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Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Herkert JC, Verhagen JMA, Yotti R, Haghighi A, Phelan DG, James PA, Brown NJ, Stutterd C, Macciocca I, Leong K, Bulthuis MLC, van Bever Y, van Slegtenhorst MA, Boven LG, Roberts AE, Agarwal R, Seidman J, Lakdawala NK, Fernández-Avilés F, Burke MA, Pierpont ME, Braunlin E, Ḉağlayan AO, Barge-Schaapveld DQCM, Birnie E, van Osch-Gevers L, van Langen IM, Jongbloed JDH, Lockhart PJ, Amor DJ, Seidman CE, van de Laar IMBH. Herkert JC, et al. Among authors: burke ma. Am Heart J. 2020 Jul;225:108-119. doi: 10.1016/j.ahj.2020.03.023. Epub 2020 Apr 21. Am Heart J. 2020. PMID: 32480058 Free article.
Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.
Adalsteinsdottir B, Palsson R, Desnick RJ, Gardarsdottir M, Teekakirikul P, Maron M, Appelbaum E, Neisius U, Maron BJ, Burke MA, Chen B, Pagant S, Madsen CV, Danielsen R, Arngrimsson R, Feldt-Rasmussen U, Seidman JG, Seidman CE, Gunnarsson GT. Adalsteinsdottir B, et al. Among authors: burke ma. Circ Cardiovasc Genet. 2017 Aug;10(4):e001639. doi: 10.1161/CIRCGENETICS.116.001639. Circ Cardiovasc Genet. 2017. PMID: 28798024
Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation.
Adalsteinsdottir B, Teekakirikul P, Maron BJ, Burke MA, Gudbjartsson DF, Holm H, Stefansson K, DePalma SR, Mazaika E, McDonough B, Danielsen R, Seidman JG, Seidman CE, Gunnarsson GT. Adalsteinsdottir B, et al. Among authors: burke ma. Circulation. 2014 Sep 30;130(14):1158-67. doi: 10.1161/CIRCULATIONAHA.114.011207. Epub 2014 Jul 30. Circulation. 2014. PMID: 25078086
Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis.
Hinson JT, Chopra A, Lowe A, Sheng CC, Gupta RM, Kuppusamy R, O'Sullivan J, Rowe G, Wakimoto H, Gorham J, Burke MA, Zhang K, Musunuru K, Gerszten RE, Wu SM, Chen CS, Seidman JG, Seidman CE. Hinson JT, et al. Among authors: burke ma. Cell Rep. 2016 Dec 20;17(12):3292-3304. doi: 10.1016/j.celrep.2016.11.066. Cell Rep. 2016. PMID: 28009297 Free PMC article.
Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis.
Hinson JT, Chopra A, Lowe A, Sheng CC, Gupta RM, Kuppusamy R, O'Sullivan J, Rowe G, Wakimoto H, Gorham J, Burke MA, Zhang K, Musunuru K, Gerszten RE, Wu SM, Chen CS, Seidman JG, Seidman CE. Hinson JT, et al. Among authors: burke ma. Cell Rep. 2017 Jun 13;19(11):2410. doi: 10.1016/j.celrep.2017.05.038. Cell Rep. 2017. PMID: 28614725 Free article. No abstract available.
89 results