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 2014

Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia

por Amprosi, Matthias, Indelicato, Elisabetta, Eigentler, Andreas, Fritz, Josef, Nachbauer, Wolfgang, Boesch, Sylvia
Publicado 2023

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 2013

Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich’s ataxia

por Indelicato, Elisabetta, Faserl, Klaus, Amprosi, Matthias, Nachbauer, Wolfgang, Schneider, Rainer, Wanschitz, Julia, Sarg, Bettina, Boesch, Sylvia
Publicado 2023

Mast Syndrome Outside the Amish Community: SPG21 in Europe

por Amprosi, Matthias, Indelicato, Elisabetta, Nachbauer, Wolfgang, Hussl, Anna, Stendel, Claudia, Eigentler, Andreas, Gallenmüller, Constanze, Boesch, Sylvia, Klopstock, Thomas
Publicado 2022

Instrumented gait analysis defines the walking signature of CACNA1A disorders

por Indelicato, Elisabetta, Raccagni, Cecilia, Runer, Sarah, Hannink, Julius, Nachbauer, Wolfgang, Eigentler, Andreas, Amprosi, Matthias, Wenning, Gregor, Boesch, Sylvia
Publicado 2021

Cardiovascular autonomic testing in the work-up of cerebellar ataxia: insight from an observational single center study

por Indelicato, Elisabetta, Fanciulli, Alessandra, Nachbauer, Wolfgang, Eigentler, Andreas, Amprosi, Matthias, Ndayisaba, Jean-Pierre, Granata, Roberta, Wenning, Gregor, Boesch, Sylvia
Publicado 2019

Familial writer’s cramp: a clinical clue for inherited coenzyme Q(10) deficiency

por Amprosi, Matthias, Zech, Michael, Steiger, Ruth, Nachbauer, Wolfgang, Eigentler, Andreas, Gizewski, Elke R., Guger, Michael, Indelicato, Elisabetta, Boesch, Sylvia
Publicado 2020

Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, R (2) and R (1) relaxometry

por Straub, Sina, Mangesius, Stephanie, Emmerich, Julian, Indelicato, Elisabetta, Nachbauer, Wolfgang, Degenhardt, Katja S., Ladd, Mark E., Boesch, Sylvia, Gizewski, Elke R.
Publicado 2020

The electrophysiological footprint of CACNA1A disorders

por Indelicato, Elisabetta, Unterberger, Iris, Nachbauer, Wolfgang, Eigentler, Andreas, Amprosi, Matthias, Zeiner, Fiona, Haberlandt, Edda, Kaml, Manuela, Gizewski, Elke, Boesch, Sylvia
Publicado 2021

Autonomic function testing in Friedreich’s ataxia

por Indelicato, Elisabetta, Fanciulli, Alessandra, Ndayisaba, Jean-Pierre, Nachbauer, Wolfgang, Eigentler, Andreas, Granata, Roberta, Wanschitz, Julia, Poewe, Werner, Wenning, Gregor K., Boesch, Sylvia
Publicado 2018

Autonomic function testing in spinocerebellar ataxia type 2

por Indelicato, Elisabetta, Fanciulli, Alessandra, Ndayisaba, Jean Pierre, Nachbauer, Wolfgang, Granata, Roberta, Wanschitz, Julia, Wagner, Michaela, Gizewski, Elke R., Poewe, Werner, Wenning, Gregor K., Boesch, Sylvia
Publicado 2018

Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich’s ataxia

por Indelicato, Elisabetta, Kirchmair, Alexander, Amprosi, Matthias, Steixner, Stephan, Nachbauer, Wolfgang, Eigentler, Andreas, Wahl, Nico, Apostolova, Galina, Krogsdam, Anne, Schneider, Rainer, Wanschitz, Julia, Trajanoski, Zlatko, Boesch, Sylvia
Publicado 2023

Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial

por Feil, Katharina, Adrion, Christine, Boesch, Sylvia, Doss, Sarah, Giordano, Ilaria, Hengel, Holger, Jacobi, Heike, Klockgether, Thomas, Klopstock, Thomas, Nachbauer, Wolfgang, Schöls, Ludger, Steiner, Katharina Marie, Stendel, Claudia, Timmann, Dagmar, Naumann, Ivonne, Mansmann, Ulrich, Strupp, Michael
Publicado 2021

Onset features and time to diagnosis in Friedreich’s Ataxia

por 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
Publicado 2020

Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)

por Lynch, David R., Chin, Melanie P., Delatycki, Martin B., Subramony, S. H., Corti, Manuela, Hoyle, J. Chad, Boesch, Sylvia, Nachbauer, Wolfgang, Mariotti, Caterina, Mathews, Katherine D., Giunti, Paola, Wilmot, George, Zesiewicz, Theresa, Perlman, Susan, Goldsberry, Angie, O'Grady, Megan, Meyer, Colin J.
Publicado 2020

Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III...

por Feil, Katharina, Adrion, Christine, Teufel, Julian, Bösch, Sylvia, Claassen, Jens, Giordano, Ilaria, Hengel, Holger, Jacobi, Heike, Klockgether, Thomas, Klopstock, Thomas, Nachbauer, Wolfgang, Schöls, Ludger, Stendel, Claudia, Uslar, Ellen, van de Warrenburg, Bart, Berger, Ingrid, Naumann, Ivonne, Bayer, Otmar, Müller, Hans-Helge, Mansmann, Ulrich, Strupp, Michael
Publicado 2017

Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia

por Lynch, David R., Farmer, Jennifer, Hauser, Lauren, Blair, Ian A., Wang, Qing Qing, Mesaros, Clementina, Snyder, Nathaniel, Boesch, Sylvia, Chin, Melanie, Delatycki, Martin B., Giunti, Paola, Goldsberry, Angela, Hoyle, Chad, McBride, Michael G., Nachbauer, Wolfgang, O'Grady, Megan, Perlman, Susan, Subramony, S. H., Wilmot, George R., Zesiewicz, Theresa, Meyer, Colin
Publicado 2018

Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset

por Porcu, Luca, Fichera, Mario, Nanetti, Lorenzo, Rulli, Eliana, Giunti, Paola, Parkinson, Michael H., Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Indelicato, Elisabetta, Klopstock, Thomas, Stendel, Claudia, Rodríguez de Rivera, Francisco Javier, Schöls, Ludger, Fleszar, Zofia, Giordano, Ilaria, Didszun, Claire, Castaldo, Anna, Rai, Myriam, Klockgether, Thomas, Pandolfo, Massimo, Schulz, Jörg B., Reetz, Kathrin, Mariotti, Caterina
Publicado 2023

Prediction of the disease course in Friedreich ataxia

por Hohenfeld, Christian, Terstiege, Ulrich, Dogan, Imis, Giunti, Paola, Parkinson, Michael H., Mariotti, Caterina, Nanetti, Lorenzo, Fichera, Mario, Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Klopstock, Thomas, Stendel, Claudia, Rodríguez de Rivera Garrido, Francisco Javier, Schöls, Ludger, Hayer, Stefanie N., Klockgether, Thomas, Giordano, Ilaria, Didszun, Claire, Rai, Myriam, Pandolfo, Massimo, Rauhut, Holger, Schulz, Jörg B., Reetz, Kathrin
Publicado 2022