Andreea Manole

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

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Eleanna Kara, Arianna Tucci, Claudia Manzoni et al. · Brain · 2016 · 222 citations · Full text

Life Sciences, Genetics, Neurology +15

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

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Shereen G. Ghosh, Kerstin Becker, He Huang et al. · The American Journal of Human Genetics · 2018 · 89 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +14