Eva Wibbeler

Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

Angela Abicht, Marina Dusl, Constanze Gallenmüller et al. · Human Mutation · 2012 · 116 citations

Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study

Angela Schulz, Nicola Specchio, Emily de los Reyes et al. · The Lancet Neurology · 2023 · 40 citations

Open-label Extension Study, Medicine, Cerliponase Alfa +4

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study

Adela Della Marina, Eva Wibbeler, Angela Abicht et al. · Frontiers in Human Neuroscience · 2020 · 26 citations · Full text

Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients

Christoph Schwering, Gertrud Kammler, Eva Wibbeler et al. · Journal of Child Neurology · 2021 · 19 citations · Full text

Neurological Disorder, Immunodeficiencies, Cln2 Disease ” +16

Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

Simon Dulz, Christoph Schwering, Jan Wildner et al. · British Journal of Ophthalmology · 2022 · 19 citations