Roisin Sullivan
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 24 publications
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.
Journal: Brain communications
Published: September 11, 2024
Profiling complex repeat expansions in RFC1 in Parkinson's disease.
Journal: NPJ Parkinson's disease
Published: October 16, 2023
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
Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction.
Journal: Science translational medicine
Published: May 03, 2023
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome: genetic and clinical insights.
Journal: Current opinion in neurology
Published: July 06, 2021
Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?
Journal: Annals of clinical and translational neurology
Published: February 11, 2021
NOTCH2NLC Intermediate-Length Repeat Expansion and Parkinson's Disease in Patients of European Descent.
Journal: Annals of neurology
Published: November 25, 2020
Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.
Journal: Annals of neurology
Published: September 25, 2020
RFC1-related ataxia is a mimic of early multiple system atrophy.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: September 10, 2020
Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: August 17, 2020
Neuronal intranuclear inclusion disease is genetically heterogeneous.
Journal: Annals of clinical and translational neurology
Published: June 25, 2020
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: June 13, 2020
Last Updated: 09/26/2026