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The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, Cejudo L, Chong JX, De Luca C, Dean SJ, Egense A, Goel H, Guenzel AJ, Hüffmeier U, Legius E, Mancini GMS, Marcos-Alcalde I, Niclass T, Planes M, Redon S, Ros-Pardo D, Rouault K, Schot R, Schuhmann S, Shen JJ, Tao AM, Thiffault I, Van Esch H, Wentzensen IM, Barakat TS, Møller RS, Gomez-Puertas P, Chung WK, Gardella E, Tümer Z. Furia F, et al. Clin Genet. 2024 Nov;106(5):574-584. doi: 10.1111/cge.14587. Epub 2024 Jul 11. Clin Genet. 2024. PMID: 38988293
Selective modulation of epileptic tissue by an adenosine A3 receptor-activating drug.
Ghosh A, Ribeiro-Rodrigues L, Ruffolo G, Alfano V, Domingos C, Rei N, Tosh DK, Rombo DM, Morais TP, Valente CA, Xapelli S, Bordadágua B, Rainha-Campos A, Bentes C, Aronica E, Diógenes MJ, Vaz SH, Ribeiro JA, Palma E, Jacobson KA, Sebastião AM. Ghosh A, et al. Br J Pharmacol. 2024 Dec;181(24):5041-5061. doi: 10.1111/bph.17319. Epub 2024 Sep 19. Br J Pharmacol. 2024. PMID: 39300608