Summary Background Diabetes mellitus is a common but incompletely characterised manifestation of mitochondrial diseases (MD). Data on risk factors, clinical course, and treatment recommendations are lacking. Methods In this multinational cohort study, we analysed longitudinal data of patients with a genetically confirm...
Luisa Semmler, B. Büchner, C. Kornblum et al.· EBioMedicine· 0 citations
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functi...
L. Hecher, M. Woidy, F. Plein et al.· Epilepsia Open· 0 citations
The interdisciplinary CPS consultation model contributes to identifying hereditary cancer predisposition in pediatric patients and families and provides a scalable foundation for systematic CPS assessment and development of standardized, evidence-based surveillance protocols in pediatric oncology.
N. Dikow, Anna-Katharina Nitschke, S. Hirsch et al.· European Journal of Human Ge...· 0 citations
AGO2 is established as a pivotal regulator of neurodevelopment whose structural integrity is essential for precise miRNA-mediated gene regulation and isomiR generation, and occurrence of gonadal mosaicism is reported and revealed.
Debora Tibbe, Christina Kiel, Olena Ielesicheva et al.· Genome Medicine· 0 citations
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