Browsing Universitätsbibliographie by Author "Hayer, Stefanie Nicole"

Now showing items 1-16 of 16

A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3

Weber, Jonasz J.; Golla, Matthias; Guaitoli, Giambattista; Wanichawan, Pimthanya; Hayer, Stefanie N.; Hauser, Stefan; Krahl, Ann-Christin; Nagel, Maike; Samer, Sebastian; Aronica, Eleonora; Carlson, Cathrine R.; Schoels, Ludger; Riess, Olaf; Gloeckner, Christian J.; Nguyen, Huu P.; Huebener-Schmid, Jeannette (2017)
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development

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. (2022)
Beyond ALS and FTD : the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes

Wilke, Carlo; Baets, Jonathan; De Bleecker, Jan L.; Deconinck, Tine; Biskup, Saskia; Hayer, Stefanie N.; Zuchner, Stephan; Schuele, Rebecca; De Jonghe, Peter; Synofzik, Matthis (2018)
Chitotriosidase is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Hayer, Stefanie N.; Santhanakumaran, Vidiyaah; Boehringer, Judith; Schoels, Ludger (2022)
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy

Rattay, Tim W.; Rautenberg, Maren; Soehn, Anne S.; Hengel, Holger; Traschuetz, Andreas; Roeben, Benjamin; Hayer, Stefanie N.; Schuele, Rebecca; Wiethoff, Sarah; Zeltner, Lena; Haack, Tobias B.; Cegan, Alexander; Schoels, Ludger; Schleicher, Erwin; Peter, Andreas (2020)
Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9

Schmitz, Anne S.; Korneck, Milena; Raju, Janani; Lamsfus-Calle, Andres; Daniel-Moreno, Alberto; Antony, Justin S.; Mezger, Markus; Schoels, Ludger; Hauser, Stefan; Hayer, Stefanie N. (2023)
Generation of an induced pluripotent stem cell line from a patient with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) : HIHCNi003-A

Hayer, Stefanie Nicole; Schelling, Yvonne; Höflinger, Philip; Hauser, Stefan; Schöls, Ludger (2018)
Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A

Hayer, Stefanie Nicole; Schelling, Yvonne; Hübener-Schmid, Jeannette; Weber, Jonasz Jeremiasz; Hauser, Stefan; Schöls, Ludger (2018)
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger (2022)
Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3

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; Krueger, Rejko; Schoels, Ludger; Riess, Olaf; Huebener-Schmid, Jeannette (2018)
Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia

Kessler, Christoph; Serna-Higuita, Lina M.; Rattay, Tim W.; Maetzler, Walter; Wurster, Isabel; Hayer, Stefanie; Wilke, Carlo; Hengel, Holger; Reichbauer, Jennifer; Armbruster, Marcel; Schoels, Ludger; Martus, Peter; Schuele, Rebecca (2021)
NfL and pNfH are increased in Friedreich's ataxia

Hayer, Stefanie Nicole; Liepelt, Inga; Barro, Christian; Wilke, Carlo; Kuhle, Jens; Martus, Peter; Schoels, Ludger; Schulz, Joerg Bernhard; Reetz, Kathrin; Fedosov, Kathrin; Didszun, Claire; Klockgether, Thomas; Giordano, Ilaria; Pandolfo, Massimo; Depondt, Chantal; Rai, Myriam; Boesch, Sylvia; Nachbauer, Wolfgang; Eigentler, Andreas; Indelicato, Elisabetta; Giunti, Paola; Parkinson, Michael; Manso, Katarina; Thomas-Black, Gilbert; Garcia-Moreno, Hector; Solanky, Nita; Abeti, Rosella; Polke, James; Labrum, Robin; Garrido, Rodriguez de Rivera Francisco Javier; Mascias, Javier; Velasco, Sanchez Sara; Garcia, Secades Sergio; Mariotti, Caterina; Nanetti, Lorenzo; Castaldo, Anna; Mongelli, Alessia; Fichera, Mario; Klopstock, Thomas; Karin, Ivan; Stendel, Claudia; Radelfahr, Florentine; Durr, Alexandra; Biet, Marie; Charles, Perrine; Ewenczyk, Claire; Just, Jennifer; Koutsis, Georgios; Walsh, Richard; Bertini, Enrico (2020)
Prediction of the disease course in Friedreich ataxia

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; de Rivera Garrido, Francisco Javier Rodriguez; Schoels, Ludger; Hayer, Stefanie N.; Klockgether, Thomas; Giordano, Ilaria; Didszun, Claire; Rai, Myriam; Pandolfo, Massimo; Rauhut, Holger; Schulz, Joerg B.; Reetz, Kathrin (2022)
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

Reetz, Kathrin; Dogan, Imis; Hilgers, Ralf-Dieter; Giunti, Paola; Parkinson, Michael H.; Mariotti, Caterina; Nanetti, Lorenzo; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; de Rivera Garrido, Francisco Javier Rodriguez; Rummey, Christian; Schoels, Ludger; Hayer, Stefanie N.; Klockgether, Thomas; Giordano, Ilaria; Didszun, Claire; Rai, Myriam; Pandolfo, Massimo; Schulz, Jorg B. (2021)
Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study

Wilke, Carlo; Bender, Friedemann; Hayer, Stefanie N.; Brockmann, Kathrin; Schoels, Ludger; Kuhle, Jens; Synofzik, Matthis (2018)
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Hayer, Stefanie Nicole; Deconinck, Tine; Bender, Benjamin; Smets, Katrien; Zuechner, Stephan; Reich, Selina; Schoels, Ludger; Schuele, Rebecca; De Jonghe, Peter; Baets, Jonathan; Synofzik, Matthis (2017)

Now showing items 1-16 of 16

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