Elisavet Preza

发表

Review: Induced pluripotent stem cell models of frontotemporal dementia

J. Hardy, T. Warner, T. Warner, 2016, Neuropathology and applied neurobiology.

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.

S. Schneider, M. Stamelou, K. Bhatia, 2012, American journal of human genetics.

Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons

H. Houlden, S. Gandhi, E. Carro, 2017, The Journal of Biological Chemistry.

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

Michelle K. Lupton, D. Geschwind, J. Haines, 2012, Human molecular genetics.

Progressive Motor Neuron Pathology and the Role of Astrocytes in a Human Stem Cell Model of VCP-Related ALS

Christopher R. Sibley, J. Ule, N. Luscombe, 2017, Cell reports.

Modelling frontotemporal dementia using patient-derived induced pluripotent stem cells

E. Preza, S. Wray, Jackie M. Casey, 2020, Molecular and Cellular Neuroscience.

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

Colin J. Mahoney, Michael J. Devine, N. Fox, 2015, Human molecular genetics.

Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

Martin N. Rossor, Margaret Sutherland, Colin J. Mahoney, 2012, PloS one.

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

V. Plagnol, N. Wood, H. Houlden, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo

L. Partridge, A. Chiò, H. Zetterberg, 2017, EMBO molecular medicine.

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

A. Singleton, J. Hardy, K. Bhatia, 2016, Brain : a journal of neurology.

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

J. Ule, P. Svenningsson, J. Hardy, 2021, Nature.

iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease

J. Hardy, K. Bhatia, I. Gout, 2017, PloS one.

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

S. Mead, B. Traynor, R. Orrell, 2015, Neurobiology of Aging.

Correction to: Impaired Bioenergetics in Mutant Mitochondrial DNA Determines Cell Fate during Seizure-Like Activity

M. Walker, H. Houlden, S. Kovac, 2018, Molecular Neurobiology.

Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels

Nick C Fox, Colin J. Mahoney, J. Hardy, 2013, Neuron.

Disruption of ER‐mitochondria tethering and signalling in C9orf72‐associated amyotrophic lateral sclerosis and frontotemporal dementia

C. Shaw, W. Noble, Jacqueline C Mitchell, 2022, Aging cell.