Benjamin O’Callaghan

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

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

Lucía Schottlaender, Rosella Abeti, Zane Jaunmuktane et al. · The American Journal of Human Genetics · 2020 · 85 citations · Full text

Life Sciences, Genetics, Neurology +17

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci

Marc P. M. Soutar, Daniela Melandri, Benjamin O’Callaghan et al. · Brain · 2022 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel<i>ATP1A2</i>mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

Marisol Sampedro Castañeda, Edmar Zanoteli, R. Scalco et al. · Brain · 2018 · 38 citations · Full text

Life Sciences, Neurology, Physiology +17

Pathophysiology of Dyt1- <i>Tor1a</i> dystonia in mice is mediated by spinal neural circuit dysfunction

Amanda Pocratsky, Filipe Nascimento, Mustafa Görkem Özyurt et al. · Science Translational Medicine · 2023 · 29 citations · Full text

Medicine, Neurology, Neuroscience +15