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A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Figueroa KP, Gross C, Buena-Atienza E, Paul S, Gandelman M, Kakar N, Sturm M, Casadei N, Admard J, Park J, Zühlke C, Hellenbroich Y, Pozojevic J, Balachandran S, Händler K, Zittel S, Timmann D, Erdlenbruch F, Herrmann L, Feindt T, Zenker M, Klopstock T, Dufke C, Scoles DR, Koeppen A, Spielmann M, Riess O, Ossowski S, Haack TB, Pulst SM. Figueroa KP, et al. Among authors: pulst sm. Nat Genet. 2024 Apr 29. doi: 10.1038/s41588-024-01719-5. Online ahead of print. Nat Genet. 2024. PMID: 38684900
Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat.
Figueroa KP, Anderson CJ, Paul S, Dansithong W, Gandelman M, Scoles DR, Pulst SM. Figueroa KP, et al. Among authors: pulst sm. Hum Mol Genet. 2023 May 5;32(10):1647-1659. doi: 10.1093/hmg/ddad004. Hum Mol Genet. 2023. PMID: 36621975 Free PMC article.
Spotlight on the June 2015 issue.
Pulst SM. Pulst SM. Neurol Genet. 2015 Jul 2;1(1):e11. doi: 10.1212/NXG.0000000000000011. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066540 Free PMC article.
Welcome to Neurology: Genetics.
Pulst SM. Pulst SM. Neurol Genet. 2015 Apr 17;1(1):e2. doi: 10.1212/01.NXG.0000464293.80983.72. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066541 Free PMC article.
Genetics of neurodegenerative diseases.
Pulst SM. Pulst SM. Neurol Genet. 2016 Feb 18;2(1):e52. doi: 10.1212/NXG.0000000000000052. eCollection 2016 Feb. Neurol Genet. 2016. PMID: 27066589 Free PMC article.
256 results