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Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Morgan AT, Scerri TS, Vogel AP, Reid CA, Quach M, Jackson VE, McKenzie C, Burrows EL, Bennett MF, Turner SJ, Reilly S, Horton SE, Block S, Kefalianos E, Frigerio-Domingues C, Sainz E, Rigbye KA, Featherby TJ, Richards KL, Kueh A, Herold MJ, Corbett MA, Gecz J, Helbig I, Thompson-Lake DGY, Liégeois FJ, Morell RJ, Hung A, Drayna D, Scheffer IE, Wright DK, Bahlo M, Hildebrand MS. Morgan AT, et al. Among authors: richards kl. Brain. 2023 Dec 1;146(12):5086-5097. doi: 10.1093/brain/awad314. Brain. 2023. PMID: 37977818
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.
Pederick DT, Richards KL, Piltz SG, Kumar R, Mincheva-Tasheva S, Mandelstam SA, Dale RC, Scheffer IE, Gecz J, Petrou S, Hughes JN, Thomas PQ. Pederick DT, et al. Among authors: richards kl. Neuron. 2018 Jan 3;97(1):59-66.e5. doi: 10.1016/j.neuron.2017.12.005. Neuron. 2018. PMID: 29301106 Free article.
182 results