Elisavet Preza

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

Gavin Charlesworth, Vincent Plagnol, Kira M. Holmström et al. · The American Journal of Human Genetics · 2012 · 254 citations · Full text

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

Giovanni Coppola, Subashchandrabose Chinnathambi, Jason Ji Yong Lee et al. · Human Molecular Genetics · 2012 · 233 citations · Full text

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Eleanna Kara, Arianna Tucci, Claudia Manzoni et al. · Brain · 2016 · 219 citations · Full text

Genetics, Genetic Epidemiology, Pathology +16

Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT

Teresa Sposito, Elisavet Preza, Colin Mahoney et al. · Human Molecular Genetics · 2015 · 154 citations · Full text

Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels

Fernando Benito Bartolomé, Hsiu-Chuan Wu, Victoria Burchell et al. · Neuron · 2013 · 150 citations · Full text