Axonal transport deficit in a KIF5A(–/–) mouse model

por Karle, Kathrin N., Möckel, Diana, Reid, Evan, Schöls, Ludger
Publicado em 2012

Validation of differential GDAP1 DNA methylation in alcohol dependence and its potential function as a biomarker for disease severity and therapy outcome

por Brückmann, Christof, Di Santo, Adriana, Karle, Kathrin Nora, Batra, Anil, Nieratschker, Vanessa
Publicado no Epigenetics (2016)

Smn, the spinal muscular atrophy–determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons

por Rossoll, Wilfried, Jablonka, Sibylle, Andreassi, Catia, Kröning, Ann-Kathrin, Karle, Kathrin, Monani, Umrao R., Sendtner, Michael
Publicado em 2003

Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)

por Karle, Kathrin N, Schüle, Rebecca, Klebe, Stephan, Otto, Susanne, Frischholz, Christian, Liepelt-Scarfone, Inga, Schöls, Ludger
Publicado em 2013

AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia

por Schlipf, Nina A, Schüle, Rebecca, Klimpe, Sven, Karle, Kathrin N, Synofzik, Matthis, Wolf, Julia, Riess, Olaf, Schöls, Ludger, Bauer, Peter
Publicado em 2014

Neurobiological correlates of emotional intelligence in voice and face perception networks

por Karle, Kathrin N, Ethofer, Thomas, Jacob, Heike, Brück, Carolin, Erb, Michael, Lotze, Martin, Nizielski, Sophia, Schütz, Astrid, Wildgruber, Dirk, Kreifelts, Benjamin
Publicado no Soc Cogn Affect Neurosci (2018)

DNA methylation signatures of chronic alcohol dependence in purified CD3(+) T-cells of patients undergoing alcohol treatment

por 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
Publicado no Sci Rep (2017)

Spastic Paraplegia Mutation N256S in the Neuronal Microtubule Motor KIF5A Disrupts Axonal Transport in a Drosophila HSP Model

por 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.
Publicado em 2012

Correction: Spastic Paraplegia Mutation N256S in the Neuronal Microtubule Motor KIF5A Disrupts Axonal Transport in a Drosophila HSP Model

por 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.
Publicado em 2013

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

por Schlipf, Nina A, Beetz, Christian, Schüle, Rebecca, Stevanin, Giovanni, Erichsen, Anne Kjersti, Forlani, Sylvie, Zaros, Cécile, Karle, Kathrin, Klebe, Stephan, Klimpe, Sven, Durr, Alexandra, Otto, Susanne, Tallaksen, Chantal M E, Riess, Olaf, Brice, Alexis, Bauer, Peter, Schöls, Ludger
Publicado em 2010

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

por Bonifert, Tobias, Karle, Kathrin N., Tonagel, Felix, Batra, Marion, Wilhelm, Christian, Theurer, Yvonne, Schoenfeld, Caroline, Kluba, Torsten, Kamenisch, York, Carelli, Valerio, Wolf, Julia, Gonzalez, Michael A., Speziani, Fiorella, Schüle, Rebecca, Züchner, Stephan, Schöls, Ludger, Wissinger, Bernd, Synofzik, Matthis
Publicado em 2014

A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

por Khundadze, Mukhran, Kollmann, Katrin, Koch, Nicole, Biskup, Christoph, Nietzsche, Sandor, Zimmer, Geraldine, Hennings, J. Christopher, Huebner, Antje K., Symmank, Judit, Jahic, Amir, Ilina, Elena I., Karle, Kathrin, Schöls, Ludger, Kessels, Michael, Braulke, Thomas, Qualmann, Britta, Kurth, Ingo, Beetz, Christian, Hübner, Christian A.
Publicado em 2013

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

por 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
Publicado em 2013

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

por 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.
Publicado em 2013

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

por 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.
Publicado em 2014

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

por 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.
Publicado no Ann Neurol (2016)