David Geffen School of Medicine at UCLA
Spencer Laboratory

Select Publications

  1. Spencer, M. J., Marino, M., and Winckler, W. (2000). Altered pathological progression of diaphragm and quadriceps muscle in TNF-deficient, dystrophin-deficient mice. Neuromuscular Disorders, 10(8), 612-619. 20. Spencer, M. J., Montecino-Rodriguez, E., Dorshkind, K., and Tidball, J. G. (2001). CD4+ (helper) and CD8+ (cytotoxic) T cells promote the pathology of dystrophin-deficient muscle. Clinical Immunology, 98(2), 235-243.
  2. Wehling, M., Spencer, M. J., and Tidball, J. G. (2001). A nitric oxide synthase transgene ameliorates muscular dystrophy in the mdx mouse. Journal of Cell Biology, 155 (1),1-10.
  3. Taveau, M., Stockholm, D., Spencer, M. J., and Richard, I (2001). Quantification of splice variants using molecular beacon or scorpion primers. Analytical Biochemistry, 305(2), 227-235.
  4. Spencer, M. J., Potts, A., Herasse, M., Richard, I., Chamberlain, J., Sorimachi, H., Guyon, J., Kunkel, L., and Beckmann, J. S. (2002). Stable expression of calpain 3 from a muscle transgene in vivo: Immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation. Proceedings of the National Academy of Sciences, 99(13), 8874-8879.
  5. Spencer, M. J., and Mellgren, R. L. (2002). Overexpression of a calpastatin transgene improves dystrophic pathology. Human Molecular Genetics, 11(21), 2645-2655.
  6. Tidball, J. G., and Spencer, M. J. (2002). Expression of a calpastatin transgene slows muscle wasting and obviates changes in myosin isoform expression during mouse muscle disuse. Journal of Physiology, 545(3), 819-828.
  7. Hodgetts, S. I., Spencer, M. J., and Grounds, M. D. (2003). A role for natural killer cells in the rapid death of cultured donor myoblasts after transplantation. Transplantation, 75(6), 863-871.
  8. Gosselin, L. E., Barkley, J. E., Spencer, M. J., McCormick, K. M., and Farkas, G. A. (2003). Ventilatory dysfunction in dystrophic (mdx) mice: Impact of tumor necrosis factor-a deletion. Muscle and Nerve, 28(3), 336-343.
  9. Guyon, J. R., Potts, A., Kudryoshova, E., Beckmann, J. S., Kunkel, L. M., and Spencer M. J. (2003). Calpain 3 cleaves filamin C and regulates its ability to interact with g and d sarcoglycans. Muscle and Nerve, 28(4), 472-483.
  10. Kent, M. P., Spencer, M. J., Koohmaraie, M. (2004). Postmortem proteolysis is reduced in transgenic mice overexpressing calpastatin. Journal of Animal Sciences, 82(3), 794-801.
  11. Fowler, E. C., Graves, M. C., Wetzel, G. T., and Spencer, M. J. (2004). Pilot trial of albuterol in Duchenne muscular dystrophy. Neurology, 62, 1006-1008.
  12. Kramerova, I., Kudryashova, E., Tidball, J. G., and Spencer, M. J. (2004). Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro. Human Molecular Genetics, 13(13), 1373-1388.
  13. Huebsch, K. A., Kudryashova, E., Wooley, C. M., Sher, R. B., Seburn, K. L., Spencer, M. J., and Cox, G. C. (2005). Mdm muscular dystrophy is not a result of aberrant CAPN3 activation but reveals a novel functional role for titin’s N2A domain. Human Molecular Genetics, Oct 1; 14(19), 2801-2811. PMCID: PMC1350399.
  14. Kramerova, I., Kudryashova, E., Venkatraman G., and Spencer, M. J. (2005). Calpain 3 is involved in sarcomere remodeling in vivo by promoting ubiquitination of muscle proteins. Human Molecular Genetics, 14(15), 2125-2134.
  15. Kudryashova, E., Kudryashov, D., Kramerova, I., and Spencer, M. J. (2005). Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates Actin. Journal of Molecular Biology, Nov 25; 354(2), 413-424.
  16. Nazarian, R., Starcevic, M., Spencer, M. J., Dell'Angelica, E. C. (2006). Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein. Biochemical Journal, May 1; 395(3), 587-598. PMCID: PMC1462696.
  17. Cohen, N., Kudryashova, E., Kramerova, I., Anderson, L. V. B., Beckmann, J. S., Bushby, K. M., and Spencer, M. J. (2006). Identification of putative in vivo substrates of calpain 3 by comparative proteomics of over-expressing transgenic and non-transgenic mice. Proteomics, Nov; 6(22), 6075-6084.
  18. Kramerova, I., Kudryashova, E., and Spencer, M. J. (2006). Regulation of M-cadherin--catenin complex by calpain 3 during terminal stages of myogenic differentiation. Molecular Cellular Biology, Nov; 26(22), 8437-8447.
  19. Groshong, J. S., Spencer, M. J., Bhattacharyya, B. J., Kudryashova, E., Vohra, B. P., Zayas, R., Wollmann, R. L., Miller, R. J., Gomez, C. M. (2007). Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome. Journal of Clinical Investigation, Oct;117(10), 2903-2912. PMCID: PMC1974862.
  20. Skura, C. L., Fowler, E. G., Wetzel, G. T., Graves, M. G., and Spencer, M. J. (2008). Albuterol increases lean body mass in ambulatory boys with Duchenne or Becker muscular dystrophy. Neurology, Jan 8; 70(2), 137-143. Epub 2007 Oct 17.
  21. Kramerova, I., Kudryashova, E., Wu, B., Ottenheijm, C., Granzier, H., and Spencer, M. J. (2008). Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle. Human Molecular Genetics, Nov 1; 17(21), 3271-3280. PMCID: PMC2566524.
  22. Kudryashova, E., Wu, J., Havton, L., and Spencer, M. J. (2009). Deficiency of the E3 ubiquitin ligase Trim32 in mice leads to a myopathy with a neurogenic component. Human Molecular Genetics, Apr 1; 18(7), 1353-1367. PMCID: PMC2722196.
  23. Vetrone, S. A., Montecino-Rodriguez, E., Kudryashova, E., Kramerova, I., Hoffman, EP., Liu, SD., Miceli, M.C and Spencer, MJ. (2009). Osteopontin promotes fibrosis in dystrophic muscle by modulation of immune cell subsets and intramuscular TGFbeta. Journal of Clinical Investigation, June; 119(6), 1583- 1594. PMCID: PMC2689112.
  24. Kramerova, I., Kudryashova, E., Wu, B., Germain, S., Vandenborne, K., Romain, N., Haller, R., Verity, M. A., and Spencer, M. J. (2009). Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle. Human Molecular Genetics, Sep 1; 18(17), 3194-3205. PMCID: PMC2722983.
  25. Mellgren, R. L., Miyake, K., Kramerova, I., Spencer, M.J., Bourg, N., Bartoli, M., Richard, I., Greer, P. A., McNeil, P. L. (2009). Calcium-dependent plasma membrane repair requires m- or mu-calpain, but not calpain-3, the proteasome, or caspases. Biochimica et Biophysica Acta, Dec; 1793(12),1886-1893. PMCID: PMC2787696.
  26. Kim, M. H., Kay, D. I., Rudra, R. T., Chen, B. M., Hsu, N., Izumiya, Y., Martinez, L., Spencer, M. J., Walsh, K., Grinnell, A.D., Crosbie, R. H. (2011). Myogenic Akt signaling attenuates muscular degeneration, promotes myofiber regeneration and improves muscle function in dystrophin-deficient mdx mice. Human Molecular Genetics, Apr 1; 20(7),1324-1338. Epub 2011 Jan 18. PMCID: PMC3049356.
  27. Ermolova, N., Kudryashova, E., DiFranco, M., Vergara, J., Kramerova, I., and Spencer, M. J. (2011). Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3. Human Molecular Genetics, Sept 1; 20(17), 3331-3345. Epub 2011 May 30. PMCID: PMC3153300.
  28. Kudryashova, E., Stryk, A., Cannon, S. C., and Spencer, M. J. (2011). The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype. Human Molecular Genetics, Oct 15;20(20):3925- 3932. PMCID: PMC3177646 [Available on 2012/10/15].
  29. Kudryashova, E., Kramerova, I., and Spencer. M. J. (2012). Satellite cell senescence underlies the myopathy in a mouse model of limb girdle muscular dystrophy 2H. Journal of Clinical Investigation, May 1; 122(5),1764-1776. PMCID: PMC3336976.
  30. Kramerova, I., Kudryashova, E., Saez, A., Lopez de Munain, A., Ermolova, N., and Spencer, M. J. (2012). Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3. Human Molecular Genetics, Jul 15; 21(14),3193-204. Epub 2012 Apr 14. [PubMed - in process].
  31. Jaka, O., Kramerova, I., Azpitarte, M., Lopez de Munain, A., Spencer, M. J., and Saenz, A. (2012). C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging . Neurogenetics, Jul 22. [Epub ahead of print]. DOI: 10.1007/s10048-012-0336-7.
  32. Chao, L. C., Wroblewski, K., Ilkayeva, O. R., Stevens, R. D., Bain, J., Meyer, G. A., Schenk, S., Martinez, L., Vergnes, L., Narkar, V. A., Drew, B. G., Hong, C., Boyadjian, R., Hevener, A. L., Evans, R. M., Reue, K., Spencer, M. J., Newgard, C. B., Tontonoz, P. (2012). Skeletal muscle Nur77 expression enhances oxidative metabolism and substrate utilization. Journal of Lipid Research, Oct 1. [Epub ahead of print] [PubMed - as supplied by publisher]
  33. Kendall, G. C., Mokhonova, E. I., Moran, M., Sejbuk, N. E., Wang, D. W, Silva, O., Wang, R. T., Martinez, L., Lu, Q. L., Damoiseaux, R., *Spencer, M. J., *Nelson, S. F., *Miceli, M. C. (2012). Dantrolene enhances antisense-mediated exon skipping in human and mouse models of Duchenne muscular dystrophy. Science Translational Medicine, 4(166):164ra160 DOI: 10.1126/scitranslmed.3005054
    *Co-senior authors
  34. Ermolova, N.V., Martinez, L. Vetrone, S.A. Jordan, M. C. Roos, K. P. Sweeney H.L. and Spencer M.J. (2014), Long-term administration of the TNF blocking drug Remicade (cV1q) to mdx mice reduces skeletal and cardiac muscle fibrosis, but negatively impacts cardiac function. Neuromuscular Disorders Jul;24(7):583-95.
  35. Villalta, S.A., Rosenthal, W. Martinez, L. Kaur, A. Sparwasser, T. Tidball, J.G. Margeta, M. Spencer, M.J., Bluestone, J.A. Regulatory T cells suppress muscle inflammation and injury during muscular dystrophy. (2014) Science Translational Medicine Oct 15(6):258.
  36. Ermolova, N.V., Kramerova, I. Spencer, M.J. Autolytic activation of calpain 3 is facilitated by calmodulin. (2014) Journal of Biological Chemistry Jan 9;290(2):996-1004.
  37. Mokhonova, E, Avliyakulov,N.K., Kramerova,I. Kudryashova,E. Haykinson,M. Spencer,M.J. (2015) The E3 ubiquitin ligase TRIM32 regulates myoblast proliferation by controlling turnover of NDRG2. Human Molecular Genetics 15;24(10):2873-83.
  38. Martinez L, Ermolova NV, Ishikawa TO, Stout DB, Herschman HR, Spencer MJ. (2015) A reporter mouse for optical imaging of inflammation in mdx muscles. Skeletal Muscle. 5:15.
  39. DiFranco, M., Kramerova, I., Vergara, J. L., Spencer, M.J. (2015) Attenuated Ca2+ Release in a Mouse Model of Limb Girdle Muscular Dystrophy 2A. Skeletal Muscle 2016 Feb 24;6:11. doi: 10.1186/s13395- 016-0081-y. eCollection 2016.
  40. Young, CS, Hicks,MR, Ermolova,NV, Nakano, H, Jan, M, Younesi, S, Karumbayaram, S, Kumagai- Cresse, C, Wang,D, Zack, J, Kohn, DB, Nakano, A, Nelson,SF, Miceli,MC, Spencer,MJ*, Pyle, AD* (2016) A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells. Cell Stem Cell 2016 Apr 7;18(4):533-40. doi: 10.1016/j.stem.2016.01.021. Epub 2016 Feb 11.
    *Co-communicating authors
  41. Kramerova,I, Ermolova, N.V., Eskin, A, Hevener,A., Quehenberger, O., Haller, R. Roman, N, Barton,E. Sweeney, HL, Nelson, SL, Spencer, MJ. (2016) Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy). Hum Mol Genet. 2016 Jun 1;25(11):2194-2207. PubMed PMID: 27005420;
  42. Capote, J. Kramerova , I., Martinez,L. Vetrone, S., Barton, E.R. Sweeney, H.L., Miceli, M.C., Spencer,M.J. (2016) Osteopontin ablation ameliorates muscular dystrophy by skewing macrophage polarization towards a pro-regenerative phenotype J Cell Biol. 2016 Apr 25;213(2):275-88. doi: 10.1083/jcb.201510086. Epub 2016 Apr 18.
  43. Gibbs EM, Marshall JL, Ma E, Nguyen TM, Hong G, Lam JS, Spencer MJ, Crosbie-Watson RH. (2016) High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD. Hum Mol Genet. Oct 24 epub ahead of print.
  44. Quattrocelli M, Capote J, Ohiri JC, Warner JL, Vo AH, Earley JU, Hadhazy M, Demonbreun AR, Spencer MJ, McNally EM. Genetic modifiers of muscular dystrophy act on sarcolemmal resealing and recovery from injury. PLoS Genet. 2017 Oct 24;13(10):e1007070. doi: 10.1371/journal.pgen.1007070. eCollection 2017 Oct.
  45. Young, C.S., Mokhonova , E.,Quinonez , M.,Pyle,A, Spencer, M.J. (2017) Creation of a novel humanized dystrophic mouse model of Duchenne muscular dystrophy and application of a CRISPR/Cas9 gene editing therapy. J. Neuromuscular Diseases 4(2):139-145. doi: 10.3233/JND-170218.
  46. Yao,J. Guihard,P., Wu, X., Blazquez-Medela,A., Spencer, M.J., Jumabay, M., Tontonoz, P., Fogelman, A., Bostrom, K. and Yao, Y. Vascular Endothelium Plays a Key Role in Directing Pulmonary Epithelial Cell Differentiation" Journal of Cell Biology 2017 Oct 2;216(10):3369-3385.
  47. Hicks MR, Hiserodt J, Paras K, Fujiwara W, Eskin A, Jan M, Xi H, Young CS, Evseenko D, Nelson SF, Spencer MJ, Handel BV, Pyle AD. ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs. Nat Cell Biol. 2018 Jan;20(1):46-57. Epub 2017 Dec 18.
  48. Wang, D.W., Mokhonova, E.I., Kendall, G.C., Becerra, D. Naeini, Y.B. Cantor, R.M. Spencer, M.J., Nelson, S.F. and Miceli, M.C. Repurposing Dantrolene for Long-term Combination Therapy to Potentiate Antisense-Mediated DMD Exon-Skipping in the mdx mouse. Molecular Therapy Nucleic Acids, Mol Ther Nucleic Acids. 2018 Jun 1;11:180-191
  49. Gordish-Dressman, H. Willmann, R. Dalle Pazze, L. Kreibich, A. van Putten, M. Heydemann, A. Bodganik, L. Lutz, C. Davies, K. Demonbruen, A.R., Duan, D. Elsey, D. Fukada, A. Girgenrath, M. Gonzalez, P.J. Grounds, M.D., Nichols, A., Partridge, T. Passini, M. Sanarica, F., Schnell, F.J., Wells, D.J., Yokata, T., Young, C.S., Zhong, Z. Spurney, C., Spencer, M., De Luca, A., Aartsma-Rus, A. J. Of Mice and Measures: A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic Neuromuscul Dis. 2018;5(4):407-417.
  50. Ji Y, Liu X, Huang M, Jiang J, Liao YP, Liu Q, Chang CH, Liao H, Lu J, Wang X, Spencer MJ, Meng H. Development of self-assembled multi-arm polyrotaxanes nanocarrieres for systemic plasmid delivery in vivo. Biomaterials. 2018 Nov 16;192:416-428.
  51. Kramerova, I., Torres, JA, Eskin, A., Nelson, SF, Spencer, M.J. (2018) Calpain 3 and CaMKIIβ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy. Hum Mol Gen 1;27(9):1642-1653.
  52. Malik R, Meng H, Wongkongkathep P, Corrales CI, Sepanj N, Atlasi RS, Klärner FG, Schrader T, Spencer MJ, Loo JA, Wiedau M, Bitan G. The molecular tweezer CLR01 inhibits aberrant superoxide dismutase 1 (SOD1) self-assembly in vitro and in the G93A-SOD1 mouse model of ALS. J Biol Chem. 2019 Mar 8;294(10):3501-3513. doi: 10.1074/jbc.RA118.005940. Epub 2019 Jan 2.
  53. Emami, MR, Young,CS, Ji,Y, Liu,X, Mokhonova, E, Pyle,AD*, Meng,H*, and Spencer, M.J. (2019) Polyrotaxane nanocarriers can deliver CRISPR/Cas9 plasmid to dystrophic muscle cells to successfully edit the DMD gene. Advanced Therapeutics in press.
  54. Kramerova,I, Kumagai-Cresse, C, Ermolova, NV, Mokhonova,E Marinov,M, Capote,J, Becerra, D, Quattrocelli,M, Crosbie,R.H, Welch,E, McNally,EM, Spencer,MJ (2019) Osteopontin (Spp1) promotes TGFß processing in fibroblasts of dystrophin deficient muscles through matrix metalloproteinases. Human Molecular Genetics 2019 Aug 14. pii: ddz181. doi: 10.1093/hmg/ddz181.
  55. Xi, H, Langerman, J. Sabri, S. Chien, P. Young, C.S., Younesi, S. Hicks, M, Gonzalez, K. Fujiwara, W. Marzi, J. Liebscher, S. Spencer, M. Van Handel, B., Evseenko, D. Schenke-Layland, K., Plath, K. Pyle, A.D. (2020) A Human Skeletal Muscle Atlas Identifies the Trajectories of Stem and Progenitor Cells across Development and from Human Pluripotent Stem Cells [published online ahead of print, 2020 May 10]. Cell Stem Cell. S1934-5909(20)30156-9. doi:10.1016/j.stem.2020.04.017.
  56. González-Mera, L et al. Heterozygous CAPN3 missense variants segregating with autosomal-dominant calpainopathy in seven unrelated families. Neuropathology and Applied Neurobiology, Feb;47(2):283-296.
  57. Kramerova, I, Marinov, M, Owens, J, Lee, S, Becerra, D and Spencer, M.J. (2020) Myostatin inhibition promotes fast fiber hypertrophy but causes loss of AMPK signaling and poor exercise tolerance in a model of LGMD R1/2A" Journal of Physiology, Sep;598(18):3927-3939.
  58. Sengupta K, Mishra MK, Loro E, Spencer MJ, Pyle AD, Khurana TS. (2020) Genome editing-mediated utrophin upregulation in Duchenne muscular dystrophy stem cells. Mol Ther Nucleic Acids. Aug 29;22:500-509. doi: 10.1016/j.omtn.2020.08.031.
  59. Liu, J, Campagna J, John V, Damoiseaux R, Mokhonova E, Becerra D, Meng H, McNally EM, Pyle AD, Kramerova I, Spencer MJ. (2020). A Small Molecule Approach to Restore a Slow Oxidative Phenotype and Defective CamkII Signaling in Limb Girdle Muscular Dystrophy. Cell Reports Medicine 1(7):100122.
  60. Saleh KK, Xi H, Switzler C, Skuratovsky E, Romero MA, Chien P, Gibbs D, Gane L, Hicks MR, Spencer MJ, Pyle AD. Single cell sequencing maps skeletal muscle cellular diversity as disease severity increases in dystrophic mouse models. iScience. 2022;25(11):105415. Epub 2022/11/18. doi: 10.1016/j.isci.2022.105415. PubMed PMID: 36388984; PMCID: PMC9646951.
  61. Coulis G, Jaime D, Guerrero-Juarez C, Kastenschmidt JM, Farahat PK, Nguyen Q, Pervolarakis N, McLinden K, Thurlow L, Movahedi S, Hughes BS, Duarte J, Sorn A, Montoya E, Mozaffar I, Dragan M, Othy S, Joshi T, Hans CP, Kimonis V, MacLean AL, Nie Q, Wallace LM, Harper SQ, Mozaffar T, Hogarth MW, Bhattacharya S, Jaiswal JK, Golann DR, Su Q, Kessenbrock K, Stec M, Spencer MJ, Zamudio JR, Villalta SA  Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosis. Sci Adv. 2023 Jul 7;9(27):eadd9984. doi: 10.1126/sciadv.add9984. Epub 2023 Jul 7.PMID: 37418531.
  62. Hicks MR, Liu X, Young CS, Saleh K, Ji Y, Jiang J, Emami MR, Mokhonova E, Spencer MJ, Meng H, Pyle AD. Nanoparticles systemically biodistribute to regenerating skeletal muscle in DMD. J Nanobiotechnology. 2023 Aug 29;21(1):303. doi: 10.1186/s12951-023-01994-0. PMID: 37641124; PMCID: PMC10463982.
  63. Emami, MR, Espinoza , A., Young, CS, Ma,F, Farahat, PK, Feigner, P, Chamberlain,JS, Xu,X, Pyle,AD, Pellegrini,M, Villalta,SA, Spencer,MJ (2023) Innate and Adaptive AAV-mediated Immune Responses in a Mouse Model of Duchenne Muscular Dystrophy Molecular Therapy Methods and Clinical Development. Volume 30, 14 September 2023, Pages 90-102.

Recent Reviews

  1. Tidball, J. G., and Spencer. M. J. (2000). Molecules in focus: Calpains and the muscular dystrophies. International Journal of Biochemistry and Cell Biology, 32, 1-5.
  2. Spencer, M. J., and Tidball, J. G. (2001). Do immune cells promote the pathology of dystrophin-deficient myopathies? Neuromuscular Disorders, 11(6-7), 556-564.
  3. Tidball, J. G., and Spencer. M. J. (2003). Skipping along to new gene therapeutics for muscular dystrophy. Nature Medicine, 9(8), 997-998.
  4. Kramerova, I., Beckmann, J. S., and Spencer, M. J. (2007). Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). Biochimica et Biophysica Acta (BBA), Feb; 1772(2), 128-44.
  5. Beckmann, J. S., and Spencer. M. J. (2008). Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. Neuromuscular Disorders, Dec; 18(12), 913-21. Epub 2008 Oct 29. PMCID: PMC2614824.
  6. Nelson S. F., Crosbie, R. H., Miceli, M. C., and Spencer, M. J. (2009). Emerging genetic therapies to treat Duchenne muscular dystrophy. Current Opinion in Neurology, Oct 22; (5), 532-8. PMCID: PMC2856442.
  7. Quattrocelli M, Spencer MJ, McNally EM. (2016) Outside in: The matrix as a modifier of Duchenne muscular dystrophy. Biochim Biophys Acta. Dec 21;1864(3):572-579.
  8. Young, CS, Pyle, AD, Spencer M.J. (2019) CRISPR for Neuromuscular Disorders: Gene Editing and Beyond. Physiology 2019 Sep 1;34(5):341-353.
  9. Dowling, JJ, Weihl, CC, Spencer, MJ (2021) Molecular and cellular basis of genetically inherited skeletal muscle disorders. Nature Reviews Molecular Cell Biology Jul 13 doi: 10.1038/s41580-021-00389-z
  10. Kohn, DB, Chen, YY, Spencer, MJ. (2023) Successes and Challenges in Clinical Gene Therapy Gene Therapy in press.