Author Schröder, Simone
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2017 | Journal Article |
FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants
Mitter, D.; Pringsheim, M.; Kaulisch, M.; Plümacher, K. S.; Schröder, S.; Warthemann, R. & Abou Jamra, R. et al. (2017)
Genetics in Medicine, 20(1) pp. 98-108. DOI: https://doi.org/10.1038/gim.2017.75
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2019 | Journal Article
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome
Pauli, S. ; Altmüller, J.; Schröder, S.; Ohlenbusch, A. ; Dreha-Kulaczewski, S. ; Bergmann, C. & Nürnberg, P. et al. (2019)
Journal of Medical Genetics, 56(4) pp. 261-264. DOI: https://doi.org/10.1136/jmedgenet-2018-105470
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2019 | Journal Article |
Structural brain anomalies in patients with FOXG 1 syndrome and in Foxg1+/− mice
Pringsheim, M.; Mitter, D.; Schröder, S.; Warthemann, R.; Plümacher, K.; Kluger, G. & Baethmann, M. et al. (2019)
Annals of Clinical and Translational Neurology, 6(4) pp. 655-668. DOI: https://doi.org/10.1002/acn3.735
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2020 | Journal Article |
Evidence of pathogenicity for the leaky splice variant c. 1066‐6T >G in ATM
Schröder, S.; Wieland, B.; Ohlenbusch, A. ; Yigit, G. ; Altmüller, J.; Boltshauser, E. & Dörk, T. et al. (2020)
American Journal of Medical Genetics Part A, 182(12) pp. 2971-2975. DOI: https://doi.org/10.1002/ajmg.a.61870
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2020 | Journal Article |
Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity
Lazarov, E.; Hillebrand, M.; Schröder, S.; Ternka, K.; Hofhuis, J. ; Ohlenbusch, A. & Barrantes-Freer, A. et al. (2020)
Neurobiology of Disease, 143 pp. 105012. DOI: https://doi.org/10.1016/j.nbd.2020.105012
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2020 | Journal Article | Research Paper |
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
Schröder, S.; Li, Y. ; Yigit, G. ; Altmüller, J.; Bader, I.; Bevot, A. & Biskup, S. et al. (2020)
Genetics in Medicine, 23(2) pp. 341-351. DOI: https://doi.org/10.1038/s41436-020-00979-w
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2023 | Journal Article
Next-generation sequencing and its clinical application in leukoencephalopathies and other pediatric neurological disorders
Gärtner, J. & Schröder, S. (2023)
European Journal of Paediatric Neurology, 45 pp. A2-A3. DOI: https://doi.org/10.1016/j.ejpn.2023.06.012
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2023 | Journal Article |
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
Schröder, S.; Yigit, G.; Li, Y.; Altmüller, J.; Büttel, H.-M.; Fiedler, B. & Kretzschmar, C. et al. (2023)
Orphanet Journal of Rare Diseases, 18(1) art. 101. DOI: https://doi.org/10.1186/s13023-023-02706-5
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