SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis
Park, Julien H, Elpers, Christiane, Reunert, Janine, McCormick, Michael L, Mohr, Julia, Biskup, Saskia, Schwartz, Oliver, Rust, Stephan, Grüneberg, Marianne, Seelhöfer, Anja, Schara, Ulrike, Boltshauser, Eugen, Spitz, Douglas R, Marquardt, Thorsten
Published in Brain (London, England : 1878) (01.08.2019)
Published in Brain (London, England : 1878) (01.08.2019)
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CD8(+) T-cell pathogenicity in Rasmussen encephalitis elucidated by large-scale T-cell receptor sequencing
Schneider-Hohendorf, Tilman, Mohan, Hema, Bien, Christian G, Breuer, Johanna, Becker, Albert, Görlich, Dennis, Kuhlmann, Tanja, Widman, Guido, Herich, Sebastian, Elpers, Christiane, Melzer, Nico, Dornmair, Klaus, Kurlemann, Gerhard, Wiendl, Heinz, Schwab, Nicholas
Published in Nature communications (04.04.2016)
Published in Nature communications (04.04.2016)
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Ketone body therapy with D/L-β-hydroxybutyric acid solution in severe MADD
Fischer, Tobias, Elpers, Christiane, Och, Ulrike, Fobker, Manfred, Marquardt, Thorsten
Published in Molecular genetics and metabolism reports (01.09.2019)
Published in Molecular genetics and metabolism reports (01.09.2019)
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Journal Article
Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case Report
Belkheir, Aziza Miriam, Reunert, Janine, Elpers, Christiane, van den Heuvel, Lambert, Rodenburg, Richard, Seelhöfer, Anja, Rust, Stephan, Jeibmann, Astrid, Frosch, Michael, Marquardt, Thorsten
Published in Frontiers in neurology (27.04.2021)
Published in Frontiers in neurology (27.04.2021)
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Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi–Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1)
Fuchs, Nina V., Schieck, Maximilian, Neuenkirch, Michaela, Tondera, Christiane, Schmitz, Heike, Wendeburg, Lena, Steinemann, Doris, Elpers, Christiane, Rutsch, Frank, König, Renate
Published in Stem cell research (01.03.2020)
Published in Stem cell research (01.03.2020)
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Journal Article
Interval Timing in Pediatric Multiple Sclerosis: Impaired in the Subsecond Range but Unimpaired in the One-Second Range
Troche, Stefan J., Kapanci, Tugba, Rammsayer, Thomas H., Kesseler, Carl P. A., Häusler, Martin Georg, Geis, Tobias, Schimmel, Mareike, Elpers, Christiane, Kreth, Jonas H., Thiels, Charlotte, Rostásy, Kevin
Published in Frontiers in neurology (20.10.2020)
Published in Frontiers in neurology (20.10.2020)
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Journal Article
Evaluating the relationship between psychometric intelligence and cognitive functions in paediatric multiple sclerosis
Kapanci, Tugba, Rostásy, Kevin, Häusler, Martin Georg, Geis, Tobias, Schimmel, Mareike, Elpers, Christiane, Kreth, Jonas H., Thiels, Charlotte, Troche, Stefan J
Published in Multiple sclerosis journal - experimental, translational and clinical (01.10.2019)
Published in Multiple sclerosis journal - experimental, translational and clinical (01.10.2019)
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Journal Article
Reply: Not every excessive startle is hyperekplexia, the curious case of SOD1
Park, Julien H, Elpers, Christiane, Marquardt, Thorsten
Published in Brain (London, England : 1878) (01.02.2020)
Published in Brain (London, England : 1878) (01.02.2020)
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Journal Article
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1
Park, Julien H, Nordström, Ulrika, Tsiakas, Konstantinos, Keskin, Isil, Elpers, Christiane, Mannil, Manoj, Heller, Raoul, Nolan, Melinda, Alburaiky, Salam, Zetterström, Per, Hempel, Maja, Schara-Schmidt, Ulrike, Biskup, Saskia, Steinacker, Petra, Otto, Markus, Weishaupt, Jochen, Hahn, Andreas, Santer, René, Marquardt, Thorsten, Marklund, Stefan L, Andersen, Peter M
Published in Brain communications (2023)
Published in Brain communications (2023)
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Journal Article
Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case Report
Belkheir, Aziza Miriam, Reunert, Janine, Elpers, Christiane, van den Heuvel, Lambert, Rodenburg, Richard, Seelhöfer, Anja, Rust, Stephan, Jeibmann, Astrid, Frosch, Michael, Marquardt, Thorsten
Published in Frontiers in neurology (01.01.2021)
Published in Frontiers in neurology (01.01.2021)
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