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Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, Kamsteeg EJ, Cooper ST. O'Grady GL, et al. Among authors: pride n. Neurology. 2016 Oct 4;87(14):1442-1448. doi: 10.1212/WNL.0000000000003179. Epub 2016 Sep 2. Neurology. 2016. PMID: 27590285 Free PMC article.
Theory of mind in children with Neurofibromatosis Type 1.
Payne JM, Porter M, Pride NA, North KN. Payne JM, et al. Among authors: pride na. Neuropsychology. 2016 May;30(4):439-48. doi: 10.1037/neu0000262. Epub 2016 Jan 11. Neuropsychology. 2016. PMID: 26752121
230 results