Roisin Sullivan
University College London Division of Surgery and Interventional Science
20 papers found
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Genome‐Wide Association Study Identifies Risk Loci for Cluster Headache
UploadLow Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients With Movement Disorders
Download from onlinelibrary.wiley.comA novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
Download from academic.oup.comReply to: “Dopa‐Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions”
Download from onlinelibrary.wiley.comNeuronal intranuclear inclusion disease is genetically heterogeneous
Download from api.wiley.comA Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele
UploadGGC Repeat Expansion in NOTCH2NLC is rare in European Leukoencephalopathy
Download from api.wiley.comRFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy
Download from onlinelibrary.wiley.comCerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
UploadPDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation
UploadBiallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Download from www.nature.comSpinocerebellar ataxia: an update
UploadDNA repair in trinucleotide repeat ataxias
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