Harvard Catalyst Profiles

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Kathryn Swoboda, M.D.

Concepts

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

0.142
  1. Whole-blood dysregulation of actin-cytoskeleton pathway in adult spinal muscular atrophy patients. Ann Clin Transl Neurol. 2020 07; 7(7):1158-1165.
    View in: PubMed
    Score: 0.019
  2. Prospective Cohort Study of Nusinersen Treatment in Adults with Spinal Muscular Atrophy. J Neuromuscul Dis. 2020; 7(3):257-268.
    View in: PubMed
    Score: 0.019
  3. Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One. 2009; 4(5):e5268.
    View in: PubMed
    Score: 0.009
  4. Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives. J Child Neurol. 2007 Aug; 22(8):1019-26.
    View in: PubMed
    Score: 0.008
  5. 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: 0.007
  6. Motor unit number estimation in infants and children with spinal muscular atrophy. Muscle Nerve. 2002 Mar; 25(3):445-7.
    View in: PubMed
    Score: 0.005
  7. 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: 0.005
  8. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 2000 Jul 25; 55(2):224-30.
    View in: PubMed
    Score: 0.005
  9. Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood. Neurobiol Dis. 2018 07; 115:29-38.
    View in: PubMed
    Score: 0.004
  10. Mutilating hand syndrome in an infant with familial carpal tunnel syndrome. Muscle Nerve. 1998 Jan; 21(1):104-11.
    View in: PubMed
    Score: 0.004
  11. Developing multidisciplinary clinics for neuromuscular care and research. Muscle Nerve. 2017 Nov; 56(5):848-858.
    View in: PubMed
    Score: 0.004
  12. Pregnancy and delivery in women with spinal muscular atrophy. Int J Neurosci. 2017 Nov; 127(11):953-957.
    View in: PubMed
    Score: 0.004
  13. 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: 0.003
  14. SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy. Muscle Nerve. 2014 Feb; 49(2):187-92.
    View in: PubMed
    Score: 0.003
  15. 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: 0.003
  16. 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: 0.003
  17. Rasch analysis of clinical outcome measures in spinal muscular atrophy. Muscle Nerve. 2014 Mar; 49(3):422-30.
    View in: PubMed
    Score: 0.003
  18. SMA-MAP: a plasma protein panel for spinal muscular atrophy. PLoS One. 2013; 8(4):e60113.
    View in: PubMed
    Score: 0.003
  19. 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: 0.003
  20. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Sep; 44(9):1030-4.
    View in: PubMed
    Score: 0.003
  21. 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: 0.003
  22. 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: 0.003
  23. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord. 2010 Aug; 20(8):499-504.
    View in: PubMed
    Score: 0.002
  24. A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet. 2009 Sep; 85(3):408-13.
    View in: PubMed
    Score: 0.002
  25. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain. 2009 Feb; 132(Pt 2):452-64.
    View in: PubMed
    Score: 0.002
  26. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat. 2008 Sep; 29(9):E150-72.
    View in: PubMed
    Score: 0.002
  27. A new distal arthrogryposis syndrome characterized by plantar flexion contractures. . 2006 Dec 15; 140(24):2797-801.
    View in: PubMed
    Score: 0.002
  28. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004 Dec 28; 63(12):2280-7.
    View in: PubMed
    Score: 0.002
  29. 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: 0.002
  30. Counting motor units in chronic motor neuropathies. Exp Neurol. 2003 Nov; 184 Suppl 1:S53-7.
    View in: PubMed
    Score: 0.002
  31. 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: 0.001
  32. Sources and physiological significance of plasma dopamine sulfate. J Clin Endocrinol Metab. 1999 Jul; 84(7):2523-31.
    View in: PubMed
    Score: 0.001
  33. [Comparison of anxiety in patients before surgery for varicose veins and laparoscopic cholecystectomy]. Wiad Lek. 1998; 51(3-4):127-31.
    View in: PubMed
    Score: 0.001
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.