Dr. Kathryn Swoboda, MD

• Neurology

• Clinical Neurophysiology

• Muscle Disorders

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• Childrens Hospital|lahey Hitchcock Clin

  Fellowship Hospital, 1997

• Brigham And Womens Hospital Harvard Med School

  Residency Hospital, 1994

• Evanston Hospital

  Internship Hospital, 1991

• Northwestern University Feinberg School Of Medicine

  Medical School, 1990

• Complete sequencing of theSMN2gene in SMA patients detectsSMNgene deletion junctions and variants inSMN2that modify the SMA phenotype, 2019-02-20

• Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy, 2021-05-23

• De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders, 2022-08-01

• SMN1andSMN2copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR, 2015-03-21

• CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language, 2018-11-05

• Onasemnogene abeparvovec for presymptomatic infants with three copies ofSMN2at risk for spinal muscular atrophy: the Phase III SPR1NT trial, 2022-06-17

• Natural history of 10-meter walk/run test performance in Spinal Muscular Atrophy: A longitudinal analysis, 2021-08-24

• Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA, 2021-01-27

• Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language, 2019-02-15

• Onasemnogene abeparvovec for presymptomatic infants with two copies ofSMN2at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial, 2022-06-17

• Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language, 2019-05-02

• Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR, 2017-02-06

• Whole-blood dysregulation of actin-cytoskeleton pathway in adult spinal muscular atrophy patients SIRANOSIANet al., 2020-06-17

• RESPONSES TO FASTING AND GLUCOSE LOADING IN A COHORT OF WELL CHILDREN WITH SPINAL MUSCULAR ATROPHY TYPE II, 2015-10-09