Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia

por Hayer, Stefanie N., Santhanakumaran, Vidiyaah, Böhringer, Judith, Schöls, Ludger
Publicado 2022

NfL and pNfH are increased in Friedreich’s ataxia

por Hayer, Stefanie Nicole, Liepelt, Inga, Barro, Christian, Wilke, Carlo, Kuhle, Jens, Martus, Peter, Schöls, Ludger
Publicado 2020

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

por Hayer, Stefanie Nicole, Deconinck, Tine, Bender, Benjamin, Smets, Katrien, Züchner, Stephan, Reich, Selina, Schöls, Ludger, Schüle, Rebecca, De Jonghe, Peter, Baets, Jonathan, Synofzik, Matthis
Publicado 2017

Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia

por Kessler, Christoph, Serna‐Higuita, Lina M., Rattay, Tim W., Maetzler, Walter, Wurster, Isabel, Hayer, Stefanie, Wilke, Carlo, Hengel, Holger, Reichbauer, Jennifer, Armbruster, Marcel, Schöls, Ludger, Martus, Peter, Schüle, Rebecca
Publicado 2021

Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy

por Rattay, Tim W., Rautenberg, Maren, Söhn, Anne S., Hengel, Holger, Traschütz, Andreas, Röben, Benjamin, Hayer, Stefanie N., Schüle, Rebecca, Wiethoff, Sarah, Zeltner, Lena, Haack, Tobias B., Cegan, Alexander, Schöls, Ludger, Schleicher, Erwin, Peter, Andreas
Publicado 2020

Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development

por Papapetropoulos, Spyros, Pontius, Angela, Finger, Elizabeth, Karrenbauer, Virginija, Lynch, David S., Brennan, Matthew, Zappia, Samantha, Koehler, Wolfgang, Schoels, Ludger, Hayer, Stefanie N., Konno, Takuya, Ikeuchi, Takeshi, Lund, Troy, Orthmann-Murphy, Jennifer, Eichler, Florian, Wszolek, Zbigniew K.
Publicado 2022

Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3

por Harmuth, Tina, Prell-Schicker, Caroline, Weber, Jonasz J., Gellerich, Frank, Funke, Claudia, Drießen, Stefan, Magg, Janine C. D., Krebiehl, Guido, Wolburg, Hartwig, Hayer, Stefanie N., Hauser, Stefan, Krüger, Rejko, Schöls, Ludger, Riess, Olaf, Hübener-Schmid, Jeannette
Publicado 2018

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