Associated Papers
Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM).
Ratz-Mitchem ML et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J et al.
Annals of Clinical and Translational Neurology, 2023
Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.
Mohamed FE et al.
Frontiers in Pediatrics, 2023
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
A structural view onto disease-linked mutations in the human neutral amino acid exchanger ASCT1.
Stehantsev P et al.
Computational and Structural Biotechnology Journal, 2021
A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder.
Abdelrahman HA et al.
Child Neurology Open, 2019
SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
Heimer G et al.
Clinical Genetics, 2015
The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.
Fonseca AC et al.
Molecular Cytogenetics, 2015
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