Klinische Neurogenetik
Prof. Dr. Ludger Schöls
Gruppenleiter
c/o Abteilung Neurologie
Hoppe-Seyler-Str. 3
72076 Tübingen

ludger.schoels@dzne.de
 +49 7071 29-80445

Publikationen

Die vollständige Publikationsliste findet man hier.

Schöls L, Rattay TW, Martus P, et al. Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. Brain. 2017 Jan 01; 140:3112-27. doi: 10.1093/brain/awx273
Pelzl L, Hauser S, Elsir B, et al. Lithium Sensitive ORAI1 Expression, Store Operated Ca(2+) Entry and Suicidal Death of Neurons in Chorea-Acanthocytosis. Scientific Reports. 2017 Jan 01; 7:6457. doi: 10.1038/s41598-017-06451-1
Rebecca Schüle, Sarah Wiethoff, Peter Martus, Kathrin N. Karle, Susanne Otto, Stephan Klebe, Sven Klimpe, Constanze Gallenmüller, Delia Kurzwelly, Dorothea Henkel, Florian Rimmele, Henning Stolze, Zacharias Kohl, Jan Kassubek, Thomas Klockgether, Stefan Vielhaber, Christoph Kamm, Thomas Klopstock, Peter Bauer, Stephan Züchner, Inga Liepelt-Scarfone, Ludger Schöls. Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients. Annals of Neurology. 2016 Mar 31; 79:646-658. doi: 10.1002/ana.24611
Matthis Synofzik, Katrien Smets, Martial Mallaret, Daniela Di Bella, Constanze Gallenmüller, Jonathan Baets, Martin Schulze, Stefania Magri, Elisa Sarto, Mona Mustafa, Tine Deconinck, Tobias Haack, Stephan Züchner, Michael Gonzalez, Dagmar Timmann, Claudia Stendel, Thomas Klopstock, Alexandra Durr, Christine Tranchant, Marc Sturm, Wahiba Hamza, Lorenzo Nanetti, Caterina Mariotti, Michel Koenig, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Mathieu Anheim, Franco Taroni, Peter Bauer. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: A large multi-centre study. Brain. 2016 Apr 30; 139:1378-1393. doi: 10.1093/brain/aww079
Anne S. Soehn, Tim W. Rattay, Stefanie Beck-Wödl, Karin Schäferhoff, David Monk, Marion Döbler-Neumann, Konstanze Hörtnagel, Agatha Schlüter, Montserrat Ruiz, Aurora Pujol, Stephan Züchner, Olaf Riess, Rebecca Schüle, Peter Bauer, Ludger Schöls. Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H /SPG35 in 4 families. Neurology. 2016 Jul 11; 87:186-191. doi: 10.1212/WNL.0000000000002843
Stefan Hauser, Melanie Erzler, Yvonne Theurer, Stefanie Schuster, Rebecca Schüle, Ludger Schöls. Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient. Stem Cell Research. 2016 Oct 31; 17:485-488. doi: 10.1016/j.scr.2016.09.022
Tobias Bonifert, Irene Gonzalez Menendez, Florian Battke, Yvonne Theurer, Matthis Synofzik, Ludger Schöls, Bernd Wissinger. Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1. Molecular Therapy - Nucleic Acids. 2015 Dec 31; 5:e390. doi: 10.1038/mtna.2016.93
Schöls L, Reimold M, Seidel K, et al. No parkinsonism in SCA2 and SCA3 despite severe neurodegeneration of the dopaminergic substantia nigra. Brain. 2015 Jan 01; 138:3316-26. doi: 10.1093/brain/awv255
S, Hedrich UB, Riesch E, et al. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature Genetics. 2015 Jan 01; 95:689-97. doi: 10.1016/j.ajhg.2014.10.013
Synofzik M, Haack TB, Kopajtich R, et al. Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. American Journal of Human Genetics. 2014 Jan 01; 95:689-97. doi: 10.1016/j.ajhg.2014.10.013
Martial Mallaret, Matthis Synofzik, Jaeho Lee, Cari A. Sagum, Muhammad Mahajnah, Rajech Sharkia, Nathalie Drouot, Mathilde Renaud, Fabrice A. C. Klein, Mathieu Anheim, Christine Tranchant, Cyril Mignot, Jean-Louis Mandel, Mark Bedford, Peter Bauer, Mustafa A. Salih, Rebecca Schüle, Ludger Schöls, C. Marcelo Aldaz, Michel Koenig. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2013 Dec 31; 137:411-419. doi: 10.1093/brain/awt338
Tobias Bonifert, Kathrin N. Karle, Felix Tonagel, Marion Batra, Christian Wilhelm, Yvonne Theurer, Caroline Schoenfeld, Torsten Kluba, York Kamenisch, Valerio Carelli, Julia Wolf, Michael A. Gonzalez, Fiorella Speziani, Rebecca Schüle, Stephan Züchner, Ludger Schöls, Bernd Wissinger, Matthis Synofzik. Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Brain. 2013 Dec 31; 137:2164-2177. doi: 10.1093/brain/awu165
Karle KN, Biskup S, Schule R, et al. De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Neurology. 2013 Jan 01; 81:2039-44. doi: 10.1212/01.wnl.0000436945.01023.ac
Schule R, Holland-Letz T, Klimpe S, et al. The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology. 2006 Jan 01; 67:430-4. doi: 10.1212/01.wnl.0000228242.53336.90
Klas Wictorin, Björn Brådvik, Karin Nilsson, Maria Soller, Danielle van Westen, Gunnel Bynke, Peter Bauer, Ludger Schöls, Andreas Puschmann. Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?. Parkinsonism and Related Disorders. 2013 Dec 31; 20:748-754. doi: 10.1016/j.parkreldis.2014.03.029

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