This page shows the publications Kathryn Swoboda has written about Gene Expression Regulation.
Whole-blood dysregulation of actin-cytoskeleton pathway in adult spinal muscular atrophy patients. Ann Clin Transl Neurol. 2020 07; 7(7):1158-1165.
Of SMN in mice and men: a therapeutic opportunity. J Clin Invest. 2011 Aug; 121(8):2978-81.
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 2013 Dec; 12(12):1159-69.
SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PLoS One. 2010 Aug 19; 5(8):e12140.
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. Am J Hum Genet. 2017 02 02; 100(2):297-315.
Astrocytes influence the severity of spinal muscular atrophy. Hum Mol Genet. 2015 Jul 15; 24(14):4094-102.
SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. PLoS One. 2011; 6(7):e21296.
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