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Proceedings of the National Academy of Sciences of the United States of America|October 10, 2024
Biochemical and structural insights into a 5' to 3' RNA ligase reveal a potential role in tRNA ligationYingjie Hu, Victor A Lopez, Hengyi Xu, et al.
Annals of Clinical and Translational Neurology|March 28, 2015
AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal ModelsPatricia C Sondergaard, Danielle A Griffin, Eric R Pozsgai, et al.
Journal of Neuromuscular Diseases|August 23, 2021
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen TreatmentOlga Mitelman, Hoda Z Abdel-Hamid, Barry J Byrne, et al.
Muscle & Nerve|September 18, 2009
An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophyBakri Elsheikh, Thomas Prior, Xiaoli Zhang, et al.
Pediatric Pulmonology|December 15, 2018
Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapySamiah Al-Zaidy, A Simon Pickard, Kavitha Kotha, et al.
RNA Biology|September 30, 2011
Role of pri-miRNA tertiary structure in miR-17~92 miRNA biogenesisSteven G Chaulk, Gina L Thede, Oliver A Kent, et al.
Molecular Genetics & Genomic Medicine|March 25, 2015
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican HispanicsSamiah A Al-Zaidy, Vinod Malik, Kelley Kneile, et al.
JAMA Neurology|May 12, 2025
Quantitative Muscle Magnetic Resonance Outcomes in Patients With Duchenne Muscular Dystrophy: An Exploratory Analysis From the EMBARK Randomized Clinical TrialKrista Vandenborne, Glenn A Walter, Volker Straub, et al.
Neuromuscular Disorders : NMD|October 2, 2009
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophyKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.
Neuromuscular Disorders : NMD|December 17, 2013
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophiesLinda L Bachinski, Keith A Baggerly, Valerie L Neubauer, et al.
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