Ackerman, Michael J.

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Journal Article

Tester, David J.; Medeiros Domingo, Argelia; Will, Melissa L.; Haglund, Carla M.; Ackerman, Michael J. (2012). Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clinic proceedings, 87(6), pp. 524-539. Elsevier 10.1016/j.mayocp.2012.02.017

Hu, Dan; Barajas-Martínez, Hector; Medeiros Domingo, Argelia; Crotti, Lia; Veltmann, Christian; Schimpf, Rainer; Urrutia, Janire; Alday, Aintzane; Casis, Oscar; Pfeiffer, Ryan; Burashnikov, Elena; Caceres, Gabriel; Tester, David J.; Wolpert, Christian; Borggrefe, Martin; Schwartz, Peter; Ackerman, Michael J.; Antzelevitch, Charles (2012). A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents. Heart rhythm, 9(5), pp. 760-769. Elsevier 10.1016/j.hrthm.2011.12.006

Cheng, Jianding; Van Norstrand, David W.; Medeiros Domingo, Argelia; Tester, David J.; Valdivia, Carmen R.; Tan, Bi-Hua; Vatta, Matteo; Makielski, Jonathan C.; Ackerman, Michael J. (2011). LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype. Cardiogenetics, 1(1) PAGEPress

Tester, David J.; Medeiros Domingo, Argelia; Will, Melissa L.; Ackerman, Michael J. (2011). Unexplained drownings and the cardiac channelopathies: a molecular autopsy series. Mayo Clinic proceedings, 86(10), pp. 941-947. Elsevier 10.4065/mcp.2011.0373

Tester, David J.; Tan, Bi-Hua; Medeiros Domingo, Argelia; Song, Chunhua; Makielski, Jonathan C.; Ackerman, Michael J. (2011). Loss-of-function mutations in the KCNJ8-encoded Kir6.1 K(ATP) channel and sudden infant death syndrome. Circulation - cardiovascular genetics, 4(5), pp. 510-515. Lippincott Williams & Wilkins 10.1161/CIRCGENETICS.111.960195

Medeiros Domingo, Argelia; Tan, Bi-Hua; Crotti, Lia; Tester, David J.; Eckhardt, Lee; Cuoretti, Alessandra; Kroboth, Stacie L.; Song, Chunhua; Zhou, Qing; Kopp, Doug; Schwartz, Peter J.; Makielski, Jonathan C; Ackerman, Michael J. (2010). Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart rhythm, 7(10), pp. 1466-1471. Elsevier 10.1016/j.hrthm.2010.06.016

Valdivia, Carmen R.; Medeiros Domingo, Argelia; Ye, Bin; Shen, Win-Kuang; Algiers, Timothy J.; Ackerman, Michael J.; Makielski, Jonathan C. (2010). Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation. Cardiovascular research, 86(3), pp. 392-400. Oxford University Press 10.1093/cvr/cvp417

Tan, Bi-Hua; Pundi, Kavitha N.; Van Norstrand, David W; Valdivia, Carmen R.; Tester, David J.; Medeiros Domingo, Argelia; Makielski, Jonathan C.; Ackerman, Michael J. (2010). Sudden infant death syndrome-associated mutations in the sodium channel beta subunits. Heart rhythm, 7(6), pp. 771-778. Elsevier 10.1016/j.hrthm.2010.01.032

Cheng, Jianding; Van Norstrand, David W.; Medeiros Domingo, Argelia; Valdivia, Carmen; Tan, Bi-hua; Ye, Bin; Kroboth, Stacie; Vatta, Matteo; Tester, David J.; January, Craig T.; Makielski, Jonathan C.; Ackerman, Michael J. (2009). Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current. Circulation. Arrhythmia and electrophysiology, 2(6), pp. 667-676. Lippincott Williams & Wilkins 10.1161/CIRCEP.109.891440

Medeiros Domingo, Argelia; Bhuiyan, Zahurul A.; Tester, David J.; Hofman, Nynke; Bikker, Hennie; van Tintelen, J. Peter; Mannens, Marcel M. A. M.; Wilde, Arthur A. M.; Ackerman, Michael J. (2009). The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. Journal of the American College of Cardiology, 54(22), pp. 2065-2074. Elsevier 10.1016/j.jacc.2009.08.022

Medeiros Domingo, Argelia; Tan, Bi-Hua; Iturralde-Torres, Pedro; Tester, David J.; Tusié-Luna, Teresa; Makielski, Jonathan C.; Ackerman, Michael J. (2009). Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A. Heart rhythm, 6(8), pp. 1170-1175. Elsevier 10.1016/j.hrthm.2009.04.034

Ueda, Kazuo; Valdivia, Carmen; Medeiros Domingo, Argelia; Tester, David J.; Vatta, Matteo; Farrugia, Gianrico; Ackerman, Michael J.; Makielski, Jonathan C. (2008). Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 105(27), pp. 9355-9360. National Academy of Sciences NAS 10.1073/pnas.0801294105

Tan, Bi-Hua; Iturralde-Torres, Pedro; Medeiros Domingo, Argelia; Nava, Santiago; Tester, David J.; Valdivia, Carmen R.; Tusié-Luna, Teresa; Ackerman, Michael J.; Makielski, Jonathan C. (2007). A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia. Cardiovascular research, 76(3), pp. 409-417. Oxford University Press 10.1016/j.cardiores.2007.08.006

Medeiros Domingo, Argelia; Kaku, Toshihiko; Tester, David J; Iturralde-Torres, Pedro; Itty, Ajit; Ye, Bin; Valdivia, Carmen; Ueda, Kazuo; Canizales-Quinteros, Samuel; Tusié-Luna, Maria Teresa; Makielski, Jonathan C.; Ackerman, Michael J. (2007). SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation, 116(2), pp. 134-142. Lippincott Williams & Wilkins 10.1161/CIRCULATIONAHA.106.659086

Medeiros Domingo, Argelia; Iturralde-Torres, Pedro; Ackerman, Michael J. (2007). Clinical and genetic characteristics of long QT syndrome. Revista española de cardiología, 60(7), pp. 739-752. Elsevier

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