Agnes H. Chen

IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann et al. · The American Journal of Human Genetics · 2018 · 115 citations · Full text

Life Sciences, Genetics, Neuroscience +10

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

Replacing the Enzyme α- <scp>l</scp> -Iduronidase at Birth Ameliorates Symptoms in the Brain and Periphery of Dogs with Mucopolysaccharidosis Type I

Ashley D. Dierenfeld, Michael F. McEntee, Carole Vogler et al. · Science Translational Medicine · 2010 · 82 citations · Full text

Life Sciences, Neurobiology, Neuroscience +9

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Frédéric Tran Mau‐Them, Laurent Guibaud, Laurence Duplomb et al. · Genetics in Medicine · 2018 · 60 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I

Patricia Dickson, Stephen R. Hanson, Michael F. McEntee et al. · Molecular Genetics and Metabolism · 2010 · 53 citations · Full text

Medicine, Neurological Surgery, Neurosurgery +8