Elena Schlapakow

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann et al. · Nature Genetics · 2024 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Sonographic assessment of the optic nerve and the central retinal artery in idiopathic intracranial hypertension

Monika Jeub, Elena Schlapakow, Martina Ratz et al. · Journal of Clinical Neuroscience · 2019 · 35 citations

Medicine, Neurology, Ophthalmology +15

Remote digital assessment of amyotrophic lateral sclerosis functional rating scale – a multicenter observational study

Thomas Meyer, Susanne Spittel, Torsten Grehl et al. · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 2022 · 35 citations · Full text

Medicine, Health Informatics, Neurology +14

Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder

Tanja Schmitz‐Hübsch, Silke Lux, Peter Bauer et al. · Annals of Clinical and Translational Neurology · 2021 · 19 citations · Full text

Life Sciences, Genetics, Neurology +17

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann et al. · medRxiv · 2023 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16