Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients von Schüle, Rebecca, Wiethoff, Sarah, Martus, Peter, Karle, Kathrin N., Otto, Susanne, Klebe, Stephan, Klimpe, Sven, Gallenmüller, Constanze, Kurzwelly, Delia, Henkel, Dorothea, Rimmele, Florian, Stolze, Henning, Kohl, Zacharias, Kassubek, Jan, Klockgether, Thomas, Vielhaber, Stefan, Kamm, Christoph, Klopstock, Thomas, Bauer, Peter, Züchner, Stephan, Liepelt-Scarfone, Inga, Schöls, Ludger

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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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Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model von Füger, Petra, Sreekumar, Vrinda, Schüle, Rebecca, Kern, Jeannine V, Stanchev, Doychin T, Schneider, Carola D, Karle, Kathrin N, Daub, Katharina J, Siegert, Vera K, Flötenmeyer, Matthias, Schwarz, Heinz, Schöls, Ludger, Rasse, Tobias M

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DNA methylation signatures of chronic alcohol dependence in purified CD3+ T-cells of patients undergoing alcohol treatment von Brückmann, Christof, Islam, Sumaiya A., MacIsaac, Julia L., Morin, Alexander M., Karle, Kathrin N., Di Santo, Adriana, Wüst, Richard, Lang, Immanuel, Batra, Anil, Kobor, Michael S., Nieratschker, Vanessa

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A spastic paraplegia mouse model reveals REEP1-dependent ER shaping von Beetz, Christian, Koch, Nicole, Khundadze, Mukhran, Zimmer, Geraldine, Nietzsche, Sandor, Hertel, Nicole, Huebner, Antje-Kathrin, Mumtaz, Rizwan, Schweizer, Michaela, Dirren, Elisabeth, Karle, Kathrin N, Irintchev, Andrey, Alvarez, Victoria, Redies, Christoph, Westermann, Martin, Kurth, Ingo, Deufel, Thomas, Kessels, Michael M, Qualmann, Britta, Hübner, Christian A

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Axonal transport deficit in a KIF5A–/– mouse model von Karle, Kathrin N., Möckel, Diana, Reid, Evan, Schöls, Ludger

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Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) von Bender, Benjamin, Klose, Uwe, Lindig, Tobias, Biskup, Saskia, Nägele, Thomas, Schöls, Ludger, Karle, Kathrin N.

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Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier von BONIFERT, Tobias, KARLE, Kathrin N, WOLF, Julia, GONZALEZ, Michael A, SPEZIANI, Fiorella, SCHÜLE, Rebecca, ZÜCHNER, Stephan, SCHÖLS, Ludger, WISSINGER, Bernd, SYNOFZIK, Matthis, TONAGEL, Felix, BATRA, Marion, WILHELM, Christian, THEURER, Yvonne, SCHOENFELD, Caroline, KLUBA, Torsten, KAMENISCH, York, CARELLI, Valerio

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De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) von Karle, Kathrin N, Biskup, Saskia, Schüle, Rebecca, Schweitzer, Katherine J, Krüger, Rejko, Bauer, Peter, Bender, Benjamin, Nägele, Thomas, Schöls, Ludger

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A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia von Helbig, Katherine L., Hedrich, Ulrike B.S., Shinde, Deepali N., Krey, Ilona, Teichmann, Anne-Christin, Hentschel, Julia, Schubert, Julian, Chamberlin, Adam C., Huether, Robert, Lu, Hsiao-Mei, Alcaraz, Wendy A., Tang, Sha, Jungbluth, Chelsy, Dugan, Sarah L., Vainionpää, Leena, Karle, Kathrin N., Synofzik, Matthis, Schöls, Ludger, Schüle, Rebecca, Lehesjoki, Anna-Elina, Helbig, Ingo, Lerche, Holger, Lemke, Johannes R.

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Neurobiological correlates of emotional intelligence in voice and face perception networks von Karle, Kathrin N, Ethofer, Thomas, Jacob, Heike, Brück, Carolin, Erb, Michael, Lotze, Martin, Nizielski, Sophia, Schütz, Astrid, Wildgruber, Dirk, Kreifelts, Benjamin

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Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP) von Karle, Kathrin N, Schüle, Rebecca, Klebe, Stephan, Otto, Susanne, Frischholz, Christian, Liepelt-Scarfone, Inga, Schöls, Ludger

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Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations von Lindig, Tobias, Bender, Benjamin, Hauser, Till-Karsten, Mang, Sarah, Schweikardt, Daniel, Klose, Uwe, Karle, Kathrin N., Schüle, Rebecca, Schöls, Ludger, Rattay, Tim W.

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Clozapine serum concentrations in dopamimetic psychosis in Parkinson’s disease and related disorders von Lutz, Ulrich C., Sirfy, Ahmad, Wiatr, Gerlinde, Altpaß, Danuta, Farger, Gisbert, Gasser, Thomas, Karle, Kathrin N., Batra, Anil

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Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia von Schüle, Rebecca, Brandt, Elisabeth, Karle, Kathrin N., Tsaousidou, Maria, Klebe, Stephan, Klimpe, Sven, Auer-Grumbach, Michaela, Crosby, Andrew H., Hübner, Christian A., Schöls, Ludger, Deufel, Thomas, Beetz, Christian

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AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia von Schlipf, Nina A., Schüle, Rebecca, Klimpe, Sven, Karle, Kathrin N., Synofzik, Matthis, Wolf, Julia, Riess, Olaf, Schöls, Ludger, Bauer, Peter

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AP5Z1/SPG4 8 frequency in autosomal recessive and sporadic spastic paraplegia von Schlipf, Nina A., Schüle, Rebecca, Klimpe, Sven, Karle, Kathrin N., Synofzik, Matthis, Wolf, Julia, Riess, Olaf, Schöls, Ludger, Bauer, Peter

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SA56 - DNA METHYLATION SIGNATURES OF CHRONIC ALCOHOL DEPENDENCE IN PURIFIED CD3+ T-CELLS OF PATIENTS UNDERGOING ALCOHOL TREATMENT von Thomas, Mara, Brueckmann, Christof, Islam, Sumaiya A., Maclsaac, Julia L., Morin, Alexander M., Karle, Kathrin N., Di Santo, Adriana, Wuest, Richard, Lang, Immanuel, Batra, Anil, Kobor, Michael S., Nieratschker, Vanessa

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DNA METHYLATION SIGNATURES OF CHRONIC ALCOHOL DEPENDENCE IN PURIFIED CD3+ T-CELLS OF PATIENTS UNDERGOING ALCOHOL TREATMENT von Thomas, Mara, Brueckmann, Christof, Islam, Sumaiya A., Maclsaac, Julia L., Morin, Alexander M., Karle, Kathrin N., Di Santo, Adriana, Wuest, Richard, Lang, Immanuel, Batra, Anil, Kobor, Michael S., Nieratschker, Vanessa

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A spastic paraplegia mouse model reveals REEP1-dependent ER shaping von Beetz, Christian, Koch, Nicole, Khundadze, Mukhran, Zimmer, Geraldine, Nietzsche, Sandor, Hertel, Nicole, Huebner, Antje-Kathrin, Mumtaz, Rizwan, Schweizer, Michaela, Dirren, Elisabeth, Karle, Kathrin N., Irintchev, Andrey, Alvarez, Victoria, Redies, Christoph, Westermann, Martin, Kurth, Ingo, Deufel, Thomas, Kessels, Michael M., Qualmann, Britta, Hübner, Christian A.

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