Janine Reunert

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Julien H. Park, Max Hogrebe, Marianne Grüneberg et al. · The American Journal of Human Genetics · 2015 · 303 citations · Full text

Slc39a8 Deficiency, Biochemistry, Natural Sciences +3

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 279 citations · Full text

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jos C. Jansen, Sebahattin Çirak, Monique van Scherpenzeel et al. · The American Journal of Human Genetics · 2016 · 97 citations · Full text

Abnormal Protein Glycosylation, Biochemistry, Disease Mechanism +11

Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study

Richard W.D. Welford, Marco Garzotti, Charles Marques Lourenço et al. · PLoS ONE · 2014 · 93 citations · Full text

Creutzfeldt-jakob Disease, Neurological Disorder, Clinical Neurology +23

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

Julien H. Park, Christiane Elpers, Janine Reunert et al. · Brain · 2019 · 87 citations · Full text