Autor Denecke, Jonas
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2015 | Zeitschriftenartikel |
Phenotypic and molecular insights into CASK-related disorders in males
Moog, U.; Bierhals, T.; Brand, K.; Bautsch, J.; Biskup, S.; Brune, T. & Denecke, J. u.a. (2015)
Orphanet Journal of Rare Diseases, 10 art. 44. DOI: https://doi.org/10.1186/s13023-015-0256-3
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2018 | Zeitschriftenartikel
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
Johannsen, J.; Kortüm, F.; Rosenberger, G.; Bokelmann, K.; Schirmer, M. A. ; Denecke, J. & Santer, R. (2018)
neurogenetics, 19(3) pp. 151-156. DOI: https://doi.org/10.1007/s10048-018-0549-5
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2019 | Zeitschriftenartikel |
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease
Stumpf, S. K.; Berghoff, S. A.; Trevisiol, A. ; Spieth, L.; Düking, T.; Schneider, L. V. & Schlaphoff, L. u.a. (2019)
Acta Neuropathologica, 138(1) pp. 147-161. DOI: https://doi.org/10.1007/s00401-019-01985-2
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2019 | Zeitschriftenartikel | Erratum |
Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease
Stumpf, S. K.; Berghoff, S. A.; Trevisiol, A.; Spieth, L.; Düking, T.; Schneider, L. V. & Schlaphoff, L. u.a. (2019)
Acta Neuropathologica, 138(4) pp. 673-674. DOI: https://doi.org/10.1007/s00401-019-02064-2
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2020 | Zeitschriftenartikel | Research Paper |
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Drivas, T. G.; Li, D.; Nair, D.; Alaimo, J. T.; Alders, M.; Altmüller, J. & Barakat, T. S. u.a. (2020)
European Journal of Human Genetics, 28(10) pp. 1422-1431. DOI: https://doi.org/10.1038/s41431-020-0654-4
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2023 | Zeitschriftenartikel
Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis
Nikolaus, M.; Rausch, P.; Rostásy, K.; Bertolini, A.; Wickström, R.; Johannsen, J. & Denecke, J. u.a. (2023)
Neurology: Neuroimmunology & Neuroinflammation, 10(3) art. e200102. DOI: https://doi.org/10.1212/NXI.0000000000200102
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