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Spinal muscular atrophy.
Arnold ES, Fischbeck KH. Arnold ES, et al. Handb Clin Neurol. 2018;148:591-601. doi: 10.1016/B978-0-444-64076-5.00038-7. Handb Clin Neurol. 2018. PMID: 29478602 Review.
ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43.
Arnold ES, Ling SC, Huelga SC, Lagier-Tourenne C, Polymenidou M, Ditsworth D, Kordasiewicz HB, McAlonis-Downes M, Platoshyn O, Parone PA, Da Cruz S, Clutario KM, Swing D, Tessarollo L, Marsala M, Shaw CE, Yeo GW, Cleveland DW. Arnold ES, et al. Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):E736-45. doi: 10.1073/pnas.1222809110. Epub 2013 Feb 4. Proc Natl Acad Sci U S A. 2013. PMID: 23382207 Free PMC article.
Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS.
Mitchell JC, Constable R, So E, Vance C, Scotter E, Glover L, Hortobagyi T, Arnold ES, Ling SC, McAlonis M, Da Cruz S, Polymenidou M, Tessarolo L, Cleveland DW, Shaw CE. Mitchell JC, et al. Among authors: arnold es. Acta Neuropathol Commun. 2015 Jun 25;3:36. doi: 10.1186/s40478-015-0212-4. Acta Neuropathol Commun. 2015. PMID: 26108367 Free PMC article.