Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy
2024 · JAMA Pediatrics · 50 citations
https://doi.org/10.1001/jamapediatrics.2024.0492
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Johannes Friese
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Johannes Friese is an academic researcher from University Hospital Bonn. The author has contributed to research in topics: Neurogenetic and Muscular Disorders Research & RNA modifications and cancer & Congenital Anomalies and Fetal Surgery. The author has an h-index of 8, co-authored 17 publications.
Papers by this author
worksImproved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
2022 · Orphanet Journal of Rare Diseases · 39 citations
https://doi.org/10.1186/s13023-022-02547-8
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany
2022 · Journal of Neuromuscular Diseases · 37 citations
https://doi.org/10.3233/jnd-221577
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study
2024 · The Lancet Regional Health - Europe · 21 citations
https://doi.org/10.1016/j.lanepe.2024.101092
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2
2024 · Journal of Neurology · 15 citations
https://doi.org/10.1007/s00415-024-12188-5
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