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Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T. Haack TB, et al. Among authors: paucar m. Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545679 Free PMC article.
Expanding the ataxia with oculomotor apraxia type 4 phenotype.
Paucar M, Malmgren H, Taylor M, Reynolds JJ, Svenningsson P, Press R, Nordgren A. Paucar M, et al. Neurol Genet. 2016 Jan 21;2(1):e49. doi: 10.1212/NXG.0000000000000049. eCollection 2016 Feb. Neurol Genet. 2016. PMID: 27066586 Free PMC article.
83 results