Associated Papers
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
Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis.
Ingram G et al.
Practical Neurology, 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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