Clinical trial NCT00138931 - References

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.
•   de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M
  Mutations in the caveolin-3 gene: When are they pathogenic? Am J Med Genet. 2001 Apr 1;99(4):303-7. doi: 10.1002/1096-8628(2001)9999:99993.0.co;2-o.
•   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.
•   Flanigan KM, Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Gappmaier E, Howard MT, Day JW, McDonald C, McNally EM, Weiss RB; United Dystrophinopathy Project
  LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol. 2013 Apr;73(4):481-8. doi: 10.1002/ana.23819. Epub 2013 Feb 20.
•   Golbus JR, Puckelwartz MJ, Fahrenbach JP, Dellefave-Castillo LM, Wolfgeher D, McNally EM
  Population-based variation in cardiomyopathy genes. Circ Cardiovasc Genet. 2012 Aug 1;5(4):391-9. doi: 10.1161/CIRCGENETICS.112.962928. Epub 2012 Jul 4. Erratum In: Circ Cardiovasc Genet. 2012 Oct 1;5(5):e48.
•   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.
•   Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S, Colan SD, Funke B, Zimmerman RS, Robinson P, Watkins H, Seidman CE, Seidman JG, McNally EM, Ho CY
  Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinct
•   MacLeod H, Pytel P, Wollmann R, Chelmicka-Schorr E, Silver K, Anderson RB, Waggoner D, McNally EM
  A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. Neuromuscul Disord. 2007 Apr;17(4):285-9. doi: 10.1016/
•   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 E, Allikian M, Wheeler MT, Mislow JM, Heydemann A
  Cytoskeletal defects in cardiomyopathy. J Mol Cell Cardiol. 2003 Mar;35(3):231-41. doi: 10.1016/s0022-2828(03)00018-x.
•   McNally EM, Duggan D, Gorospe JR, Bonnemann CG, Fanin M, Pegoraro E, Lidov HG, Noguchi S, Ozawa E, Finkel RS, Cruse RP, Angelini C, Kunkel LM, Hoffman EP
  Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet. 1996 Nov;5(11):1841-7. doi: 10.1093/hmg/5.11.1841.
•   McNally EM, Ly CT, Rosenmann H, Mitrani Rosenbaum S, Jiang W, Anderson LV, Soffer D, Argov Z
  Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am J Med Genet. 2000 Apr 10;91(4):305-12. doi: 10.1002/(sici)1096-8628(20000410)91:43.0.co;2-s.
•   McNally EM, Passos-Bueno MR, Bonnemann CG, Vainzof M, de Sa Moreira E, Lidov HG, Othmane KB, Denton PH, Vance JM, Zatz M, Kunkel LM
  Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet. 1996 Nov;59(5):1040-7.
•   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.
•   Muchir A, van Engelen BG, Lammens M, Mislow JM, McNally E, Schwartz K, Bonne G
  Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. Exp Cell Res. 2003 Dec 10;291(2):352-62. doi: 10.1016/j.yexcr.2003.07.002.
•   Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E
  Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science. 1995 Nov 3;270(5237):819-22. doi: 10.1126/science.270.5237.819.
•   Nowak KJ, Walsh P, Jacob RL, Johnsen RD, Peverall J, McNally EM, Wilton SD, Kakulas BA, Laing NG
  Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. Neuromuscul Disord. 2000 Feb;10(2):100-7. doi: 10.1016/s0960-8966(99)00063-2.
•   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.
•   Puckelwartz MJ, Kessler EJ, Kim G, Dewitt MM, Zhang Y, Earley JU, Depreux FF, Holaska J, Mewborn SK, Pytel P, McNally EM
  Nesprin-1 mutations in human and murine cardiomyopathy. J Mol Cell Cardiol. 2010 Apr;48(4):600-8. doi: 10.1016/j.yjmcc.2009.11.006. Epub 2009 Nov 24.
•   Puckelwartz MJ, Pesce LL, Nelakuditi V, Dellefave-Castillo L, Golbus JR, Day SM, Cappola TP, Dorn GW 2nd, Foster IT, McNally EM
  Supercomputing for the parallelization of whole genome analysis. Bioinformatics. 2014 Jun 1;30(11):1508-13. doi: 10.1093/bioin
•   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.
•   Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M
  Dysferlin protein analysis in limb-girdle muscular dystrophies. J Mol Neurosci. 2001 Aug;17(1):71-80. doi: 10.1385/JMN:17:1:71.
•   van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA
  Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet. 1997 Apr;60(4):891-5.
•   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.

Details for clinical trial NCT00138931