Browsing Universitätsbibliographie by Author "Reichbauer, Jennifer"

Now showing items 1-13 of 13

Aicardi-Goutieres syndrome due to a paternal mosaic IFIH1 mutation

Döbler-Neumann, Marion; Harmuth, Florian; Reichbauer, Jennifer; Krägeloh-Mann, Ingeborg; Schüle, Rebecca (2020)
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Gehweiler, Ina; Nagel, Maike; Ulmer, Ulrike; Kernstock, Christoph; Reich, Selina; Reichbauer, Jennifer; Hölbling, Benedikt; Schüle, Rebecca (2019)
Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4

Kessler, Christoph; Serna-Higuita, Lina Maria; Wilke, Carlo; Hengel, Holger; Reichbauer, Jennifer; Stransky, Elke; Mengel, David; Martus, Peter; Rattay, Tim Wilfried; Leyva-Gutiérrez, Alejandra; Synofzik, Matthis; Schöls, Ludger; Schüle, Rebecca (2022)
FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications

Lindig, Tobias; Eckstein, Kathrin N.; Wiethoff, Sarah; Reichbauer, Jennifer; Bauer, Peter; Rattay, Tim Wilfried; Söhn, Anne; Döbler-Neumann, Marion; Krägeloh-Mann, Ingeborg; Schöls, Ludger; Schüle, Rebecca (2019)
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varon syndrome

Schuster, Stefanie; Reichbauer, Jennifer; Kernstock, Christoph; Spahlinger, Veronika; Zimmermann, Milan Raoul; Schüle, Rebecca; Schöls, Ludger (2020)
Generation of two iPSC lines derived from two unrelated patients with Gaucher disease

Nagel, Maike; Reichbauer, Jennifer; Böhringer, Judith; Schelling, Yvonne; Krägeloh-Mann, Ingeborg; Schüle, Rebecca; Ulmer, Ulrike (2019)
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Reichbauer, Jennifer; Hengel, Holger; Atasu, Burcu; Lindig, Tobias; Sturm, Marc; Bauer, Peter; Lohmann, Ebba; Söhn, Anne; Rattay, Tim Wilfried; Synofzik, Matthis; Schöls, Ludger; Schüle, Rebecca (2017)
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)

Reichbauer, Jennifer; Synofzik, Matthis; Schüle, Rebecca (2015)
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Synofzik, Matthis; Reichbauer, Jennifer; Schöls, Ludger; Schüle, Rebecca (2017)
Motor protein mutations cause a new form of hereditary spastic paraplegia

Lindig, Tobias; Reichbauer, Jennifer; Bender, Benjamin; Schöls, Ludger; Schüle, Rebecca; Caballero Oteyza, Andrés (2014)
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, Rebecca (2021)
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Gehweiler, Ina; Reich, Selina; Reichbauer, Jennifer; Schüle, Rebecca; Kessler, Christoph; Müller, Amelie Johanna; Haack, Tobias; Synofzik, Matthis (2019)
Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias

Reichbauer, Jennifer; Schüle, Rebecca; Synofzik, Matthis; Rattay, Tim Wilfried; Söhn, Anne; Schöls, Ludger (2017)

Now showing items 1-13 of 13

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