Elizabeth M McNally

  • 12249 Citations
1983 …2024
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Research Output 1983 2020

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
Advisory Committees
Neuromuscular Diseases
Anniversaries and Special Events
Rare Diseases
Pharmaceutical Preparations
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

Netherlands
Education

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., Nov 4 2019, In : Disease models & mechanisms. 13, 2

Research output: Contribution to journalArticle

Open Access
Limb-Girdle Muscular Dystrophies
Exons
Genes
Sarcoglycans
Testing

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

McNally, E., Sep 18 2019, In : Disease models & mechanisms. 13, 2

Research output: Contribution to journalArticle

Open Access
Inborn Genetic Diseases
Medicine
Heart Diseases
Interviews
Muscle

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

Cell-Penetrating Peptides
Neuromuscular Diseases
Antisense Oligonucleotides
Spinal Muscular Atrophy
Myotonic Dystrophy

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
Sulfonylurea Receptors
Myocardium
Glucose
Facilitative Glucose Transport Proteins
Glycolysis
3 Citations (Scopus)

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
Myotonic Dystrophy
Cardiac Myocytes
Induced Pluripotent Stem Cells
Nucleotides
Trinucleotide Repeat Expansion
1 Citation (Scopus)

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

Dual Specificity Phosphatase 6
Extracellular Signal-Regulated MAP Kinases
Muscular Dystrophies
Growth
Myoblasts
1 Citation (Scopus)

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

Genetic Testing
Medicine
Channelopathies
Neuromuscular Diseases
Cardiomyopathies
1 Citation (Scopus)

Genetic Spectrum of Arrhythmogenic Cardiomyopathy

Gacita, A. M. & McNally, E. M., Mar 1 2019, In : Circulation. Heart failure. 12, 3, p. e005850

Research output: Contribution to journalEditorial

Open Access
Sarcomeres
Cardiomyopathies
Heart Failure
Phenotype
Mutation
3 Citations (Scopus)

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
Inbred mdx Mouse
Muscular Dystrophies
Adiponectin
Duchenne Muscular Dystrophy
Muscles

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

Dilated Cardiomyopathy
Genetic Association Studies
Cardiac Arrhythmias
Mutation

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
Annexin A6
Annexins
Muscles
Membranes
Wounds and Injuries

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

Hypertrophic Cardiomyopathy
2018
3 Citations (Scopus)
Dystrophin
Duchenne Muscular Dystrophy
Netherlands
Biomarkers
Education
15 Citations (Scopus)

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

Cardiovascular Diseases
Genes
Single Nucleotide Polymorphism
Induced Pluripotent Stem Cells
Stem cells
7 Citations (Scopus)

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

Cardiomyopathies
Cardiac Myocytes
Genotype
Phenotype
Induced Pluripotent Stem Cells
8 Citations (Scopus)

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

Duchenne Muscular Dystrophy
Heart Failure
Dystrophin
Heart-Assist Devices
Defibrillators
2 Citations (Scopus)

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
Morpholinos
Exons
Reading Frames
Mutation
Sarcoglycans
2 Citations (Scopus)

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

Cardiomyopathies
Genes
Mutation
Duchenne Muscular Dystrophy
Antisense Oligonucleotides

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

Genetic Testing
Sudden Death
Coroners and Medical Examiners
Costs and Cost Analysis
Insurance Coverage

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

Cardiomyopathies
Heart Failure
1 Citation (Scopus)

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

Induced Pluripotent Stem Cells
Dilated Cardiomyopathy
Cardiomyopathies
Cardiac Myocytes
Heart Diseases
1 Citation (Scopus)

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

Duchenne Muscular Dystrophy
Myocarditis
Steroids
Inflammation
Prednisone
Wolff-Parkinson-White Syndrome
Bundle-Branch Block
Syncope
Muscular Diseases
Accessory Atrioventricular Bundle
5 Citations (Scopus)

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

Biglycan
Duchenne Muscular Dystrophy
Extracellular Matrix
Carrier Proteins
Dystrophin
2 Citations (Scopus)

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

Cardiomyopathies
Hypertrophy
Pediatrics
2 Citations (Scopus)

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
Muscle Weakness
Premature Aging
Muscles
Nuclear Envelope
Myosins
2 Citations (Scopus)

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

Genetic Testing
1 Citation (Scopus)

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

Adenosine Triphosphate
Cardiac Myocytes
Mitochondria
Sulfonylurea Receptors
Diazoxide
2017
2 Citations (Scopus)

Cardiomyopathy in muscular dystrophy: When to treat?

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

Research output: Contribution to journalEditorial

Muscular Dystrophies
Cardiomyopathies
102 Citations (Scopus)

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

Dilated Cardiomyopathy
Genetic Testing
Cardiac Arrhythmias
Cardiomyopathies
Genes
10 Citations (Scopus)

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

Myofibrils
Dilated Cardiomyopathy
Myosins
Cardiac Arrhythmias
Carrier Proteins

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

Clustered Regularly Interspaced Short Palindromic Repeats
Dystrophin
Mutation
Gene Editing
5 Citations (Scopus)

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

muscular dystrophy
modifiers (genes)
Muscular Dystrophies
transforming growth factors
osteopontin

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

Incidental Findings
Hypertrophic Cardiomyopathy
Genetic Testing
Mutation
Genes
1 Citation (Scopus)

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

Genetic Testing
10 Citations (Scopus)

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 1 2017, In : American Journal of Pathology. 187, 11, p. 2520-2535 16 p.

Research output: Contribution to journalArticle

Limb-Girdle Muscular Dystrophies
Glucocorticoids
Muscles
Muscular Dystrophies
Prednisone
21 Citations (Scopus)

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

Muscular Atrophy
Glucocorticoids
Steroids
Muscles
F-Box Proteins
4 Citations (Scopus)

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

skeletal muscle
MicroRNAs
Muscle
Skeletal Muscle
mice
16 Citations (Scopus)

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

Cell Communication
Muscle Cells
Exosomes
Regeneration
Muscles
2 Citations (Scopus)

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

Duchenne Muscular Dystrophy
Exons
Mutation
Therapeutics
25 Citations (Scopus)

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

Muscle Development
Nuclear Envelope
Dilated Cardiomyopathy
Lamin Type A
Nuclear Matrix
12 Citations (Scopus)

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

Muscular Dystrophies
Muscles
Regeneration
Mutation
Osteopontin
2016

Abnormal Muscle Pathology and Physiology

Bogdanovich, S., Gardner, B. B. & McNally, E. M., Nov 15 2016, Cardioskeletal Myopathies in Children and Young Adults. Elsevier Inc, p. 65-82 18 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Inborn Genetic Diseases
Cardiomyopathies
Myocardium
Pathology
Muscles
45 Citations (Scopus)

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

Annexins
Actins
Cell Membrane
Muscles
Annexin A6

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

Cardiac Myocytes
16 Citations (Scopus)

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

Kim, E. Y., Page, P., Castillo, L. M., McNally, E. M. & Wyatt, E. J., Sep 15 2016, In : Skeletal Muscle. 6, 1, 32.

Research output: Contribution to journalArticle

Urine
Muscles
Fibroblasts
Clustered Regularly Interspaced Short Palindromic Repeats
Induced Pluripotent Stem Cells
13 Citations (Scopus)

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

Demonbreun, A. R., Allen, M. V., Warner, J. L., Barefield, D. Y., Krishnan, S., Swanson, K. E., Earley, J. U. & McNally, E. M., Jun 1 2016, In : American Journal of Pathology. 186, 6, p. 1610-1622 13 p.

Research output: Contribution to journalArticle

Annexin A6
Muscular Dystrophies
Inbred C57BL Mouse
Muscles
Sarcolemma
7 Citations (Scopus)
heart failure
Cardiac Myocytes
Heart Failure
Growth
cardiomyopathy