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Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, Narayanan V, Rangasamy S, Huentelman M, Emrick LT, Sato-Shirai I, Kumada S, Wolf NI, Steinbach PJ, Huang Y; Undiagnosed Diseases Network; Pusey BN, Passemard S, Levy J, Drunat S, Vincent M, Guet A, Agolini E, Novelli A, Digilio MC, Rosenfeld JA, Murphy JL, Lupski JR, Vezina G, Macnamara EF, Adams DR, Acosta MT, Tifft CJ, Gahl WA, Malicdan MCV. Frost FG, et al. Among authors: macnamara ef. Am J Hum Genet. 2023 Apr 6;110(4):663-680. doi: 10.1016/j.ajhg.2023.03.001. Epub 2023 Mar 24. Am J Hum Genet. 2023. PMID: 36965478 Free PMC article.
Metabolic effects of theophylline.
Pagniez DC, MacNamara E, Dequiedt P, Tacquet A. Pagniez DC, et al. Ann Intern Med. 1986 Feb;104(2):284. doi: 10.7326/0003-4819-104-2-284_1. Ann Intern Med. 1986. PMID: 3946968 No abstract available.
LANDRY'S PARALYSIS.
Macnamara E, Bernstein J. Macnamara E, et al. Br Med J. 1906 Aug 4;2(2379):248-52. doi: 10.1136/bmj.2.2379.248. Br Med J. 1906. PMID: 20762812 Free PMC article. No abstract available.
131 results