Roberto Simone
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 14 publications
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 05, 2022
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Journal: Neurology
Published: June 03, 2022
Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates.
Journal: Acta neuropathologica
Published: October 23, 2019
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Journal: Nature genetics
Published: September 07, 2018
G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo.
Journal: EMBO molecular medicine
Published: November 09, 2017
Foamy Virus Vectors Transduce Visceral Organs and Hippocampal Structures following In Vivo Delivery to Neonatal Mice.
Journal: Molecular therapy. Nucleic acids
Published: August 01, 2017
In vitro prion-like behaviour of TDP-43 in ALS.
Journal: Neurobiology of disease
Published: April 26, 2016
MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration.
Journal: Nature
Published: April 15, 2016
Corrigendum to "Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy." [Neurobiol. Aging 35 (2014) 1514.e1-1514.e12].
Journal: Neurobiology of aging
Published: November 01, 2015
G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome.
Journal: FEBS letters
Published: April 02, 2015
Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.
Journal: Neurobiology of aging
Published: November 13, 2013
Last Updated: 09/26/2026