Auflistung nach Autor "Hayer, Stefanie Nicole"

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

Golla, Matthias; Guaitoli, Giambattista; Hayer, Stefanie Nicole; Hauser, Stefan; Krahl, Ann-Christin; Nagel, Maike; Samer, Sebastian; Schöls, Ludger; Weber, Jonasz Jeremiasz; Rieß, Olaf; Gloeckner, Christian; Nguyen, Huu Phuc; Hübener-Schmid, Jeannette (2017)

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

Schöls, Ludger; Hayer, Stefanie Nicole (2022)

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

Wilke, Carlo; Hayer, Stefanie Nicole; Schüle-Freyer, Rebecca; Synofzik, Matthis (2018)

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

Hayer, Stefanie Nicole; Santhanakumaran, Vidiyaah; Böhringer, Judith; Schöls, Ludger (2022)

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

Rautenberg, Maren; Hengel, Holger; Wiethoff, Sarah; Schleicher, Erwin; Peter, Andreas; Rattay, Tim Wilfried; Söhn, Anne; Traschütz, Andreas; Röben, Benjamin; Hayer, Stefanie Nicole; Schüle-Freyer, Rebecca; Zeltner, Lena; Haack, Tobias; Schöls, Ludger (2020)

Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9

Korneck, Milena; Raju, Janani; Antony, Justin S.; Mezger, Markus; Hauser, Stefan; Schmitz, Anne S.; Lamsfus Calle, Andrés; Daniel Moreno, Alberto; Schöls, Ludger; Hayer, Stefanie Nicole (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; Demidov, German; Velic, Ana; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Sturm, Marc; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Hengel, Holger; Hayer, Stefanie Nicole; Rieß, Olaf; Schöls, Ludger; Haack, Tobias (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 Jeremiasz; Funke, Claudia; Driessen, Stefan; Magg, Janine; Krebiehl, Guido; Wolburg, Hartwig; Hayer, Stefanie Nicole; Hauser, Stefan; Krüger, Rejko; Schöls, Ludger; Rieß, Olaf; Hübener-Schmid, Jeannette (2018)

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

Wurster, Isabel; Wilke, Carlo; Hengel, Holger; Reichbauer, Jennifer; Armbruster, Marcel; Martus, Peter; Kessler, Christoph; Serna Higuita, Lina María; Rattay, Tim Wilfried; Hayer, Stefanie Nicole; Schöls, Ludger; Schüle-Freyer, Rebecca (2021)

NfL and pNfH are increased in Friedreich's ataxia

Hayer, Stefanie Nicole; Liepelt, Inga; Wilke, Carlo; Martus, Peter; Just, Jennifer; Schöls, Ludger (2020)

Prediction of the disease course in Friedreich ataxia

Schöls, Ludger; Hayer, Stefanie Nicole (2022)

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

Schöls, Ludger; Hayer, Stefanie Nicole (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 Nicole; Brockmann, Kathrin; Schöls, Ludger; Synofzik, Matthis (2018)

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

Bender, Benjamin; Reich, Selina; Synofzik, Matthis; Hayer, Stefanie Nicole; Schöls, Ludger; Schüle-Freyer, Rebecca (2017)

Auflistung nach Autor "Hayer, Stefanie Nicole"

Auflistung nach Autor "Hayer, Stefanie Nicole"

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