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Annals of Clinical and Translational Neurology|May 14, 2022
An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophyJennifer M Kwon, Kapil Arya, Nancy Kuntz, et al.
World Journal of Pediatrics : WJP|March 25, 2019
Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophyQing Ke, Zheng-Yan Zhao, Jerry R Mendell, et al.
Journal of Inherited Metabolic Disease|December 15, 2011
Females experience a more severe disease course in Batten diseaseJennifer Cialone, Heather Adams, Erika F Augustine, et al.
Molecular Therapy. Nucleic Acids|March 10, 2025
Potential ASO-based personalized treatment for Charcot-Marie-Tooth disease type 2SSandra Smieszek, Bartlomiej Przychodzen, Christina Tyner, et al.
Pediatric Dermatology|June 14, 2023
Methotrexate for inflammatory skin disease in pediatric patients: Consensus treatment guidelinesElaine C Siegfried, Lisa M Arkin, Yvonne E Chiu, et al.
Nature Medicine|December 8, 2025
Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trialJennifer M Kwon, Francina Munell, Laure Le Goff, et al.
Arthritis Care & Research|September 11, 2023
Disease Course, Treatments, and Outcomes of Children With Systemic Juvenile Idiopathic Arthritis-Associated Lung DiseaseYannan Huang, Laura Sompii-Montgomery, Jessica Patti, et al.
American Journal of Human Genetics|December 31, 2005
Functional variant in a bitter-taste receptor (hTAS2R16) influences risk of alcohol dependenceAnthony L Hinrichs, Jen C Wang, Bernd Bufe, et al.
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