Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3’UTR-encoded, aggregation-inducing motif.

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.