Author Schröder, Simone

1 to 8 of 8 Items
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI  PMID  PMC 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI  PMID  PMC 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI  PMID  PMC 

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