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Intron retention induced by microsatellite expansions as a disease biomarker.
Sznajder ŁJ, Thomas JD, Carrell EM, Reid T, McFarland KN, Cleary JD, Oliveira R, Nutter CA, Bhatt K, Sobczak K, Ashizawa T, Thornton CA, Ranum LPW, Swanson MS. Sznajder ŁJ, et al. Among authors: ashizawa t. Proc Natl Acad Sci U S A. 2018 Apr 17;115(16):4234-4239. doi: 10.1073/pnas.1716617115. Epub 2018 Apr 2. Proc Natl Acad Sci U S A. 2018. PMID: 29610297 Free PMC article.
Getting a grip on the myotonic dystrophies.
Thornton CA, Ashizawa T. Thornton CA, et al. Among authors: ashizawa t. Neurology. 1999 Jan 1;52(1):12-3. doi: 10.1212/wnl.52.1.12. Neurology. 1999. PMID: 9921841 No abstract available.
Spinocerebellar ataxia type 10 is rare in populations other than Mexicans.
Matsuura T, Ranum LP, Volpini V, Pandolfo M, Sasaki H, Tashiro K, Watase K, Zoghbi HY, Ashizawa T. Matsuura T, et al. Among authors: ashizawa t. Neurology. 2002 Mar 26;58(6):983-4. doi: 10.1212/wnl.58.6.983. Neurology. 2002. PMID: 11914424 No abstract available.
If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).
Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, Tawil R, Thornton CA, Moxley RT 3rd; Registry Scientific Advisory Committee. Hilbert JE, et al. Contemp Clin Trials. 2012 Mar;33(2):302-11. doi: 10.1016/j.cct.2011.11.016. Epub 2011 Nov 26. Contemp Clin Trials. 2012. PMID: 22155025 Free PMC article.
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy.
Charizanis K, Lee KY, Batra R, Goodwin M, Zhang C, Yuan Y, Shiue L, Cline M, Scotti MM, Xia G, Kumar A, Ashizawa T, Clark HB, Kimura T, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Gomes-Pereira M, Gourdon G, Sakai N, Nishino S, Foster TC, Ares M Jr, Darnell RB, Swanson MS. Charizanis K, et al. Among authors: ashizawa t. Neuron. 2012 Aug 9;75(3):437-50. doi: 10.1016/j.neuron.2012.05.029. Neuron. 2012. PMID: 22884328 Free PMC article.
480 results