Albena Jordanova

Loss-of-function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

The paper investigates whether CPT1C loss-of-function variants cause hereditary spastic paraplegia (HSP) by analyzing genomic data from multiple cohorts and finds no causal association.

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

This study identifies biallelic COX18 variants as a cause of autosomal recessive axonal CMT with peripheral neuropathy and potential central nervous system involvement.

Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing

The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.

Structural clustering and functional profiling of NMAN-causing variants in HINT1 suggest personalized therapeutic strategies

The paper systematically evaluates HINT1 variants causing NMAN using structural and functional analyses to classify their pathogenicity and guide personalized therapies.