Harvard Catalyst Profiles

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Kathryn Swoboda, M.D.

Concepts

This page shows the publications Kathryn Swoboda has written about Adolescent.
Connection Strength

0.251
  1. Resistance strength training exercise in children with spinal muscular atrophy. Muscle Nerve. 2015 Oct; 52(4):559-67.
    View in: PubMed
    Score: 0.021
  2. Perceptions of equine-assisted activities and therapies by parents and children with spinal muscular atrophy. Pediatr Phys Ther. 2014; 26(2):237-44.
    View in: PubMed
    Score: 0.019
  3. Nutritional practices at a glance: spinal muscular atrophy type I nutrition survey findings. J Child Neurol. 2014 Nov; 29(11):1467-72.
    View in: PubMed
    Score: 0.019
  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: 0.018
  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: 0.017
  6. Compound muscle action potential and motor function in children with spinal muscular atrophy. Muscle Nerve. 2010 Nov; 42(5):703-8.
    View in: PubMed
    Score: 0.015
  7. Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One. 2009; 4(5):e5268.
    View in: PubMed
    Score: 0.014
  8. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome. Pediatrics. 2009 Mar; 123(3):e534-41.
    View in: PubMed
    Score: 0.014
  9. 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: 0.010
  10. Motor unit number estimation in infants and children with spinal muscular atrophy. Muscle Nerve. 2002 Mar; 25(3):445-7.
    View in: PubMed
    Score: 0.008
  11. A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies. Eur J Med Genet. 2020 Dec; 63(12):104063.
    View in: PubMed
    Score: 0.008
  12. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 2000 Jul 25; 55(2):224-30.
    View in: PubMed
    Score: 0.007
  13. Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies. Neurology. 2019 05 21; 92(21):e2492-e2506.
    View in: PubMed
    Score: 0.007
  14. Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy. Neurology. 2016 Mar 08; 86(10):890-7.
    View in: PubMed
    Score: 0.005
  15. Intrathecal Injections in Children With Spinal Muscular Atrophy: Nusinersen Clinical Trial Experience. J Child Neurol. 2016 06; 31(7):899-906.
    View in: PubMed
    Score: 0.005
  16. Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45. Ann Neurol. 2015 Apr; 77(4):668-74.
    View in: PubMed
    Score: 0.005
  17. Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Hum Mutat. 2013 Nov; 34(11):1558-67.
    View in: PubMed
    Score: 0.005
  18. 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.
    View in: PubMed
    Score: 0.005
  19. Rasch analysis of clinical outcome measures in spinal muscular atrophy. Muscle Nerve. 2014 Mar; 49(3):422-30.
    View in: PubMed
    Score: 0.005
  20. SMA-MAP: a plasma protein panel for spinal muscular atrophy. PLoS One. 2013; 8(4):e60113.
    View in: PubMed
    Score: 0.005
  21. 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: 0.004
  22. Population pharmacokinetics of valproic acid in pediatric patients with epilepsy: considerations for dosing spinal muscular atrophy patients. J Clin Pharmacol. 2012 Nov; 52(11):1676-88.
    View in: PubMed
    Score: 0.004
  23. 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: 0.004
  24. 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: 0.004
  25. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord. 2010 Aug; 20(8):499-504.
    View in: PubMed
    Score: 0.004
  26. A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22. Neuromuscul Disord. 2009 Apr; 19(4):279-87.
    View in: PubMed
    Score: 0.003
  27. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat. 2008 Sep; 29(9):E150-72.
    View in: PubMed
    Score: 0.003
  28. A new distal arthrogryposis syndrome characterized by plantar flexion contractures. . 2006 Dec 15; 140(24):2797-801.
    View in: PubMed
    Score: 0.003
  29. 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: 0.003
  30. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004 Dec 28; 63(12):2280-7.
    View in: PubMed
    Score: 0.003
  31. Counting motor units in chronic motor neuropathies. Exp Neurol. 2003 Nov; 184 Suppl 1:S53-7.
    View in: PubMed
    Score: 0.002
  32. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 1999 Oct; 23(2):208-12.
    View in: PubMed
    Score: 0.002
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.