This page shows the publications Kathryn Swoboda has written about Homozygote.
Of SMN in mice and men: a therapeutic opportunity. J Clin Invest. 2011 Aug; 121(8):2978-81.
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. Am J Med Genet A. 2019 08; 179(8):1575-1579.
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.
Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. . 2004 Oct 15; 130A(3):307-10.
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