Alexandra Dürr

The paper reports a novel neurodevelopmental disorder caused by a frameshift mutation in ATG9B, and characterizes its effects using cell models and knock-in mice.

This study identifies digenic inheritance of SPG7 and AFG3L2 mutations as a cause of motor neuron and cerebellar disorders in 17 patients.

The paper screens patients with parkinsonism for RFC1 gene expansions and finds that Parkinson's disease and multiple system atrophy can be gateways to RFC1-related disorders.

This study uses MRI volumetrics to analyze cerebellar and brainstem degeneration in SCA3, finding consistent atrophy patterns and reduced cerebrocerebellar covariance.

This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.

This study uses MRI volumetrics to characterize brain atrophy patterns in SCA2, finding progressive degeneration starting in cerebellar white matter and spreading to other brain regions.

This study uses whole-genome sequencing to identify new genetic loci and structural variants associated with progressive supranuclear palsy, including novel signals in APOE and H1/H2 haplotype region variants.

This study shows that reducing ganglioside synthesis delays motor and cognitive symptoms in Spg11 knockout mice and reduces axonal spheroids.

This study identifies a new susceptibility locus, PLA2G4C, for Multiple System Atrophy through a genome-wide association study and functional analysis of a risk variant.

This paper introduces X-ray phase contrast imaging for high-resolution, high-contrast analysis of human fetal tissues, demonstrating its potential for studying development and malformations.

The paper evaluates graph thresholding and streamline filtering methods for structural connectome construction in Huntington's disease, finding that SIFT2 filtering improves group difference detection and clinical correlations.

This study compares functional connectome construction strategies in neurodegeneration, finding that principal component-based correction and weighted unthresholded networks best discriminate HD gene carriers from controls.