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ACVR1-activating mutation causes neuropathic pain and sensory neuron hyperexcitability in humans.
Yu X, Ton AN, Niu Z, Morales BM, Chen J, Braz J, Lai MH, Barruet E, Liu H, Cheung K, Ali S, Chan T, Bigay K, Ho J, Nikolli I, Hansberry S, Wentworth K, Kriegstein A, Basbaum A, Hsiao EC. Yu X, et al. Among authors: wentworth k. Pain. 2023 Jan 1;164(1):43-58. doi: 10.1097/j.pain.0000000000002656. Epub 2022 Apr 20. Pain. 2023. PMID: 35442931 Free PMC article.
Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva.
Kou S, De Cunto C, Baujat G, Wentworth KL, Grogan DR, Brown MA, Di Rocco M, Keen R, Al Mukaddam M, le Quan Sang KH, Masharani U, Kaplan FS, Pignolo RJ, Hsiao EC. Kou S, et al. Orphanet J Rare Dis. 2020 Jul 29;15(1):193. doi: 10.1186/s13023-020-01465-x. Orphanet J Rare Dis. 2020. PMID: 32727600 Free PMC article.
Social and Clinical Impact of COVID-19 on Patients with Fibrodysplasia Ossificans Progressiva.
Kou S, Kile S, Kambampati SS, Brady EC, Wallace H, De Sousa CM, Cheung K, Dickey L, Wentworth KL, Hsiao E. Kou S, et al. Among authors: wentworth kl. Res Sq [Preprint]. 2021 Sep 16:rs.3.rs-885603. doi: 10.21203/rs.3.rs-885603/v1. Res Sq. 2021. Update in: Orphanet J Rare Dis. 2022 Mar 4;17(1):107. doi: 10.1186/s13023-022-02246-4. PMID: 34545360 Free PMC article. Updated. Preprint.
38 results