Author Biskup, Saskia

• 2015 | Journal Article | 
  ​ ​Phenotypic and molecular insights into CASK-related disorders in males​
  Moog, U.; Bierhals, T.; Brand, K.; Bautsch, J.; Biskup, S.; Brune, T. & Denecke, J. et al.​ (2015) 
  Orphanet Journal of Rare Diseases, 10 art. 44​.​ DOI: https://doi.org/10.1186/s13023-015-0256-3 
  ​Details  DOI  PMID  PMC  WoS 

• 2015 | Journal Article | Research Paper
  ​ ​From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1​
  Kettwig, M.; Schubach, M.; Zimmermann, F. A.; Klinge, L. ; Mayr, J. A.; Biskup, S. & Sperl, W. et al.​ (2015) 
  Mitochondrion, 21 pp. 12​-18​.​ DOI: https://doi.org/10.1016/j.mito.2015.01.001 
  ​Details  DOI  PMID  PMC  WoS 

• 2016 | Journal Article
  ​ ​TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features​
  Balestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M. J.; Verstreken, P. & Cardon, A. et al.​ (2016) 
  Neurology, 87(1) pp. 77​-85​.​ DOI: https://doi.org/10.1212/WNL.0000000000002807 
  ​Details  DOI  PMID  PMC  WoS 

• 2018 | Journal Article
  ​ ​Neurologic phenotypes associated with COL4A1 / 2 mutations​
  Zagaglia, S.; Selch, C.; Nisevic, J. R.; Mei, D.; Michalak, Z.; Hernandez-Hernandez, L. & Krithika, S. et al.​ (2018) 
  Neurology, 91(22) pp. e2078​-e2088​.​ DOI: https://doi.org/10.1212/WNL.0000000000006567 
  ​Details  DOI 

• 2019 | Journal Article | 
  ​ ​PEDIA: prioritization of exome data by image analysis​
  Hsieh, T.-C.; Mensah, M. A; Pantel, J. T; Aguilar, D.; Bar, O.; Bayat, A. & Becerra-Solano, L. et al.​ (2019) 
  Genetics in Medicine, 21(12) pp. 2807​-2814​.​ DOI: https://doi.org/10.1038/s41436-019-0566-2 
  ​Details  DOI  PMID  PMC 

• 2020 | Journal Article | 
  ​ ​Differential diagnosis of vacuolar myopathies in the NGS era​
  Mair, D.; Biskup, S.; Kress, W.; Abicht, A.; Brück, W. ; Zechel, S. & Knop, K. C. et al.​ (2020) 
  Brain Pathology, 30(5) pp. 877​-896​.​ DOI: https://doi.org/10.1111/bpa.12864 
  ​Details  DOI 

• 2020 | Journal Article | 
  ​ ​Case Report: Association of a Variant of Unknown Significance in the FIG4 Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Common Challenges in Clinical and Genetic Diagnostics of Rare Neuropsychiatric and Neurologic Disorders​
  Bergner, C. G.; Neuhofer, C. M.; Funke, C.; Biskup, S.; von Gottberg, P.; Bartels, C.   & Koch, J. C.  et al.​ (2020) 
  Frontiers in Neuroscience, 14.​ DOI: https://doi.org/10.3389/fnins.2020.559670 
  ​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 

• 2021 | Journal Article | Research Paper | 
  ​ ​A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns​
  Heide, E.; Puk, O.; Biskup, S.; Krahn, A.; Rauf, E.; Kreilkamp, B. A. K. & Paulus, W. et al.​ (2021) 
  American Journal of Medical Genetics Part A, 185(12) art. ajmg.a.62427​.​ DOI: https://doi.org/10.1002/ajmg.a.62427 
  ​Details  DOI 

• 2021 | Journal Article | 
  ​ ​Novel Mutation in the TSFM Gene Causes an Early‐Onset Complex Chorea without Basal Ganglia Lesions​
  van Riesen, A. K.; Biskup, S.; Kühn, A. A.; Kaindl, A. M. & van Riesen, C.​ (2021) 
  Movement Disorders Clinical Practice, 8(3) pp. 453​-455​.​ DOI: https://doi.org/10.1002/mdc3.13144 
  ​Details  DOI 

• 2022 | Journal Article
  ​ ​Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study​
  Tropitzsch, A.; Schade-Mann, T.; Gamerdinger, P.; Dofek, S.; Schulte, B.; Schulze, M. & Battke, F. et al.​ (2022) 
  Ear & Hearing, 43(3) pp. 1049​-1066​.​ DOI: https://doi.org/10.1097/AUD.0000000000001159 
  ​Details  DOI 

• 2022 | Journal Article | Research Paper | 
  ​ ​WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly​
  Bögershausen, N.; Krawczyk, H. E.; Jamra, R. A.; Lin, S.; Yigit, G. ; Hüning, I. & Polo, A. M. et al.​ (2022) 
  Human Mutation, 43(10) pp. 1454​-1471​.​ DOI: https://doi.org/10.1002/humu.24430 
  ​Details  DOI  PMID  PMC 

• 2022 | Journal Article | 
  ​ ​Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​
  Schmidt, J. ; Dreha-Kulaczewski, S. ; Zafeiriou, M. P. ; Schreiber, M.-K.; Wilken, B.; Funke, R. & Neuhofer, C. M. et al.​ (2022) 
  Frontiers in Cell and Developmental Biology, 10.​ DOI: https://doi.org/10.3389/fcell.2022.1025332 
  ​Details  DOI  PMID  PMC 

• 2023 | Journal Article | 
  ​ ​Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family​
  Maass, F.; Jamous, A.; Biskup, S.; Eisenberg, H.; D'Hedouville, Z.; Bähr, M. & van Riesen, C.​ (2023) 
  Movement Disorders Clinical Practice, 10(6) art. mdc3.13717​.​ DOI: https://doi.org/10.1002/mdc3.13717 
  ​Details  DOI 

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