Arrhythmia — Genetics of Cardiovascular and Neuromuscular Disease
Citation(s)
Allikian MJ, McNally EM Processing and assembly of the dystrophin glycoprotein complex. Traffic. 2007 Mar;8(3):177-83. doi: 10.1111/j.1600-0854.2006.00519.x. Epub 2007 Jan 26.
Davis DB, Delmonte AJ, Ly CT, McNally EM Myoferlin, a candidate gene and potential modifier of muscular dystrophy. Hum Mol Genet. 2000 Jan 22;9(2):217-26. doi: 10.1093/hmg/9.2.217.
Dellefave L, McNally EM Sarcomere mutations in cardiomyopathy, noncompaction, and the developing heart. Circulation. 2008 Jun 3;117(22):2847-9. doi: 10.1161/CIRCULATIONAHA.108.781518. No abstract available.
Dellefave L, McNally EM The genetics of dilated cardiomyopathy. Curr Opin Cardiol. 2010 May;25(3):198-204. doi: 10.1097/HCO.0b013e328337ba52.
DeWitt MM, MacLeod HM, Soliven B, McNally EM Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. J Am Coll Cardiol. 2006 Oct 3;48(7):1396-8. doi: 10.1016/j.jacc.2006.07.016. Epub 2006 Sep 12.
Heydemann A, Demonbreun A, Hadhazy M, Earley JU, McNally EM Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. Hum Mol Genet. 2007 Feb 15;16(4):355-63. doi: 10.1093/hmg/ddl453. Epub 2006 Dec 12.
Heydemann A, Doherty KR, McNally EM Genetic modifiers of muscular dystrophy: implications for therapy. Biochim Biophys Acta. 2007 Feb;1772(2):216-28. doi: 10.1016/j.bbadis.2006.06.013. Epub 2006 Jul 11.
Heydemann A, McNally EM Consequences of disrupting the dystrophin-sarcoglycan complex in cardiac and skeletal myopathy. Trends Cardiovasc Med. 2007 Feb;17(2):55-9. doi: 10.1016/j.tcm.2006.12.002.
MacLeod HM, Culley MR, Huber JM, McNally EM Lamin A/C truncation in dilated cardiomyopathy with conduction disease. BMC Med Genet. 2003 Jul 10;4:4. doi: 10.1186/1471-2350-4-4.
MacLeod HM, McNally EM A pilot study of a family history risk assessment tool for cardiovascular disease. J Genet Couns. 2008 Oct;17(5):499-507. doi: 10.1007/s10897-008-9174-z. Epub 2008 Sep 13.
McNally EM, Patel AR Cardiac magnetic resonance of left ventricular trabeculation: the new normal. Circ Cardiovasc Imaging. 2011 Mar;4(2):84-6. doi: 10.1161/CIRCIMAGING.110.962472. No abstract available.
McNally EM, Pytel P Muscle diseases: the muscular dystrophies. Annu Rev Pathol. 2007;2:87-109. doi: 10.1146/annurev.pathol.2.010506.091936.
McNally EM, Sparano D Mechanisms and management of the heart in myotonic dystrophy. Heart. 2011 Jul;97(13):1094-100. doi: 10.1136/hrt.2010.214197.
McNally EM, Towbin JA Cardiomyopathy in muscular dystrophy workshop. 28-30 September 2003, Tucson, Arizona. Neuromuscul Disord. 2004 Jul;14(7):442-8. doi: 10.1016/j.nmd.2004.04.003. No abstract available.
McNally EM Beta-myosin heavy chain gene mutations in familial hypertrophic cardiomyopathy: the usual suspect? Circ Res. 2002 Feb 22;90(3):246-7. No abstract available.
McNally EM New approaches in the therapy of cardiomyopathy in muscular dystrophy. Annu Rev Med. 2007;58:75-88. doi: 10.1146/annurev.med.58.011706.144703.
Messina DN, Speer MC, Pericak-Vance MA, McNally EM Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet. 1997 Oct;61(4):909-17. doi: 10.1086/514896.
Posey AD Jr, Demonbreun A, McNally EM Ferlin proteins in myoblast fusion and muscle growth. Curr Top Dev Biol. 2011;96:203-30. doi: 10.1016/B978-0-12-385940-2.00008-5.
Puckelwartz MJ, Depreux FF, McNally EM Gene expression, chromosome position and lamin A/C mutations. Nucleus. 2011 May-Jun;2(3):162-7. doi: 10.4161/nucl.2.3.16003.
Romfh A, McNally EM Cardiac assessment in duchenne and becker muscular dystrophies. Curr Heart Fail Rep. 2010 Dec;7(4):212-8. doi: 10.1007/s11897-010-0028-2.
Swaggart KA, Heydemann A, Palmer AA, McNally EM Distinct genetic regions modify specific muscle groups in muscular dystrophy. Physiol Genomics. 2011 Jan 7;43(1):24-31. doi: 10.1152/physiolgenomics.00172.2010. Epub 2010 Oct 19.
Wheeler MT, Zarnegar S, McNally EM Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. Hum Mol Genet. 2002 Sep 1;11(18):2147-54. doi: 10.1093/hmg/11.18.2147.
Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.
Interventional studies are often prospective and are specifically tailored to evaluate direct impacts of treatment or preventive measures on disease.
Observational studies are often retrospective and are used to assess potential causation in exposure-outcome relationships and therefore influence preventive methods.
Expanded access is a means by which manufacturers make investigational new drugs available, under certain circumstances, to treat a patient(s) with a serious disease or condition who cannot participate in a controlled clinical trial.
Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.
Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.