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A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping.

Demonbreun AR, Wyatt EJ, Fallon KS, Oosterbaan CC, Page PG, Hadhazy M, Quattrocelli M, Barefield DY, McNally EM.

Dis Model Mech. 2019 Nov 4;13(2). pii: dmm040832. doi: 10.1242/dmm.040832.


Better living through peptide-conjugated chemistry: next-generation antisense oligonucleotides.

McNally EM, Leverson BD.

J Clin Invest. 2019 Nov 1;129(11):4570-4571. doi: 10.1172/JCI131933.


Recombinant annexin A6 promotes membrane repair and protects against muscle injury.

Demonbreun AR, Fallon KS, Oosterbaan CC, Bogdanovic E, Warner JL, Sell JJ, Page PG, Quattrocelli M, Barefield DY, McNally EM.

J Clin Invest. 2019 Nov 1;129(11):4657-4670. doi: 10.1172/JCI128840.


Predicting Arrhythmia Risk in Dilated Cardiomyopathy Using Genetic Mutation Status.

McNally EM, Amaral AP.

J Am Coll Cardiol. 2019 Sep 17;74(11):1491-1493. doi: 10.1016/j.jacc.2019.07.034. No abstract available.


Spp1 (osteopontin) promotes TGFβ processing in fibroblasts of dystrophin deficient muscles through matrix metalloproteinases.

Kramerova I, Kumagai-Cresse C, Ermolova N, Mokhonova E, Marinov M, Capote J, Becerra D, Quattrocelli M, Crosbie RH, Welch E, McNally EM, Spencer MJ.

Hum Mol Genet. 2019 Aug 14. pii: ddz181. doi: 10.1093/hmg/ddz181. [Epub ahead of print]


Risk Prediction Model in Children With Hypertrophic Cardiomyopathy: A Work in Progress.

Bonow RO, McNally EM.

JAMA Cardiol. 2019 Aug 14. doi: 10.1001/jamacardio.2019.2945. [Epub ahead of print] No abstract available.


Genetic Counselors' Approach To Postmortem Genetic Testing After Sudden Death: An Exploratory Study.

Liu G, MacLeod H, Webster G, McNally EM, O'Neill SM, Dellefave-Castillo L.

Acad Forensic Pathol. 2018 Sep;8(3):738-751. doi: 10.1177/1925362118797748. Epub 2018 Aug 31.


Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association.

Ahmad F, McNally EM, Ackerman MJ, Baty LC, Day SM, Kullo IJ, Madueme PC, Maron MS, Martinez MW, Salberg L, Taylor MR, Wilcox JE.

Circ Genom Precis Med. 2019 Jun;12(6):e000054. doi: 10.1161/HCG.0000000000000054. Epub 2019 May 23.


Deletion of Sulfonylurea Receptor 2 in the Adult Myocardium Enhances Cardiac Glucose Uptake and Is Cardioprotective.

Aubert G, Barefield DY, Demonbreun AR, Ramratnam M, Fallon KS, Warner JL, Rossi AE, Hadhazy M, Makielski JC, McNally EM.

JACC Basic Transl Sci. 2019 Apr 29;4(2):251-268. doi: 10.1016/j.jacbts.2018.11.012. eCollection 2019 Apr.


Moderate exercise improves function and increases adiponectin in the mdx mouse model of muscular dystrophy.

Zelikovich AS, Quattrocelli M, Salamone IM, Kuntz NL, McNally EM.

Sci Rep. 2019 Apr 8;9(1):5770. doi: 10.1038/s41598-019-42203-z.


Genetic Spectrum of Arrhythmogenic Cardiomyopathy.

Gacita AM, McNally EM.

Circ Heart Fail. 2019 Mar;12(3):e005850. doi: 10.1161/CIRCHEARTFAILURE.119.005850. No abstract available.


Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes.

Kim EY, Barefield DY, Vo AH, Gacita AM, Schuster EJ, Wyatt EJ, Davis JL, Dong B, Sun C, Page P, Dellefave-Castillo L, Demonbreun A, Zhang HF, McNally EM.

JCI Insight. 2019 Mar 21;4(6). pii: 122686. doi: 10.1172/jci.insight.122686. eCollection 2019 Mar 21.


Modeling Human Dilated Cardiomyopathy Using Humans.

Gacita AM, Puckelwartz MJ, McNally EM.

JACC Basic Transl Sci. 2018 Dec 31;3(6):741-743. doi: 10.1016/j.jacbts.2018.11.005. eCollection 2018 Dec. No abstract available.


New DEStiny Revealed.

Aubert G, Ajroud-Driss S, Knight BP, Shah SJ, McNally EM.

Circulation. 2018 Sep 18;138(12):1267-1271. doi: 10.1161/CIRCULATIONAHA.118.035577. No abstract available.


Dusp6 is a genetic modifier of growth through enhanced ERK activity.

Vo AH, Swaggart KA, Woo A, Gao QQ, Demonbreun AR, Fallon KS, Quattrocelli M, Hadhazy M, Page PGT, Chen Z, Eskin A, Squire K, Nelson SF, McNally EM.

Hum Mol Genet. 2019 Jan 15;28(2):279-289. doi: 10.1093/hmg/ddy349.


Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness.

Levy Y, Ross JA, Niglas M, Snetkov VA, Lynham S, Liao CY, Puckelwartz MJ, Hsu YM, McNally EM, Alsheimer M, Harridge SD, Young SG, Fong LG, Español Y, Lopez-Otin C, Kennedy BK, Lowe DA, Ochala J.

JCI Insight. 2018 Oct 4;3(19). pii: 120920. doi: 10.1172/jci.insight.120920.


Cardiac Management of the Patient With Duchenne Muscular Dystrophy.

Buddhe S, Cripe L, Friedland-Little J, Kertesz N, Eghtesady P, Finder J, Hor K, Judge DP, Kinnett K, McNally EM, Raman S, Thompson WR, Wagner KR, Olson AK.

Pediatrics. 2018 Oct;142(Suppl 2):S72-S81. doi: 10.1542/peds.2018-0333I. Review.


Colonoscopic-Guided Pinch Biopsies in Mice as a Useful Model for Evaluating the Roles of Host and Luminal Factors in Colonic Inflammation.

Montrose DC, Zhou XK, McNally EM, Sue E, Wang H, Nishiguchi R, Verma A, Elemento O, Simpson KW, Yang P, Hla T, Dannenberg AJ.

Am J Pathol. 2018 Dec;188(12):2811-2825. doi: 10.1016/j.ajpath.2018.08.016. Epub 2018 Sep 28.


Myocarditis in Duchenne Muscular Dystrophy After Changing Steroids.

Abutaleb ARA, McNally EM, Khan SS, Anderson AS, Carr JC, Wilcox JE.

JAMA Cardiol. 2018 Oct 1;3(10):1006-1010. doi: 10.1001/jamacardio.2018.2695.


Is Heart Failure Inherited?: Beyond the Cardiomyopathies, Genetics Do Matter.

O'Donnell CJ, Yancy CW, McNally EM.

JAMA Cardiol. 2018 Aug 1;3(8):710-711. doi: 10.1001/jamacardio.2018.1918. No abstract available.


Transgenic overexpression of the SUR2A-55 splice variant in mouse heart reduces infract size and promotes protective mitochondrial function.

Ramratnam M, Kenny B, Kyle JW, Wiedmeyer B, Hacker TA, Barefield DY, McNally EM, Makielski JC.

Heliyon. 2018 Jul 4;4(7):e00677. doi: 10.1016/j.heliyon.2018.e00677. eCollection 2018 Jul.


A promoter interaction map for cardiovascular disease genetics.

Montefiori LE, Sobreira DR, Sakabe NJ, Aneas I, Joslin AC, Hansen GT, Bozek G, Moskowitz IP, McNally EM, Nóbrega MA.

Elife. 2018 Jul 10;7. pii: e35788. doi: 10.7554/eLife.35788.


Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers.

Wyatt EJ, Demonbreun AR, Kim EY, Puckelwartz MJ, Vo AH, Dellefave-Castillo LM, Gao QQ, Vainzof M, Pavanello RCM, Zatz M, McNally EM.

JCI Insight. 2018 May 3;3(9). pii: 99357. doi: 10.1172/jci.insight.99357.


Pediatric Hypertrophy Cardiomyopathy-Another Case Where Children Are Not Small Adults.

McNally EM.

JAMA Cardiol. 2018 Jun 1;3(6):526. doi: 10.1001/jamacardio.2018.0819. No abstract available.


Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants.

Viswanathan SK, Puckelwartz MJ, Mehta A, Ramachandra CJA, Jagadeesan A, Fritsche-Danielson R, Bhat RV, Wong P, Kandoi S, Schwanekamp JA, Kuffel G, Pesce LL, Zilliox MJ, Durai UNB, Verma RS, Molokie RE, Suresh DP, Khoury PR, Thomas A, Sanagala T, Tang HC, Becker RC, Knöll R, Shim W, McNally EM, Sadayappan S.

JAMA Cardiol. 2018 Jun 1;3(6):481-488. doi: 10.1001/jamacardio.2018.0618.


Gene Editing and Gene-Based Therapeutics for Cardiomyopathies.

Ohiri JC, McNally EM.

Heart Fail Clin. 2018 Apr;14(2):179-188. doi: 10.1016/j.hfc.2017.12.006. Review.


Reducing Racial/Ethnic Disparities in Cardiovascular Genetic Testing.

Dellefave-Castillo LM, Puckelwartz MJ, McNally EM.

JAMA Cardiol. 2018 Apr 1;3(4):277-279. doi: 10.1001/jamacardio.2017.5382. No abstract available.


Non-Glycanated Biglycan and LTBP4: Leveraging the extracellular matrix for Duchenne Muscular Dystrophy therapeutics.

Fallon JR, McNally EM.

Matrix Biol. 2018 Aug;68-69:616-627. doi: 10.1016/j.matbio.2018.02.016. Epub 2018 Feb 23. Review.


226th ENMC International Workshop:: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands.

Aartsma-Rus A, Ferlini A, McNally EM, Spitali P, Sweeney HL; workshop participants.

Neuromuscul Disord. 2018 Jan;28(1):77-86. doi: 10.1016/j.nmd.2017.10.002. Epub 2017 Oct 26. No abstract available.


Genetic modifiers of muscular dystrophy act on sarcolemmal resealing and recovery from injury.

Quattrocelli M, Capote J, Ohiri JC, Warner JL, Vo AH, Earley JU, Hadhazy M, Demonbreun AR, Spencer MJ, McNally EM.

PLoS Genet. 2017 Oct 24;13(10):e1007070. doi: 10.1371/journal.pgen.1007070. eCollection 2017 Oct.


Hypertrophic Cardiomyopathy Gene Testing: Go Big?

Puckelwartz MJ, McNally EM.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001951. doi: 10.1161/CIRCGENETICS.117.001951. No abstract available.


Gene Editing for the Heart: Correcting Dystrophin Mutations.

McNally EM.

Circ Res. 2017 Sep 29;121(8):896-898. doi: 10.1161/CIRCRESAHA.117.311865. No abstract available.


Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.

McNally EM, Mestroni L.

Circ Res. 2017 Sep 15;121(7):731-748. doi: 10.1161/CIRCRESAHA.116.309396. Review.


Mutation-Based Therapy for Duchenne Muscular Dystrophy: Antisense Treatment Arrives in the Clinic.

McNally EM, Wyatt EJ.

Circulation. 2017 Sep 12;136(11):979-981. doi: 10.1161/CIRCULATIONAHA.117.028382. No abstract available.


Intermittent Glucocorticoid Dosing Improves Muscle Repair and Function in Mice with Limb-Girdle Muscular Dystrophy.

Quattrocelli M, Salamone IM, Page PG, Warner JL, Demonbreun AR, McNally EM.

Am J Pathol. 2017 Nov;187(11):2520-2535. doi: 10.1016/j.ajpath.2017.07.017. Epub 2017 Aug 18.


Incorporating Genetic Testing Into Cardiovascular Practice.

McNally EM.

JAMA Cardiol. 2017 Oct 1;2(10):1151-1152. doi: 10.1001/jamacardio.2017.2626. No abstract available.


Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.

Barefield DY, Puckelwartz MJ, Kim EY, Wilsbacher LD, Vo AH, Waters EA, Earley JU, Hadhazy M, Dellefave-Castillo L, Pesce LL, McNally EM.

Circulation. 2017 Oct 17;136(16):1477-1491. doi: 10.1161/CIRCULATIONAHA.117.028585. Epub 2017 Aug 4.


Intermittent glucocorticoid steroid dosing enhances muscle repair without eliciting muscle atrophy.

Quattrocelli M, Barefield DY, Warner JL, Vo AH, Hadhazy M, Earley JU, Demonbreun AR, McNally EM.

J Clin Invest. 2017 Jun 1;127(6):2418-2432. doi: 10.1172/JCI91445. Epub 2017 May 8.


Muscle cell communication in development and repair.

Demonbreun AR, McNally EM.

Curr Opin Pharmacol. 2017 Jun;34:7-14. doi: 10.1016/j.coph.2017.03.008. Epub 2017 Apr 15. Review.


Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.

Zhou C, Li C, Zhou B, Sun H, Koullourou V, Holt I, Puckelwartz MJ, Warren DT, Hayward R, Lin Z, Zhang L, Morris GE, McNally EM, Shackleton S, Rao L, Shanahan CM, Zhang Q.

Hum Mol Genet. 2017 Jun 15;26(12):2258-2276. doi: 10.1093/hmg/ddx116.


Outside in: The matrix as a modifier of muscular dystrophy.

Quattrocelli M, Spencer MJ, McNally EM.

Biochim Biophys Acta Mol Cell Res. 2017 Mar;1864(3):572-579. doi: 10.1016/j.bbamcr.2016.12.020. Epub 2016 Dec 21. Review.


Cardiomyopathy in Muscular Dystrophy: When to Treat?

McNally EM.

JAMA Cardiol. 2017 Feb 1;2(2):199. doi: 10.1001/jamacardio.2016.4910. No abstract available.


Thrombospondin expression in myofibers stabilizes muscle membranes.

Vanhoutte D, Schips TG, Kwong JQ, Davis J, Tjondrokoesoemo A, Brody MJ, Sargent MA, Kanisicak O, Yi H, Gao QQ, Rabinowitz JE, Volk T, McNally EM, Molkentin JD.

Elife. 2016 Sep 26;5. pii: e17589. doi: 10.7554/eLife.17589.


Direct reprogramming of urine-derived cells with inducible MyoD for modeling human muscle disease.

Kim EY, Page P, Dellefave-Castillo LM, McNally EM, Wyatt EJ.

Skelet Muscle. 2016 Sep 15;6:32. doi: 10.1186/s13395-016-0103-9. eCollection 2016.


Pitx2 modulates a Tbx5-dependent gene regulatory network to maintain atrial rhythm.

Nadadur RD, Broman MT, Boukens B, Mazurek SR, Yang X, van den Boogaard M, Bekeny J, Gadek M, Ward T, Zhang M, Qiao Y, Martin JF, Seidman CE, Seidman J, Christoffels V, Efimov IR, McNally EM, Weber CR, Moskowitz IP.

Sci Transl Med. 2016 Aug 31;8(354):354ra115. doi: 10.1126/scitranslmed.aaf4891.


BMP and WNT: the road to cardiomyocytes is paved with precise modulation.

Quattrocelli M, McNally EM.

Stem Cell Investig. 2016 Jun 15;3:21. doi: 10.21037/sci.2016.06.02. eCollection 2016. No abstract available.


Celecoxib Alters the Intestinal Microbiota and Metabolome in Association with Reducing Polyp Burden.

Montrose DC, Zhou XK, McNally EM, Sue E, Yantiss RK, Gross SS, Leve ND, Karoly ED, Suen CS, Ling L, Benezra R, Pamer EG, Dannenberg AJ.

Cancer Prev Res (Phila). 2016 Sep;9(9):721-31. doi: 10.1158/1940-6207.CAPR-16-0095. Epub 2016 Jul 18.


An actin-dependent annexin complex mediates plasma membrane repair in muscle.

Demonbreun AR, Quattrocelli M, Barefield DY, Allen MV, Swanson KE, McNally EM.

J Cell Biol. 2016 Jun 20;213(6):705-18. doi: 10.1083/jcb.201512022. Epub 2016 Jun 13.


Overexpression of Latent TGFβ Binding Protein 4 in Muscle Ameliorates Muscular Dystrophy through Myostatin and TGFβ.

Lamar KM, Bogdanovich S, Gardner BB, Gao QQ, Miller T, Earley JU, Hadhazy M, Vo AH, Wren L, Molkentin JD, McNally EM.

PLoS Genet. 2016 May 5;12(5):e1006019. doi: 10.1371/journal.pgen.1006019. eCollection 2016 May.


Enhanced Muscular Dystrophy from Loss of Dysferlin Is Accompanied by Impaired Annexin A6 Translocation after Sarcolemmal Disruption.

Demonbreun AR, Allen MV, Warner JL, Barefield DY, Krishnan S, Swanson KE, Earley JU, McNally EM.

Am J Pathol. 2016 Jun;186(6):1610-22. doi: 10.1016/j.ajpath.2016.02.005. Epub 2016 Apr 9.

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