Kathleen J. Sweadner

机构：Massachusetts General Hospital · ORCID：0000-0002-2817-5262

发表论文 143 篇 · 总被引 8680 次 · h-index 50

代表论文

• Distinct neurological disorders with ATP1A3 mutations (2014 · The Lancet Neurology · 被引 254)
• Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly (2015 · Epilepsia · 被引 125)
• Research conference summary from the 2014 International Task Force on ATP1A3 -Related Disorders (2017 · Neurology Genetics · 被引 70)
• Genotype-structure-phenotype relationships diverge in paralogs ATP1A1 , ATP1A2 , and ATP1A3 (2019 · Neurology Genetics · 被引 53)
• Revising rapid‐onset dystonia–parkinsonism: Broadening indications for ATP1A3 testing (2019 · Movement Disorders · 被引 50)
• Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition (2019 · Neurobiology of Disease · 被引 47)