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 Female.
Connection Strength

0.287
  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: 0.014
  2. 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: 0.014
  3. Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy. Neurology. 2020 03 03; 94(9):e921-e931.
    View in: PubMed
    Score: 0.014
  4. NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations. Neurology. 2016 Sep 13; 87(11):1131-9.
    View in: PubMed
    Score: 0.011
  5. Resistance strength training exercise in children with spinal muscular atrophy. Muscle Nerve. 2015 Oct; 52(4):559-67.
    View in: PubMed
    Score: 0.010
  6. 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: 0.010
  7. 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: 0.009
  8. 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: 0.009
  9. 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: 0.009
  10. 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: 0.009
  11. 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: 0.008
  12. 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: 0.007
  13. 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: 0.007
  14. Vascular perfusion abnormalities in infants with spinal muscular atrophy. J Pediatr. 2009 Aug; 155(2):292-4.
    View in: PubMed
    Score: 0.007
  15. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome. Pediatrics. 2009 Mar; 123(3):e534-41.
    View in: PubMed
    Score: 0.007
  16. Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives. J Child Neurol. 2007 Aug; 22(8):1019-26.
    View in: PubMed
    Score: 0.006
  17. 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: 0.005
  18. Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol. 2004 Jun; 55(6):884-7.
    View in: PubMed
    Score: 0.005
  19. Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. Ann Neurol. 2003; 54 Suppl 6:S49-55.
    View in: PubMed
    Score: 0.004
  20. 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: 0.004
  21. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 2000 Jul 25; 55(2):224-30.
    View in: PubMed
    Score: 0.004
  22. 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: 0.004
  23. Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype. Neurobiol Dis. 2020 07; 141:104881.
    View in: PubMed
    Score: 0.004
  24. Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment. J Clin Invest. 2019 11 01; 129(11):4817-4831.
    View in: PubMed
    Score: 0.003
  25. Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency. Neurology. 1999 Oct 12; 53(6):1205-11.
    View in: PubMed
    Score: 0.003
  26. 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: 0.003
  27. Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. Am J Med Genet A. 2019 08; 179(8):1575-1579.
    View in: PubMed
    Score: 0.003
  28. 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: 0.003
  29. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 11 05; 9(1):4619.
    View in: PubMed
    Score: 0.003
  30. 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: 0.003
  31. Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia. N Engl J Med. 2017 Dec 14; 377(24):2376-2385.
    View in: PubMed
    Score: 0.003
  32. Natural history of infantile-onset spinal muscular atrophy. Ann Neurol. 2017 Dec; 82(6):883-891.
    View in: PubMed
    Score: 0.003
  33. Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I. Muscle Nerve. 2018 02; 57(2):193-199.
    View in: PubMed
    Score: 0.003
  34. Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation. Pediatr Neurol. 2017 Aug; 73:101-105.
    View in: PubMed
    Score: 0.003
  35. Pregnancy and delivery in women with spinal muscular atrophy. Int J Neurosci. 2017 Nov; 127(11):953-957.
    View in: PubMed
    Score: 0.003
  36. 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: 0.003
  37. 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: 0.003
  38. 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: 0.003
  39. 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: 0.002
  40. Disclosure of genetic research results to members of a founder population. J Genet Couns. 2014 Dec; 23(6):984-91.
    View in: PubMed
    Score: 0.002
  41. 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: 0.002
  42. Seizure disorders: syndromes, diagnosis, and management. Compr Ther. 1994; 20(2):67-73.
    View in: PubMed
    Score: 0.002
  43. 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: 0.002
  44. Rasch analysis of clinical outcome measures in spinal muscular atrophy. Muscle Nerve. 2014 Mar; 49(3):422-30.
    View in: PubMed
    Score: 0.002
  45. 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: 0.002
  46. 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: 0.002
  47. LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol. 2013 Apr; 73(4):481-8.
    View in: PubMed
    Score: 0.002
  48. 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: 0.002
  49. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Sep; 44(9):1030-4.
    View in: PubMed
    Score: 0.002
  50. Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival? Pediatr Crit Care Med. 2012 May; 13(3):e161-5.
    View in: PubMed
    Score: 0.002
  51. Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. PLoS One. 2012; 7(4):e33572.
    View in: PubMed
    Score: 0.002
  52. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012 Jan 26; 1(1):2-12.
    View in: PubMed
    Score: 0.002
  53. 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: 0.002
  54. 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: 0.002
  55. Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy. Muscle Nerve. 2011 Aug; 44(2):246-51.
    View in: PubMed
    Score: 0.002
  56. 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: 0.002
  57. Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Hum Mutat. 2011 Mar; 32(3):299-308.
    View in: PubMed
    Score: 0.002
  58. 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: 0.002
  59. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord. 2010 Aug; 20(8):499-504.
    View in: PubMed
    Score: 0.002
  60. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord. 2010 Mar; 20(3):155-61.
    View in: PubMed
    Score: 0.002
  61. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80.
    View in: PubMed
    Score: 0.002
  62. 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
  63. 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
  64. 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
  65. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord. 2008 Jun; 18(6):453-9.
    View in: PubMed
    Score: 0.002
  66. A new distal arthrogryposis syndrome characterized by plantar flexion contractures. . 2006 Dec 15; 140(24):2797-801.
    View in: PubMed
    Score: 0.001
  67. Infant botulism in the age of botulism immune globulin. Neurology. 2005 Jun 28; 64(12):2029-32.
    View in: PubMed
    Score: 0.001
  68. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004 Dec 28; 63(12):2280-7.
    View in: PubMed
    Score: 0.001
  69. 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: 0.001
  70. V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme. J Biol Chem. 2002 Mar 01; 277(9):7136-43.
    View in: PubMed
    Score: 0.001
  71. 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
  72. Sources and physiological significance of plasma dopamine sulfate. J Clin Endocrinol Metab. 1999 Jul; 84(7):2523-31.
    View in: PubMed
    Score: 0.001
  73. [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.