Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum von 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

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The Guanine nucleotide exchange factor kalirin-7 is a novel synphilin-1 interacting protein and modifies synphilin-1 aggregate transport and formation von Tsai, Yu-Chun, Riess, Olaf, Soehn, Anne S, Nguyen, Huu Phuc

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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia von 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

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

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proteasomal subunit S6 ATPase is a novel synphilin-1 interacting protein--implications for Parkinson's disease von Marx, Frank P, Soehn, Anne S, Berg, Daniela, Melle, Christian, Schiesling, Carola, Lang, Mira, Kautzmann, Sabine, Strauss, Karsten M, Franck, Thomas, Engelender, Simone, Pahnke, Jens, Dawson, Simon, von Eggeling, Ferdinand, Schulz, Jörg B, Riess, Olaf, Krüger, Rejko

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Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families von 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

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High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles von Günther, Sven, Elert-Dobkowska, Ewelina, Soehn, Anne S., Hinreiner, Sophie, Yoon, Grace, Heller, Raoul, Hellenbroich, Yorck, Hübner, Christian A., Ray, Peter N., Hehr, Ute, Bauer, Peter, Sulek, Anna, Beetz, Christian

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Development and adult morphology of the eye lens in the zebrafish von Dahm, Ralf, Schonthaler, Helia B., Soehn, Anne S., van Marle, Jan, Vrensen, Gijs F.J.M.

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Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease von Metzger, Silke, Rong, Juan, Nguyen, Huu-Phuc, Cape, Austin, Tomiuk, Juergen, Soehn, Anne S., Propping, Peter, Freudenberg-Hua, Yun, Freudenberg, Jan, Tong, Liang, Li, Shi-Hua, Li, Xiao-Jiang, Riess, Olaf

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Genetic analysis of heme oxygenase-1 (HO-1) in German Parkinson’s disease patients von Funke, Claudia, Tomiuk, Juergen, Riess, Olaf, Berg, Daniela, Soehn, Anne S.

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Genetic analysis of coding SNPs in blood-brain barrier transporter MDR1 in European Parkinson’s disease patients von Funke, Claudia, Soehn, Anne S., Tomiuk, Juergen, Riess, Olaf, Berg, Daniela

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Periphilin is strongly expressed in the murine nervous system and is indispensable for murine development von Soehn, Anne S., Pham, Thu-Trang, Schaeferhoff, Karin, Floss, Thomas, Weisenhorn, Daniela M. Vogt, Wurst, Wolfgang, Bonin, Michael, Riess, Olaf

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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications von 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

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Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease von Soehn, Anne S., Franck, Thomas, Biskup, Saskia, Giaime, Emilie, Melle, Christian, Rott, Ruth, Cebo, Daniel, Kalbacher, Hubert, Ott, Erwin, Pahnke, Jens, Meitinger, Thomas, Krüger, Rejko, Gasser, Thomas, Berg, Daniela, von Eggeling, Ferdinand, Engelender, Simone, da Costa, Cristine Alves, Riess, Olaf

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Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy von Rattay, Tim W., Rautenberg, Maren, Söhn, Anne S., Hengel, Holger, Traschütz, Andreas, Röben, Benjamin, Hayer, Stefanie N., Schüle, Rebecca, Wiethoff, Sarah, Zeltner, Lena, Haack, Tobias B., Cegan, Alexander, Schöls, Ludger, Schleicher, Erwin, Peter, Andreas

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Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic von Rattay, Tim W, Just, Jennifer, Röben, Benjamin, Hengel, Holger, Schüle, Rebecca, Synofzik, Matthis, Söhn, Anne S, Winter, Natalie, Dammeier, Nele, Schöls, Ludger, Grimm, Alexander

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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications von 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

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High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles: HUMAN MUTATION von Günther, Sven, Elert-Dobkowska, Ewelina, Soehn, Anne S., Hinreiner, Sophie, Yoon, Grace, Heller, Raoul, Hellenbroich, Yorck, Hübner, Christian A., Ray, Peter N., Hehr, Ute, Bauer, Peter, Sulek, Anna, Beetz, Christian

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Prevalence of THAP1 sequence variants in German patients with primary dystonia von Söhn, Anne S., Glöckle, Nicola, Doetzer, Andrea Duarte, Deuschl, Günther, Felbor, Ute, Topka, Helge R., Schöls, Ludger, Riess, Olaf, Bauer, Peter, Müller, Ulrich, Grundmann, Kathrin

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

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