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Hereditary motor neuropathies.
Dohrn MF, Saporta M. Dohrn MF, et al. Curr Opin Neurol. 2020 Oct;33(5):568-574. doi: 10.1097/WCO.0000000000000848. Curr Opin Neurol. 2020. PMID: 32796276 Review.
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.
Cintra VP, Dohrn MF, Tomaselli PJ, Figueiredo FB, Marques SE, Camargos ST, Barbosa LSM, P Rebelo A, Abreu L, Danzi M, Marques W Jr, Züchner S. Cintra VP, et al. Among authors: dohrn mf. J Neurol Sci. 2021 Aug 15;427:117498. doi: 10.1016/j.jns.2021.117498. Epub 2021 May 18. J Neurol Sci. 2021. PMID: 34090020 Free PMC article.
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome.
Dohrn MF, Rebelo AP, Srivastava S, Cappuccio G, Smigiel R, Malhotra A, Basel D, van de Laar I, Neuteboom RF, Aarts-Tesselaar C, Mahida S, Brunetti-Pierri N, Taft RJ, Züchner S. Dohrn MF, et al. Neurology. 2022 Mar 15;98(11):440-445. doi: 10.1212/WNL.0000000000013276. Epub 2022 Feb 2. Neurology. 2022. PMID: 35110381 Free PMC article.
Genetic pain loss disorders.
Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I. Lischka A, et al. Among authors: dohrn mf. Nat Rev Dis Primers. 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. Nat Rev Dis Primers. 2022. PMID: 35710757 Review.
45 results