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Astrid Pechmann

University of Freiburg

42

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392

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Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.

2021 The Lancet Child & Adolescent Health
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Costs of Illness of Spinal Muscular Atrophy: A Systematic Review.

2021 Applied Health Economics and Health Policy
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Post‐dural puncture headache ‐ a single center analysis in pediatric patients with and without SMA

2021 Acta Paediatrica
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Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study.

2020 Lancet Neurology
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[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)].

2020 Nervenarzt
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Author response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA

2020 Neurology
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Impaired secretion of platelet granules in patients with Duchenne musclular dystrophy – results of a prospective diagnostic study

2020 Neuromuscular Disorders
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Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study

2020 Orphanet Journal of Rare Diseases
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Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101: Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V.

2020 Nervenarzt
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Treatment with Nusinersen – Challenges Regarding the Indication for Children with SMA Type 1

2019 Journal of neuromuscular diseases
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