Browsing Universitätsbibliographie by Author "Reichbauer, Jennifer"

DSpace Repository

Browsing Universitätsbibliographie by Author "Reichbauer, Jennifer"

Sort by: Order: Results:

  • Aicardi-Goutieres syndrome due to a paternal mosaic IFIH1 mutation
    Tuengler, Victoria; Doebler-Neumann, Marion; Salandin, Michaela; Kaufmann, Peter; Wolf, Christine; Lucas, Nadja; Harmuth, Florian; Reichbauer, Jennifer; Kraegeloh-Mann, Ingeborg; Schuele, Rebecca; Lee-Kirsch, Min Ae (2020)
  • Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
    Wagner, Matias; Osborn, Daniel P. S.; Gehweiler, Ina; Nagel, Maike; Ulmer, Ulrike; Bakhtiari, Somayeh; Amouri, Rim; Boostani, Reza; Hentati, Faycal; Hockley, Maryam M.; Hoelbling, Benedikt; Schwarzmayr, Thomas; Karimiani, Ehsan Ghayoor; Kernstock, Christoph; Maroofian, Reza; Mueller-Felber, Wolfgang; Ozkan, Ege; Padilla-Lopez, Sergio; Reich, Selina; Reichbauer, Jennifer; Darvish, Hossein; Shahmohammadibeni, Neda; Tafakhori, Abbas; Vill, Katharina; Zuchner, Stephan; Kruer, Michael C.; Winkelmann, Juliane; Jamshidi, Yalda; Schuele, 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; Rattay, Tim W.; Hengel, Holger; Reichbauer, Jennifer; Stransky, Elke; Leyva-Gutierrez, Alejandra; Mengel, David; Synofzik, Matthis; Schoels, Ludger; Martus, Peter; Schuele, Rebecca (2022)
  • FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications
    Rattay, Tim W.; Lindig, Tobias; Baets, Jonathan; Smets, Katrien; Deconinck, Tine; Soehn, Anne S.; Hoertnagel, Konstanze; Eckstein, Kathrin N.; Wiethoff, Sarah; Reichbauer, Jennifer; Doebler-Neumann, Marion; Kraegeloh-Mann, Ingeborg; Auer-Grumbach, Michaela; Plecko, Barbara; Muenchau, Alexander; Wilken, Bernd; Janauschek, Marc; Giese, Anne-Katrin; De Bleecker, Jan L.; Ortibus, Els; Debyser, Martine; Lopez de Munain, Adolfo; Pujol, Aurora; Bassi, Maria Teresa; D'Angelo, Maria Grazia; De Jonghe, Peter; Zuchner, Stephan; Bauer, Peter; Schoels, Ludger; Schuele, Rebecca (2019)
  • FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varon syndrome
    Zimmermann, Milan; Schuster, Stefanie; Boesch, Sylvia; Korenke, G. Christoph; Mohr, Julia; Reichbauer, Jennifer; Kernstock, Christoph; Kotzot, Dieter; Spahlinger, Veronika; Schuele-Freyer, Rebecca; Schoels, 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
    Minnerop, Martina; Kurzwelly, Delia; Wagner, Holger; Soehn, Anne S.; Reichbauer, Jennifer; Tao, Feifei; Rattay, Tim W.; Peitz, Michael; Rehbach, Kristina; Giorgetti, Alejandro; Pyle, Angela; Thiele, Holger; Altmueller, Janine; Timmann, Dagmar; Karaca, Ilker; Lennarz, Martina; Baets, Jonathan; Hengel, Holger; Synofzik, Matthis; Atasu, Burcu; Feely, Shawna; Kennerson, Marina; Stendel, Claudia; Lindig, Tobias; Gonzalez, Michael A.; Stirnberg, Ruediger; Sturm, Marc; Roeske, Sandra; Jung, Johanna; Bauer, Peter; Lohmann, Ebba; Herms, Stefan; Heilmann-Heimbach, Stefanie; Nicholson, Garth; Mahanjah, Muhammad; Sharkia, Rajech; Carloni, Paolo; Bruestle, Oliver; Klopstock, Thomas; Mathews, Katherine D.; Shy, Michael E.; de Jonghe, Peter; Chinnery, Patrick F.; Horvath, Rita; Kohlhase, Juergen; Schmitt, Ina; Wolf, Michael; Greschus, Susanne; Amunts, Katrin; Maier, Wolfgang; Schoels, Ludger; Nuernberg, Peter; Zuchner, Stephan; Klockgether, Thomas; Ramirez, Alfredo; Schuele, Rebecca (2017)
  • Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)
    Sultana, Saki; Reichbauer, Jennifer; Schuele, Rebecca; Mochel, Fanny; Synofzik, Matthis; van der Spoel, Aarnoud C. (2015)
  • Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
    Estrada-Cuzcano, Alejandro; Martin, Shaun; Chamova, Teodora; Synofzik, Matthis; Timmann, Dagmar; Holemans, Tine; Andreeva, Albena; Reichbauer, Jennifer; De Rycke, Riet; Chang, Dae-In; van Veen, Sarah; Samuel, Jean; Schoels, Ludger; Poppel, Thorsten; Sorensen, Danny Mollerup; Asselbergh, Bob; Klein, Christine; Zuchner, Stephan; Jordanova, Albena; Vangheluwe, Peter; Tournev, Ivailo; Schule, Rebecca (2017)
  • Motor protein mutations cause a new form of hereditary spastic paraplegia
    Oteyza, Andres Caballero; Battaloglu, Esra; Ocek, Levent; Lindig, Tobias; Reichbauer, Jennifer; Rebelo, Adriana P.; Gonzalez, Michael A.; Zorlu, Yasar; Ozes, Burcak; Timmann, Dagmar; Bender, Benjamin; Woehlke, Guenther; Zuechner, Stephan; Schoels, Ludger; Schuele, Rebecca (2014)
  • 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)
  • Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
    Fard, Mohammad Ali Farazi; Rebelo, Adriana P.; Buglo, Elena; Nemati, Hamid; Dastsooz, Hassan; Gehweiler, Ina; Reich, Selina; Reichbauer, Jennifer; Quintans, Beatriz; Ordonez-Ugalde, Andres; Cortese, Andrea; Courel, Steve; Abreu, Lisa; Powell, Eric; Danzi, Matt; Martuscelli, Nicole B.; Bis-Brewer, Dana M.; Tao, Feifei; Zarei, Fariba; Habibzadeh, Parham; Yavarian, Majid; Modarresi, Farzaneh; Silawi, Mohammad; Tabatabaei, Zahra; Yousefi, Masoume; Farpour, Hamid Reza; Kessler, Christoph; Mangold, Elisabeth; Kobeleva, Xenia; Mueller, Amelie J.; Haack, Tobias B.; Tarnopolsky, Mark; Gan-Or, Ziv; Rouleau, Guy A.; Synofzik, Matthis; Sobrido, Maria-Jesus; Jordanova, Albena; Schule, Rebecca; Zuchner, Stephan; Faghihi, Mohammad Ali (2019)
  • Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias
    Bis, Dana M.; Schuele, Rebecca; Reichbauer, Jennifer; Synofzik, Matthis; Rattay, Tim W.; Soehn, Anne; de Jonghe, Peter; Schoels, Ludger; Zuchner, Stephan (2017)