Associated Papers
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
Abdennadher M et al.
American Journal of Medical Genetics. Part A, 2024
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".
Rahhal S et al.
Molecular Genetics and Metabolism Reports, 2023
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Lyons EL et al.
Bmc Genomics, 2023
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.
Levin MD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Zacher P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Whole genome sequencing of 45 Japanese patients with intellectual disability.
Abe-Hatano C et al.
American Journal of Medical Genetics. Part A, 2021
Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter.
Salazar MD et al.
Biochemistry, 2020
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome.
El-Kasaby A et al.
Neuropharmacology, 2019
SLC6 Transporter Folding Diseases and Pharmacochaperoning.
Freissmuth M et al.
Handbook of Experimental Pharmacology, 2018
[A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].
Nozaki F et al.
No to Hattatsu = Brain and Development, 2015
Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.
Mercimek-Mahmutoglu S et al.
Molecular Genetics and Metabolism, 2009
A rational free energy-based approach to understanding and targeting disease-causing missense mutations.
Zhang Z et al.
Journal of the American Medical Informatics Association : Jamia, 0