Harvard Catalyst Profiles

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Kathryn Swoboda, M.D.

Concepts

This page shows the publications Kathryn Swoboda has written about Infant, Newborn.
Connection Strength

0.382
  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: 0.055
  2. NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations. Neurology. 2016 Sep 13; 87(11):1131-9.
    View in: PubMed
    Score: 0.042
  3. Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis. Neurology. 2014 Apr 15; 82(15):1322-30.
    View in: PubMed
    Score: 0.035
  4. Vitamin D intake is inadequate in spinal muscular atrophy type I cohort: correlations with bone health. J Child Neurol. 2014 Mar; 29(3):374-80.
    View in: PubMed
    Score: 0.033
  5. Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I. Neuromuscul Disord. 2012 Nov; 22(11):966-73.
    View in: PubMed
    Score: 0.031
  6. Seize the day: Newborn screening for SMA. Am J Med Genet A. 2010 Jul; 152A(7):1605-7.
    View in: PubMed
    Score: 0.027
  7. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005 May; 57(5):704-12.
    View in: PubMed
    Score: 0.019
  8. Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. Ann Neurol. 2003; 54 Suppl 6:S49-55.
    View in: PubMed
    Score: 0.016
  9. Motor unit number estimation in infants and children with spinal muscular atrophy. Muscle Nerve. 2002 Mar; 25(3):445-7.
    View in: PubMed
    Score: 0.015
  10. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 2000 Jul 25; 55(2):224-30.
    View in: PubMed
    Score: 0.014
  11. Stander Use in Spinal Muscular Atrophy: Results From a Large Natural History Database. Pediatr Phys Ther. 2020 07; 32(3):235-241.
    View in: PubMed
    Score: 0.014
  12. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscul Disord. 2019 11; 29(11):842-856.
    View in: PubMed
    Score: 0.013
  13. Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet. J Pediatr. 1997 Dec; 131(6):932-4.
    View in: PubMed
    Score: 0.011
  14. Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum. Pediatrics. 2017 Jul; 140(Suppl 1):S24-S45.
    View in: PubMed
    Score: 0.011
  15. Parental permission for pilot newborn screening research: guidelines from the NBSTRN. Pediatrics. 2014 Feb; 133(2):e410-7.
    View in: PubMed
    Score: 0.009
  16. Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome. Hum Mutat. 2013 Aug; 34(8):1066-70.
    View in: PubMed
    Score: 0.008
  17. Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy. Am J Med Genet A. 2013 Apr; 161A(4):679-86.
    View in: PubMed
    Score: 0.008
  18. Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I. Pediatr Phys Ther. 2013; 25(2):140-8; discussion 149.
    View in: PubMed
    Score: 0.008
  19. Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. Clin Genet. 2011 Feb; 79(2):176-82.
    View in: PubMed
    Score: 0.007
  20. Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12. Mol Genet Metab. 2006 Jun; 88(2):138-45.
    View in: PubMed
    Score: 0.005
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

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.