Anja Seelhöfer

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

Julien H. Park, Christiane Elpers, Janine Reunert et al. · Brain · 2019 · 88 citations · Full text

Life Sciences, Genetics, Neurology +17

News on Clinical Details and Treatment in PGM1-CDG

Esther Schrapers, Laura C. Tegtmeyer, Gunter Ŝimić-Schleicher et al. · JIMD Reports · 2015 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<scp>3‐Hydroxyisobutyrate</scp> dehydrogenase (<i>HIBADH</i>) deficiency—A novel disorder of valine metabolism

Mélanie Meyer, Jana C. Hollenbeck, Janine Reunert et al. · Journal of Inherited Metabolic Disease · 2021 · 13 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +17

Transient <i>N</i>‐glycosylation abnormalities likely due to a de novo loss‐of‐function mutation in the delta subunit of coat protein I

Janine Reunert, Stephan Rust, Marianne Grüneberg et al. · American Journal of Medical Genetics Part A · 2019 · 12 citations

Life Sciences, Biochemistry, Molecular Biology +17

Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report

Aziza Miriam Belkheir, Janine Reunert, Christiane Elpers et al. · Frontiers in Neurology · 2021 · 10 citations · Full text

Life Sciences, Cell Biology, Molecular Genetics +17