# Kathryn J. Swoboda

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/kathryn-j-swoboda/

## Facts

| Field | Value |
| --- | --- |
| Citations | 18,601 |
| Field | Neurogenetic and Muscular Disorders Research |
| h-index | 71 |
| i10-index | 157 |
| Last Known Institution | Harvard University |
| OpenAlex ID | https://openalex.org/A5074269053 |
| ORCID iD | https://orcid.org/0000-0002-4593-6342 |
| Works | 259 |

## Researcher papers

- [Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care](https://scholariq.org/papers/diagnosis-and-management-of-spinal-muscular-atrophy-part-1-recommendations-for/)
- [Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study](https://scholariq.org/papers/nusinersen-initiated-in-infants-during-the-presymptomatic-stage-of-spinal/)
- [De novo mutations in ATP1A3 cause alternating hemiplegia of childhood](https://scholariq.org/papers/de-novo-mutations-in-atp1a3-cause-alternating-hemiplegia-of-childhood/)
- [TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum](https://scholariq.org/papers/ttc21b-contributes-both-causal-and-modifying-alleles-across-the-ciliopathy/)
- [Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial](https://scholariq.org/papers/onasemnogene-abeparvovec-for-presymptomatic-infants-with-two-copies-of-smn2-at/)
- [Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial](https://scholariq.org/papers/onasemnogene-abeparvovec-for-presymptomatic-infants-with-three-copies-of-smn2-at/)
- [Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions](https://scholariq.org/papers/mutations-in-the-gene-prrt2-cause-paroxysmal-kinesigenic-dyskinesia-with/)
- [Nusinersen in later-onset spinal muscular atrophy](https://scholariq.org/papers/nusinersen-in-later-onset-spinal-muscular-atrophy/)

## Researcher topics

- [Neurogenetic and Muscular Disorders Research](https://scholariq.org/topics/neurogenetic-and-muscular-disorders-research/)
- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)
- [Muscle Physiology and Disorders](https://scholariq.org/topics/muscle-physiology-and-disorders/)
- [Congenital Anomalies and Fetal Surgery](https://scholariq.org/topics/congenital-anomalies-and-fetal-surgery/)
- [Cardiomyopathy and Myosin Studies](https://scholariq.org/topics/cardiomyopathy-and-myosin-studies/)

## Researcher university

- [Harvard University](https://scholariq.org/institutions/harvard-university/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.