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Late-onset SCA2: 33 CAG repeats are sufficient to cause disease.
Fernandez M, McClain ME, Martinez RA, Snow K, Lipe H, Ravits J, Bird TD, La Spada AR. Fernandez M, et al. Among authors: la spada ar. Neurology. 2000 Aug 22;55(4):569-72. doi: 10.1212/wnl.55.4.569. Neurology. 2000. PMID: 10953195
Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72.
Zhu Q, Jiang J, Gendron TF, McAlonis-Downes M, Jiang L, Taylor A, Diaz Garcia S, Ghosh Dastidar S, Rodriguez MJ, King P, Zhang Y, La Spada AR, Xu H, Petrucelli L, Ravits J, Da Cruz S, Lagier-Tourenne C, Cleveland DW. Zhu Q, et al. Among authors: la spada ar. Nat Neurosci. 2020 May;23(5):615-624. doi: 10.1038/s41593-020-0619-5. Epub 2020 Apr 13. Nat Neurosci. 2020. PMID: 32284607 Free PMC article.
Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.
Bennett CL, Dastidar SG, Ling SC, Malik B, Ashe T, Wadhwa M, Miller DB, Lee C, Mitchell MB, van Es MA, Grunseich C, Chen Y, Sopher BL, Greensmith L, Cleveland DW, La Spada AR. Bennett CL, et al. Among authors: la spada ar. Acta Neuropathol. 2018 Sep;136(3):425-443. doi: 10.1007/s00401-018-1852-9. Epub 2018 May 3. Acta Neuropathol. 2018. PMID: 29725819 Free PMC article.
177 results