Oscar D. Bello

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas et al. · The American Journal of Human Genetics · 2019 · 127 citations · Full text

Life Sciences, Neurobiology, Neuroscience +12

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

Andreea Manole, Zane Jaunmuktane, Iain P. Hargreaves et al. · Brain · 2017 · 96 citations · Full text

Medicine, Neurology, Neuroscience +17

Calcium sensitive ring-like oligomers formed by synaptotagmin

Jing Wang, Oscar D. Bello, Sarah M. Auclair et al. · Proceedings of the National Academy of Sciences · 2014 · 91 citations · Full text

Life Sciences, Biochemistry, Neuroscience +17

<i>PDXK</i> mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Viorica Chelban, Matthew P. Wilson, Jodi Warman‐Chardon et al. · Annals of Neurology · 2019 · 75 citations · Full text

Life Sciences, Genetics, Neurology +17