Associated Papers
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
Vlckova M et al.
Molecular Genetics & Genomic Medicine, 2023
36840359 (PubMed )
Supplement: MGG3-11-e2154-s002.xlsx › 1
Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.
Rizvi M et al.
Human Molecular Genetics, 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
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
Modulation of sodium-coupled choline transporter CHT function in health and disease.
Ojiakor OA et al.
Neurochemistry International, 2020
The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome.
Banerjee M et al.
Human Mutation, 2019
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