Ilaria Quartesan
London, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026
Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.
Journal: medRxiv : the preprint server for health sciences
Published: November 24, 2025
CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: April 24, 2025
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Journal: Brain : a journal of neurology
Published: October 06, 2023
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions.
Journal: Biomolecules
Published: August 14, 2023
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: August 11, 2023
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Journal: Brain : a journal of neurology
Published: March 27, 2023
Electrophysiological evidence of subclinical trigeminal dysfunction in patients with COVID-19 and smell impairment: A pilot study.
Journal: Frontiers in neurology
Published: June 29, 2022
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Journal: Neurology
Published: June 03, 2022
Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study.
Journal: Journal of neurology
Published: May 21, 2022
Showing 1-10 of 10
Last Updated: 09/26/2026