Elizabeth M McNally

  • 12249 Citations
1983 …2024
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Research Output 1983 2020

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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

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
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

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
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

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
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
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
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
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
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
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
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
2016
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
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
8 Citations (Scopus)

Genotype-specific interaction of latent TGFβ binding protein 4 with TGFβ

Lamar, K. M., Miller, T., Dellefave-Castillo, L. & McNally, E. M., Feb 2016, In : PloS one. 11, 2, e0150358.

Research output: Contribution to journalArticle

binding proteins
cardiomyopathy
Carrier Proteins
Dilated Cardiomyopathy
Alleles
17 Citations (Scopus)

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

Lamar, K. M., Bogdanovich, S., Gardner, B. B., Gao, Q. Q., Miller, T., Earley, J. U., Hadhazy, M., Vo, A. H., Wren, L., Molkentin, J. D. & McNally, E. M., May 2016, In : PLoS genetics. 12, 5, e1006019.

Research output: Contribution to journalArticle

Myostatin
myostatin
muscular dystrophy
Muscular Dystrophies
binding proteins
30 Citations (Scopus)

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

Nadadur, R. D., Broman, M. T., Boukens, B., Mazurek, S. R., Yang, X., Van Den Boogaard, M., Bekeny, J., Gadek, M., Ward, T., Zhang, M., Qiao, Y., Martin, J. F., Seidman, C. E., Seidman, J., Christoffels, V., Efimov, I. R., McNally, E. M., Weber, C. R. & Moskowitz, I. P., Aug 31 2016, In : Science translational medicine. 8, 354, 354ra115.

Research output: Contribution to journalArticle

Gene Regulatory Networks
Atrial Fibrillation
Haploinsufficiency
Gene Expression
Ryanodine Receptor Calcium Release Channel
23 Citations (Scopus)

Plasma Membrane Repair in Health and Disease

Demonbreun, A. R. & McNally, E. M., Jan 1 2016, In : Current topics in membranes. 77, p. 67-96 30 p.

Research output: Contribution to journalArticle

Cell Membrane
Membranes
Muscles
Skeletal Muscle
Annexins
7 Citations (Scopus)

Standard Operating Procedures (SOPs) for Evaluating the Heart in Preclinical Studies of Duchenne Muscular Dystrophy

Duan, D., Rafael-Fortney, J. A., Blain, A., Kass, D. A., McNally, E. M., Metzger, J. M., Spurney, C. F. & Kinnett, K., Feb 1 2016, In : Journal of Cardiovascular Translational Research. 9, 1, p. 85-86 2 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
National Heart, Lung, and Blood Institute (U.S.)
Group Processes
Muscular Dystrophies
Cardiomyopathies
15 Citations (Scopus)

Thrombospondin expression in myofibers stabilizes muscle membranes

Vanhoutte, D., Schips, T. G., Kwong, J. Q., Davis, J., Tjondrokoesoemo, A., Brody, M. J., Sargent, M. A., Kanisicak, O., Yi, H., Gao, Q. Q., Rabinowitz, J. E., Volk, T., McNally, E. M. & Molkentin, J. D., Sep 26 2016, In : eLife. 5, September2016, e17589.

Research output: Contribution to journalArticle

Thrombospondins
Muscular Dystrophies
Muscle
Membranes
Muscles
2015
17 Citations (Scopus)

204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands

Ferlini, A., Flanigan, K. M., Lochmuller, H., Muntoni, F., 't Hoen, P. A. C. & McNally, E., Feb 1 2015, In : Neuromuscular Disorders. 25, 2, p. 184-198 15 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Cardiac function in muscular dystrophy associates with abdominal muscle pathology

Gardner, B. B., Swaggart, K. A., Kim, G., Watson, S. & McNally, E. M., Jan 1 2015, In : Journal of neuromuscular diseases. 2, 1, p. 39-49 11 p.

Research output: Contribution to journalArticle

Abdominal Muscles
Muscular Dystrophies
Fibrosis
Pathology
Muscles
95 Citations (Scopus)

Contemporary cardiac issues in Duchenne muscular dystrophy

McNally, E. M., Kaltman, J. R., Woodrow Benson, D., Canter, C. E., Cripe, L. H., Duan, D., Finder, J. D., Hoffman, E. P., Judge, D. P., Kertesz, N., Kinnett, K., Kirsch, R., Metzger, J. M., Pearson, G. D., Rafael-Fortney, J. A., Raman, S. V., Spurney, C. F., Targum, S. L., Wagner, K. R. & Markham, L. W., Jan 1 2015, In : Circulation. 131, 18, p. 1590-1598 9 p.

Research output: Contribution to journalArticle

Cardiovascular Diagnostic Techniques
Biological Specimen Banks
Respiration Disorders
Animal Disease Models
Combined Modality Therapy
15 Citations (Scopus)

Disruption of the lamin A and matrin-3 interaction by myopathic LMNA mutations

Depreux, F. F., Roy-Puckelwartz, M. J., Augustynowicz, A., Wolfgeher, D., Labno, C. M., Pierre-Louis, D., Cicka, D., Kron, S. J., Holaska, J. & McNally, E. M., Aug 1 2015, In : Human molecular genetics. 24, 15, p. 4284-4295 12 p.

Research output: Contribution to journalArticle

Lamin Type A
Mutation
Muscular Diseases
Intermediate Filament Proteins
Nuclear Matrix
7 Citations (Scopus)

DNA electroporation, isolation and imaging of myofibers

Demonbreun, A. R. & McNally, E. M., Dec 23 2015, In : Journal of Visualized Experiments. 2015, 106, e53551.

Research output: Contribution to journalArticle

Electroporation
Muscle
DNA
Imaging techniques
Muscles
7 Citations (Scopus)

Eps 15 homology domain (EHD)-1 remodels transverse tubules in skeletal muscle

Demonbreun, A. R., Swanson, K. E., Rossi, A. E., Deveaux, H. K., Earley, J. U., Allen, M. V., Arya, P., Bhattacharyya, S., Band, H., Pytel, P. & McNally, E. M., Sep 1 2015, In : PloS one. 10, 9, e0136679.

Research output: Contribution to journalArticle

sequence homology
Muscle
skeletal muscle
Skeletal Muscle
Muscles
16 Citations (Scopus)

Genetic variation in cardiomyopathy and cardiovascular disorders

McNally, E. M. & Puckelwartz, M. J., Jun 9 2015, In : Circulation Journal. 79, 7, p. 1409-1415 7 p.

Research output: Contribution to journalArticle

Cardiomyopathies
Human Genome
Genome
Cardiovascular Diseases
Databases
5 Citations (Scopus)

GRAF1 deficiency blunts sarcolemmal injury repair and exacerbates cardiac and skeletal muscle pathology in dystrophin-deficient mice

Lenhart, K. C., O'Neill, T. J., Cheng, Z., Dee, R., Demonbreun, A. R., Li, J., Xiao, X., McNally, E. M., Mack, C. P. & Taylor, J. M., Aug 21 2015, In : Skeletal Muscle. 5, 1, 27.

Research output: Contribution to journalArticle

Focal Adhesion Kinase 1
Dystrophin
Nonpenetrating Wounds
GTP Phosphohydrolases
Myocardium
20 Citations (Scopus)

Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy

Lee, Y. S., Lehar, A., Sebald, S., Liu, M., Swaggart, K. A., Conover Talbot, C., Pytel, P., Barton, E. R., McNally, E. M. & Lee, S. J., Jun 5 2015, In : Human molecular genetics. 24, 20, p. 5711-5719 9 p.

Research output: Contribution to journalArticle

Myostatin
Hypertrophy
Muscles
Follistatin
Transgenes
17 Citations (Scopus)

Reengineering a transmembrane protein to treat muscular dystrophy using exon skipping

Gao, Q. Q., Wyatt, E., Goldstein, J. A., LoPresti, P., Castillo, L. M., Gazda, A., Petrossian, N., Earley, J. U., Hadhazy, M., Barefield, D. Y., Demonbreun, A. R., Bönnemann, C., Wolf, M. & McNally, E. M., Nov 2 2015, In : Journal of Clinical Investigation. 125, 11, p. 4186-4195 10 p.

Research output: Contribution to journalArticle

Sarcoglycans
Muscular Dystrophies
Exons
Dystrophin
Proteins
38 Citations (Scopus)

The dystrophin complex: Structure, function, and implications for therapy

Gao, Q. Q. & McNally, E. M., Jul 1 2015, In : Comprehensive Physiology. 5, 3, p. 1223-1239 17 p.

Research output: Contribution to journalArticle

Dystrophin
Therapeutics
Dystrophin-Associated Proteins
Cell Membrane
Mutation
2014
11 Citations (Scopus)

Abcc9 is required for the transition to oxidative metabolism in the newborn heart

Fahrenbach, J. P., Stoller, D., Kim, G., Aggarwal, N., Yerokun, B., Earley, J. U., Hadhazy, M., Shi, N. Q., Makielski, J. C. & McNally, E. M., Jul 1 2014, In : FASEB Journal. 28, 7, p. 2804-2815 12 p.

Research output: Contribution to journalArticle

Mitochondria
Metabolism
Newborn Infant
Cardiac Myocytes
Membranes
65 Citations (Scopus)

Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair

Swaggart, K. A., Demonbreun, A. R., Vo, A. H., Swanson, K. E., Kim, E. Y., Fahrenbach, J. P., Holley-Cuthrell, J., Eskin, A., Chen, Z., Squire, K., Heydemann, A., Palmer, A. A., Nelson, S. F. & McNally, E. M., Apr 22 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 16, p. 6004-6009 6 p.

Research output: Contribution to journalArticle

Annexin A6
Muscular Dystrophies
Membranes
Modifier Genes
RNA Sequence Analysis
32 Citations (Scopus)

Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity

Demonbreun, A. R., Rossi, A. E., Alvarez, M. G., Swanson, K. E., Deveaux, H. K., Earley, J. U., Hadhazy, M., Vohra, R., Walter, G. A., Pytel, P. & McNally, E. M., Jan 1 2014, In : American Journal of Pathology. 184, 1, p. 248-259 12 p.

Research output: Contribution to journalArticle

Glycerol
Muscles
Muscular Dystrophies
Sarcoplasmic Reticulum
Muscular Diseases