Harvard Catalyst Profiles

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Kathryn Swoboda, M.D.

Concepts

This page shows the publications Kathryn Swoboda has written about Survival of Motor Neuron 1 Protein.
  1. Whole blood survival motor neuron protein levels correlate with severity of denervation in spinal muscular atrophy. Muscle Nerve. 2020 09; 62(3):351-357.
    View in: PubMed
    Score: 0.849
  2. SMN-targeted therapeutics for spinal muscular atrophy: are we SMArt enough yet? J Clin Invest. 2014 Feb; 124(2):487-90.
    View in: PubMed
    Score: 0.544
  3. Of SMN in mice and men: a therapeutic opportunity. J Clin Invest. 2011 Aug; 121(8):2978-81.
    View in: PubMed
    Score: 0.457
  4. Romancing the spliceosome to fight spinal muscular atrophy. N Engl J Med. 2014 Oct 30; 371(18):1752-4.
    View in: PubMed
    Score: 0.143
  5. New therapeutic approaches to spinal muscular atrophy. Curr Neurol Neurosci Rep. 2012 Feb; 12(1):42-53.
    View in: PubMed
    Score: 0.118
  6. A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites. Eur J Hum Genet. 2011 Oct; 19(10):1045-51.
    View in: PubMed
    Score: 0.113
  7. 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.
    View in: PubMed
    Score: 0.107
  8. Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA. Sci Transl Med. 2021 01 27; 13(578).
    View in: PubMed
    Score: 0.055
  9. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Hum Genet. 2019 Mar; 138(3):241-256.
    View in: PubMed
    Score: 0.048
  10. Natural history of infantile-onset spinal muscular atrophy. Ann Neurol. 2017 Dec; 82(6):883-891.
    View in: PubMed
    Score: 0.044
  11. Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR. Neuromuscul Disord. 2017 May; 27(5):439-446.
    View in: PubMed
    Score: 0.042
  12. 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.
    View in: PubMed
    Score: 0.042
  13. Astrocytes influence the severity of spinal muscular atrophy. Hum Mol Genet. 2015 Jul 15; 24(14):4094-102.
    View in: PubMed
    Score: 0.037
  14. Glucose metabolism and pancreatic defects in spinal muscular atrophy. Ann Neurol. 2012 Aug; 72(2):256-68.
    View in: PubMed
    Score: 0.031
  15. 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.
    View in: PubMed
    Score: 0.028
  16. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. . 2004 Oct 15; 130A(3):307-10.
    View in: PubMed
    Score: 0.018
Connection Strength

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Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.