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JAMA Pediatrics|April 8, 2024
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled TrialOliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, et al.Orphanet Journal of Rare Diseases|October 24, 2022
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry studyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.Neurology|July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.Journal of Neurology|February 27, 2024
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2Katharina Vill, Moritz Tacke, Anna König, et al.The New England Journal of Medicine|June 21, 2023
Systemic Inflammation and Normocytic Anemia in DOCK11 DeficiencyJana Block, Christina Rashkova, Irinka Castanon, et al.Pageof 4