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Rodríguez Cruz PM, Ravenscroft G, Natera D, Carr A, Manzur A, Liu WW, Vella NR, Jericó I, Gonzalez-Quereda L, Gallano P, Montalto SA, Davis MR, Lamont PJ, Laing NG, Bourque P, Nascimento A, Muntoni F, Polavarapu K, Lochmüller H, Palace J, Beeson D. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1. Neuromuscul Disord. 2023 Feb;33(2):161-168. doi: 10.1016/j.nmd.2022.12.011. Epub 2022 Dec 22. PMID: 36634413.

SNdondo AP, Eley B, Wilmshurst JM, Kakooza-Mwesige A, Giannoccaro MP, Willison HJ, Rodriguez Cruz PM, Heckmann JM, Bateman K, Vincent A. Post-Infectious Autoimmunity in the Central (CNS) and Peripheral (PNS) Nervous Systems: An African Perspective. Front Immunol. 2022 Mar 9;13:833548. doi: 10.3389/fimmu.2022.833548. PMID: 35356001; PMCID: PMC8959857.

Spendiff S, Dong Y, Maggi L, Rodríguez Cruz PM, Beeson D, Lochmüller H; ENMC 260th workshop study group. 260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Naarden, The Netherlands. Neuromuscul Disord. 2022 Dec 14:S0960-8966(22)00730-1. doi: 10.1016/j.nmd.2022.12.006. Epub ahead of print. PMID: 36609117.

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