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Page 1
Striatal Projection Neurons Require Huntingtin for Synaptic Connectivity and Survival.
Burrus CJ, McKinstry SU, Kim N, Ozlu MI, Santoki AV, Fang FY, Ma A, Karadeniz YB, Worthington AK, Dragatsis I, Zeitlin S, Yin HH, Eroglu C. Burrus CJ, et al. Among authors: mckinstry su. Cell Rep. 2020 Jan 21;30(3):642-657.e6. doi: 10.1016/j.celrep.2019.12.069. Cell Rep. 2020. PMID: 31968243 Free PMC article.
Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity.
Bennett CL, Dastidar S, Arnold FJ, McKinstry SU, Stockford C, Freibaum BD, Sopher BL, Wu M, Seidner G, Joiner W, Taylor JP, West RJH, La Spada AR. Bennett CL, et al. Among authors: mckinstry su. Acta Neuropathol Commun. 2023 Oct 17;11(1):164. doi: 10.1186/s40478-023-01665-z. Acta Neuropathol Commun. 2023. PMID: 37845749 Free PMC article.
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.
Marconi C, Di Buduo CA, LeVine K, Barozzi S, Faleschini M, Bozzi V, Palombo F, McKinstry S, Lassandro G, Giordano P, Noris P, Balduini CL, Savoia A, Balduini A, Pippucci T, Seri M, Katsanis N, Pecci A. Marconi C, et al. Blood. 2019 Mar 21;133(12):1346-1357. doi: 10.1182/blood-2018-07-859496. Epub 2018 Dec 27. Blood. 2019. PMID: 30591527 Free article.