檢索結果 - Jennifer Reichbauer

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  1. 1
    Motor protein mutations cause a new form of hereditary spastic paraplegia

    Motor protein mutations cause a new form of hereditary spastic paraplegia 由 Andrés Caballero-Oteyza, Esra Battaloğlu, Levent Öcek, Tobias Lindig, Jennifer Reichbauer, Adriana Rebelo, Michael Gonzalez, Yaşar Zorlu, Burçak Özeş, Dagmar Timmann, Benjamin Bender, Günther Woehlke, Stephan Züchner, Lüdger Schöls, Rebecca Schüle

    出版 2014
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  2. 2
    Loss-of-function mutations in the<i>ATP13A2/</i>PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

    Loss-of-function mutations in the<i>ATP13A2/</i>PARK9 gene cause complicated hereditary spastic paraplegia (SPG78) 由 Alejandro Estrada‐Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang, Sarah van Veen, J. Pon Samuel, Lüdger Schöls, Thorsten Pöppel, Danny Mollerup Sørensen, Bob Asselbergh, Christine Klein, Stephan Züchner, Albena Jordanova, Peter Vangheluwe, Ivailo Tournev, Rebecca Schüle

    出版 2016
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  3. 3
    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia 由 Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Fayçal Hentati, Maryam M. Hockley, Benedikt V. Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller‐Felber, Ege Ozkan, Sergio Padilla-López, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Züchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle

    出版 2019
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  4. 4
    FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

    FAHN/SPG35: a narrow phenotypic spectrum across disease classifications 由 Tim W. Rattay, Tobias Lindig, Jonathan Baets, Katrien Smets, Tine Deconinck, Anne S. Söhn, Konstanze Hörtnagel, Kathrin N. Eckstein, Sarah Wiethoff, Jennifer Reichbauer, Marion Döbler‐Neumann, Ingeborg Krägeloh‐Mann, Michaela Auer‐Grumbach, Barbara Plecko, Alexander Münchau, Bernd Wilken, Marc Janauschek, Anne‐Katrin Giese, Jan De Bleecker, Els Ortibus, Martine Debyser, Adolfo López de Munaín, Aurora Pujol, Maria Teresa Bassi, Maria Grazia D’Angelo, Peter De Jonghe, Stephan Züchner, Peter Bauer, Lüdger Schöls, Rebecca Schüle

    出版 2019
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  5. 5
    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia 由 Mohammad Ali Farazi Fard, Adriana Rebelo, Elena Buglo, Hamid Nemati, Hassan Dastsooz, Ina Gehweiler, Selina Reich, Jennifer Reichbauer, Beatriz Quintáns, Andrés Ordóñez‐Ugalde, Andrea Cortese, Steve Courel, Lisa Abreu, Eric Powell, Matt C. Danzi, Nicole Belliard Martuscelli, Dana M. Bis‐Brewer, Feifei Tao, Fariba Zarei, Parham Habibzadeh, Majid Yavarian, Farzaneh Modarresi, Mohammad Silawi, Zahra Tabatabaei, Masoume Yousefi, Hamid Reza Farpour, Christoph Keßler, Elisabeth Mangold, Xenia Kobeleva, Ivailo Tournev, Teodora Chamova, Amelie J. Mueller, Tobias B. Haack, Mark A. Tarnopolsky, Ziv Gan‐Or, Guy A. Rouleau, Matthis Synofzik, María‐Jesús Sobrido, Albena Jordanova, Rebecca Schüle, Stephan Züchner, Mohammad Ali Faghihi

    出版 2019
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  6. 6
    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 由 Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S. Soehn, Jennifer Reichbauer, Feifei Tao, Tim W. Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann‐Heimbach, Garth A. Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D. Mathews, Michael E. Shy, Peter De Jonghe, Patrick F. Chinnery, Rita Horváth, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Lüdger Schöls, Peter Nürnberg, Stephan Züchner, Thomas Klockgether, Alfredo Ramı́rez, Rebecca Schüle

    出版 2017
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