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The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology.
Handb Clin Neurol. 2018;147:143-170. doi: 10.1016/B978-0-444-63233-3.00011-7.
Handb Clin Neurol. 2018.
PMID: 29325609
Review.
Nicotinamide Pathway-Dependent Sirt1 Activation Restores Calcium Homeostasis to Achieve Neuroprotection in Spinocerebellar Ataxia Type 7.
Stoyas CA, Bushart DD, Switonski PM, Ward JM, Alaghatta A, Tang MB, Niu C, Wadhwa M, Huang H, Savchenko A, Gariani K, Xie F, Delaney JR, Gaasterland T, Auwerx J, Shakkottai VG, La Spada AR.
Stoyas CA, et al.
Neuron. 2020 Feb 19;105(4):630-644.e9. doi: 10.1016/j.neuron.2019.11.019. Epub 2019 Dec 16.
Neuron. 2020.
PMID: 31859031
Free PMC article.
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Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease.
Ward JM, Stoyas CA, Switonski PM, Ichou F, Fan W, Collins B, Wall CE, Adanyeguh I, Niu C, Sopher BL, Kinoshita C, Morrison RS, Durr A, Muotri AR, Evans RM, Mochel F, La Spada AR.
Ward JM, et al. Among authors: stoyas ca.
Cell Rep. 2019 Jan 29;26(5):1189-1202.e6. doi: 10.1016/j.celrep.2019.01.028.
Cell Rep. 2019.
PMID: 30699348
Free PMC article.
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