A case of Huntington's disease with two reduced penetrance alleles von Grimm, Kai, Zühlke, Christine, Gerloff, Christian, Zittel, Simone

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Spectrin mutations cause spinocerebellar ataxia type 5 von Ranum, Laura P W, Ikeda, Yoshio, Dick, Katherine A, Weatherspoon, Marcy R, Gincel, Dan, Armbrust, Karen R, Dalton, Joline C, Stevanin, Giovanni, Dürr, Alexandra, Zühlke, Christine, Bürk, Katrin, Clark, H Brent, Brice, Alexis, Rothstein, Jeffrey D, Schut, Lawrence J, Day, John W

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Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations von Elsayed, Solaf M, Heller, Raoul, Thoenes, Michaela, Zaki, Maha S, Swan, Daniel, Elsobky, Ezzat, Zühlke, Christine, Ebermann, Inga, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J

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Instability of expanded CAG CAA repeats in spinocerebellar ataxia type 17 von RUI GAO, MATSUURA, Tohru, COOLBAUGH, Mary, ZÜHLKE, Christine, NAKAMURA, Koichiro, RASMUSSEN, Astrid, SICILIANO, Michael J, ASHIZAWA, Tetsuo, XI LIN

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Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic von Edener, Ulf, Bernard, Veronica, Hellenbroich, Yorck, Gillessen-Kaesbach, Gabriele, Zühlke, Christine

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Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4 von Rundshagen, Uta, Zühlke, Christine, Opitz, Sven, Schwinger, Eberhard, Käsmann-Kellner, Barbara

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Focal dystonia as a presenting sign of spinocerebellar ataxia 17 von Hagenah, Johann M., Zühlke, Christine, Hellenbroich, Yorck, Heide, Wolfgang, Klein, Christine

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Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and... von Zühlke, Christine, Dalski, Andreas, Schwinger, Eberhard, Finckh, Ulrich

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Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes von Gisatulin, Maria, Dobricic, Valerija, Zühlke, Christine, Hellenbroich, Yorck, Tadic, Vera, Münchau, Alexander, Isenhardt, Klaus, Bürk, Katrin, Bahlo, Melanie, Lockhart, Paul J., Lohmann, Katja, Helmchen, Christoph, Brüggemann, Norbert

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Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity von Dalski, Andreas, Pauly, Martje G., Hanssen, Henrike, Hagenah, Johann, Hellenbroich, Yorck, Schmidt, Christian, Strohschehn, Jassemien, Spielmann, Malte, Zühlke, Christine, Brüggemann, Norbert

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Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2 von Bernard, Veronica, Minnerop, Martina, Bürk, Katrin, Kreuz, Friedmar, Gillessen-Kaesbach, Gabriele, Zühlke, Christine

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Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein von Zuhlke, Christine, Burk, Katrin

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Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? von Hedrich, Katja, Pramstaller, Peter P., Stübke, Katrin, Hiller, Anja, Kabakci, Kemal, Purmann, Sabine, Kasten, Meike, Scaglione, Cesa, Schwinger, Eberhard, Volkmann, Jens, Kostic, Vladimir, Vieregge, Peter, Martinelli, Paolo, Abbruzzese, Giovanni, Klein, Christine, Zühlke, Christine

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Pearls & Oy-sters: Family history of Huntington disease disguised a case of dentatorubral-pallidoluysian atrophy von Tunc, Sinem, Tadic, Vera, Zühlke, Christine, Hellenbroich, Yorck, Brüggemann, Norbert

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A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy von Figueroa, Karla P., Gross, Caspar, Buena-Atienza, Elena, Paul, Sharan, Gandelman, Mandi, Kakar, Naseebullah, Sturm, Marc, Casadei, Nicolas, Admard, Jakob, Park, Joohyun, Zühlke, Christine, Hellenbroich, Yorck, Pozojevic, Jelena, Balachandran, Saranya, Händler, Kristian, Zittel, Simone, Timmann, Dagmar, Erdlenbruch, Friedrich, Herrmann, Laura, Feindt, Thomas, Zenker, Martin, Klopstock, Thomas, Dufke, Claudia, Scoles, Daniel R., Koeppen, Arnulf, Spielmann, Malte, Riess, Olaf, Ossowski, Stephan, Haack, Tobias B., Pulst, Stefan M.

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Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study von Rosenbohm, Angela, Pott, Hendrik, Thomsen, Mirja, Rafehi, Haloom, Kaya, Sabine, Szymczak, Silke, Volk, Alexander E., Mueller, Kathrin, Silveira, Isabel, Weishaupt, Jochen H., Tönnies, Holger, Seibler, Philip, Zschiedrich, Katja, Schaake, Susen, Westenberger, Ana, Zühlke, Christine, Depienne, Christel, Trinh, Joanne, Ludolph, Albert C., Klein, Christine, Bahlo, Melanie, Lohmann, Katja

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Do CTG expansions at the SCA8 locus cause ataxia? von Schöls, Ludger, Bauer, Ingrid, Zühlke, Christine, Schulte, Thorsten, Kölmel, Christina, Bürk, Katrin, Topka, Helge, Bauer, Peter, Przuntek, Horst, Riess, Olaf

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Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene von Zühlke, Christine, Rless, Olaf, Bockel, Barbara, Lange, Herwlg, Thies, Ulrike

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Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation von Doss, Sarah, Lohmann, Katja, Seibler, Philip, Arns, Björn, Klopstock, Thomas, Zühlke, Christine, Freimann, Karen, Winkler, Susen, Lohnau, Thora, Drungowski, Mario, Nürnberg, Peter, Wiegers, Karin, Lohmann, Ebba, Naz, Sadaf, Kasten, Meike, Bohner, Georg, Ramirez, Alfredo, Endres, Matthias, Klein, Christine

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Clinical and Neurophysiological Profile of Four German Families with Spinocerebellar Ataxia Type 14 von Ganos, Christos, Zittel, Simone, Minnerop, Martina, Schunke, Odette, Heinbokel, Christina, Gerloff, Christian, Zühlke, Christine, Bauer, Peter, Klockgether, Thomas, Münchau, Alexander, Bäumer, Tobias

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