Toni S. Pearson

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Joerg Klepper, Cigdem I. Akman, Marisa Armeno et al. · Epilepsia Open · 2020 · 252 citations · Full text

Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons

Toni S. Pearson, Nalin Gupta, Waldy San Sebastián et al. · Nature Communications · 2021 · 162 citations · Full text

Long-Term Clinical Course of Glut1 Deficiency Syndrome

Aliza S. Alter, Kristin Engelstad, Veronica J. Hinton et al. · Journal of Child Neurology · 2014 · 95 citations

Nutrition, Longitudinal Outcomes, Pathology +16

<scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

Toni S. Pearson, Laura Gilbert, Thomas Opladen et al. · Journal of Inherited Metabolic Disease · 2020 · 82 citations · Full text

Neuropsychology, Motor Impairment, Motor Development +25

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne et al. · Brain · 2019 · 74 citations · Full text