Miriam Nickel

Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study

Miriam Nickel, Alessandro Simonati, David Jacoby et al. · The Lancet Child & Adolescent Health · 2018 · 129 citations · Full text

Disease Characteristics, Pediatrics, Pathology +4

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>

Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami et al. · The Journal of Clinical Endocrinology & Metabolism · 2020 · 42 citations · Full text

An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease

Kathleen W. Wyrwich, Angela Schulz, Miriam Nickel et al. · Journal of Inborn Errors of Metabolism and Screening · 2018 · 40 citations · Full text

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

Management of CLN1 Disease: International Clinical Consensus

Erika F. Augustine, Heather Adams, Emily de los Reyes et al. · Pediatric Neurology · 2021 · 32 citations · Full text