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Kathryn J. Swoboda

department of neurology

71H指数
262论文数
1.9W被引数
收录论文 91
发表时间
Spinal Muscular Atrophy Among US Hutterites: Phenotype Variability in the Setting of Conserved Ancestral Haplotype and 4 SMN2 Copies脊髓性肌萎缩症在美国胡特尔人中的分布:在保守的祖先单倍型及4个SMN2拷贝背景下的表型变异
err2026-02-12
err0
PREAI
errMatthew E.R. Butchbach; Jennifer J. Kale; Sarah D. Simeone; Jin Yun Helen Chen; Rebecca L. Anderson; Adriana Y. Prichina; Daniela Del Gaudio; Deborah L. Stabley; Jennifer Holbrook; Eliad Culcea; Carole Ober; Kathryn J. Swoboda
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Early life safety profiling of gene therapy for spinal muscular atrophy脊髓性肌萎缩基因疗法的早期安全性评估
err2025-04-01
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errOAAI
errRebecca G. Spellman; Leillani L. Ha; Salomé Da Silva Duarte Lepez; Elizabeth A. Arruda; Emma Rodrigues; Kathryn J. Swoboda; Christiano R. R. Alves
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Physical performance and plasma metabolic profile as potential prognostic factors in metastatic lung cancer patients
err2024-07-26
err1
errOAAI
errdas Neves, Willian; Alves, Christiano R. R.; dos Santos, Gabriela; Alves, Maria-Janieire N. N.; Deik, Amy; Pierce, Kerry; Dennis, Courtney; Buckley, Lily; Clish, Clary B.; Swoboda, Kathryn J.; Brum, Patricia C.; de Castro Junior, Gilberto
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Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophy用于SMN2功能矫正的碱基编辑器的优化,以治疗脊髓性肌萎缩症
err2023-12-06
err5
errOAAI
errAlves, Christiano R. R.; Ha, Leillani L.; Yaworski, Rebecca; Sutton, Emma R.; Lazzarotto, Cicera R.; Christie, Kathleen A.; Reilly, Aoife; Beauvais, Ariane; Doll, Roman M.; de la Cruz, Demitri; Maguire, Casey A.; Swoboda, Kathryn J.; Tsai, Shengdar Q.; Kothary, Rashmi; Kleinstiver, Benjamin P.
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Baseline Characteristics and Interim Safety in RESPOND: A Phase 4 Study in Children with Spinal Muscular Atrophy (SMA) Treated With Nusinersen After Onasemnogene Abeparvovec
err2023-04-25
err1
PREAI
errKuntz, Nancy; Parsons, Julie; Brandsema, John F.; Proud, Crystal; Finkel, Richard; Swoboda, Kathryn; Masson, Ricardo; Liu, Yingying; Makepeace, Corinne; Paradis, Angela; Berger, Zdenek; Somera-Molina, Kathleen
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De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
err2022-08-19
err17
errOAAI
errJia, Xiangbin; Zhang, Shujie; Tan, Senwei; Du, Bing; He, Mei; Qin, Haisong; Chen, Jia; Duan, Xinyu; Luo, Jingsi; Chen, Fei; Ouyang, Luping; Wang, Jian; Chen, Guodong; Yu, Bin; Zhang, Ge; Zhang, Zimin; Lyu, Yongqing; Huang, Yi; Jiao, Jian; Chen, Jin Yun Helen; Swoboda, Kathryn J.; Agolini, Emanuele; Novelli, Antonio; Leoni, Chiara; Zampino, Giuseppe; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Gerard, Benedicte; Ginglinger, Emmanuelle; Richer, Julie; McMillan, Hugh; White-Brown, Alexandre; Hoekzema, Kendra; Bernier, Raphael A.; Kurtz-Nelson, Evangeline C.; Earl, Rachel K.; Meddens, Claartje; Alders, Marielle; Fuchs, Meredith; Caumes, Roseline; Brunelle, Perrine; Smol, Thomas; Kuehl, Ryan; Day-Salvatore, Debra-Lynn; Monaghan, Kristin G.; Morrow, Michelle M.; Eichler, Evan E.; Hu, Zhengmao; Yuan, Ling; Tan, Jieqiong; Xia, Kun; Shen, Yiping; Guo, Hui
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Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
err2022-06-17
err143
errOAAI
errStrauss, Kevin A.; Farrar, Michelle A.; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R.; Servais, Laurent; McMillan, Hugh J.; Finkel, Richard S.; Swoboda, Kathryn J.; Kwon, Jennifer M.; Zaidman, Craig M.; Chiriboga, Claudia A.; Iannaccone, Susan T.; Krueger, Jena M.; Parsons, Julie A.; Shieh, Perry B.; Kavanagh, Sarah; Wigderson, Melissa; Tauscher-Wisniewski, Sitra; McGill, Bryan E.; Macek, Thomas A.
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Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
err2022-06-17
err152
errOAAI
errStrauss, Kevin A.; Farrar, Michelle A.; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R.; Servais, Laurent; McMillan, Hugh J.; Finkel, Richard S.; Swoboda, Kathryn J.; Kwon, Jennifer M.; Zaidman, Craig M.; Chiriboga, Claudia A.; Iannaccone, Susan T.; Krueger, Jena M.; Parsons, Julie A.; Shieh, Perry B.; Kavanagh, Sarah; Tauscher-Wisniewski, Sitra; McGill, Bryan E.; Macek, Thomas A.
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An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy
err2022-05-14
err25
errOAAI
errKwon, Jennifer M.; Arya, Kapil; Kuntz, Nancy; Phan, Han C.; Sieburg, Cory; Swoboda, Kathryn J.; Veerapandiyan, Aravindhan; Assman, Beverly; Bader-Weder, Silvia; Dickendesher, Travis L.; Hansen, Jennifer; Lin, Helen; Yan, Ying; Rao, Vamshi K.
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Cancer-induced muscle atrophy is determined by intrinsic muscle oxidative capacity
err2021-06-12
err11
PREAI
errAlves, Christiano R. R.; Eichelberger, Eric J.; das Neves, Willian; Ribeiro, Marcio A. C.; Bechara, Luiz R. G.; Voltarelli, Vanessa A.; de Almeida, Ney R.; Hagen, Lars; Sharma, Animesh; Ferreira, Julio C. B.; Swoboda, Kathryn J.; Slupphaug, Geir; Brum, Patricia C.
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Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy马萨诸塞州对全州新生儿进行脊髓性肌萎缩症筛查的结果
err2021-05-23
err23
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errHale, Jaime E.; Darras, Basil T.; Swoboda, Kathryn J.; Estrella, Elicia; Chen, Jin Yun Helen; Abbott, Mary-Alice; Hay, Beverly N.; Kumar, Binod; Counihan, Anne M.; Gerstel-Thompson, Jacalyn; Sahai, Inderneel; Eaton, Roger B.; Comeau, Anne Marie
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Increased systemic HSP70B levels in spinal muscular atrophy infants
err2021-05-15
err8
errOAAI
errEichelberger, Eric J.; Alves, Christiano R. R.; Zhang, Ren; Petrillo, Marco; Cullen, Patrick; Farwell, Wildon; Hurt, Jessica A.; Staropoli, John F.; Swoboda, Kathryn J.
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Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA
err2021-01-27
err65
errOAAI
errKong, Lingling; Valdivia, David O.; Simon, Christian M.; Hassinan, Cera W.; Delestree, Nicolas; Ramos, Daniel M.; Park, Jae Hong; Pilato, Celeste M.; Xu, Xixi; Crowder, Melissa; Grzyb, Chloe C.; King, Zachary A.; Petrillo, Marco; Swoboda, Kathryn J.; Davis, Crystal; Lutz, Cathleen M.; Stephan, Alexander H.; Zhao, Xin; Weetall, Marla; Naryshkin, Nikolai A.; Crawford, Thomas O.; Mentis, George Z.; Sumner, Charlotte J.
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Exercise training reverses cancer-induced oxidative stress and decrease in muscle COPS2/TRIP15/ALIEN
err2020-09-01
err24
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errAlves, Christiano R. R.; das Neves, Willian; de Almeida, Ney R.; Eichelberger, Eric J.; Jannig, Paulo R.; Voltarelli, Vanessa A.; Tobias, Gabriel C.; Bechara, Luiz R. G.; Faria, Daniele de Paula; Alves, Maria J. N.; Hagen, Lars; Sharma, Animesh; Slupphaug, Geir; Moreira, Jose B. N.; Wisloff, Ulrik; Hirshman, Michael F.; Negrao, Carlos E.; de Castro, Gilberto, Jr.; Chammas, Roger; Swoboda, Kathryn J.; Ruas, Jorge L.; Goodyear, Laurie J.; Brum, Patricia C.
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Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype
err2020-07-01
err10
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errSnow, John P.; Westlake, Grant; Klofas, Lindsay K.; Jeon, Soyoun; Armstrong, Laura C.; Swoboda, Kathryn J.; George, Alfred L., Jr.; Ess, Kevin C.
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Whole-blood dysregulation of actin-cytoskeleton pathway in adult spinal muscular atrophy patients
err2020-06-17
err10
errOAAI
errSiranosian, Jennifer J.; Nery, Flavia C.; Alves, Christiano R. R.; Siranosian, Benjamin A.; Lyons, Nicholas J.; Eichelberger, Eric J.; Garner, Reid; Da Silva Duarte Lepez, Salome; Johnstone, Alec J.; Subramanian, Aravind; Swoboda, Kathryn J.
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Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy
err2020-03-03
err54
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errAlves, Christiano R. R.; Zhang, Ren; Johnstone, Alec J.; Garner, Reid; Nwe, Pann H.; Siranosian, Jennifer J.; Swoboda, Kathryn J.
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AVXS-101 IN PRESYMPTOMATIC SPINAL MUSCULAR ATROPHY (SMA)
err2019-11-14
err0
PREAI
errStrauss, Kevin A.; Swoboda, Kathryn J.; Farrar, Michelle A.; McMillan, Hugh J.; Parsons, Julie; Krueger, Jena M.; Iannaccone, Susan T.; Chiriboga, Claudia A.; Kwon, Jennifer M.; Saito, Kayoko; Scoto, Mariacristina; Kausar, Imran; Schultz, Meredith; Kernbauer, Elaine; Farrow, Marcia; Ogrinc, Francis G.; Kavanagh, Sarah; Feltner, Douglas E.; McGill, Bryan E.; Spector, Sidney A.; L'Italien, James; Sproule, Douglas M.; Muntoni, Francesco
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