Susann Badmann
Munich, BY, Germany
Last Updated: 09/26/2026
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Found 11 publications
Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.
Journal: Clinical genetics
Published: July 08, 2026
Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.
Journal: Human mutation
Published: April 21, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.
Journal: Annals of neurology
Published: September 24, 2025
Rediscovery of the Tubulin β-4A p.Arg2Gly Variant in Whispering Dysphonia: A Report from Austria.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 24, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Journal: Brain : a journal of neurology
Published: February 21, 2025
Adult-Onset Parkinsonism as Late Manifestation of HIVEP2-Associated Developmental Disorder.
Journal: Movement disorders clinical practice
Published: December 31, 2023
PLA2G7/PAF-AH as Potential Negative Regulator of the Wnt Signaling Pathway Mediates Protective Effects in BRCA1 Mutant Breast Cancer.
Journal: International journal of molecular sciences
Published: October 16, 2022
AKR1C1/2 inhibition by MPA sensitizes platinum resistant ovarian cancer towards carboplatin.
Journal: Scientific reports
Published: June 14, 2021
Platelet-Activating Factor Acetylhydrolase Expression in BRCA1 Mutant Ovarian Cancer as a Protective Factor and Potential Negative Regulator of the Wnt Signaling Pathway.
Journal: Biomedicines
Published: May 08, 2021
Nuclear Enolase-1/ MBP-1 expression and its association with the Wnt signaling in epithelial ovarian cancer.
Journal: Translational oncology
Published: August 20, 2020
Showing 1-11 of 11
Last Updated: 09/26/2026