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Showing 1 to 12 of 23 entries
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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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Mammalian Mss51 is a skeletal muscle-specific gene modulating cellular metabolism.

Journal of neuromuscular diseases

Moyer AL, Wagner KR.
PMID: 26634192
J Neuromuscul Dis. 2015;2(4):371-385. doi: 10.3233/JND-150119. Epub 2015 Sep 21.

No abstract available.

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Moyer AL, Wagner KR. Mammalian Mss51 is a skeletal muscle-specific gene modulating cellular metabolism. J Neuromuscul Dis. 2015;2(4):371-385doi: 10.3233/JND-150119.
Moyer, A. L., & Wagner, K. R. (2015). Mammalian Mss51 is a skeletal muscle-specific gene modulating cellular metabolism. Journal of neuromuscular diseases, 2(4), 371-385. https://doi.org/10.3233/JND-150119
Moyer, Adam L, and Wagner, Kathryn R. "Mammalian Mss51 is a skeletal muscle-specific gene modulating cellular metabolism." Journal of neuromuscular diseases vol. 2,4 (2015): 371-385. doi: https://doi.org/10.3233/JND-150119
Moyer AL, Wagner KR. Mammalian Mss51 is a skeletal muscle-specific gene modulating cellular metabolism. J Neuromuscul Dis. 2015;2(4):371-385. doi: 10.3233/JND-150119. Epub 2015 Sep 21. PMID: 26634192; PMCID: PMC4664537.
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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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Leg muscle MRI in identical twin boys with duchenne muscular dystrophy.

Muscle & nerve

Willcocks RJ, Triplett WT, Lott DJ, Forbes SC, Batra A, Sweeney HL, Mendell JR, Vandenborne K, Walter GA.
PMID: 29365354
Muscle Nerve. 2018 Jan 24; doi: 10.1002/mus.26081. Epub 2018 Jan 24.

No abstract available.

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Willcocks RJ, Triplett WT, Lott DJ, et al. Leg muscle MRI in identical twin boys with duchenne muscular dystrophy. Muscle Nerve. 2018;doi: 10.1002/mus.26081.
Willcocks, R. J., Triplett, W. T., Lott, D. J., Forbes, S. C., Batra, A., Sweeney, H. L., Mendell, J. R., Vandenborne, K., & Walter, G. A. (2018). Leg muscle MRI in identical twin boys with duchenne muscular dystrophy. Muscle & nerve, . https://doi.org/10.1002/mus.26081
Willcocks, Rebecca J, et al. "Leg muscle MRI in identical twin boys with duchenne muscular dystrophy." Muscle & nerve vol. (2018). doi: https://doi.org/10.1002/mus.26081
Willcocks RJ, Triplett WT, Lott DJ, Forbes SC, Batra A, Sweeney HL, Mendell JR, Vandenborne K, Walter GA. Leg muscle MRI in identical twin boys with duchenne muscular dystrophy. Muscle Nerve. 2018 Jan 24; doi: 10.1002/mus.26081. Epub 2018 Jan 24. PMID: 29365354; PMCID: PMC6057851.
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A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKIIβ Signaling in Limb Girdle Muscular Dystrophy.

Cell reports. Medicine

Liu J, Campagna J, John V, Damoiseaux R, Mokhonova E, Becerra D, Meng H, McNally EM, Pyle AD, Kramerova I, Spencer MJ.
PMID: 33205074
Cell Rep Med. 2020 Oct 20;1(7):100122. doi: 10.1016/j.xcrm.2020.100122. eCollection 2020 Oct 20.

Mutations in

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Liu J, Campagna J, John V, et al. A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKIIβ Signaling in Limb Girdle Muscular Dystrophy. Cell Rep Med. 2020;1(7):100122doi: 10.1016/j.xcrm.2020.100122.
Liu, J., Campagna, J., John, V., Damoiseaux, R., Mokhonova, E., Becerra, D., Meng, H., McNally, E. M., Pyle, A. D., Kramerova, I., & Spencer, M. J. (2020). A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKIIβ Signaling in Limb Girdle Muscular Dystrophy. Cell reports. Medicine, 1(7), 100122. https://doi.org/10.1016/j.xcrm.2020.100122
Liu, Jian, et al. "A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKIIβ Signaling in Limb Girdle Muscular Dystrophy." Cell reports. Medicine vol. 1,7 (2020): 100122. doi: https://doi.org/10.1016/j.xcrm.2020.100122
Liu J, Campagna J, John V, Damoiseaux R, Mokhonova E, Becerra D, Meng H, McNally EM, Pyle AD, Kramerova I, Spencer MJ. A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKIIβ Signaling in Limb Girdle Muscular Dystrophy. Cell Rep Med. 2020 Oct 20;1(7):100122. doi: 10.1016/j.xcrm.2020.100122. eCollection 2020 Oct 20. PMID: 33205074; PMCID: PMC7659555.
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Modeling Human Dilated Cardiomyopathy Using Humans.

JACC. Basic to translational science

Gacita AM, Puckelwartz MJ, McNally EM.
PMID: 30623133
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.

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Gacita AM, Puckelwartz MJ, McNally EM. Modeling Human Dilated Cardiomyopathy Using Humans. JACC Basic Transl Sci. 2018;3(6):741-743doi: 10.1016/j.jacbts.2018.11.005.
Gacita, A. M., Puckelwartz, M. J., & McNally, E. M. (2018). Modeling Human Dilated Cardiomyopathy Using Humans. JACC. Basic to translational science, 3(6), 741-743. https://doi.org/10.1016/j.jacbts.2018.11.005
Gacita, Anthony M, et al. "Modeling Human Dilated Cardiomyopathy Using Humans." JACC. Basic to translational science vol. 3,6 (2018): 741-743. doi: https://doi.org/10.1016/j.jacbts.2018.11.005
Gacita AM, Puckelwartz MJ, McNally EM. Modeling Human Dilated Cardiomyopathy Using Humans. JACC Basic Transl Sci. 2018 Dec 31;3(6):741-743. doi: 10.1016/j.jacbts.2018.11.005. eCollection 2018 Dec. PMID: 30623133; PMCID: PMC6314970.
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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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A proteasome inhibitor fails to attenuate dystrophic pathology in mdx mice.

PLoS currents

Selsby J, Morris C, Morris L, Sweeney L.
PMID: 22866241
PLoS Curr. 2012 May 29;e4f84a944d8930. doi: 10.1371/4f84a944d8930.

Dystrophin deficiency leads to increased proteasome activity in skeletal muscle. Previous observations suggest short-term inhibition of the proteasome restores dystrophin expression. Contrary to our hypothesis, eight days of MG-132 administration to mdx mice increased susceptibility to contraction induced injury...

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Selsby J, Morris C, Morris L, et al. A proteasome inhibitor fails to attenuate dystrophic pathology in mdx mice. PLoS Curr. 2012;e4f84a944d8930doi: 10.1371/4f84a944d8930.
Selsby, J., Morris, C., Morris, L., & Sweeney, L. (2012). A proteasome inhibitor fails to attenuate dystrophic pathology in mdx mice. PLoS currents, e4f84a944d8930. https://doi.org/10.1371/4f84a944d8930
Selsby, Joshua, et al. "A proteasome inhibitor fails to attenuate dystrophic pathology in mdx mice." PLoS currents vol. (2012): e4f84a944d8930. doi: https://doi.org/10.1371/4f84a944d8930
Selsby J, Morris C, Morris L, Sweeney L. A proteasome inhibitor fails to attenuate dystrophic pathology in mdx mice. PLoS Curr. 2012 May 29;e4f84a944d8930. doi: 10.1371/4f84a944d8930. PMID: 22866241; PMCID: PMC3392143.1.
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Meeting Report: New Directions in the Biology and Disease of Skeletal Muscle 2014.

Journal of neuromuscular diseases

Wyatt EJ, Sweeney HL, McNally EM.
PMID: 26207203
J Neuromuscul Dis. 2014 Jan 01;1(2):197-206. doi: 10.3233/JND-149003.

The New Directions in the Biology and Disease of Skeletal Muscle is a scientific meeting, held every other year, with the stated purpose of bringing together scientists, clinicians, industry representatives and patient advocacy groups to disseminate new discovery useful...

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Wyatt EJ, Sweeney HL, McNally EM. Meeting Report: New Directions in the Biology and Disease of Skeletal Muscle 2014. J Neuromuscul Dis. 2014;1(2):197-206doi: 10.3233/JND-149003.
Wyatt, E. J., Sweeney, H. L., & McNally, E. M. (2014). Meeting Report: New Directions in the Biology and Disease of Skeletal Muscle 2014. Journal of neuromuscular diseases, 1(2), 197-206. https://doi.org/10.3233/JND-149003
Wyatt, Eugene J, et al. "Meeting Report: New Directions in the Biology and Disease of Skeletal Muscle 2014." Journal of neuromuscular diseases vol. 1,2 (2014): 197-206. doi: https://doi.org/10.3233/JND-149003
Wyatt EJ, Sweeney HL, McNally EM. Meeting Report: New Directions in the Biology and Disease of Skeletal Muscle 2014. J Neuromuscul Dis. 2014 Jan 01;1(2):197-206. doi: 10.3233/JND-149003. PMID: 26207203; PMCID: PMC4508866.
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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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Student Satisfaction and Learning Outcomes in Asynchronous Online Lecture Videos.

CBE life sciences education

Choe RC, Scuric Z, Eshkol E, Cruser S, Arndt A, Cox R, Toma SP, Shapiro C, Levis-Fitzgerald M, Barnes G, Crosbie RH.
PMID: 31675279
CBE Life Sci Educ. 2019 Dec;18(4):ar55. doi: 10.1187/cbe.18-08-0171.

Our study identified online lecture video styles that improved student engagement and satisfaction, while maintaining high learning outcomes in online education. We presented different lecture video styles with standardized material to students and then measured learning outcomes and satisfaction...

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Choe RC, Scuric Z, Eshkol E, et al. Student Satisfaction and Learning Outcomes in Asynchronous Online Lecture Videos. CBE Life Sci Educ. 2019;18(4):ar55doi: 10.1187/cbe.18-08-0171.
Choe, R. C., Scuric, Z., Eshkol, E., Cruser, S., Arndt, A., Cox, R., Toma, S. P., Shapiro, C., Levis-Fitzgerald, M., Barnes, G., & Crosbie, R. H. (2019). Student Satisfaction and Learning Outcomes in Asynchronous Online Lecture Videos. CBE life sciences education, 18(4), ar55. https://doi.org/10.1187/cbe.18-08-0171
Choe, Ronny C, et al. "Student Satisfaction and Learning Outcomes in Asynchronous Online Lecture Videos." CBE life sciences education vol. 18,4 (2019): ar55. doi: https://doi.org/10.1187/cbe.18-08-0171
Choe RC, Scuric Z, Eshkol E, Cruser S, Arndt A, Cox R, Toma SP, Shapiro C, Levis-Fitzgerald M, Barnes G, Crosbie RH. Student Satisfaction and Learning Outcomes in Asynchronous Online Lecture Videos. CBE Life Sci Educ. 2019 Dec;18(4):ar55. doi: 10.1187/cbe.18-08-0171. PMID: 31675279; PMCID: PMC6829069.
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Disease-modifying effects of orally bioavailable NF-.

JCI insight

Hammers DW, Sleeper MM, Forbes SC, Coker CC, Jirousek MR, Zimmer M, Walter GA, Sweeney HL.
PMID: 28018975
JCI Insight. 2016 Dec 22;1(21):e90341. doi: 10.1172/jci.insight.90341.

Duchenne muscular dystrophy (DMD) is a devastating muscle disease characterized by progressive muscle deterioration and replacement with an aberrant fatty, fibrous matrix. Chronic upregulation of nuclear factor κB (NF-κB) is implicated as a driver of the dystrophic pathogenesis. Herein,...

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Hammers DW, Sleeper MM, Forbes SC, et al. Disease-modifying effects of orally bioavailable NF-. JCI Insight. 2016;1(21):e90341doi: 10.1172/jci.insight.90341.
Hammers, D. W., Sleeper, M. M., Forbes, S. C., Coker, C. C., Jirousek, M. R., Zimmer, M., Walter, G. A., & Sweeney, H. L. (2016). Disease-modifying effects of orally bioavailable NF-. JCI insight, 1(21), e90341. https://doi.org/10.1172/jci.insight.90341
Hammers, David W, et al. "Disease-modifying effects of orally bioavailable NF-." JCI insight vol. 1,21 (2016): e90341. doi: https://doi.org/10.1172/jci.insight.90341
Hammers DW, Sleeper MM, Forbes SC, Coker CC, Jirousek MR, Zimmer M, Walter GA, Sweeney HL. Disease-modifying effects of orally bioavailable NF-. JCI Insight. 2016 Dec 22;1(21):e90341. doi: 10.1172/jci.insight.90341. PMID: 28018975; PMCID: PMC5161210.
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Showing 1 to 12 of 23 entries