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The New England Journal of Medicine|February 15, 2018
Nusinersen versus Sham Control in Later-Onset Spinal Muscular AtrophyEugenio Mercuri, Basil T Darras, Claudia A Chiriboga, et al.Science Advances|July 25, 2025
DNA damage response pathway regulates Nrf2 in response to oxidative stressXiao-You Jiang, Qi-Qiang Guo, Shan-Shan Wang, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 10, 2022
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth diseaseEppie M Yiu, Paula Bray, Jonathan Baets, et al.Cancer Discovery|March 14, 2025
Aged and BRCA-Mutated Stromal Cells Drive Epithelial Cell TransformationGeyon L Garcia, Taylor Orellana, Grace Gorecki, et al.Research Square|January 23, 2024
Serum proteomics reveals APOE dependent and independent protein signatures in Alzheimer's diseaseValborg Gudmundsdottir, Elisabet Frick, Valur Emilsson, et al.Muscle & Nerve|April 29, 2016
Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophyAmy Pasternak, Georgios Sideridis, Maria Fragala-Pinkham, et al.Annals of Clinical and Translational Neurology|August 20, 2025
Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History ComparisonsCraig M McDonald, Michela Guglieri, Dragana Vučinić, et al.Human Mutation|October 6, 2011
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD geneKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.Genes and Immunity|August 21, 2015
The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to femalesR C Chiaroni-Clarke, Y R Li, J E Munro, et al.Steroids|November 20, 2025
Exposure-response of serum biomarkers to vamorolone, a dissociative corticosteroidal anti-inflammatory drug, in 4- to <7-year childrenSwati Mummidivarpu, Utkarsh J Dang, Michael Ziemba, et al.Pageof 202