“AAV strategy to treat creatine transporter deficiency in the Slc6a8Y389C KI rat”
“The effect of creatine deficiency on muscles and heart in AGAT and GAMT mice”
“Slc6a8xY389C/y KI rat males exhibit motor dysfunction linked with muscle Cr deficiency without muscle atrophy and morphological alterations in cerebellum”
“Tackling Creatine Transporter Deficiency: new insight into cell-specific vulnerability and development of a gene therapy approach”
“The importance creatine transporter for maintaining the brain energetics and stress-adaptation homeostasis”
“Effect of Creatine Supplementation on AGAT Expression and Metabolic Intermediates in GAMT-Deficient mice”
“Efficacy judgment criteria for clinical trial in Creatine Transporter Deficiency”
“Core outcome sets: engaging patients and families in consensus methods to identify the outcomes that matter most”
“Cardiac abnormalities in patients and animal models of creatine transporter deficiency”
“GATM and GAMT synthesize creatine locally throughout the mammalian body and within oligodendrocytes of the brain”
“Examining executive function in creatine transporter knockout mice”
“Control of GAA and Restoration of Creatine Levels with Gene Therapy for Guanidinoacetate Methyltransferase Deficiency”
“AAV-mediated gene therapy for neurological disorders”
“Non-Invasive Nose-to-Bain Delivery of CBT101 Highlights a Widespread Brain Creatine Content in Non Human-Primates”
“Small molecules for the treatment of GAMT deficiency”
“Identifying the mechanism by which creatine represses expression of AGAT”
“Unlocking Solute Carriers Transporters: an impact on the scientific community”
“A novel corrector for variants of SLC6A8: a therapeutic opportunity for Creatine Transporter Deficiency”
“Towards the Discovery of Small Molecules that Restore Function to Defective SLC6A8 Creatine Transporter Variants”
“Towards the Discovery of Small Molecules that Restore Function to Defective SLC6A8 Creatine Transporter Variants”
“Cerebral Creatine Deficiency Syndromes: Screening, Diagnosis, Monitoring. What have we learned?”
“Treatment experience in two adults with creatine transporter deficiency”
“Vigilan Observational Study of CTD – Study Progress and Updates”
“Creatine Transporter Deficiency Caregiver Perspectives and the Path to Diagnosis”