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Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy 本体感觉突触功能障碍是小鼠和人类脊髓性肌萎缩症的一个关键特征。 Simon, Christian M.; Delestree, Nicolas; Montes, Jacqueline; Sowoidnich, Leonie; Gerstner, Florian; Carranza, Erick; Buettner, Jannik M.; Pagiazitis, John G.; Prat-Ortega, Genis; Ensel, Scott; Donadio, Serena; Dreilich, Vanessa; Carlini, Maria J.; Garcia, Jose L.; Kratimenos, Panagiotis; Chung, Wendy K.; Sumner, Charlotte J.; Weimer, Louis H.; Pirondini, Elvira; Capogrosso, Marco; Pellizzoni, Livio; De Vivo, Darryl C.; Mentis, George Z. 分享 收藏
Serial casting for contractures in SMA: consensus derived guidelines for treatment 脊髓性肌萎缩症（SMA）挛缩的系列石膏固定：治疗共识指南 Brown, Laurey; Hoffman, Katie; Corbo-Galli, Chiara; Kelley, Carolyn; Carry, Terri; Civitello, Matt; Coratti, Giorgia; Desanctis, Roberto; Duong, Tina; Driscoll, Brigid; Flickinger, Jean; Glanzman, Allan M.; Jones, Jennifer; Maczek, Elizabeth; Moat, Dionne; Montes, Jacqueline; Muni-Lofra, Robert; Nelson, Leslie; Pasternak, Amy; Valle, Melanie; Krosschell, Kristin J. 分享 收藏
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder KIF1A-associated神经系统疾病患者的反义寡核苷酸治疗 Ziegler, Alban; Carroll, Joanne; Bain, Jennifer M.; Sands, Tristan T.; Fee, Robert J.; Uher, David; Kanner, Cara H.; Montes, Jacqueline; Glass, Sarah; Douville, Julie; Mignon, Laurence; Gleeson, Joseph G.; Crooke, Stanley T.; Chung, Wendy K. 分享 收藏
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder Sudnawa, Khemika K.; Li, Wenxing; Calamia, Sean; Kanner, Cara H.; Bain, Jennifer M.; Abdelhakim, Aliaa H.; Geltzeiler, Alexa; Mebane, Caroline M.; Provenzano, Frank A.; Sands, Tristan T.; Fee, Robert J.; Montes, Jacqueline; Shen, Yufeng; Chung, Wendy K. 分享 收藏
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3 Nusinersen对2型和3型非卧床型脊髓性肌萎缩症患儿呼吸进展的治疗作用 Trucco, Federica; Ridout, Deborah; Weststrate, Harriet; Scoto, Mariacristina; Rohwer, Annemarie; Coratti, Giorgia; Main, Marion L.; Mayhew, Anna G.; Montes, Jacqueline; De Sanctis, Roberto; Pane, Marika; Pera, Maria Carmela; Sansone, Valeria A.; Albamonte, Emilio; D'Amico, Adele; Bruno, Claudio; Messina, Sonia S.; Childs, Anne-Marie; Willis, Tracey; Ong, Min T.; Servais, Laurent; Majumdar, Anirban; Hughes, Imelda; Marini-Bettolo, Chiara; Parasuraman, Deepak; Gowda, Vasantha L.; Baranello, Giovanni; Bertini, Enrico S.; De Vivo, Darryl C.; Darras, Basil T.; Day, John W.; Mayer, Oscar; Zolkipli-Cunningham, Zarazuela; Finkel, Richard S.; Mercuri, Eugenio; Muntoni, Francesco 分享 收藏
Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility 脊髓性肌萎缩症挛缩之外：识别下肢关节过度活动 Harding, Elizabeth R.; Kanner, Cara H.; Pasternak, Amy; Glanzman, Allan M.; Young, Sally Dunaway; Rao, Ashwini K.; McDermott, Michael P.; Zolkipli-Cunningham, Zarazuela; Day, John W.; Finkel, Richard S.; Darras, Basil T.; De Vivo, Darryl C.; Montes, Jacqueline 分享 收藏
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3 未经治疗的2型和3型脊髓性肌萎缩症患者队列中修订的Hammersmith量表中的疾病轨迹 Wolfe, Amy; Stimpson, Georgia; Ramsey, Danielle; Coratti, Giorgia; Young, Sally Dunaway; Mayhew, Anna; Pane, Marika; Rohwer, Annemarie; Lofra, Robert Muni; Duong, Tina; O'Reilly, Emer; Milev, Evelin; Civitello, Matthew; Sansone, Valeria A.; D'Amico, Adele; Bertini, Enrico; Messina, Sonia; Bruno, Claudio; Albamonte, Emilio; Mazzone, Elena; Main, Marion; Montes, Jacqueline; Glanzman, Allan M.; Zolkipli-Cunningham, Zarazuela; Pasternak, Amy; Marini-Bettolo, Chiara; Day, John W.; Darras, Basil T.; De Vivo, Darryl C.; Baranello, Giovanni; Scoto, Mariacristina; Finkel, Richard S.; Mercuri, Eugenio; Muntoni, Francesco 分享 收藏
Low Bone Mass in Ambulatory Spinal Muscular Atrophy: A Proactive Approach for an Often-Overlooked Impairment Trancho, Caitlin; Stickney, Bailey; Kinirons, Stacy; Uher, David; Kanner, Cara H.; Rao, Ashwini K.; Mcdermott, Michael P.; Garber, Carol Ewing; De Vivo, Darryl C.; Montes, Jacqueline 分享 收藏
Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder Kanner, Cara H.; Uher, David; Zreibe, Kyle; Beard, Gabriella; Patterson, Madison; Harris, Matthew; Doerger, Jerome; Calamia, Sean; Chung, Wendy K.; Montes, Jacqueline 分享 收藏
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Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function Nusinersen治疗晚发性脊髓性肌萎缩症和脊柱侧凸的儿童与运动功能的改善或稳定有关 Young, Sally Dunaway; Montes, Jacqueline; Glanzman, Allan M.; Gee, Richard; Day, John W.; Finkel, Richard S.; Darras, Basil T.; De Vivo, Darryl C.; Gambino, Giulia; Foster, Richard; Wong, Janice; Garafalo, Steve; Berger, Zdenek 分享 收藏
Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities 测量脊髓性肌萎缩症 (SMA) 的乏力和疲劳性: 挑战和机遇 Rodriguez-Torres, Rafael S.; Uher, David; Gay, Emma L.; Coratti, Giorgia; Young, Sally Dunaway; Rohwer, Annemarie; Muni Lofra, Robert; De Vivo, Darryl C.; Hirano, Michio; Glynn, Nancy W.; Montes, Jacqueline 分享 收藏
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants 未经治疗的儿科2型和3型SMA参与者的大型队列中修订的Hammersmith量表评分的2年变化 Stimpson, Georgia; Ramsey, Danielle; Wolfe, Amy; Mayhew, Anna; Scoto, Mariacristina; Baranello, Giovanni; Muni Lofra, Robert; Main, Marion; Milev, Evelin; Coratti, Giorgia; Pane, Marika; Sansone, Valeria; D'Amico, Adele; Bertini, Enrico; Messina, Sonia; Bruno, Claudio; Albamonte, Emilio; Mazzone, Elena Stacy; Montes, Jacqueline; Glanzman, Allan M.; Zolkipli-Cunningham, Zarazuela; Pasternak, Amy; Duong, Tina; Dunaway Young, Sally; Civitello, Matthew; Marini-Bettolo, Chiara; Day, John W.; Darras, Basil T.; De Vivo, Darryl C.; Finkel, Richard S.; Mercuri, Eugenio; Muntoni, Francesco 分享 收藏
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results 致力于探索高剂量Nusinersen治疗脊髓性肌萎缩症的研究: 研究设计和A部分结果 Finkel, Richard S.; Day, John W.; Pascual Pascual, Samuel Ignacio; Ryan, Monique M.; Mercuri, Eugenio; De Vivo, Darryl C.; Montes, Jacqueline; Gurgel-Giannetti, Juliana; Monine, Michael; Gambino, Giulia; Makepeace, Corinne; Foster, Richard; Berger, Zdenek 分享 收藏
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