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Muscular Dystrophy: Scientific Articles

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Featured Articles

The following featured articles include those from NICHD researchers or NICHD-supported researchers:

  • Baudy, A. R., Reeves, E. K., Damsker, J. M., Heier, C., Garvin, L. M., Dillingham, B. C., et al. (2012). Δ-9,11 modification of glucocorticoids dissociates nuclear factor-κB inhibitory efficacy from glucocorticoid response element-associated side effects. The Journal of Pharmacology and Experimental Therapeutics, 343(1), 225–232. PMID: 22743576
  • Bello, L., Piva, L., Barp, A., Taglia, A., Picillo, E., Vasco, G., et al. (2012). Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology, 79(2), 159–162. PMID: 22744661
  • Bendixen, R. M., Senesac, C., Lott, D. J., & Vandenborne, K. (2012). Participation and quality of life in children with Duchenne muscular dystrophy using the International Classification of Functioning, Disability, and Health. Health and Quality of Life Outcomes, 22(10), 43. PMID: 22545870
  • Dwyer, C. A., Baker, E., Hu, H., & Matthews, R. T. (2012). RPTPζ/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1. Neuroscience, 220, 47–61. PMID: 22728091
  • Geng, L. N., Yao, Z., Snider, L., Fong, A. P., Cech, J. N., Young, J. M., et al. (2012). DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Developmental Cell, 22(1), 38–51. PMID: 22209328
  • Goody, M. F., Kelly, M. W., Reynolds, C. J., Khalil, A., Crawford, B. D., & Henry, C. A. (2012). NAD+ biosynthesis ameliorates a zebrafish model of muscular dystrophy. PLoS Biology, 10(10), e1001409. PMID: 23109907
  • Homma, S., Chen, J. C., Rahimov, F., Beermann, H. L., Hanger, K., Bibat, G. M., et al. (2012). A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: Family, disease and cell function. European Journal of Human Genetics, 20, 404–410. PMID: 22108603
  • Jones, T. I., Chen, J. C., Rahimov, F., Homma, S., Arashiro, P., Beermann, M. L., et al. (2012). Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. Human Molecular Genetics, 21(20), 4419–4430. PMID: 22798623
  • Kornegay, J. N., Bogan, J. R., Bogan, D. J., Childers, M. K., Li, J., Nghiem, P., et al. (2012). Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies. Mammalian Genome, 23, 85–108. PMID: 22218699
  • Loh, K. C., Leong, W. I., Carlson, M. E., Oskouian, B., Kumar, A., Fyrst, H., et al. (2012). Sphingosine-1-phosphate enhances satellite cell activation in dystrophic muscles through a S1PR2/STAT3 signaling pathway. PLoS One, 7(5), e37218. PMID: 22606352
  • Manzini, M. C., Tambunan, D. E., Hill, R. S., Yu, T. W., Maynard, T. M., Heinzen, E. L., et al. (2012). Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. American Journal of Human Genetics, 91(3), 541–547. PMID: 22958903
  • Mendell, J. R., Shilling, C., Leslie, N. D., Flanigan, K. M., al-Dahhak, R., Gastier-Foster, J., et al. (2012). Evidence-based path to newborn screening for Duchenne muscular dystrophy. Annals of Neurology, 71(3), 304–313. PMID: 22451200
  • Mitsuhashi, H., Mitsuhashi, S., Lynn-Jones, T., Kawahara, G., & Kunkel, L. M. (2012). Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. Human Molecular Genetics, 22(3), 568–577. PMID: 23108159
  • Motohashi, N., Alexander, M. S., Casar, J. C., & Kunkel, L. M. (2012). Identification of a novel microRNA that regulates the proliferation and differentiation in muscle side population cells. Stem Cells and Development, 21(16), 3031–3043. PMID: 22541023
  • Piva, L., Gavassini, B. F., Bello, L., Fanin, M., Soraru, G., Barp, A., et al. (2012). TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle. The Journal of Pathology, 228(2), 251–259. PMID: 22431140
  • Qiu, K., Falk, D. J., Reier, P. J., Byrne, B. J., & Fuller, D. D. (2012). Spinal delivery of AAV vector restores enzyme activity and increases ventilation in Pompe mice. Molecular Therapy: The Journal of the American Society of Gene Therapy, 20(1), 21–27. PMID: 22008916
  • Rahimov, F., King, O. D., Leung, D. G., Bibat, G. M., Emerson, C. P. Jr., Kunkel, L. M., & Wagner, K. R. (2012).Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers. Proceedings of the National Academy of Sciences of the United States of America, 109(40), 16234–16239. PMID: 22988124
  • Reed, P. W., Densmore, A., & Bloch, R. J. (2012). Optimization of large gel 2D electrophoresis for proteomic studies of skeletal muscle. Electrophoresis, 33(8), 1263–1270. PMID: 22589104
  • Reeves, E. K., Rayavarapu, S., Damsker, J. M., & Nagaraju, K. (2012). Glucocorticoid analogues: potential therapeutic alternatives for treating inflammatory muscle diseases. Endocrine, Metabolic & Immune Disorders Drug Targets, 12(1), 95–103. PMID: 22214335
  • Rutkowski, A., Bönnemann, C., Brown, S., Thorsteinsdóttir, S., Dominov, J., Ruegg, M. A., et al. (2012). Report on the Myomatrix Conference April 22–24, 2012, University of Nevada, Reno, Nevada, USA. Neuromuscular Disorders, 23(2), 188–191. PMID: 22800409
  • Sarparanta, J., Jonson, P. H., Golzio, C., Sandell, S., Luque, H., Screen, M., et al. (2012). Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nature Genetics, 44(4), 450–455, S1–S2. PMID: 22366786
  • Yoshida, T., Molton, I. R., Jensen, M. P., Nakamura, T., Arimura, T., Kubo, C., & Hosoi, M. (2012). Cognitions, metacognitions, and chronic pain. Rehabilitation Psychology, 57(3), 207–213. PMID: 22946608
  • Zhang, P., & Hu, H. (2012). Differential glycosylation of α-dystroglycan and proteins other than α-dystroglycan by like-glycosyltransferase. Glycobiology, 22(2), 235–247. PMID: 21930648
  • Bish, L. T., Yarchoan, M., Sleeper, M. M., Gazzara, J. A., Morine, K. J., Acosta, P., et al. (2011). Chronic losartan administration reduces mortality and preserves cardiac but not skeletal muscle function in dystrophic mice. PLoS ONE, 6, e20856. doi:10.1371/journal.pone.0020856 PMID: 21731628
  • Demonbreun, A. R., Fahrenbach, J. P., Deveaux, K., Earley, J. U., Pytel, P., & McNally E. M. (2011). Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophy. Human Molecular Genetics, 20, 779-–789. PMID: 21127009
  • Hara, Y., Balci-Hayta, B., Yoshida-Moriguchi , T., Kanagawa, M., Beltrán-Valero de Bernabé, D., Gündesli, H., et al. (2011). A dystroglycan mutation associated with limb-girdle muscular dystrophy. New England Journal of Medicine, 364, 939–-946. PMID: 21388311
  • Goldstein, J. A., Kelly, S. M., LoPresti, P. P., Heydemann, A., Earley, J. U., Ferguson, E. L., et al. (2010). SMAD signaling drives heart and muscle dysfunction in a Drosophila model of muscular dystrophy. Human Molecular Genetics, 20, 894–-904. PMID: 21138941

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Last Updated Date: 03/28/2014
Last Reviewed Date: 12/06/2013
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology