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An Antibody-Oligonucleotide Conjugate for Myotonic Dystrophy Type 1 约翰逊，N.E.；台，L.-J.；哈梅尔，J.I.；戴，J.W.；斯塔特兰德，J.M.；索尔坦扎德，P.；苏布拉莫尼，S.H.；桑顿，C.A.；阿诺德，W.D.；威克伦德，M.；等。用于1型肌营养不良症的抗体-寡核苷酸缀合物。N. Engl. J. Med. 2026, 394, 763–772. [Google Scholar] [CrossRef] Johnson, Nicholas E.; Tai, Li-Jung; Hamel, Johanna I.; Day, John W.; Statland, Jeffrey M.; Soltanzadeh, Payam; Subramony, Sankarasubramoney H.; Thornton, Charles A.; Arnold, W. David; Wicklund, Matthew; Freimer, Miriam L.; Eichinger, Kate; Dekdebrun, Jeanne; Chen, Chao-Yin; Goel, Varun; McEvoy, Bradley; Zhu, Yiming; Hughes, Steven G.; Ackermann, Elizabeth J.; Levin, Arthur A. 分享 收藏
Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study 在强直性肌营养不良1型中建立生物标志物和临床终点(END-DM1)：一项国际性自然病史研究的方案 Mul, Karlien; Eichinger, Kate; Hung, Man; Sansone, Valeria A.; Gagnon, Cynthia; Subramony, Sub; Roxburgh, Richard H.; Hamel, Johanna; Statland, Jeffrey M.; Elsheikh, Bakri; Turner, Chris; Sampson, Jacinda; Ragole, Thomas; Matthews, Emma; Schoser, Benedikt; Swenson, Andrea; Laverty, Chamindra; Shieh, Perry; Greene, Ericka P.; Takahashi, Masanori; Wicklund, Matthew; Dekdebrun, Jeanne; Raymond, Jennifer; Despain, Erin; Thornton, Charles A.; Johnson, Nicholas E. 分享 收藏
Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy 研究睾酮和重组人生长激素在面肩肱型肌营养不良中的作用 Heatwole, Chad Rydel; Luebbe, Elizabeth; Hamel, Johanna; Mongiovi, Phillip C.; Ciafaloni, Emma; Dilek, Nuran; Martens, William B.; Weber, David R.; Rashid, Hani; Allen McKeown, Jamie; Smith, Claire H.; Howell, Samantha; Rosero, Spencer Z.; Eichinger, Katy; Baker, Lindsay S.; Dekdebrun, Jeanne M.; Hilbert, James E.; Varma, Anika; Thornton, Charles A.; McDermott, Michael P.; Moxley III, Richard T. 分享 收藏
FORCE platform overcomes barriers of oligonucleotide delivery to muscle and corrects myotonic dystrophy features in preclinical models Weeden, Timothy; Picariello, Tyler; Quinn, Brendan; Spring, Sean; Shen, Pei-Yi; Qiu, Qifeng; Vieira, Benjamin F.; Schlaefke, Lydia; Russo, Ryan J.; Chang, Ya-An; Cui, Jin; Yao, Monica; Wen, Aiyun; Hsia, Nelson; Evron, Tama; Ovington, Katy; Tsai, Pei-Ni; Yoder, Nicholas; Lan, Bo; Venkatesan, Reshmii; Hall, John; Desjardins, Cody A.; Qatanani, Mo; Hilderbrand, Scott; Najim, John; Tang, Zhenzhi; Tanner, Matthew K.; Subramanian, Romesh; Thornton, Charles A.; Ibraghimov-Beskrovnaya, Oxana; Zanotti, Stefano 分享 收藏
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Preliminary Assessment of the Phase 1/2 Clinical Trial Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of AOC 1001 Administered Intravenously to Adult Patients with Myotonic Dystrophy Type 1 (DM1) (MARINA) 1/2期临床试验的初步评估，评估静脉注射AOC 1001对1型强直性肌营养不良 (DM1) 成年患者的安全性，耐受性，药代动力学和药效学 (MARINA) Johnson, Nicholas; Day, John; Hamel, Johanna; Thornton, Charles; Subramony, S.; Soltanzadeh, Payam; Statland, Jeffrey; Arnold, William; Wicklund, Matthew; Ditrapani, Kelly; Heusner, Carrie; Chen, Chao-Yin; McEvoy, Bradley; Zhu, Yiming; Tai, Li-Jung; Ackermann, Elizabeth 分享 收藏
Results from a 36-Week Open-Label Study of Recombinant Human Growth Hormone and Testosterone in Facioscapulohumeral Muscular Dystrophy (FSHD) Heatwole, Chad; Luebbe, Elizabeth; Hamel, Johanna; Mongiovi, Philip; Ciafaloni, Emma; Dilek, Nuran; Martens, William; Weber, David; Hani, Rashid; Allen, Jamie; Smith, Claire; Howell, Samantha; Rosero, Spencer; Eichinger, Katy; Baker, Linday; Dekdebrun, Jeanne; Hilbert, Jim; Varma, Anika; McDermott, Michael; Thornton, Charles; Moxley, Richard 分享 收藏
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Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation Deutsch, Gayle K.; Hagerman, Katharine A.; Sampson, Jacinda; Dent, Gersham; Dekdebrun, Jeanne; Parker, Dana M.; Thornton, Charles A.; Heatwole, Chad R.; Subramony, Sub H.; Mankodi, Ami K.; Ashizawa, Tetsuo; Statland, Jeffrey M.; Arnold, W. David; Moxley, Richard T.; Day, John W. 分享 收藏
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Mexiletine in Myotonic Dystrophy Type 1 A Randomized, Double-Blind, Placebo-Controlled Trial Heatwole, Chad; Luebbe, Elizabeth; Rosero, Spencer; Eichinger, Katy; Martens, William; Hilbert, James; Dekdebrun, Jeanne; Dilek, Nuran; Zizzi, Christine; Johnson, Nicholas; Puwanant, Araya; Tawil, Rabi; Schifitto, Giovanni; Beck, Christopher A.; Richeson, J. Franklin; Zareba, Wojciech; Thornton, Charles; McDermott, Michael P.; Moxley, Richard 分享 收藏
A Small Molecule that Binds an RNA Repeat Expansion Stimulates Its Decay via the Exosome Complex Angelbello, Alicia J.; Benhamou, Raphael, I; Rzuczek, Suzanne G.; Choudhary, Shruti; Tang, Zhenzhi; Chen, Jonathan L.; Roy, Madhuparna; Wang, Kye Won; Yildirim, Ilyas; Jun, Albert S.; Thornton, Charles A.; Disney, Matthew D. 分享 收藏
Transcriptome alterations in myotonic dystrophy frontal cortex Otero, Brittney A.; Poukalov, Kiril; Hildebrandt, Ryan P.; Thornton, Charles A.; Jinnai, Kenji; Fujimura, Harutoshi; Kimura, Takashi; Hagerman, Katharine A.; Sampson, Jacinda B.; Day, John W.; Wang, Eric T. 分享 收藏
CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model Ketley, Ami; Wojciechowska, Marzena; Ghidelli-Disse, Sonja; Bamborough, Paul; Ghosh, Tushar K.; Morato, Marta Lopez; Sedehizadeh, Saam; Malik, Naveed Altaf; Tang, Zhenzhi; Powalowska, Paulina; Tanner, Matthew; Billeter-Clark, Rudolf; Trueman, Rebecca C.; Geiszler, Philippine C.; Agostini, Alessandra; Othman, Othman; Bosche, Markus; Bantscheff, Marcus; Rudiger, Martin; Mossakowska, Danuta E.; Drewry, David H.; Zuercher, William J.; Thornton, Charles A.; Drewes, Gerard; Uings, Iain; Hayes, Christopher J.; Brook, J. David 分享 收藏
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Transcriptome alterations in myotonic dystrophy skeletal muscle and heart Wang, Eric T.; Treacy, Daniel; Eichinger, Katy; Struck, Adam; Estabrook, Joseph; Olafson, Hailey; Wang, Thomas T.; Bhatt, Kirti; Westbrook, Tony; Sedehizadeh, Sam; Ward, Amanda; Day, John; Brook, David; Berglund, J. Andrew; Cooper, Thomas; Housman, David; Thornton, Charles; Burge, Christopher 分享 收藏
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Intron retention induced by microsatellite expansions as a disease biomarker Sznajder, Lukasz J.; Thomas, James D.; Carrell, Ellie M.; Reid, Tammy; McFarland, Karen N.; Cleary, John D.; Oliveira, Ruan; Nutter, Curtis A.; Bhatt, Kirti; Sobczak, Krzysztof; Ashizawa, Tetsuo; Thornton, Charles A.; Ranum, Laura P. W.; Swanson, Maurice S. 分享 收藏
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