References
Ashizawa, T., Dubel, J. R., & Harati, Y. (1993). Somatic instability of ctg repeat in myotonic dystrophy. Neurology , 43 (12), 2674–2678. https://doi.org/10.1212/wnl.43.12.2674
Bird, T. D. (1993). GeneReviews® Myotonic Dystrophy Type 1: Last Update: October 3, 2019. In GeneReviews® . University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/pubmed/20301344
Botta, A., Rinaldi, F., Catalli, C., Vergani, L., Bonifazi, E., Romeo, V., Loro, E., Viola, A., Angelini, C., & Novelli, G. (2008). The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients. Journal of Medical Genetics , 45 (10), 639–646. https://doi.org/10.1136/jmg.2008.058909
Bundey, S. (1982). Clinical evidence for heterogeneity in myotonic dystrophy. Journal of Medical Genetics , 19 (5), 341–348. https://doi.org/10.1136/jmg.19.5.341
Butland, R. J. A., Pang, J., Gross, E. R., Woodcock, A. A., & Geddes, D. M. (1982). Two-, six-, and 12-minute walking tests in respiratory disease. British Medical Journal , 284 (6329), 1607–1608. https://doi.org/10.1136/bmj.285.6337.295
Casanova, C., Celli, B. R., Barria, P., Casas, A., Cote, C., De Torres, J. P., Jardim, J., Lopez, M. V., Marin, J. M., Montes De Oca, M., Pinto-Plata, V., & Aguirre-Jaime, A. (2011). The 6-min walk distance in healthy subjects: Reference standards from seven countries.European Respiratory Journal , 37 (1), 150–156. https://doi.org/10.1183/09031936.00194909
Charlet-B., N., Savkur, R. S., Singh, G., Philips, A. V., Grice, E. A., & Cooper, T. A. (2002). Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing.Molecular Cell , 10 (1), 45–53. https://doi.org/10.1016/S1097-2765(02)00572-5
Compston, A. (2010). Aids to the investigation of peripheral nerve injuries. Medical Research Council: Nerve Injuries Research Committee. His Majesty’s Stationery Office: 1942; pp. 48 (iii) and 74 figures and 7 diagrams; with aids to the examination of the peripheral nervous .Brain : A Journal of Neurology , 133 (10), 2838–2844. https://doi.org/10.1093/brain/awq270
Corrales, E., Vásquez, M., Zhang, B., Santamaría-Ulloa, C., Cuenca, P., Krahe, R., Monckton, D. G., & Morales, F. (2019). Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1. PLoS ONE , 14 (5). https://doi.org/10.1371/journal.pone.0216407
Cumming, S. A., Jimenez-Moreno, C., Okkersen, K., Wenninger, S., Daidj, F., Hogarth, F., Littleford, R., Gorman, G., Bassez, G., Schoser, B., Lochmüller, H., van Engelen, B. G. M., Monckton, D. G., & OPTIMISTIC Consortium. (2019). Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort. Neurology ,93 (10), e995–e1009. https://doi.org/10.1212/WNL.0000000000008056
Furling, D., Lam, L. T., Agbulut, O., Butler-Browne, G. S., & Morris, G. E. (2003). Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy. American Journal of Pathology , 162 (3), 1001–1009. https://doi.org/10.1016/S0002-9440(10)63894-1
Furling, D., Lemieux, D., Taneja, K., & Puymirat, J. (2001). Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts.Neuromuscular Disorders , 11 (8), 728–735. https://doi.org/10.1016/S0960-8966(01)00226-7
Gomes-Pereira, M., Bidichandani, S. I., & Monckton, D. G. (2004). Analysis of unstable triplet repeats using small-pool polymerase chain reaction. Methods in Molecular Biology (Clifton, N.J.) ,277 , 61–76. https://doi.org/10.1385/1-59259-804-8:061
Gudde, A. E. E. G., González-Barriga, A., van den Broek, W. J. A. A., Wieringa, B., & Wansink, D. G. (2016). A low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle. Human Molecular Genetics , 25 (8), 1648–1662. https://doi.org/10.1093/hmg/ddw042
Harper, P. S., Harley, H. G., Reardon, W., & Shaw, D. J. (1992). Review article: Anticipation in myotonic dystrophy: New light on an old problem. In American Journal of Human Genetics (Vol. 51, Issue 1, pp. 10–16). Elsevier. /pmc/articles/PMC1682874/?report=abstract
Khajavi, M., Tari, A. M., Patel, N. B., Tsuji, K., Siwak, D. R., Meistrich, M. L., Terry, N. H., & Ashizawa, T. (2001). “Mitotic drive” of expanded CTG repeats in myotonic dystrophy type 1 (DM1).Hum Mol Genet , 10 (8), 855-863. https://doi.org/10.1093/hmg/10.8.855
Kimura, T., Nakamori, M., Lueck, J. D., Pouliquin, P., Aoike, F., Fujimura, H., Dirksen, R. T., Takahashi, M. P., Dulhunty, A. F., & Sakoda, S. (2005). Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. Human Molecular Genetics ,14 (15), 2189–2200. https://doi.org/10.1093/hmg/ddi223
Konieczny, P., Stepniak-Konieczna, E., Taylor, -Lukasz, K., Sznajder, J., & Sobczak, K. (2017). Autoregulation of MBNL1 function by exon 1 exclusion from MBNL1 transcript. Nucleic Acids Research ,45 (4), 1760–1775. https://doi.org/10.1093/nar/gkw1158
Korneluk, R. G. (1993). Effect of the myotonic dystrophy {DM) mutation on mRNA levels of theDMgene . 4 (july), 233–238. https://doi.org/10.1038/ng0793-233
Kulkarni, A., Anderson, A. G., Merullo, D. P., & Konopka, G. (2019). Beyond bulk: a review of single cell transcriptomics methodologies and applications. Current Opinion in Biotechnology , 58 , 129–136. https://doi.org/10.1016/j.copbio.2019.03.001
Lavedan, C., Hofmann-Radvanyi, H., Shelbourne, P., Rabes, J. P., Duros, C., Savoy, D., Dehaupas, I., Luce, S., Johnson, K., & Junien, C. (1993). Myotonic dystrophy: Size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. American Journal of Human Genetics , 52 (5), 875–883. http://www.ncbi.nlm.nih.gov/pubmed/8098180
Mahadevan, M., Tsilfidis, C., Sabourin, L., Shutler, G., Amemiya, C., Jansen, G., Neville, C., Narang, M., Barceló, J., O’Hoy, K., & et, al. (1992). Myotonic dystrophy mutation: an unstable CTG repeat in the 3’ untranslated region of the gene. Science (New York, N.Y.) ,255 (5049), 1253–1255. https://doi.org/10.1126/science.1546325
Mathieu, J., Boivin, H., Meunier, D., Gaudreault, M., & Bégin, P. (2001). Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurology , 56 (3), 336–340. https://doi.org/10.1212/WNL.56.3.336
Miller, J. W., Urbinati, C. R., Teng-Umnuay, P., Stenberg, M. G., Byrne, B. J., Thornton, C. A., & Swanson, M. S. (2000). Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. The EMBO Journal , 19 (17), 4439–4448. https://doi.org/10.1093/emboj/19.17.4439
Monckton, D. G., Wong, L. J. C., Ashizawa, T., & Caskey, C. T. (1995). Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Human Molecular Genetics , 4 (1), 1–8. https://doi.org/10.1093/hmg/4.1.1
Morales, F., Couto, J. M., Higham, C. F., Hogg, G., Cuenca, P., Braida, C., Wilson, R. H., Adam, B., del Valle, G., Brian, R., Sittenfeld, M., Ashizawa, T., Wilcox, A., Wilcox, D. E., & Monckton, D. G. (2012). Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity. Human Molecular Genetics , 21 (16), 3558–3567. https://doi.org/10.1093/hmg/dds185
Mykowska, A., Sobczak, K., Wojciechowska, M., Kozlowski, P., & Krzyzosiak, W. J. (2011). CAG repeats mimic CUG repeats in the misregulation of alternative splicing. Nucleic Acids Research ,39 (20), 8938–8951. https://doi.org/10.1093/nar/gkr608
Overend, G., Légaré, C., Mathieu, J., Bouchard, L., Gagnon, C., & Monckton, D. G. (2019). Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes.Human Molecular Genetics , 28 (13), 2245–2254. https://doi.org/10.1093/hmg/ddz055
Pandey, S. K., Wheeler, T. M., Justice, S. L., Kim, A., Younis, H. S., Gattis, D., Jauvin, D., Puymirat, J., Swayze, E. E., Freier, S. M., Bennett, C. F., Thornton, C. A., & MacLeod, A. R. (2015). Identification and characterization of modified antisense oligonucleotides targeting DMPK in mice and nonhuman primates for the treatment of myotonic dystrophy type 1s. Journal of Pharmacology and Experimental Therapeutics , 355 (2), 329–340. https://doi.org/10.1124/jpet.115.226969
Perchet, T., Chea, S., Hasan, M., Cumano, A., & Golub, R. (2017). Single-cell gene expression using multiplex RT-qPCR to characterize heterogeneity of rare lymphoid populations. Journal of Visualized Experiments , 119 (119), 1–11. https://doi.org/10.3791/54858
Querido, E., Gallardo, F., Beaudoin, M., Ménard, C., & Chartrand, P. (2011). Stochastic and reversible aggregation of mRNA with expanded CUG-triplet repeats. Journal of Cell Science , 124 (10), 1703–1714. https://doi.org/10.1242/jcs.073270
Rantalainen, M. (2018). Application of single-cell sequencing in human cancer. Briefings in Functional Genomics , 17 (4), 273–282. https://doi.org/10.1093/bfgp/elx036
Ren, X., Kang, B., & Zhang, Z. (2018). Understanding tumor ecosystems by single-cell sequencing: Promises and limitations 11 Medical and Health Sciences 1112 Oncology and Carcinogenesis 06 Biological Sciences 0604 Genetics. Genome Biology , 19 (1), 1–14. https://doi.org/10.1186/s13059-018-1593-z
Renna, L. V., Bosè, F., Brigonzi, E., Fossati, B., Meola, G., & Cardani, R. (2019). Aberrant insulin receptor expression is associated with insulin resistance and skeletal muscle atrophy in myotonic dystrophies. PloS One , 14 (3), e0214254. https://doi.org/10.1371/journal.pone.0214254
Salinas-Rios, V., Belotserkovskii, B. P., & Hanawalt, P. C. (2011). DNA slip-outs cause RNA polymerase II arrest in vitro: Potential implications for genetic instability. In Nucleic Acids Research(Vol. 39, Issue 17, pp. 7444–7455). https://doi.org/10.1093/nar/gkr429
Ståhlberg, A., & Kubista, M. (2018). Technical aspects and recommendations for single-cell qPCR. Molecular Aspects of Medicine , 59 , 28–35. https://doi.org/10.1016/j.mam.2017.07.004
Ståhlberg, A., Rusnakova, V., Forootan, A., Anderova, M., & Kubista, M. (2013). RT-qPCR work-flow for single-cell data analysis. Methods ,59 (1), 80–88. https://doi.org/10.1016/j.ymeth.2012.09.007
Thornton, C. A., Johnson, K., & Moxley, R. T. (1994). Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Annals of Neurology , 35 (1), 104–107. https://doi.org/10.1002/ana.410350116
Van Swieten, J. C., Koudstaal, P. J., Visser, M. C., Schouten, H., & Van Gijn, J. (1988). Interobserver agreement for the assessment of handicap in stroke patients. Stroke , 19 (5), 604–607. https://doi.org/10.1161/01.STR.19.5.604
Wong, L. J., Ashizawa, T., Monckton, D. G., Caskey, C. T., & Richards, C. S. (1995). Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. American Journal of Human Genetics , 56 (1), 114–122. http://www.ncbi.nlm.nih.gov/pubmed/7825566