OpenURL Connection Search

Select item for more details and to access through your institution.

Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-158
By:
- Karle, Kathrin N.;
- Schüle, Rebecca;
- Klebe, Stephan;
- Otto, Susanne;
- Frischholz, Christian;
- Liepelt-Scarfone, Inga;
- Schöls, Ludger
Publication type:
Article
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-41
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
Publication type:
Article
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Published in:
2013
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
Publication type:
journal article
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).
Published in:
2013
By:
- Karle, Kathrin N;
- Schüle, Rebecca;
- Klebe, Stephan;
- Otto, Susanne;
- Frischholz, Christian;
- Liepelt-Scarfone, Inga;
- Schöls, Ludger
Publication type:
journal article
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
Published in:
2013
By:
- 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
Publication type:
journal article
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
Published in:
Journal of Clinical Investigation, 2013, v. 123, n. 10, p. 4273, doi. 10.1172/JCI65665
By:
- 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.
Publication type:
Article
Neurobiological correlates of emotional intelligence in voice and face perception networks.
Published in:
Social Cognitive & Affective Neuroscience, 2018, v. 13, n. 2, p. 233, doi. 10.1093/scan/nsy001
By:
- Karle, Kathrin N;
- Ethofer, Thomas;
- Jacob, Heike;
- Brück, Carolin;
- Erb, Michael;
- Lotze, Martin;
- Nizielski, Sophia;
- Schütz, Astrid;
- Wildgruber, Dirk;
- Kreifelts, Benjamin
Publication type:
Article
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons.
Published in:
Journal of Cell Biology, 2003, v. 163, n. 4, p. 801, doi. 10.1083/jcb.200304128
By:
- Rossoll, Wilfried;
- Jablonka, Sibylle;
- Andreassi, Catia;
- Kröning, Ann-Kathrin;
- Karle, Kathrin;
- Monani, Umrao R.;
- Sendtner, Michael
Publication type:
Article
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1065, doi. 10.1038/ejhg.2010.68
By:
- 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
Publication type:
Article
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 8, p. 2164, doi. 10.1093/brain/awu165
By:
- 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
Publication type:
Article
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Published in:
2016
By:
- 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
Publication type:
journal article
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Published in:
2016
By:
- 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
Publication type:
journal article
Expanded phenotypic spectrum of the m.8344A>G 'MERRF' mutation: data from the German mitoNET registry.
Published in:
Journal of Neurology, 2016, v. 263, n. 5, p. 961, doi. 10.1007/s00415-016-8086-3
By:
- Altmann, Judith;
- Büchner, Boriana;
- Nadaj-Pakleza, Aleksandra;
- Schäfer, Jochen;
- Jackson, Sandra;
- Lehmann, Diana;
- Deschauer, Marcus;
- Kopajtich, Robert;
- Lautenschläger, Ronald;
- Kuhn, Klaus;
- Karle, Kathrin;
- Schöls, Ludger;
- Schulz, Jörg;
- Weis, Joachim;
- Prokisch, Holger;
- Kornblum, Cornelia;
- Claeys, Kristl;
- Klopstock, Thomas
Publication type:
Article
Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations.
Published in:
Journal of Neurology, 2015, v. 262, n. 8, p. 1961, doi. 10.1007/s00415-015-7791-7
By:
- Lindig, Tobias;
- Bender, Benjamin;
- Hauser, Till-Karsten;
- Mang, Sarah;
- Schweikardt, Daniel;
- Klose, Uwe;
- Karle, Kathrin N.;
- Schüle, Rebecca;
- Schöls, Ludger;
- Rattay, Tim W.
Publication type:
Article
Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).
Published in:
Journal of Neurology, 2014, v. 261, n. 12, p. 2351, doi. 10.1007/s00415-014-7509-2
By:
- Bender, Benjamin;
- Klose, Uwe;
- Lindig, Tobias;
- Biskup, Saskia;
- Nägele, Thomas;
- Schöls, Ludger;
- Karle, Kathrin
Publication type:
Article
Clozapine serum concentrations in dopamimetic psychosis in Parkinson's disease and related disorders.
Published in:
European Journal of Clinical Pharmacology, 2014, v. 70, n. 12, p. 1471, doi. 10.1007/s00228-014-1772-0
By:
- Lutz, Ulrich;
- Sirfy, Ahmad;
- Wiatr, Gerlinde;
- Altpaß, Danuta;
- Farger, Gisbert;
- Gasser, Thomas;
- Karle, Kathrin;
- Batra, Anil
Publication type:
Article
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia.
Published in:
Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 379, doi. 10.1002/mgg3.87
By:
- Schlipf, Nina A.;
- Schüle, Rebecca;
- Klimpe, Sven;
- Karle, Kathrin N.;
- Synofzik, Matthis;
- Wolf, Julia;
- Riess, Olaf;
- Schöls, Ludger;
- Bauer, Peter
Publication type:
Article
A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System.
Published in:
PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003988
By:
- 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.
Publication type:
Article
Spastic Paraplegia Mutation N256S in the Neuronal Microtubule Motor KIF5A Disrupts Axonal Transport in a Drosophila HSP Model.
Published in:
PLoS Genetics, 2012, v. 8, n. 11, p. 1, doi. 10.1371/journal.pgen.1003066
By:
- 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.
Publication type:
Article
Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy.
Published in:
Human Molecular Genetics, 2006, v. 15, n. 3, p. 511, doi. 10.1093/hmg/ddi467
By:
- Jablonka, Sibylle;
- Karle, Kathrin;
- Sandner, Beatrice;
- Andreassi, Catia;
- von Au, Katja;
- Sendtner, Michael
Publication type:
Article
Axonal transport deficit in a KIF5A mouse model.
Published in:
Neurogenetics, 2012, v. 13, n. 2, p. 169, doi. 10.1007/s10048-012-0324-y
By:
- Karle, Kathrin;
- Möckel, Diana;
- Reid, Evan;
- Schöls, Ludger
Publication type:
Article
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
Published in:
Neurogenetics, 2009, v. 10, n. 2, p. 97, doi. 10.1007/s10048-008-0158-9
By:
- Schüle, Rebecca;
- Brandt, Elisabeth;
- Karle, Kathrin;
- Tsaousidou, Maria;
- Klebe, Stephan;
- Klimpe, Sven;
- Auer-Grumbach, Michaela;
- Crosby, Andrew;
- Hübner, Christian;
- Schöls, Ludger;
- Deufel, Thomas;
- Beetz, Christian
Publication type:
Article
Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.
Published in:
Neurogenetics, 2009, v. 10, n. 1, p. 43, doi. 10.1007/s10048-008-0144-2
By:
- Bauer, Peter;
- Winner, Beate;
- Schüle, Rebecca;
- Bauer, Claudia;
- Häfele, Veronika;
- Hehr, Ute;
- Bonin, Michael;
- Walter, Michael;
- Karle, Kathrin;
- Ringer, Thomas;
- Rieß, Olaf;
- Winkler, Jürgen;
- Schöls, Ludger
Publication type:
Article

Found: 23