Search Results - Reichbauer, Jennifer

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  1. 1
    Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias

    Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias by Bis, Dana M., Schüle, Rebecca, Reichbauer, Jennifer, Synofzik, Matthis, Rattay, Tim W., Soehn, Anne, de Jonghe, Peter, Schöls, Ludger, Züchner, Stephan

    Published 2017
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  2. 2
    Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

    Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation by Tüngler, Victoria, Doebler-Neumann, Marion, Salandin, Michaela, Kaufmann, Peter, Wolf, Christine, Lucas, Nadja, Harmuth, Florian, Reichbauer, Jennifer, Krägeloh-Mann, Ingeborg, Schüle, Rebecca, Lee-Kirsch, Min Ae

    Published 2019
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  3. 3
    Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia

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

    Published 2021
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  4. 4
    Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4

    Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4 by Kessler, Christoph, Serna‐Higuita, Lina Maria, Wilke, Carlo, Rattay, Tim W., Hengel, Holger, Reichbauer, Jennifer, Stransky, Elke, Leyva‐Gutiérrez, Alejandra, Mengel, David, Synofzik, Matthis, Schöls, Ludger, Martus, Peter, Schüle, Rebecca

    Published 2022
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  5. 5
    Motor protein mutations cause a new form of hereditary spastic paraplegia

    Motor protein mutations cause a new form of hereditary spastic paraplegia by Caballero Oteyza, Andrés, Battaloğlu, Esra, Ocek, Levent, Lindig, Tobias, Reichbauer, Jennifer, Rebelo, Adriana P., Gonzalez, Michael A., Zorlu, Yasar, Ozes, Burcak, Timmann, Dagmar, Bender, Benjamin, Woehlke, Günther, Züchner, Stephan, Schöls, Ludger, Schüle, Rebecca

    Published 2014
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  6. 6
    Solving unsolved rare neurological diseases—a Solve-RD viewpoint

    Solving unsolved rare neurological diseases—a Solve-RD viewpoint by Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E., Reichbauer, Jennifer, Wayand, Melanie, van de Warrenburg, Bart, Schöls, Ludger, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, Synofzik, Matthis

    Published 2021
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  7. 7
    Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

    Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint by Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E., Reichbauer, Jennifer, Wayand, Melanie, van de Warrenburg, Bart, Schöls, Ludger, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, Synofzik, Matthis

    Published 2021
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  8. 8
    Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

    Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78) by 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, Schöls, Ludger, Pöppel, Thorsten, Mollerup Sørensen, Danny, Asselbergh, Bob, Klein, Christine, Zuchner, Stephan, Jordanova, Albena, Vangheluwe, Peter, Tournev, Ivailo, Schüle, Rebecca

    Published 2017
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  9. 9
    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia by Wagner, Matias, Osborn, Daniel P. S., Gehweiler, Ina, Nagel, Maike, Ulmer, Ulrike, Bakhtiari, Somayeh, Amouri, Rim, Boostani, Reza, Hentati, Faycal, Hockley, Maryam M., Hölbling, Benedikt, Schwarzmayr, Thomas, Karimiani, Ehsan Ghayoor, Kernstock, Christoph, Maroofian, Reza, Müller-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, Schüle, Rebecca

    Published 2019
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  10. 10
    FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

    FAHN/SPG35: a narrow phenotypic spectrum across disease classifications by Rattay, Tim W, Lindig, Tobias, Baets, Jonathan, Smets, Katrien, Deconinck, Tine, Söhn, Anne S, Hörtnagel, Konstanze, Eckstein, Kathrin N, Wiethoff, Sarah, Reichbauer, Jennifer, Döbler-Neumann, Marion, Krägeloh-Mann, Ingeborg, Auer-Grumbach, Michaela, Plecko, Barbara, Münchau, 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, Züchner, Stephan, Bauer, Peter, Schöls, Ludger, Schüle, Rebecca

    Published 2019
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  11. 11
    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia by Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, 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, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

    Published 2019
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  12. 12
    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia by Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt C., 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, Tournev, Ivailo, Chamova, Teodora, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

    Published 2019
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  13. 13
    Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

    Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia by 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, Altmüller, 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, Rüdiger, Sturm, Marc, Roeske, Sandra, Jung, Johanna, Bauer, Peter, Lohmann, Ebba, Herms, Stefan, Heilmann-Heimbach, Stefanie, Nicholson, Garth, Mahanjah, Muhammad, Sharkia, Rajech, Carloni, Paolo, Brüstle, Oliver, Klopstock, Thomas, Mathews, Katherine D, Shy, Michael E, de Jonghe, Peter, Chinnery, Patrick F, Horvath, Rita, Kohlhase, Jürgen, Schmitt, Ina, Wolf, Michael, Greschus, Susanne, Amunts, Katrin, Maier, Wolfgang, Schöls, Ludger, Nürnberg, Peter, Zuchner, Stephan, Klockgether, Thomas, Ramirez, Alfredo, Schüle, Rebecca

    Published 2017
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