{"entity": "publication", "iuid": "bea3dcffab5f4c10b1839e0a30581a04", "timestamp": "2026-09-06T11:03:09.300Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/bea3dcffab5f4c10b1839e0a30581a04.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/bea3dcffab5f4c10b1839e0a30581a04"}}, "title": "Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivo", "authors": [{"family": "Wang", "given": "H", "initials": "H"}, {"family": "Salter", "given": "S", "initials": "S"}, {"family": "Refai", "given": "O", "initials": "O"}, {"family": "Hardy", "given": "H", "initials": "H"}, {"family": "Sejersen", "given": "T", "initials": "T"}, {"family": "Wright", "given": "J", "initials": "J"}, {"family": "Zimmerman", "given": "H", "initials": "H"}, {"family": "Weis", "given": "J", "initials": "J"}, {"family": "Schara", "given": "U", "initials": "U"}, {"family": "Russell", "given": "M", "initials": "M"}, {"family": "Abdul-Rahman", "given": "O", "initials": "O"}, {"family": "Chilton", "given": "J", "initials": "J"}, {"family": "Blakely", "given": "R", "initials": "R"}, {"family": "Baple", "given": "E", "initials": "E"}, {"family": "Crosby", "given": "A", "initials": "A"}, {"family": "Cirak", "given": "S", "initials": "S"}], "type": "journal-article", "published": "2017-10-00", "journal": {"title": "Neuromuscular Disorders", "issn": "0960-8966", "volume": "27", "pages": "S220-S221", "issn-l": null}, "abstract": null, "doi": "10.1016/j.nmd.2017.06.454", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-21T11:26:50.637Z", "modified": "2026-08-21T11:26:50.677Z"}