Search Results - Soehn, Anne S

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  1. 1
    The Guanine Nucleotide Exchange Factor Kalirin-7 Is a Novel Synphilin-1 Interacting Protein and Modifies Synphilin-1 Aggregate Transport and Formation

    The Guanine Nucleotide Exchange Factor Kalirin-7 Is a Novel Synphilin-1 Interacting Protein and Modifies Synphilin-1 Aggregate Transport and Formation by Tsai, Yu-Chun, Riess, Olaf, Soehn, Anne S., Nguyen, Huu Phuc

    Published 2012
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  2. 2
    Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients

    Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients by Tsai, Yu-Chun, Metzger, Silke, Riess, Olaf, Soehn, Anne S, Nguyen, Huu Phuc

    Published 2012
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  3. 3
    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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  4. 4
    Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

    Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families by Soehn, Anne S., Rattay, Tim W., Beck-Wödl, Stefanie, Schäferhoff, Karin, Monk, David, Döbler-Neumann, Marion, Hörtnagel, Konstanze, Schlüter, Agatha, Ruiz, Montserrat, Pujol, Aurora, Züchner, Stephan, Riess, Olaf, Schüle, Rebecca, Bauer, Peter, Schöls, Ludger

    Published 2016
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  5. 5
    Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

    Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum by Synofzik, Matthis, Soehn, Anne S, Gburek-Augustat, Janina, Schicks, Julia, Karle, Kathrin N, Schüle, Rebecca, Haack, Tobias B, Schöning, Martin, Biskup, Saskia, Rudnik-Schöneborn, Sabine, Senderek, Jan, Hoffmann, Karl-Titus, MacLeod, Patrick, Schwarz, Johannes, Bender, Benjamin, Krüger, Stefan, Kreuz, Friedmar, Bauer, Peter, Schöls, Ludger

    Published 2013
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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 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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