Emma Reid

Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay

Wendy Heywood, Daniela Galimberti, Emily Bliss et al. · Molecular Neurodegeneration · 2015 · 161 citations · Full text

Medicine, Neurology, Neuroscience +17

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

Niklas Darín, Emma Reid, Laurence Prunetti et al. · The American Journal of Human Genetics · 2016 · 139 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I

Elisa Oppici, Sonia Fargue, Emma Reid et al. · Human Molecular Genetics · 2015 · 60 citations

Life Sciences, Biochemistry, Pharmacology +15

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

Emma Reid, Apostolos Papandreou, Suzanne Drury et al. · Brain · 2016 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6

Emma Reid, Hywel Williams, Polona Le Quesne Stabej et al. · JIMD Reports · 2015 · 28 citations · Full text

Medicine, Neurology, Pharmacology +17