Elena Buglo

TL;DR: Non-parametric linkage analysis and genome sequencing are used to identify a biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene as the cause of familial CANVAS and a frequent cause of late-onset ataxia, particularly if sensory neuronopathy and bilateral vestibular areflexia coexist.

TL;DR: Functional studies suggest that SORD deficiency may be treatable with aldose reductase inhibitors and may contribute to a better understanding of the pathophysiology of diabetes.

TL;DR: Zebrafish modeling for two broad groups of inherited conditions that each share genetic and molecular pathways and overlap phenotypically: neurodevelopmental disorders such as Autism Spectrum Disorders, Intellectual Disability and Schizophrenia and neurodegenerative diseases, such as Cerebellar Ataxia and Charcot-Marie Tooth Disease are reviewed.

TL;DR: Using data from seven countries on four continents to define mutations in ATP1A1, which encodes the alpha1 subunit of the Na+,K+-ATPase, as a cause of autosomal-dominant CMT2, identify a CMT pathway and a potential target for therapy development in degenerative diseases of peripheral nerve axons.

TL;DR: A protein-aggregation-triggering mechanism for intracellular toxic protein aggregation induced by an unusual mutation event in families affected by axonal neuropathy is presented and should be taken into consideration during the evaluation of stop-loss variants.