Browse by UCL people
Group by: Type | Date
Number of items: 19.
Article
Beecroft, SJ;
Cortese, A;
Sullivan, R;
Yau, WY;
Dyer, Z;
Wu, TY;
Mulroy, E;
... Roxburgh, RH; + view all
(2020)
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
Brain
, 143
(9)
pp. 2673-2680.
10.1093/brain/awaa203.
|
|
Chelban, V;
Wilson, MP;
Warman Chardon, J;
Vandrovcova, J;
Zanetti, MN;
Zamba-Papanicolaou, E;
Efthymiou, S;
... SYNaPS Study Group, .; + view all
(2019)
PDXK mutations cause polyneuropathy responsive to PLP supplementation.
Annals of Neurology
10.1002/ana.25524.
(In press).
|
 |
|
Chen, Z;
Yan Yau, W;
Jaunmuktane, Z;
Tucci, A;
Sivakumar, P;
Gagliano Taliun, SA;
Turner, C;
... Houlden, H; + view all
(2020)
Neuronal intranuclear inclusion disease is genetically heterogeneous.
Annals of Clinical and Translational Neurology
, 7
(9)
pp. 1716-1725.
10.1002/acn3.51151.
|
|
Cortese, A;
Simone, R;
Sullivan, R;
Vandrovcova, J;
Tariq, H;
Yan, YW;
Humphrey, J;
... Houlden, H; + view all
(2019)
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Nature Genetics
, 51
(4)
pp. 649-658.
10.1038/s41588-019-0372-4.
|
|
Cortese, A;
Tozza, S;
Yau, WY;
Rossi, S;
Beecroft, SJ;
Jaunmuktane, Z;
Dyer, Z;
... Reilly, MM; + view all
(2020)
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain
, 143
(2)
pp. 480-490.
10.1093/brain/awz418.
|
|
|
Manole, A;
Efthymiou, S;
O'Connor, E;
Mendes, MI;
Jennings, M;
Maroofian, R;
Davagnanam, I;
... Houlden, H; + view all
(2020)
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
American Journal of Human Genetics
, 107
(2)
pp. 311-324.
10.1016/j.ajhg.2020.06.016.
|
|
O'Connor, E;
Fourier, C;
Ran, C;
Sivakumar, P;
Liesecke, F;
Southgate, L;
Harder, AVE;
... Belin, AC; + view all
(2021)
Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.
Annals of Neurology
, 90
(2)
pp. 193-202.
10.1002/ana.26150.
|
|
Scriba, CK;
Beecroft, SJ;
Clayton, JS;
Cortese, A;
Sullivan, R;
Yau, WY;
Dominik, N;
... Ravenscroft, G; + view all
(2020)
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
Brain
, 143
(10)
pp. 2904-2910.
10.1093/brain/awaa263.
|
|
Sullivan, R;
Heavey, S;
Graham, DG;
Wellman, R;
Khan, S;
Thrumurthy, S;
Simpson, BS;
... Lovat, LB; + view all
(2020)
An optimised saliva collection method to produce high-yield, high-quality RNA for translational research.
PLOS ONE
, 15
(3)
, Article e0229791. 10.1371/journal.pone.0229791.
|
|
|
Sullivan, R;
Yau, WY;
Chelban, V;
Rossi, S;
Dominik, N;
O'Connor, E;
Hardy, J;
... Houlden, H; + view all
(2021)
RFC1-related ataxia is a mimic of early multiple system atrophy.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2020-325092.
(In press).
|
|
|
Sullivan, R;
Yau, WY;
Chelban, V;
Rossi, S;
O'Connor, E;
Wood, NW;
Cortese, A;
(2020)
RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy.
Movement Disorders
10.1002/mds.28074.
(In press).
|
|
Sullivan, R;
Yau, WY;
O'Connor, E;
Houlden, H;
(2018)
Spinocerebellar ataxia: an update.
Journal of Neurology
10.1007/s00415-018-9076-4.
(In press).
|
|
|
Yau, WY;
Sullivan, R;
Rocca, C;
Cali, E;
Vandrovcova, J;
Wood, NW;
Houlden, H;
(2021)
NOTCH2NLC Intermediate-length Repeat Expansion and Parkinson's Disease in Patients of European Descent.
[Letter].
Annals of Neurology
, 89
(3)
pp. 633-635.
10.1002/ana.26003.
|
|
Yau, WY;
Chen, Z;
Sullivan, R;
Vandrovcova, J;
Houlden, H;
(2021)
Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?
Annals of Clinical and Translational Neurology
, 8
(4)
pp. 1002-1004.
10.1002/acn3.51330.
|
|
|
Yau, WY;
O'Connor, E;
Sullivan, R;
Akijian, L;
Wood, NW;
(2018)
DNA repair in trinucleotide repeat ataxias.
The FEBS Journal
, 285
(19)
pp. 3669-3682.
10.1111/febs.14644.
|
|
Yau, WY;
Sullivan, R;
Chen, Z;
Lynch, DS;
Vandrovcova, J;
Wood, NW;
Houlden, H;
(2020)
GGC Repeat Expansion in NOTCH2NLC is rare in European Leukoencephalopathy.
Annals of Neurology
, 88
(3)
pp. 641-642.
10.1002/ana.25818.
|
|
Yau, WY;
Vandrovcova, J;
Sullivan, R;
Chen, Z;
Zecchinelli, A;
Cilia, R;
Stefano, D;
... Houlden, H; + view all
(2020)
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients With Movement Disorders.
Movement Disorders
10.1002/mds.28302.
(In press).
|
|
|
Zheng, SC;
Webster, AP;
Dong, D;
Feber, A;
Graham, DG;
Sullivan, R;
Jevons, S;
... Teschendorff, AE; + view all
(2018)
A novel cell-type deconvolution algorithm reveals substantial contamination by immune cells in saliva, buccal and cervix.
Epigenomics
, 10
(7)
pp. 925-940.
10.2217/epi-2018-0037.
|
Thesis
|
Sullivan, Roisin Hannah;
(2022)
Genetic Identification and Characterisation of Novel Genes Implicated in Cerebellar Ataxia.
Doctoral thesis (Ph.D), UCL (University College London).
|
