Elisavet Preza
Publications by Year
Research Areas
Amyotrophic Lateral Sclerosis Research, Mitochondrial Function and Pathology, Alzheimer's disease research and treatments, Neurogenetic and Muscular Disorders Research, Parkinson's Disease Mechanisms and Treatments
Most-Cited Works
- → Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis(2012)261 cited
- → Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases(2012)234 cited
- → Genetic and phenotypic characterization of complex hereditary spastic paraplegia(2016)221 cited
- → G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD / ALS pathology in vitro and in vivo(2017)215 cited
- → Progressive Motor Neuron Pathology and the Role of Astrocytes in a Human Stem Cell Model of VCP-Related ALS(2017)182 cited
- → 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(2015)154 cited
- → Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels(2013)152 cited
- → Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research(2012)141 cited
- → MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration(2021)71 cited
- → Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion(2014)62 cited