Clinical and genetic characterization of an Italian family with slow-channel syndrome
Author:
Funder
Fondazione Telethon
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s10072-018-3645-2.pdf
Reference16 articles.
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3. Engel AG, Lambert EH, Mulder DM, Torres CF, Sahashi K, Bertorini TE, Whitaker JN (1982) A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. Ann Neurol 11:553–569. https://doi.org/10.1002/ana.410110603
4. Croxen R, Hatton C, Shelley C, Brydson M, Chauplannaz G, Oosterhuis H, Vincent A, Newsom-Davis J, Colquhoun D, Beeson D (2002) Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. Neurology 59:162–168. https://doi.org/10.1212/WNL.59.2.162
5. Ghim J, Chelakkot C, Bae Y-S, Ryu SH (2016) Accumulating insights into the role of phospholipase D2 in human diseases. Adv Biol Regul 61:42–46. https://doi.org/10.1016/J.JBIOR.2015.11.010
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