, CAZENEUVE, Cécile, TSUJI, Shoji, PULST, Stefan-M, BRUSCO, Alfredo, RIESS, Olaf, FIGUEROA, Karla P, BRICE, Alexis, STEVANIN, Giovanni, ICHIKAWA, Yaeko, BRUSSINO, Alessandro, FORLANI, Sylvie, RAKOWICZ, Maria, SCHÖLS, Ludger, MARIOTTI, Caterina
Published in Brain (London, England : 1878) (01.09.2014)
Published in Brain (London, England : 1878) (01.09.2014)
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Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA‐Ataxia Working Group
Harding, Ian H., Chopra, Sidhant, Arrigoni, Filippo, Boesch, Sylvia, Brunetti, Arturo, Cocozza, Sirio, Corben, Louise A., Deistung, Andreas, Delatycki, Martin, Diciotti, Stefano, Dogan, Imis, Evangelisti, Stefania, França, Marcondes C., Göricke, Sophia L., Georgiou‐Karistianis, Nellie, Gramegna, Laura L., Henry, Pierre‐Gilles, Hernandez‐Castillo, Carlos R., Hutter, Diane, Jahanshad, Neda, Joers, James M., Lenglet, Christophe, Lodi, Raffaele, Manners, David N., Martinez, Alberto R. M., Martinuzzi, Andrea, Marzi, Chiara, Mascalchi, Mario, Nachbauer, Wolfgang, Pane, Chiara, Peruzzo, Denis, Pisharady, Pramod K., Pontillo, Giuseppe, Reetz, Kathrin, Rezende, Thiago J. R., Romanzetti, Sandro, Saccà, Francesco, Scherfler, Christoph, Schulz, Jörg B., Stefani, Ambra, Testa, Claudia, Thomopoulos, Sophia I., Timmann, Dagmar, Tirelli, Stefania, Tonon, Caterina, Vavla, Marinela, Egan, Gary F., Thompson, Paul M.
Published in Annals of neurology (01.10.2021)
Published in Annals of neurology (01.10.2021)
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Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich’s ataxia
Indelicato, Elisabetta, Faserl, Klaus, Amprosi, Matthias, Nachbauer, Wolfgang, Schneider, Rainer, Wanschitz, Julia, Sarg, Bettina, Boesch, Sylvia
Published in Frontiers in neuroscience (31.10.2023)
Published in Frontiers in neuroscience (31.10.2023)
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Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1–PP2A protein complex
Krauß, Sybille, Griesche, Nadine, Jastrzebska, Ewa, Chen, Changwei, Rutschow, Désiree, Achmüller, Clemens, Dorn, Stephanie, Boesch, Sylvia M., Lalowski, Maciej, Wanker, Erich, Schneider, Rainer, Schweiger, Susann
Published in Nature communications (2013)
Published in Nature communications (2013)
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Onset features and time to diagnosis in Friedreich's Ataxia
Indelicato, Elisabetta, Nachbauer, Wolfgang, Eigentler, Andreas, Amprosi, Matthias, Matteucci Gothe, Raffaella, Giunti, Paola, Mariotti, Caterina, Arpa, Javier, Durr, Alexandra, Klopstock, Thomas, Schöls, Ludger, Giordano, Ilaria, Bürk, Katrin, Pandolfo, Massimo, Didszdun, Claire, Schulz, Jörg B, Boesch, Sylvia
Published in Orphanet journal of rare diseases (03.08.2020)
Published in Orphanet journal of rare diseases (03.08.2020)
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Induced pluripotent stem cells from friedreich ataxia patients fail to upregulate frataxin during in vitro differentiation to peripheral sensory neurons
Eigentler, Andreas, Boesch, Sylvia, Schneider, Rainer, Dechant, Georg, Nat, Roxana
Published in Stem cells and development (15.12.2013)
Published in Stem cells and development (15.12.2013)
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Presentation, diagnosis, and management of multiple system atrophy in Europe: Final analysis of the European multiple system atrophy registry
Köllensperger, Martin, Geser, Felix, Ndayisaba, Jean-Pierre, Boesch, Sylvia, Seppi, Klaus, Ostergaard, Karen, Dupont, Erik, Cardozo, A., Tolosa, Eduardo, Abele, Michael, Klockgether, Thomas, Yekhlef, Farid, Tison, Francois, Daniels, Christine, Deuschl, Günther, Coelho, Miguel, Sampaio, Cristina, Bozi, Maria, Quinn, Niall, Schrag, Anette, Mathias, Chris J., Fowler, Clare, Nilsson, Christer F., Widner, Håkan, Schimke, Nicole, Oertel, Wolfgang, del Sorbo, Francesca, Albanese, Alberto, Pellecchia, Maria Teresa, Barone, Paolo, Djaldetti, Ruth, Colosimo, Carlo, Meco, Giuseppe, Gonzalez-Mandly, Antonio, Berciano, Jose, Gurevich, Tanya, Giladi, Nir, Galitzky, Monique, Rascol, Olivier, Kamm, Christoph, Gasser, Thomas, Siebert, Uwe, Poewe, Werner, Wenning, Gregor K.
Published in Movement disorders (15.11.2010)
Published in Movement disorders (15.11.2010)
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Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
Giordano, Ilaria, Harmuth, Florian, Jacobi, Heike, Paap, Brigitte, Vielhaber, Stefan, Machts, Judith, Schöls, Ludger, Synofzik, Matthis, Sturm, Marc, Tallaksen, Chantal, Wedding, Iselin M, Boesch, Sylvia, Eigentler, Andreas, van de Warrenburg, Bart, van Gaalen, Judith, Kamm, Christoph, Dudesek, Ales, Kang, Jun-Suk, Timmann, Dagmar, Silvestri, Gabriella, Masciullo, Marcella, Klopstock, Thomas, Neuhofer, Christiane, Ganos, Christos, Filla, Alessandro, Bauer, Peter, Tezenas du Montcel, Sophie, Klockgether, Thomas
Published in Neurology (05.09.2017)
Published in Neurology (05.09.2017)
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