Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

International IBD Genetics Consortium (IIBDGC)… - Nature …, 2013 - nature.com
Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple
sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 …

The role of working memory and attentional disengagement on inhibitory control: effects of aging and Alzheimer's disease

TJ Crawford, S Higham, J Mayes, M Dale, S Shaunak… - Age, 2013 - Springer
Patients with Alzheimer's disease have an impairment of inhibitory control for reasons that
are currently unclear. Using an eye-tracking task (the gap-overlap paradigm), we examined …

Treatment of refractory neurosarcoidosis with infliximab

E Santos, S Shaunak, S Renowden… - Journal of Neurology …, 2010 - jnnp.bmj.com
Background Neurological involvement in sarcoidosis is serious and often aggressive. Many
patients respond to steroids but some show a progressive course despite treatment with …

[HTML][HTML] Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency

YS Ng, K Thompson, D Loher, S Hopton… - Frontiers in …, 2020 - frontiersin.org
Mitochondrial complex I deficiency is associated with a diverse range of clinical phenotypes
and can arise due to either mitochondrial DNA (mtDNA) or nuclear gene defects. We …

Remembered saccades with variable delay in Parkinson's disease

S Shaunak, E O'Sullivan, S Blunt… - … : official journal of the …, 1999 - Wiley Online Library
The effect of increasing delay on the metrics of remembered saccades was studied in 10
subjects with mild Parkinson's disease, none of whom was receiving treatment with l‐dopa …

Abnormalities of predictive saccades in Parkinson's disease

EP O'Sullivan, S Shaunak, L Henderson, M Hawken… - …, 1997 - journals.lww.com
SACCADES of patients with mild Parkinson's disease (PD) are said to be abnormal in the
absence of a concurrently visible target or when they are part of a rapid sequence of eye …

Refractory neurosarcoidosis responsive to infliximab

C Kobylecki, S Shaunak - Practical neurology, 2007 - pn.bmj.com
A35-year-old, right-handed man of Asian origin presented to the local ophthalmology
service in June 2001 with headaches and decreasing visual acuity in the left eye, which …

Sporadic Creutzfeldt-Jakob disease presenting as progressive nonfluent aphasia with speech apraxia

C Kobylecki, JC Thompson, M Jones… - Alzheimer Disease & …, 2013 - journals.lww.com
Progressive non-fluent aphasia (PNFA) is typically associated with pathological changes
consistent with frontotemporal lobar degeneration. A 65-year-old male presented with …

Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency

S Shaunak, ME Roberts - Mitochondrial Genetics and …, 2020 - books.google.com
Mitochondrial complex I deficiency is associated with a diverse range of clinical phenotypes
and can arise due to either mitochondrial DNA (mtDNA) or nuclear gene defects. We …

A treatable cause for a painful movement disorder

D Paling, M Irfan, S Jones, S Shaunak - Practical neurology, 2010 - pn.bmj.com
A 44-year-old, right-handed woman presented with a 2 year history of intermittent burning
and numbness over the left side of her face which had become continuous for the past 9 …