Browse by UCL Departments and Centres
Group by: Author | Type
Number of items: 38.
A
Amaral, PP;
Leonardi, T;
Han, N;
Viré, E;
Gascoigne, DK;
Arias-Carrasco, R;
Büscher, M;
... Kouzarides, T; + view all
(2018)
Genomic positional conservation identifies topological anchor point RNAs linked to developmental loci.
Genome Biology
, 19
(1)
, Article 32. 10.1186/s13059-018-1405-5.
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Anttila, V;
Bulik-Sullivan, B;
Finucane, HK;
Walters, RK;
Bras, J;
Duncan, L;
Escott-Price, V;
... Neale, BM; + view all
(2018)
Analysis of shared heritability in common disorders of the brain.
Science
, 360
(6395)
, Article eaap8757. 10.1126/science.aap8757.
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B
Best, S;
Shoemark, A;
Rubbo, B;
Patel, MP;
Fassad, MR;
Dixon, M;
Rogers, AV;
... Hogg, C; + view all
(2018)
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.
Thorax
, 74
(2)
10.1136/thoraxjnl-2018-212104.
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Bonham, LW;
Karch, CM;
Fan, CC;
Tan, C;
Geier, EG;
Wang, Y;
Wen, N;
... International Genomics of Alzheimer’s Project (IGAP); + view all
(2018)
CXCR4 involvement in neurodegenerative diseases.
Translational Psychiatry
, 8
(1)
, Article 73. 10.1038/s41398-017-0049-7.
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Broce, I;
Karch, CM;
Wen, N;
Fan, CC;
Wang, Y;
Tan, CH;
Kouri, N;
... Sugrue, LP; + view all
(2018)
Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.
PLoS Medicine
, 15
(1)
, Article e1002487. 10.1371/journal.pmed.1002487.
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C
Caine, D;
Nihat, A;
Crabb, P;
Rudge, P;
Cipolotti, L;
Collinge, J;
Mead, S;
(2018)
The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature.
PLoS One
, 13
(1)
, Article e0190818. 10.1371/journal.pone.0190818.
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Canas, LS;
Yvernault, B;
Cash, DM;
Molteni, E;
Veale, T;
Benzinger, T;
Ourselin, S;
... Modat, M; + view all
(2018)
Gaussian processes with optimal kernel construction for neuro-degenerative clinical onset prediction.
In:
Proceedings Volume 10575, Medical Imaging 2018: Computer-Aided Diagnosis.
(pp. 105750G-1- 105750G-6).
SPIE: Houston, Texas, United States.
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Canas, LS;
Yvernault, BC;
Sudre, CH;
Vita, ED;
Cardoso, MJ;
Thornton, JS;
Barkhof, F;
... Modat, M; + view all
(2018)
Imaging biomarkers for the diagnosis of Prion disease.
In: Angelini, ED and Landman, BA, (eds.)
Medical Imaging 2018: Image Processing.
(pp. p. 1057405).
SPIE: Houston, Texas, United States.
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Clayton, EL;
Milioto, C;
Muralidharan, B;
Norona, FE;
Edgar, JR;
Soriano, A;
Jafar-Nejad, P;
... Isaacs, AM; + view all
(2018)
Frontotemporal dementia causative CHMP2B impairs neuronal endolysosomal traffic-rescue by TMEM106B knockdown.
Brain
, 141
(12)
pp. 3428-3442.
10.1093/brain/awy284.
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Collinge, J;
Purro, SA;
Nicoll, A;
(2018)
Prion Protein as a Toxic Acceptor of Amyloid-β Oligomers.
Biological Psychiatry
, 83
(4)
pp. 358-368.
10.1016/j.biopsych.2017.11.020.
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D
Devenney, E;
Swinn, T;
Mioshi, E;
Hornberger, M;
Dawson, KE;
Mead, S;
Rowe, JB;
(2018)
The behavioural variant frontotemporal dementia phenocopy syndrome is a distinct entity - evidence from a longitudinal study.
BMC Neurology
, 18
, Article 56. 10.1186/s12883-018-1060-1.
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F
Fassad, MR;
Shoemark, A;
le Borgne, P;
Koll, F;
Patel, M;
Dixon, M;
Hayward, J;
... Mitchison, HM; + view all
(2018)
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
The American Journal of Human Genetics
, 102
(5)
pp. 956-972.
10.1016/j.ajhg.2018.03.024.
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Fassad, MR;
Shoemark, A;
Legendre, M;
Hirst, RA;
Koll, F;
le Borgne, P;
Louis, B;
... Mitchison, HM; + view all
(2018)
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
The American Journal of Human Genetics
10.1016/j.ajhg.2018.10.016.
(In press).
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Foiani, MS;
Woollacott, IO;
Heller, C;
Bocchetta, M;
Heslegrave, A;
Dick, KM;
Russell, LL;
... Rohrer, JD; + view all
(2018)
Plasma tau is increased in frontotemporal dementia.
Journal of Neurology, Neurosurgery and Psychiatry
, 89
(8)
pp. 804-807.
10.1136/jnnp-2017-317260.
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G
Galimberti, D;
Fumagalli, GG;
Fenoglio, C;
Cioffi, SMG;
Arighi, A;
Serpente, M;
Borroni, B;
... Genetic FTD Initiative (GENFI); + view all
(2018)
Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study.
Neurobiology of Aging
, 62
245.e9-245.e12.
10.1016/j.neurobiolaging.2017.10.016.
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Guerreiro, R;
Orme, T;
Neto, JL;
Bras, J;
International DLB Genetics Consortium, .;
(2018)
LRP10 in alpha-synucleinopathies.
Lancet Neurology
, 17
(12)
pp. 1032-1033.
10.1016/S1474-4422(18)30399-5.
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Guerreiro, R;
Ross, OA;
Kun-Rodrigues, C;
Hernandez, DG;
Orme, T;
Eicher, JD;
Shepherd, CE;
... Bras, J; + view all
(2018)
Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.
The Lancet Neurology
, 17
(1)
pp. 64-74.
10.1016/S1474-4422(17)30400-3.
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I
Irving, S;
Dixon, M;
Fassad, MR;
Frost, E;
Hayward, J;
Kilpin, K;
Ollosson, S;
... Bush, A; + view all
(2018)
Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index.
Lung
, 196
(2)
pp. 231-238.
10.1007/s00408-018-0086-x.
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J
Jaunmuktane, Z;
Quaegebeur, A;
Taipa, R;
Viana-Baptista, M;
Barbosa, R;
Koriath, C;
Sciot, R;
... Brandner, S; + view all
(2018)
Evidence of amyloid-β cerebral amyloid angiopathy transmission through neurosurgery.
Acta Neuropathologica
, 135
(5)
pp. 671-679.
10.1007/s00401-018-1822-2.
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Jiskoot, LC;
Bocchetta, M;
Nicholas, JM;
Cash, DM;
Thomas, D;
Modat, M;
Ourselin, S;
... Rohrer, JD; + view all
(2018)
Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross-sectional diffusion tensor imaging study.
Annals of Clinical and Translational Neurology
, 5
(9)
pp. 1025-1036.
10.1002/acn3.601.
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Joiner, S;
Asante, EA;
Linehan, JM;
Brock, L;
Brandner, S;
Bellworthy, SJ;
Simmons, MM;
... Wadsworth, JDF; + view all
(2018)
Experimental sheep BSE prions generate the vCJD phenotype when serially passaged in transgenic mice expressing human prion protein.
Journal of the Neurological Sciences
, 386
pp. 4-11.
10.1016/j.jns.2017.12.038.
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K
Koriath, C;
(2018)
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
Molecular Psychiatry
10.1038/s41380-018-0224-0.
(In press).
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L
Larrieu, D;
Vire, E;
Robson, S;
Breusegem, SY;
Kouzarides, T;
Jackson, SP;
(2018)
Inhibition of the acetyltransferase NAT10 normalizes progeric and aging cells by rebalancing the Transportin-1 nuclear import pathway.
Science Signaling
, 11
(537)
, Article eaar5401. 10.1126/scisignal.aar5401.
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M
Manka, SW;
Moores, CA;
(2018)
Microtubule structure by cryo-EM: snapshots of dynamic instability.
Essays in Biochemistry
, 62
(6)
pp. 737-751.
10.1042/EBC20180031.
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Manka, SW;
Moores, CA;
(2018)
The role of tubulin-tubulin lattice contacts in the mechanism of microtubule dynamic instability.
Nature Structural & Molecular Biology
, 25
(7)
pp. 607-615.
10.1038/s41594-018-0087-8.
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Mok, TH;
Koriath, C;
Jaunmuktane, Z;
Campbell, T;
Joiner, S;
Wadsworth, JDF;
Hosszu, LLP;
... Mead, S; + view all
(2018)
Evaluating the causality of novel sequence variants in the prion protein gene by example.
Neurobiology of Aging
, 71
265.e1-265.e7.
10.1016/j.neurobiolaging.2018.05.011.
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N
Nihat, A;
Mead, S;
(2018)
Detection of Creutzfeldt-Jakob disease prions in skin: implications for healthcare.
Genome Medicine
, 10
(1)
, Article 22. 10.1186/s13073-018-0536-3.
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P
Peloso, GM;
van der Lee, SJ;
Sims, R;
van der Lee, SJ;
Naj, AC;
Bellenguez, C;
Badarinarayan, N;
... Crane, PK; + view all
(2018)
Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease.
Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring
, 10
pp. 595-598.
10.1016/j.dadm.2018.08.008.
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Pottier, C;
Zhou, X;
Perkerson, RB;
Baker, M;
Jenkins, GD;
Serie, DJ;
Ghidoni, R;
... Rademakers, R; + view all
(2018)
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
The Lancet Neurology
, 17
(6)
pp. 548-558.
10.1016/S1474-4422(18)30126-1.
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Purro, SA;
Farrow, MA;
Linehan, J;
Nazari, T;
Thomas, DX;
Chen, Z;
Mengel, D;
... Collinge, J; + view all
(2018)
Transmission of amyloid-β protein pathology from cadaveric pituitary growth hormone.
Nature
, 564
(7736)
pp. 415-419.
10.1038/s41586-018-0790-y.
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R
Rudge, P;
Hyare, H;
Green, A;
Collinge, J;
Mead, S;
(2018)
Imaging and CSF analyses effectively distinguish CJD from its mimics.
Journal of Neurology, Neurosurgery, and Psychiatry
, 89
(5)
pp. 461-466.
10.1136/jnnp-2017-316853.
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S
Shoemark, A;
Burgoyne, T;
Kwan, R;
Dixon, M;
Patel, MP;
Rogers, AV;
Onoufriadis, A;
... Hogg, C; + view all
(2018)
Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.
European Respiratory Journal
, 51
(2)
, Article 1701809. 10.1183/13993003.01809-2017.
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Spehar, K;
Ding, T;
Sun, Y;
Kedia, N;
Lu, J;
Nahass, G;
Lew, M;
(2018)
Super‐resolution Imaging of Amyloid Structures over Extended Times by Using Transient Binding of Single Thioflavin T Molecules.
ChemBioChem
, 19
(18)
pp. 1944-1948.
10.1002/cbic.201800352.
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T
Thompson, AGB;
Luk, C;
Heslegrave, AJ;
Zetterberg, H;
Mead, SH;
Collinge, J;
Jackson, GS;
(2018)
Neurofilament light chain and tau concentrations are markedly increased in the serum of patients with sporadic Creutzfeldt-Jakob disease, and tau correlates with rate of disease progression.
Journal of Neurology, Neurosurgery & Psychiatry
, 89
(9)
pp. 955-961.
10.1136/jnnp-2017-317793.
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W
Weston, PSJ;
Poole, T;
Ryan, NS;
Nair, A;
Liang, Y;
Macpherson, K;
Druyeh, R;
... Fox, NC; + view all
(2018)
Accelerated long-term forgetting in presymptomatic Autosomal Dominant Alzheimer's disease: A cross-sectional study.
Lancet Neurology
, 17
(2)
pp. 123-132.
10.1016/S1474-4422(17)30434-9.
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Y
Young, AL;
Marinescu, RV;
Oxtoby, NP;
Bocchetta, M;
Yong, K;
Firth, NC;
Cash, DM;
... Alzheimer’s Disease Neuroimaging Initiative (ADNI), .; + view all
(2018)
Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference.
Nature Communications
, 9
, Article 4273. 10.1038/s41467-018-05892-0.
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Z
Zhang, M;
Ferrari, R;
Tartaglia, MC;
Keith, J;
Surace, EI;
Wolf, U;
Sato, C;
... International FTD-Genomics Consortium (IFGC), .; + view all
(2018)
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.
Brain
, 141
(10)
pp. 2895-2907.
10.1093/brain/awy238.
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Zhang, W;
Lukoynova, N;
Miah, S;
Lucas, J;
Vaughan, CK;
(2018)
Insights into Centromere DNA Bending Revealed by the Cryo-EM Structure of the Core Centromere Binding Factor 3 with Ndc10.
Cell Reports
, 24
(3)
pp. 744-754.
10.1016/j.celrep.2018.06.068.
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