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Natural history of limb girdle muscular dystrophy R1 (LGMDR1): a GRASP consortium study 肢带型肌营养不良R1（LGMDR1）的自然史：一项GRASP联盟研究 Hunn, Stephanie M.; Findlay, Andrew R.; Alfano, Lindsay N.; Jones, Aileen; Butler, Amanda; Lowes, Linda P.; Iammarino, Megan A.; Reash, Natalie F.; Pietruszewski, Lindsay; Sasidharan, Sandhya; Currence, Melissa; Statland, Jeffrey M.; Strahler, Talia; Will, Robert; Wicklund, Matthew; Dixon, Stacy; Augsburger, Renee; Mozaffar, Tahseen; Laubscher, Katie M.; Mockler, Shelley R. H.; Mathews, Katherine D.; Stinson, Nikia; Leung, Doris G.; Stark, Molly M.; Horton, Rebecca A.; Kang, Peter B.; James, Meredith K.; Clause, Amanda; Weihl, Conrad C.; Johnson, Nicholas E. 分享 收藏
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An integrative description of a new species of marine water bear (Heterotardigrada: Echiniscoididae) from the tidal zone of the east coast of Korea 对韩国东海岸潮间带一种新海洋缓步动物（异缓步纲：海熊虫科）的综合性描述 Kihm, J. -H; Gasiorek, P.; Rho, H. S.; Lee, H.; Han, S.; Kim, J.; Kang, P.; Choi, J.; Jung, W.; Park, T. -Y. S. 分享 收藏
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Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study Hunn, Stephanie M.; Alfano, Lindsay N.; Jones, Aileen; Butler, Amanda; Lowes, Linda P.; Iammarino, Megan A.; Reash, Natalie F.; Pietruszewski, Lindsay; Sasidharan, Sandhya; Currence, Melissa; Statland, Jeffrey M.; Strahler, Talia; Will, Robert; Wicklund, Matthew; Dixon, Stacy; Augsburger, Renee; Mozaffar, Tahseen; Laubscher, Katie M.; Mockler, Shelley R. H.; Mathews, Katherine D.; Stinson, Nikia; Leung, Doris G.; Stark, Molly M.; Horton, Rebecca A.; Kang, Peter B.; James, Meredith K.; Clause, Amanda; Weihl, Conrad C.; Johnson, Nicholas E. 分享 收藏
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Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development Gunasekaran, Mekala; Littel, Hannah R.; Wells, Natalya M.; Turner, Johnnie; Campos, Gloriana; Venigalla, Sree; Estrella, Elicia A.; Ghosh, Partha S.; Daugherty, Audrey L.; Stafki, Seth A.; Kunkel, Louis M.; Foley, A. Reghan; Donkervoort, Sandra; Bonnemann, Carsten G.; de Laguna, Laura Toledo-Bravo; Nascimento, Andres; Natera-de Benito, Daniel; Draper, Isabelle; Bruels, Christine C.; Pacak, Christina A.; Kang, Peter B. 分享 收藏
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Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study Alfano, Lindsay N.; James, Meredith K.; Petersen, Kristine v; Rudolf, Karen; Vissing, John; Augsburger, Renee; Mozaffar, Tahseen; Jones, Aileen; Butler, Amanda; Laubscher, Katie M.; Mockler, Shelley R. H.; Mathews, Katherine D.; Iammarino, Megan A.; Reash, Natalie F.; Pietruszewski, Lindsay; Lowes, Linda P.; Strahler, Talia; Wicklund, Matthew; Hunn, Stephanie; Weihl, Conrad C.; Sasidharan, Sandhya; Currence, Melissa; Statland, Jeffrey M.; Stinson, Nikia; Holzer, Megan; Leung, Doris G.; Lott, Donovan J.; Kang, Peter B.; Holsten, Scott; Desai, Urvi; Johnson, Nicholas E.; GRASP LGMD Consortium 分享 收藏
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets 在基因组、外显子组和基因 panel 测序数据集中诊断脊髓性肌萎缩症漏诊病例 Weisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S.; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A.; Daugherty, Audrey L.; Folland, Chiara; Peric, Stojan; Fahmy, Nagia; Udd, Bjarne; Horakova, Magda; Lusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmuller, Hanns; Horvath, Rita; Bonnemann, Carsten G.; Donkervoort, Sandra; Haliloglu, Goknur; Herguner, Ozlem; Kang, Peter B.; Scott, Hamish S.; Topf, Ana; Straub, Volker; Pajusalu, Sander; Ounap, Katrin; Tiao, Grace; Rehm, Heidi L.; O'Donnell-Luria, Anne 分享 收藏
The splicing factor hnRNPL demonstrates conserved myocardial regulation across species and is altered in heart failure Draper, Isabelle; Huang, Wanting; Pande, Suchita; Zou, Aaron; Calamaras, Timothy D.; Choe, Richard H.; Correia-Branco, Ana; Mei, Ariel L.; Chen, Howard H.; Littel, Hannah R.; Gunasekaran, Mekala; Wells, Natalya M.; Bruels, Christine C.; Daugherty, Audrey L.; Wolf, Matthew J.; Kang, Peter B.; Yang, Vicky K.; Slonim, Donna K.; Wallingford, Mary C.; Blanton, Robert M. 分享 收藏
AAV-DJ is superior to AAV9 for targeting brain and spinal cord, and de-targeting liver across multiple delivery routes in mice Aav-dj在靶向大脑和脊髓方面优于AAV9，并且在小鼠中通过多种递送途径去靶向肝脏 Chauhan, Monika; Daugherty, Audrey L.; Khadir, Fatemeh (Ellie); Duzenli, Ozgun F.; Hoffman, Alexandra; Tinklenberg, Jennifer A.; Kang, Peter B.; Aslanidi, George; Pacak, Christina A. 分享 收藏
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R.; Beckmann, Jacques S.; Bronicki, Lucas; Cooper, Sandra T.; Ganesh, Vijay S.; Kang, Peter B.; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J.; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C. 分享 收藏
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome Rajamani, Geetanjali; Stafki, Seth A.; Daugherty, Audrey L.; Mantyh, William G.; Littel, Hannah R.; Bruels, Christine C.; Pacak, Christina A.; Robbins, Paul D.; Niedernhofer, Laura J.; Abiona, Adesoji; Giunti, Paola; Mohammed, Shehla; Laugel, Vincent; Kang, Peter B. 分享 收藏
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Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network Kang, Peter B.; Jorand-Fletcher, Magali; Zhang, Wanfang; McDermott, Suzanne W.; Berry, Reba; Chambers, Chelsea; Wong, Kristen N.; Mohamed, Yara; Thomas, Shiny; Venkatesh, Y. Swamy; Westfield, Christina; Whitehead, Nedra; Johnson, Nicholas E. 分享 收藏
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