Katherine B. Sims Chair in Neurogenetics Massachusetts General Hospital
Neurology
Dr. Kathryn J. Swoboda, MD
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Kathryn Swoboda works in the field of Neurology. She studied medicine at Northwestern University Feinberg School of Medicine. Northwestern University Feinberg School of Medicine has a rank of 19 in research and a 29 in primary care Dr. Kathryn J. Swoboda is a published physician. She published 92 publications, including: '[Comparison of anxiety in patients before surgery for varicose veins and laparoscopic cholecystectomy].'
Publications
- Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with Spinal muscular atrophy.
- Baseline results of the NeuroNEXT Spinal muscular atrophy infant biomarker study.
- Resistance Strength Training Exercise in Children with Spinal Muscular Atrophy.
- The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and ...
- Disclosure of Genetic Research Results to Members of a Founder Population.
- Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.
- Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN.
- A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
- Nutritional Practices at a Glance: Spinal Muscular Atrophy Type I Nutrition Survey Findings.
- 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.
- SMA VALIANT Trial: A prospective, double-blind, placebo controlled trial of valproic acid in ambulatory adults with Spinal muscular atrophy.
- Public attitudes regarding a pilot study of newborn screening for Spinal muscular atrophy.
- Vitamin D Intake Is Inadequate in Spinal Muscular Atrophy Type I Cohort: Correlations With Bone Health.
- LTBP4 genotype predicts age of ambulatory loss in duchenne Muscular dystrophy.
- Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with Spinal muscular atrophy type I.
- Spinal muscular atrophy type 1: Are proactive respiratory interventions associated with longer survival?
- Population Pharmacokinetics of Valproic Acid in Pediatric Patients With Epilepsy: Considerations for Dosing Spinal Muscular Atrophy Patients.
- New Therapeutic Approaches to Spinal Muscular Atrophy.
- Of SMN in mice and men: a therapeutic opportunity.
- A common Spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.
- Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects.
- Alpha-synuclein loss in Spinal muscular atrophy.
- Compound muscle action potential and motor function in children with Spinal muscular atrophy.
- Seize the day: Newborn screening for SMA.
- A positive modifier of Spinal muscular atrophy in the SMN2 gene.
- Vascular perfusion abnormalities in infants with Spinal muscular atrophy.
- Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome.
- Phase II open label study of valproic acid in Spinal muscular atrophy.
- Subacute combined degeneration of the Spinal cord in cblC disorder despite treatment with B12.
- Escaping the nuclear confines: signal-dependent pre-mRNA splicing in anucleate platelets.
- Natural history of denervation in SMA: relation to age, SMN2 copy number, and function.
- Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.
- Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.
- Counting motor units in chronic motor neuropathies.
- An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.
- Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes.
- Diagnosis and treatment of neurotransmitter-related disorders.
- V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.
- Motor unit number estimation in infants and children with Spinal muscular atrophy.
- SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials.
- Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
- Perceptions of equine-assisted activities and therapies by parents and children with Spinal muscular atrophy.
- SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy.
- Reliability and Validity of the TIMPSI for Infants With Spinal Muscular Atrophy Type I.
- Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital Muscular dystrophy and Bethlem myopathy.
- Infant botulism in the age of botulism immune globulin.
- Extracorporeal lipid elimination for treatment of gestational hyperlipidemic pancreatitis.
- [Hyperlipidemia-induced pancreatitis in pregnancy. Successful long-term treatment by extracorporeal elimination of triglyceride-rich lipoproteins].
- [Tubular changes in normal pregnancy and EPH gestosis. Diagnosis by N-acetyl-beta-D-glucosaminidase].
- Anti-interleukin-1 alpha autoantibodies in hemodialysis patients.
- Comparison of plasma separation and immunospecific LDL-elimination in severe hypercholesterolemia.
- [Comparison of anxiety in patients before surgery for varicose veins and laparoscopic cholecystectomy].
- Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.
- The Children''s Hospital of Philadelphia Infant Test of NeuroMuscular Disorders (CHOP INTEND): test development and reliability.
- Expanding CEP290 mutational spectrum in ciliopathies.
- 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.
- Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet.
- Mutilating hand syndrome in an infant with familial carpal tunnel syndrome.
- Frontal abnormalities in a patient with obsessive-compulsive disorder: the role of structural lesions in obsessive-compulsive behavior.
- Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12.
- Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.
- Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.
- Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.
- Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
- Sources and physiological significance of plasma dopamine sulfate.
- Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.
- Seizure disorders: syndromes, diagnosis, and management.
- Paroxysmal kinesigenic dyskinesia and infantile convulsions. Clinical and linkage studies. 2000.
- Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.
- Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA.
- A new distal arthrogryposis syndrome characterized by plantar flexion contractures.
- Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.
- Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
- A modified Hammersmith functional motor scale for use in multi-center research on Spinal muscular atrophy.
- An unusual pathologic feature associated with dermatomyositis.
- Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
- Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.
- Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
- Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
- Spinal muscular atrophy genetic counseling access and genetic knowledge: parents'' perspectives.
- Congenital bone fractures in Spinal muscular atrophy: functional role for SMN protein in bone remodeling.
- Perspectives on clinical trials in Spinal muscular atrophy.
- Spinal muscular atrophy: classification, diagnosis, management, pathogenesis, and future research directions.
- Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of Spinal muscular atrophy.
- A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22.
- TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
- SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in Spinal muscular atrophy.
- SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with Spinal muscular atrophy.
- Reliability of the Modified Hammersmith Functional Motor Scale in young children with Spinal muscular atrophy.
- Clinical and genetic characterization of manifesting carriers of DMD mutations.
- Nonsense mutation-associated Becker Muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Schools
Northwestern University The Feinberg School Of Medicine
Evanston Hospital
Brigham and Womens Hospital Harvard Med School
Childrens Hospital
Lahey Hitchcock Clin
Procedures Preformed
- EMG (Electromyography)
Conditions Treated
- Ataxia
- Spinal Muscular Atrophy (SMA)
Doctors Specialties
- Clinical Neurophysiology
- Neurology
Accepted Insurances
Education
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Harvard Affiliated Hospitals -
Northwestern University Feinberg School of Medicine
Hospital
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Massachusetts General Hospital