Associated Papers
Structural mechanisms of human sodium-coupled high-affinity choline transporter CHT1.
Xue J et al.
Cell Discovery, 2024
39587078 (PubMed )
Supplement: 41421_2024_731_MOESM1_ESM.pdf
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
Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease.
Cannizzaro M et al.
Journal of Applied Genetics, 2019
Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.
Hamanaka K et al.
Clinical Genetics, 2018
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.
Salter CG et al.
Neurology. Genetics, 2018
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Wang H et al.
Brain : a Journal of Neurology, 2017
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S et al.
American Journal of Human Genetics, 2016
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.
Timmerman V et al.
Genes, 2014
24705285 (PubMed )
Supplement: genes-05-00013-s001.pdf
Defective presynaptic choline transport underlies hereditary motor neuropathy.
Barwick KE et al.
American Journal of Human Genetics, 2012
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