未登录 Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study SCN1A Dravet综合征幼儿的认知停滞和执行功能缺陷: ENVISION自然史研究中的发病，进展和影响的详细特征 Sullivan, Joseph; Perry, M. Scott; Scheffer, Ingrid E.; Wheless, James; Boronat, Susana; Brunklaus, Andreas; Laux, Linda; Patel, Anup D.; Roberts, Colin; Dlugos, Dennis; Holder, Deborah; Knupp, Kelly; Lallas, Matt; Phillips, Steven; Segal, Eric; Lal, Dennis; Wirrell, Elaine; Zuberi, Sameer; Gioia, Gerard; Shaffer, Rebecca; Berl, Madison M.; Wojnaroski, Mary; Christensen, Sarah; King, Alexander; James, Emma S.; Vila, Maria Candida; Huang, Norman; Gofshteyn, Jacqueline S.; Rico, Salvador 分享 收藏
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial Lawlor, Michael W.; Schoser, Benedikt; Margeta, Marta; Sewry, Caroline A.; Jones, Karra A.; Shieh, Perry B.; Kuntz, Nancy L.; Smith, Barbara K.; Dowling, James J.; Mueller-Felber, Wolfgang; Boennemann, Carsten G.; Seferian, Andreea M.; Blaschek, Astrid; Neuhaus, Sarah; Foley, A. Reghan; Saade, Dimah N.; Tsuchiya, Etsuko; Qasim, Ummulwara R.; Beatka, Margaret; Prom, Mariah J.; Ott, Emily; Danielson, Susan; Krakau, Paul; Kumar, Suresh N.; Meng, Hui; Vanden Avond, Mark; Wells, Clive; Gordish-Dressman, Heather; Beggs, Alan H.; Christensen, Sarah; Conner, Edward; James, Emma S.; Lee, Jun; Sadhu, Chanchal; Miller, Weston; Sepulveda, Bryan; Varfaj, Fatbardha; Prasad, Suyash; Rico, Salvador 分享 收藏
Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study Perry, M. Scott; Scheffer, Ingrid E.; Sullivan, Joseph; Brunklaus, Andreas; Boronat, Susana; Wheless, James W.; Laux, Linda; Patel, Anup D.; Roberts, Colin M.; Dlugos, Dennis; Holder, Deborah; Knupp, Kelly G.; Lallas, Matt; Phillips, Steven; Segal, Eric; Smeyers, Patricia; Lal, Dennis; Wirrell, Elaine; Zuberi, Sameer; Bruenger, Tobias; Wojnaroski, Mary; Maru, Benit; O'Donnell, Penrose; Morton, Magda; James, Emma; Vila, Maria Candida; Huang, Norman; Gofshteyn, Jacqueline S.; Rico, Salvador 分享 收藏
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy Dowling, James J.; Mueller-Felber, Wolfgang; Smith, Barbara K.; Bonnemann, Carsten G.; Kuntz, Nancy L.; Muntoni, Francesco; Servais, Laurent; Alfano, Lindsay N.; Beggs, Alan H.; Bilder, Deborah A.; Blaschek, Astrid; Duong, Tina; Graham, Robert J.; Jain, Minal; Lawlor, Michael W.; Lee, Jun; Coats, Julie; Lilien, Charlotte; Lowes, Linda P.; MacBean, Victoria; Neuhaus, Sarah; Noursalehi, Mojtaba; Pitts, Teresa; Finlay, Caroline; Christensen, Sarah; Rafferty, Gerrard; Seferian, Andreea M.; Tsuchiya, Etsuko; James, Emma S.; Miller, Weston; Sepulveda, Bryan; Vila, Maria Candida; Prasad, Suyash; Rico, Salvador; Shieh, Perry B. 分享 收藏
Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance Duong, Tina; Harding, Gale; Mannix, Sally; Abel, Cristina; Phillips, Dawn; Alfano, Lindsay N.; Bonnemann, Carsten G.; Lilien, Charlotte; Lowes, Linda P.; Servais, Laurent; Warken-Madelung, Birgit; Bergman, Susie Nieto; James, Emma S.; Noursalehi, Mojtaba; Prasad, Suyash; Rico, Salvador; Bilder, Deborah A. 分享 收藏
Pre-clinical safety and efficacy findings of AT845, a novel gene replacement therapy for Pompe disease targeting skeletal muscle and heart Mavilio, Fulvio; Cunningham, Justine; Eggers, Michelle; Heffner, Garrett; Stinchcombe, Tim; Brassard, Jacqueline; Chaivorapol, Christina; Gray, John; Prasad, Suyash; James, Emma; Rico, Salvador 分享 收藏
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Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons Lawlor, Michael W.; Beggs, Alan H.; Buj-Bello, Ana; Childers, Martin K.; Dowling, James J.; James, Emma S.; Meng, Hui; Moore, Steven A.; Prasad, Suyash; Schoser, Benedikt; Sewry, Caroline A. 分享 收藏
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