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Genetic Modifiers for Neuromuscular Diseases.

Journal of neuromuscular diseases

Lamar KM, McNally EM.
PMID: 25729645
J Neuromuscul Dis. 2014;1(1):3-13. doi: 10.3233/JND-140023.

Neuromuscular diseases, which encompass disorders that affect muscle and its innervation, are highly heritable. Genetic diagnosis now frequently pinpoints the primary mutation responsible for a given neuromuscular disease. However, the results from genetic testing indicate that neuromuscular disease phenotypes...

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Lamar KM, McNally EM. Genetic Modifiers for Neuromuscular Diseases. J Neuromuscul Dis. 2014;1(1):3-13doi: 10.3233/JND-140023.
Lamar, K. M., & McNally, E. M. (2014). Genetic Modifiers for Neuromuscular Diseases. Journal of neuromuscular diseases, 1(1), 3-13. https://doi.org/10.3233/JND-140023
Lamar, Kay-Marie, and McNally, Elizabeth M. "Genetic Modifiers for Neuromuscular Diseases." Journal of neuromuscular diseases vol. 1,1 (2014): 3-13. doi: https://doi.org/10.3233/JND-140023
Lamar KM, McNally EM. Genetic Modifiers for Neuromuscular Diseases. J Neuromuscul Dis. 2014;1(1):3-13. doi: 10.3233/JND-140023. PMID: 25729645; PMCID: PMC4339951.
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Genetics of vascular calcification.

Circulation research

McNally EM.
PMID: 21778433
Circ Res. 2011 Jul 22;109(3):248-9. doi: 10.1161/RES.0b013e31822a19fe.

No abstract available.

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McNally EM. Genetics of vascular calcification. Circ Res. 2011;109(3):248-9doi: 10.1161/RES.0b013e31822a19fe.
McNally, E. M. (2011). Genetics of vascular calcification. Circulation research, 109(3), 248-9. https://doi.org/10.1161/RES.0b013e31822a19fe
McNally, Elizabeth M. "Genetics of vascular calcification." Circulation research vol. 109,3 (2011): 248-9. doi: https://doi.org/10.1161/RES.0b013e31822a19fe
McNally EM. Genetics of vascular calcification. Circ Res. 2011 Jul 22;109(3):248-9. doi: 10.1161/RES.0b013e31822a19fe. PMID: 21778433; PMCID: PMC8579865.
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Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.

Neurology. Genetics

Winder TL, Tan CA, Klemm S, White H, Westbrook JM, Wang JZ, Entezam A, Truty R, Nussbaum RL, McNally EM, Aradhya S.
PMID: 32337338
Neurol Genet. 2020 Mar 09;6(2):e412. doi: 10.1212/NXG.0000000000000412. eCollection 2020 Apr.

OBJECTIVE: Molecular genetic testing for hereditary neuromuscular disorders is increasingly used to identify disease subtypes, determine prevalence, and inform management and prognosis, and although many small disease-specific studies have demonstrated the utility of genetic testing, comprehensive data sets are...

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Winder TL, Tan CA, Klemm S, et al. Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders. Neurol Genet. 2020;6(2):e412doi: 10.1212/NXG.0000000000000412.
Winder, T. L., Tan, C. A., Klemm, S., White, H., Westbrook, J. M., Wang, J. Z., Entezam, A., Truty, R., Nussbaum, R. L., McNally, E. M., & Aradhya, S. (2020). Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders. Neurology. Genetics, 6(2), e412. https://doi.org/10.1212/NXG.0000000000000412
Winder, Thomas L, et al. "Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders." Neurology. Genetics vol. 6,2 (2020): e412. doi: https://doi.org/10.1212/NXG.0000000000000412
Winder TL, Tan CA, Klemm S, White H, Westbrook JM, Wang JZ, Entezam A, Truty R, Nussbaum RL, McNally EM, Aradhya S. Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders. Neurol Genet. 2020 Mar 09;6(2):e412. doi: 10.1212/NXG.0000000000000412. eCollection 2020 Apr. PMID: 32337338; PMCID: PMC7164976.
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Genetic profiling for risk reduction in human cardiovascular disease.

Genes

Puckelwartz MJ, McNally EM.
PMID: 24705294
Genes (Basel). 2014 Mar 12;5(1):214-34. doi: 10.3390/genes5010214.

Cardiovascular disease is a major health concern affecting over 80,000,000 people in the U.S. alone. Heart failure, cardiomyopathy, heart rhythm disorders, atherosclerosis and aneurysm formation have significant heritable contribution. Supported by familial aggregation and twin studies, these cardiovascular diseases...

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Puckelwartz MJ, McNally EM. Genetic profiling for risk reduction in human cardiovascular disease. Genes (Basel). 2014;5(1):214-34doi: 10.3390/genes5010214.
Puckelwartz, M. J., & McNally, E. M. (2014). Genetic profiling for risk reduction in human cardiovascular disease. Genes, 5(1), 214-34. https://doi.org/10.3390/genes5010214
Puckelwartz, Megan J, and McNally, Elizabeth M. "Genetic profiling for risk reduction in human cardiovascular disease." Genes vol. 5,1 (2014): 214-34. doi: https://doi.org/10.3390/genes5010214
Puckelwartz MJ, McNally EM. Genetic profiling for risk reduction in human cardiovascular disease. Genes (Basel). 2014 Mar 12;5(1):214-34. doi: 10.3390/genes5010214. PMID: 24705294; PMCID: PMC3978520.
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Genetic correction strategies for Duchenne Muscular Dystrophy and their impact on the heart.

Progress in pediatric cardiology

Johnston JR, McNally EM.
PMID: 34898968
Prog Pediatr Cardiol. 2021 Dec;63. doi: 10.1016/j.ppedcard.2021.101460. Epub 2021 Nov 02.

BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder with early childhood onset characterized by profound loss of muscle strength and associated cardiomyopathy. DMD affects is most often caused by deletions involving single or multiple exons that disrupt...

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Johnston JR, McNally EM. Genetic correction strategies for Duchenne Muscular Dystrophy and their impact on the heart. Prog Pediatr Cardiol. 2021;63doi: 10.1016/j.ppedcard.2021.101460.
Johnston, J. R., & McNally, E. M. (2021). Genetic correction strategies for Duchenne Muscular Dystrophy and their impact on the heart. Progress in pediatric cardiology, 63. https://doi.org/10.1016/j.ppedcard.2021.101460
Johnston, Jamie R, and McNally, Elizabeth M. "Genetic correction strategies for Duchenne Muscular Dystrophy and their impact on the heart." Progress in pediatric cardiology vol. 63 (2021). doi: https://doi.org/10.1016/j.ppedcard.2021.101460
Johnston JR, McNally EM. Genetic correction strategies for Duchenne Muscular Dystrophy and their impact on the heart. Prog Pediatr Cardiol. 2021 Dec;63. doi: 10.1016/j.ppedcard.2021.101460. Epub 2021 Nov 02. PMID: 34898968; PMCID: PMC8656413.
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Resealing and rebuilding injured muscle.

Science (New York, N.Y.)

McNally EM, Demonbreun AR.
PMID: 34648349
Science. 2021 Oct 15;374(6565):262-263. doi: 10.1126/science.abm2240. Epub 2021 Oct 14.

[Figure: see text].

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McNally EM, Demonbreun AR. Resealing and rebuilding injured muscle. Science. 2021;374(6565):262-263doi: 10.1126/science.abm2240.
McNally, E. M., & Demonbreun, A. R. (2021). Resealing and rebuilding injured muscle. Science (New York, N.Y.), 374(6565), 262-263. https://doi.org/10.1126/science.abm2240
McNally, Elizabeth M, and Demonbreun, Alexis R. "Resealing and rebuilding injured muscle." Science (New York, N.Y.) vol. 374,6565 (2021): 262-263. doi: https://doi.org/10.1126/science.abm2240
McNally EM, Demonbreun AR. Resealing and rebuilding injured muscle. Science. 2021 Oct 15;374(6565):262-263. doi: 10.1126/science.abm2240. Epub 2021 Oct 14. PMID: 34648349.
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Cardiac function in muscular dystrophy associates with abdominal muscle pathology.

Journal of neuromuscular diseases

Gardner BB, Swaggart KA, Kim G, Watson S, McNally EM.
PMID: 26029630
J Neuromuscul Dis. 2015;2(1):39-49. doi: 10.3233/JND-140062.

BACKGROUND: The muscular dystrophies target muscle groups differentially. In mouse models of muscular dystrophy, notably the METHODS: Using a mouse model of limb girdle muscular dystrophy, the FINDINGS: The abdominal muscles were found to have more fibrosis than other...

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Gardner BB, Swaggart KA, Kim G, et al. Cardiac function in muscular dystrophy associates with abdominal muscle pathology. J Neuromuscul Dis. 2015;2(1):39-49doi: 10.3233/JND-140062.
Gardner, B. B., Swaggart, K. A., Kim, G., Watson, S., & McNally, E. M. (2015). Cardiac function in muscular dystrophy associates with abdominal muscle pathology. Journal of neuromuscular diseases, 2(1), 39-49. https://doi.org/10.3233/JND-140062
Gardner, Brandon B, et al. "Cardiac function in muscular dystrophy associates with abdominal muscle pathology." Journal of neuromuscular diseases vol. 2,1 (2015): 39-49. doi: https://doi.org/10.3233/JND-140062
Gardner BB, Swaggart KA, Kim G, Watson S, McNally EM. Cardiac function in muscular dystrophy associates with abdominal muscle pathology. J Neuromuscul Dis. 2015;2(1):39-49. doi: 10.3233/JND-140062. PMID: 26029630; PMCID: PMC4447317.
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BMP and WNT: the road to cardiomyocytes is paved with precise modulation.

Stem cell investigation

Quattrocelli M, McNally EM.
PMID: 27488191
Stem Cell Investig. 2016 Jun 15;3:21. doi: 10.21037/sci.2016.06.02. eCollection 2016.

No abstract available.

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Quattrocelli M, McNally EM. BMP and WNT: the road to cardiomyocytes is paved with precise modulation. Stem Cell Investig. 2016;3:21doi: 10.21037/sci.2016.06.02.
Quattrocelli, M., & McNally, E. M. (2016). BMP and WNT: the road to cardiomyocytes is paved with precise modulation. Stem cell investigation, 321. https://doi.org/10.21037/sci.2016.06.02
Quattrocelli, Mattia, and McNally, Elizabeth M. "BMP and WNT: the road to cardiomyocytes is paved with precise modulation." Stem cell investigation vol. 3 (2016): 21. doi: https://doi.org/10.21037/sci.2016.06.02
Quattrocelli M, McNally EM. BMP and WNT: the road to cardiomyocytes is paved with precise modulation. Stem Cell Investig. 2016 Jun 15;3:21. doi: 10.21037/sci.2016.06.02. eCollection 2016. PMID: 27488191; PMCID: PMC4958052.
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The attachment disorders of muscle: failure to carb-load.

The Journal of clinical investigation

McNally EM.
PMID: 22922262
J Clin Invest. 2012 Sep;122(9):3046-8. doi: 10.1172/JCI65483. Epub 2012 Aug 27.

Dystroglycan is a prominent cell surface protein that mediates attachment to the extracellular matrix. Although broadly expressed, glycosylated dystroglycan is critically important for muscle cell adherence to its surrounding matrix. A subgroup of muscular dystrophies, which often manifest in...

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McNally EM. The attachment disorders of muscle: failure to carb-load. J Clin Invest. 2012;122(9):3046-8doi: 10.1172/JCI65483.
McNally, E. M. (2012). The attachment disorders of muscle: failure to carb-load. The Journal of clinical investigation, 122(9), 3046-8. https://doi.org/10.1172/JCI65483
McNally, Elizabeth M. "The attachment disorders of muscle: failure to carb-load." The Journal of clinical investigation vol. 122,9 (2012): 3046-8. doi: https://doi.org/10.1172/JCI65483
McNally EM. The attachment disorders of muscle: failure to carb-load. J Clin Invest. 2012 Sep;122(9):3046-8. doi: 10.1172/JCI65483. Epub 2012 Aug 27. PMID: 22922262; PMCID: PMC3428106.
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Showing 1 to 9 of 9 entries