Milen T. Velinov

Efficient delivery of FMR1 across the blood brain barrier using 2 AAVphp construct in adult FMR1 KO mice demonstrates the 3 feasibility of gene therapy for fragile X syndrome

This study demonstrates efficient brain-specific delivery of FMR1 via AAVphp vectors in adult FMR1 KO mice, leading to partial behavioral improvements and increased FMRP levels.

Latent class analysis identifies distinctive behavioral subtypes in children with fragile X syndrome

The paper uses latent class analysis to identify distinct behavioral subtypes in children with fragile X syndrome, revealing clinically meaningful groups with unique cognitive and behavioral profiles.

Autosomal recessive SLC30A9 Mutations in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity

This paper reports a non-consanguineous family with autosomal recessive SLC30A9 mutations associated with a cerebro-renal syndrome and conducts a limited population allele frequency analysis.