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79 results

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Page 1
Myotonic dystrophy.
Thornton CA. Thornton CA. Neurol Clin. 2014 Aug;32(3):705-19, viii. doi: 10.1016/j.ncl.2014.04.011. Epub 2014 Jun 6. Neurol Clin. 2014. PMID: 25037086 Free PMC article. Review.
Myotonic dystrophy: approach to therapy.
Thornton CA, Wang E, Carrell EM. Thornton CA, et al. Curr Opin Genet Dev. 2017 Jun;44:135-140. doi: 10.1016/j.gde.2017.03.007. Epub 2017 Apr 1. Curr Opin Genet Dev. 2017. PMID: 28376341 Free PMC article. Review.
Developments in RNA splicing and disease.
Poulos MG, Batra R, Charizanis K, Swanson MS. Poulos MG, et al. Cold Spring Harb Perspect Biol. 2011 Jan 1;3(1):a000778. doi: 10.1101/cshperspect.a000778. Cold Spring Harb Perspect Biol. 2011. PMID: 21084389 Free PMC article. Review.
Consensus-based care recommendations for adults with myotonic dystrophy type 1.
Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S. Ashizawa T, et al. Neurol Clin Pract. 2018 Dec;8(6):507-520. doi: 10.1212/CPJ.0000000000000531. Neurol Clin Pract. 2018. PMID: 30588381 Free PMC article. Review.
Hypothesis: neoplasms in myotonic dystrophy.
Mueller CM, Hilbert JE, Martens W, Thornton CA, Moxley RT 3rd, Greene MH. Mueller CM, et al. Cancer Causes Control. 2009 Dec;20(10):2009-20. doi: 10.1007/s10552-009-9395-y. Cancer Causes Control. 2009. PMID: 19642006 Free PMC article. Review.
Epigenetic changes and non-coding expanded repeats.
Nakamori M, Thornton C. Nakamori M, et al. Neurobiol Dis. 2010 Jul;39(1):21-7. doi: 10.1016/j.nbd.2010.02.004. Epub 2010 Feb 18. Neurobiol Dis. 2010. PMID: 20171282 Free PMC article. Review.
STRring up Cancer with lncRNA.
Bubenik J, Swanson MS. Bubenik J, et al. Mol Cell. 2018 Nov 1;72(3):399-401. doi: 10.1016/j.molcel.2018.10.026. Mol Cell. 2018. PMID: 30388407 Free article.
Unintended effects of orphan product designation for rare neurological diseases.
Murphy SM, Puwanant A, Griggs RC; Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) and Inherited Neuropathies Consortium (INC) Consortia of the Rare Disease Clinical Research Network. Murphy SM, et al. Ann Neurol. 2012 Oct;72(4):481-90. doi: 10.1002/ana.23672. Ann Neurol. 2012. PMID: 23109143 Free PMC article. Review.
79 results