James L. Resnick

The Preclinical Animal Network (PCAN): Integrative high-throughput phenotyping of standardized mouse models for Prader-Willi syndrome

The paper introduces PCAN, a resource integrating high-throughput phenotyping of mouse models for Prader-Willi syndrome to evaluate phenotypes and therapeutic strategies.

A Novel Early Onset Spinocerebellar Ataxia 13 BAC Mouse Model with Cerebellar Hypoplasia, Tremor, and Ataxic Gait

This paper presents a novel BAC mouse model of SCA13 with cerebellar hypoplasia, tremor, and ataxic gait, mimicking human disease features.

Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome 22 and Prader Willi Syndrome

This study identifies shared metabolic pathways between CMS22 and PWS, showing mitochondrial dysfunction and potential therapeutic targets through PREPL.

Prader-Willi locus Snord116 RNA processing requires an active endogenous allele and neuron-specific splicing by Rbfox3/NeuN

This study shows that Snord116 RNA processing requires an active endogenous allele and neuron-specific splicing by Rbfox3/NeuN, and exogenous expression alone cannot rescue the genetic deficiency of Snord116 paternal deletion.