Associated Papers
Heterozygous females from a rat model for creatine transporter deficiency reveal altered behavioral response to stressors, normal body weight and slight metabolic changes.
Duran-Trio L et al.
Frontiers in Neuroscience, 2025
Rescue of myocytes and locomotion through AAV2/9-2YF intracisternal gene therapy in a rat model of creatine transporter deficiency.
Fernandes-Pires G et al.
Molecular Therapy. Methods & Clinical Development, 2024
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Lyons EL et al.
Bmc Genomics, 2023
37587458 (PubMed )
Supplement: 12864_2023_9561_MOESM1_ESM.xlsx › CuratedVariants
Creatine transporter-deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy.
Duran-Trio L et al.
Journal of Inherited Metabolic Disease, 2022
The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development.
Ghirardini E et al.
Genes, 2021
A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism.
Duran-Trio L et al.
Scientific Reports, 2021
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