Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Kathryn Swoboda, M.D.

Concepts

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

0.463
  1. Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy. Neurology. 2020 03 03; 94(9):e921-e931.
    View in: PubMed
    Score: 0.031
  2. Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II. J Pediatr. 2015 Dec; 167(6):1362-8.e1.
    View in: PubMed
    Score: 0.023
  3. Resistance strength training exercise in children with spinal muscular atrophy. Muscle Nerve. 2015 Oct; 52(4):559-67.
    View in: PubMed
    Score: 0.023
  4. Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. PLoS One. 2015; 10(5):e0127045.
    View in: PubMed
    Score: 0.023
  5. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. Pediatr Neurol. 2015 Jan; 52(1):56-64.
    View in: PubMed
    Score: 0.022
  6. 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: 0.020
  7. 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: 0.020
  8. 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: 0.019
  9. 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: 0.019
  10. 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: 0.016
  11. 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: 0.016
  12. Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One. 2009; 4(5):e5268.
    View in: PubMed
    Score: 0.015
  13. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome. Pediatrics. 2009 Mar; 123(3):e534-41.
    View in: PubMed
    Score: 0.015
  14. Perspectives on clinical trials in spinal muscular atrophy. J Child Neurol. 2007 Aug; 22(8):957-66.
    View in: PubMed
    Score: 0.013
  15. 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: 0.011
  16. Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. Ann Neurol. 2003; 54 Suppl 6:S49-55.
    View in: PubMed
    Score: 0.010
  17. Diagnosis and treatment of neurotransmitter-related disorders. Neurol Clin. 2002 Nov; 20(4):1143-61, viii.
    View in: PubMed
    Score: 0.009
  18. Motor unit number estimation in infants and children with spinal muscular atrophy. Muscle Nerve. 2002 Mar; 25(3):445-7.
    View in: PubMed
    Score: 0.009
  19. 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
  20. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 2000 Jul 25; 55(2):224-30.
    View in: PubMed
    Score: 0.008
  21. 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: 0.008
  22. 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
  23. Developing multidisciplinary clinics for neuromuscular care and research. Muscle Nerve. 2017 Nov; 56(5):848-858.
    View in: PubMed
    Score: 0.007
  24. Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation. Pediatr Neurol. 2017 Aug; 73:101-105.
    View in: PubMed
    Score: 0.006
  25. 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: 0.006
  26. 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: 0.006
  27. 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: 0.006
  28. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. J Med Genet. 2014 Dec; 51(12):806-13.
    View in: PubMed
    Score: 0.005
  29. 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
  30. 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
  31. Rasch analysis of clinical outcome measures in spinal muscular atrophy. Muscle Nerve. 2014 Mar; 49(3):422-30.
    View in: PubMed
    Score: 0.005
  32. SMA-MAP: a plasma protein panel for spinal muscular atrophy. PLoS One. 2013; 8(4):e60113.
    View in: PubMed
    Score: 0.005
  33. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Sep; 44(9):1030-4.
    View in: PubMed
    Score: 0.005
  34. Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. PLoS One. 2012; 7(4):e35462.
    View in: PubMed
    Score: 0.005
  35. 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
  36. 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
  37. 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
  38. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord. 2010 Aug; 20(8):499-504.
    View in: PubMed
    Score: 0.004
  39. 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: 0.004
  40. 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: 0.004
  41. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat. 2008 Sep; 29(9):E150-72.
    View in: PubMed
    Score: 0.004
  42. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord. 2008 Jun; 18(6):453-9.
    View in: PubMed
    Score: 0.003
  43. Spinal muscular atrophy: classification, diagnosis, management, pathogenesis, and future research directions. J Child Neurol. 2007 Aug; 22(8):926-45.
    View in: PubMed
    Score: 0.003
  44. Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling. J Child Neurol. 2007 Aug; 22(8):967-73.
    View in: PubMed
    Score: 0.003
  45. 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
  46. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004 Dec 28; 63(12):2280-7.
    View in: PubMed
    Score: 0.003
  47. Counting motor units in chronic motor neuropathies. Exp Neurol. 2003 Nov; 184 Suppl 1:S53-7.
    View in: PubMed
    Score: 0.003
  48. Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology. 2002 Aug 27; 59(4):613-7.
    View in: PubMed
    Score: 0.002
  49. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscul Disord. 1999 Dec; 9(8):564-72.
    View in: PubMed
    Score: 0.002
  50. 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.