基本信息
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职业迁徙
个人简介
Kathryn J. Swoboda is the Katherine B. Sims M.D. Endowed Chair in Neurogenetics and Director of the Neurogenetics Program at Massachusetts General Hospital and Harvard Medical School. Dr. Swoboda received her medical degree at The Northwestern Feinberg School of Medicine in Chicago. She completed her neurology residency at the Harvard Longwood Neurology Program at the Brigham and Women’s Hospital, and additional subspecialty training in Clinical Genetics and Neuromuscular disease/ Neurophysiology at Boston Children’s Hospital and the Lahey-Hitchcock Clinic. Dr. Swoboda’s research and clinical activities are dedicated to the diagnosis and treatment of neurogenetic disorders, especially neuromuscular diseases, movement disorders and neurodegenerative disorders with childhood-onset. Her efforts include gene discovery, genotype/phenotype correlations and studies targeting the underlying molecular disease pathogenesis, biomarker development and treatment of inherited disorders affecting the motor system. She has directed and collaborated in numerous clinical trials and studies in children with spinal muscular atrophy (SMA), alternating hemiplegia of childhood (AHC), and inherited disorders of neurotransmitter biosynthesis and metabolism. She has pioneered effective paradigms to facilitate pre-symptomatic genetic diagnosis and treatment for SMA and other infantile and childhood-onset neurodegenerative disorders. She has received funding from the National Institutes of Child Health and Development, the National Institutes of Neurologic Disease and Stroke, Cure SMA, Fight SMA, the Muscular Dystrophy Association, the SMA Foundation, and the Alternating Hemiplegia of Childhood Foundation.
研究兴趣
论文共 286 篇作者统计合作学者相似作者
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NATURE BIOMEDICAL ENGINEERINGno. 2 (2024): 118-+
MOLECULAR THERAPYno. 4 (2023): 259-259
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Thomas J. Crawford,Kathryn C. Swoboda,Darryl De Vivo,Enrico Bertini,Wuh-Liang S. Hwu,Richard Finkel,Janbernd L. Kirschner,Nancy Kuntz,Aledie Navas A. Nazario,Julie Parsons,Astrid M. Pechmann,M. Monique M. J. Ryan,Russell Butterfield,Haluk Topaloglu,Tawfeg A. Ben-Omran,Valeria Sansone,Yuh-Jyh Jong,Francy Shu, Cong Zhu, Stephanie R. Raynaud, Tiffany D. Lago,Angela Paradis,Richard Foster, Russell Chin,Zdenek Berger, NURTURE Study Grp
Muscle & nerveno. 2 (2023): 157-170
Willian das Neves,Christiano R R Alves,Gabriela Santos, Janieire Alves,Amy Deik,Kerry Pierce,Courtney Dennis, Lily Buckley,Clary B Clish,Kathryn Swoboda,Patricia Brum,Gilberto de Castro
medRxiv (Cold Spring Harbor Laboratory) (2023)
J. Parsons,N. Kuntz,J. Brandsema,C. Proud,R. Finkel,K. Swoboda,R. Masson,R. Foster,Y. Liu,C. Makepeace, S. Singhi,A. Paradis,Z. Berger, S. Rane,K. Somera-Molina
Neuromuscular Disorders (2023): S87-S87
biorxiv(2023)
NEUROLOGYno. 17 (2023)
J. Parsons,N. Kuntz,J. Brandsema,C. Proud,R. Finkel,K. Swoboda,R. Masson,R. Foster,Y. Liu,C. Makepeace, S. Singhi,A. Paradis,Z. Berger, S. Rane,K. Somera-Molina
Neuromuscular Disorders (2023): S87-S87
Neuromuscular Disorders (2022): S86-S86
J. Kirschner,T. Crawford,M. Ryan,R. Finkel,K. Swoboda,D. De Vivo,E. Bertini, H. Hwu,V. Sansone,A. Pechmann,J. Montes, D. Krasinski,R. Chin,Z. Berger, C. Zhu,S. Raynaud,A. Paradis, N. Johnson
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作者统计
#Papers: 291
#Citation: 13182
H-Index: 62
G-Index: 111
Sociability: 8
Diversity: 3
Activity: 51
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