Jutta Gärtner

The paper identifies de novo LDB1 variants linked to distinct neurodevelopmental phenotypes based on variant location and pathomechanisms, confirmed through in vitro and in vivo studies.

This study uses super-resolution microscopy to visualize mitochondrial mRNAs and their interactions with proteins, revealing dynamic changes in mRNA distribution and structure during apoptosis and in disease.

This study identifies dysfunctional microglia in a zebrafish model of RNASET2-deficient leukoencephalopathy as a key contributor to pathological apoptosis and behavioral defects.

The paper identifies a homozygous NMNAT2 mutation causing polyneuropathy and erythromelalgia in two sisters, linking it to axon degeneration and supporting the role of the Wallerian pathway in human disease.