Timothy J. Maarup

Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann–Pick C1

Timothy J. Maarup, Agnes H. Chen, Forbes D. Porter et al. · Molecular Genetics and Metabolism · 2015 · 86 citations · Full text

Medicine, Pharmacology, Clinical Pharmacology +4

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe et al. · Genetics in Medicine · 2019 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Encephalopathies with <i>KCNC1</i> variants: genotype‐phenotype‐functional correlations

Jillian M. Cameron, Snezana Maljevic, Umesh Nair et al. · Annals of Clinical and Translational Neurology · 2019 · 63 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Dong Li, Qin Wang, Allan Bayat et al. · Journal of Clinical Investigation · 2023 · 44 citations · Full text

Life Sciences, Genetics, Neuroscience +17