Elizabeth M McNally

  • 12426 Citations
1983 …2024

Research output per year

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Research Output

2020

A decade of optimizing drug development for rare neuromuscular disorders through TACT

Wagner, K. R., De Luca, A., Caizergues, D., Dowling, J., Goemans, N., Gordish-Dressman, H., Grounds, M. D., Kelly, M., Mayhew, A., McNally, E. M., Zoetis, T., Lee, J., Turner, C., Wells, D. J., Csimma, C. & Straub, V., Jan 1 2020, In : Nature Reviews Drug Discovery. 19, 1

Research output: Contribution to journalComment/debate

Open Access
1 Scopus citations

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

Demonbreun, A. R., Wyatt, E. J., Fallon, K. S., Oosterbaan, C. C., Page, P. G., Hadhazy, M., Quattrocelli, M., Barefield, D. Y. & McNally, E. M., Jan 1 2020, In : DMM Disease Models and Mechanisms. 13, 2, dmm040832.

Research output: Contribution to journalArticle

Open Access

At the heart of genetic disease: An interview with Elizabeth McNally

McNally, E., Jan 1 2020, In : DMM Disease Models and Mechanisms. 13, 2, dmm041566.

Research output: Contribution to journalComment/debate

Open Access

Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy

McNally, E. M., Mann, D. L., Pinto, Y., Bhakta, D., Tomaselli, G., Nazarian, S., Groh, W. J., Tamura, T., Duboc, D., Itoh, H., Hellerstein, L. & Mammen, P. P. A., Feb 18 2020, In : Journal of the American Heart Association. 9, 4, e014006.

Research output: Contribution to journalArticle

Open Access

Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants

Pottinger, T. D., Puckelwartz, M. J., Pesce, L. L., Robinson, A., Kearns, S., Pacheco, J. A., Rasmussen-Torvik, L. J., Smith, M. E., Chisholm, R. & McNally, E. M., Feb 4 2020, In : Journal of the American Heart Association. 9, 3, e013808.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations
2019

238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018

On behalf of the ENMC 238th Workshop Study Group, Aug 2019, In : Neuromuscular Disorders. 29, 8, p. 634-643 10 p.

Research output: Contribution to journalArticle

Better living through peptide-conjugated chemistry: Next-generation antisense oligonucleotides

McNally, E. M. & Leverson, B. D., Nov 1 2019, In : Journal of Clinical Investigation. 129, 11, p. 4570-4571 2 p.

Research output: Contribution to journalReview article

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

Aubert, G., Barefield, D. Y., Demonbreun, A. R., Ramratnam, M., Fallon, K. S., Warner, J. L., Rossi, A. E., Hadhazy, M., Makielski, J. C. & McNally, E. M., Apr 1 2019, In : JACC: Basic to Translational Science. 4, 2, p. 251-268 18 p.

Research output: Contribution to journalArticle

Open Access

Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes

Kim, E. Y., Barefield, D. Y., Vo, A. H., Gacita, A. M., Schuster, E. J., Wyatt, E. J., Davis, J. L., Dong, B., Sun, C., Page, P., Dellefave-Castillo, L., Demonbreun, A., Zhang, H. F. & McNally, E. M., Mar 21 2019, In : JCI Insight. 4, 6, 122686.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Dusp6 is a genetic modifier of growth through enhanced ERK activity

Vo, A. H., Swaggart, K. A., Woo, A., Gao, Q. Q., Demonbreun, A. R., Fallon, K. S., Quattrocelli, M., Hadhazy, M., Page, P. G. T., Chen, Z., Eskin, A., Squire, K., Nelson, S. F. & McNally, E. M., Jan 15 2019, In : Human molecular genetics. 28, 2, p. 279-289 11 p.

Research output: Contribution to journalArticle

1 Scopus citations

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

Ahmad, F., McNally, E. M., Ackerman, M. J., Baty, L. C., Day, S. M., Kullo, I. J., Madueme, P. C., Maron, M. S., Martinez, M. W., Salberg, L., Taylor, M. R. & Wilcox, J. E., Jun 1 2019, In : Circulation. Genomic and precision medicine. 12, 6, p. e000054

Research output: Contribution to journalArticle

1 Scopus citations

Genetic Spectrum of Arrhythmogenic Cardiomyopathy

Gacita, A. M. & Mcnally, E. M., Mar 1 2019, In : Circulation: Heart Failure. 12, 3, e005850.

Research output: Contribution to journalEditorial

Open Access
1 Scopus citations

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

Zelikovich, A. S., Quattrocelli, M., Salamone, I. M., Kuntz, N. L. & McNally, E. M., Dec 1 2019, In : Scientific reports. 9, 1, 5770.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Predicting Arrhythmia Risk in Dilated Cardiomyopathy Using Genetic Mutation Status

McNally, E. M. & Amaral, A. P., Sep 17 2019, In : Journal of the American College of Cardiology. 74, 11, p. 1491-1493 3 p.

Research output: Contribution to journalEditorial

Pulsed glucocorticoids enhance dystrophic muscle performance through epigenetic-metabolic reprogramming

Quattrocelli, M., Zelikovich, A. S., Jiang, Z., Peek, C. B., Demonbreun, A. R., Kuntz, N. L., Barish, G. D., Haldar, S. M., Bass, J. & McNally, E. M., Dec 19 2019, In : JCI Insight. 4, 24, e132402.

Research output: Contribution to journalArticle

Open Access

Recombinant annexin A6 promotes membrane repair and protects against muscle injury

Demonbreun, A. R., Fallon, K. S., Oosterbaan, C. C., Bogdanovic, E., Warner, J. L., Sell, J. J., Page, P. G., Quattrocelli, M., Barefield, D. Y. & McNally, E. M., Nov 1 2019, In : Journal of Clinical Investigation. 129, 11, p. 4657-4670 14 p.

Research output: Contribution to journalArticle

Open Access

Risk Prediction Model in Children with Hypertrophic Cardiomyopathy: A Work in Progress

Bonow, R. O. & McNally, E. M., Jan 1 2019, (Accepted/In press) In : JAMA cardiology.

Research output: Contribution to journalEditorial

A promoter interaction map for cardiovascular disease genetics

Montefiori, L. E., Sobreira, D. R., Sakabe, N. J., Aneas, I., Joslin, A. C., Hansen, G. T., Bozek, G., Moskowitz, I. P., McNally, E. M. & Nóbrega, M. A., Jul 10 2018, In : eLife. 7, e35788.

Research output: Contribution to journalArticle

15 Scopus citations

Association of cardiomyopathy with MYBPC3 D389V and MYBPC3 Δ25bp intronic deletion in south asian descendants

Viswanathan, S. K., Roy-Puckelwartz, M. J., Mehta, A., Ramachandra, C. J. A., Jagadeesan, A., Fritsche-Danielson, R., Bhat, R. V., Wong, P., Kandoi, S., Schwanekamp, J. A., Kuffel, G., Pesce, L. L., Zilliox, M. J., Durai, U. N. B., Verma, R. S., Molokie, R. E., Suresh, D. P., Khoury, P. R., Thomas, A., Sanagala, T. & 6 others, Tang, H. C., Becker, R. C., Knoll, R., Shim, W., McNally, E. M. & Sadayappan, S., Jun 1 2018, In : JAMA cardiology. 3, 6, p. 481-488 8 p.

Research output: Contribution to journalArticle

7 Scopus citations

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, D. P., Kinnett, K., McNally, E. M., Raman, S., Thompson, W. R., Wagner, K. R. & Olson, A. K., Oct 2018, In : Pediatrics. 142, p. S72-S81

Research output: Contribution to journalArticle

9 Scopus citations

Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers

Wyatt, E. J., Demonbreun, A. R., Kim, E. Y., Puckelwartz, M. J., Vo, A. H., Dellefave-Castillo, L. M., Gao, Q. Q., Vainzof, M., Pavanello, R. C. M., Zatz, M. & McNally, E. M., May 3 2018, In : JCI Insight. 3, 9

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Gene Editing and Gene-Based Therapeutics for Cardiomyopathies

Ohiri, J. C. & McNally, E. M., Apr 1 2018, In : Heart Failure Clinics. 14, 2, p. 179-188 10 p.

Research output: Contribution to journalReview article

2 Scopus citations

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

Liu, G., MacLeod, H., Webster, G., McNally, E. M., O’Neill, S. M. & Dellefave-Castillo, L., Sep 1 2018, In : Academic Forensic Pathology. 8, 3, p. 738-751 14 p.

Research output: Contribution to journalArticle

Is heart failure inherited? Beyond the cardiomyopathies, genetics do matter

O’Donnell, C. J., Yancy, C. W. & McNally, E. M., Aug 2018, In : JAMA cardiology. 3, 8, p. 710-711 2 p.

Research output: Contribution to journalComment/debate

Modeling Human Dilated Cardiomyopathy Using Humans

Gacita, A. M., Roy-Puckelwartz, M. J. & McNally, E. M., Dec 1 2018, In : JACC: Basic to Translational Science. 3, 6, p. 741-743 3 p.

Research output: Contribution to journalEditorial

1 Scopus citations

Myocarditis in Duchenne Muscular Dystrophy after Changing Steroids

Abutaleb, A. R. A., McNally, E. M., Khan, S. S., Anderson, A. S., Carr, J. C. & Wilcox, J. E., Oct 2018, In : JAMA cardiology. 3, 10, p. 1006-1010 5 p.

Research output: Contribution to journalArticle

1 Scopus citations

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

Fallon, J. R. & McNally, E. M., Aug 2018, In : Matrix Biology. 68-69, p. 616-627 12 p.

Research output: Contribution to journalReview article

7 Scopus citations

Pediatric hypertrophy cardiomyopathy-another case where children are not small adults

McNally, E. M., Jun 2018, In : JAMA cardiology. 3, 6, 1 p.

Research output: Contribution to journalComment/debate

2 Scopus citations

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

Levy, Y., Ross, J. A., Niglas, M., Snetkov, V. A., Lynham, S., Liao, C. Y., Puckelwartz, M. J., Hsu, Y. M., McNally, E. M., Alsheimer, M., Harridge, S. D., Young, S. G., Fong, L. G., Español, Y., Lopez-Otin, C., Kennedy, B. K., Lowe, D. A. & Ochala, J., Oct 4 2018, In : JCI Insight. 3, 19

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Reducing racial/ethnic disparities in cardiovascular genetic testing

Dellefave-Castillo, L. M., Puckelwartz, M. J. & McNally, E. M., Apr 2018, In : JAMA cardiology. 3, 4, p. 277-279 3 p.

Research output: Contribution to journalEditorial

3 Scopus citations

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

Ramratnam, M., Kenny, B., Kyle, J. W., Wiedmeyer, B., Hacker, T. A., Barefield, D. Y., McNally, E. M. & Makielski, J. C., Jul 2018, In : Heliyon. 4, 7, e00677.

Research output: Contribution to journalArticle

1 Scopus citations
2017

Abnormal Muscle Pathology and Physiology

Bogdanovich, S., Gardner, B. B. & McNally, E. M., Jan 1 2017, Cardioskeletal Myopathies in Children and Young Adults. Elsevier Inc, p. 65-82 18 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Cardiomyopathy in muscular dystrophy: When to treat?

McNally, E. M., Feb 2017, In : JAMA cardiology. 2, 2, 1 p.

Research output: Contribution to journalEditorial

2 Scopus citations

Dilated cardiomyopathy: Genetic determinants and mechanisms

McNally, E. M. & Mestroni, L., Sep 1 2017, In : Circulation research. 121, 7, p. 731-748 18 p.

Research output: Contribution to journalReview article

110 Scopus citations

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

Barefield, D. Y., Puckelwartz, M. J., Kim, E. Y., Wilsbacher, L. D., Vo, A. H., Waters, E. A., Earley, J. U., Hadhazy, M., Dellefave-Castillo, L., Pesce, L. L. & McNally, E. M., Oct 17 2017, In : Circulation. 136, 16, p. 1477-1491 15 p.

Research output: Contribution to journalArticle

13 Scopus citations

Gene Editing for the Heart: Correcting Dystrophin Mutations

McNally, E. M., Sep 1 2017, In : Circulation research. 121, 8, p. 896-898 3 p.

Research output: Contribution to journalEditorial

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

Quattrocelli, M., Capote, J., Ohiri, J. C., Warner, J. L., Vo, A. H., Earley, J. U., Hadhazy, M., Demonbreun, A. R., Spencer, M. J. & McNally, E. M., Oct 2017, In : PLoS genetics. 13, 10, e1007070.

Research output: Contribution to journalArticle

5 Scopus citations

Hypertrophic Cardiomyopathy Gene Testing: Go Big?

Puckelwartz, M. J. & McNally, E. M., Oct 1 2017, In : Circulation: Cardiovascular Genetics. 10, 5, e001951.

Research output: Contribution to journalEditorial

Incorporating genetic testing into cardiovascular practice

McNally, E. M., Oct 2017, In : JAMA cardiology. 2, 10, p. 1151-1152 2 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

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

Quattrocelli, M., Salamone, I. M., Page, P. G., Warner, J. L., Demonbreun, A. R. & McNally, E. M., Nov 2017, In : American Journal of Pathology. 187, 11, p. 2520-2535 16 p.

Research output: Contribution to journalArticle

13 Scopus citations

Intermittent glucocorticoid steroid dosing enhances muscle repair without eliciting muscle atrophy

Quattrocelli, M., Barefield, D. Y., Warner, J. L., Vo, A. H., Hadhazy, M., Earley, J. U., Demonbreun, A. R. & McNally, E. M., Jun 1 2017, In : Journal of Clinical Investigation. 127, 6, p. 2418-2432 15 p.

Research output: Contribution to journalArticle

27 Scopus citations

MicroRNAs promote skeletal muscle differentiation of mesodermal iPSC-derived progenitors

Giacomazzi, G., Holvoet, B., Trenson, S., Caluwé, E., Kravic, B., Grosemans, H., Cortés-Calabuig, Á., Deroose, C. M., Huylebroeck, D., Hashemolhosseini, S., Janssens, S., McNally, E., Quattrocelli, M. & Sampaolesi, M., Dec 1 2017, In : Nature communications. 8, 1, 1249.

Research output: Contribution to journalArticle

4 Scopus citations

Muscle cell communication in development and repair

Demonbreun, A. R. & McNally, E. M., Jun 1 2017, In : Current Opinion in Pharmacology. 34, p. 7-14 8 p.

Research output: Contribution to journalReview article

18 Scopus citations

Mutation-based therapy for duchenne muscular dystrophy: Antisense treatment arrives in the clinic

McNally, E. M. & Wyatt, E. J., Sep 1 2017, In : Circulation. 136, 11, p. 979-981 3 p.

Research output: Contribution to journalArticle

2 Scopus citations

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, M. J., Warren, D. T., Hayward, R., Lin, Z., Zhang, L., Morris, G. E., McNally, E. M., Shackleton, S., Rao, L., Shanahan, C. M. & Zhang, Q., Jun 15 2017, In : Human molecular genetics. 26, 12, p. 2258-2276 19 p.

Research output: Contribution to journalArticle

27 Scopus citations

Outside in: The matrix as a modifier of muscular dystrophy

Quattrocelli, M., Spencer, M. J. & McNally, E. M., Mar 1 2017, In : Biochimica et Biophysica Acta - Molecular Cell Research. 1864, 3, p. 572-579 8 p.

Research output: Contribution to journalReview article

12 Scopus citations
2016

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

Demonbreun, A. R., Quattrocelli, M., Barefield, D. Y., Allen, M. V., Swanson, K. E. & McNally, E. M., Jan 1 2016, In : Journal of Cell Biology. 213, 6, p. 705-718 14 p.

Research output: Contribution to journalArticle

48 Scopus citations

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

Quattrocelli, M. & McNally, E. M., Jun 1 2016, In : Stem Cell Investigation. 2016, JUN, 21.

Research output: Contribution to journalComment/debate