Browse by UCL people
Group by: Type | Date
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Number of items: 22.
Article
Altmann, A;
Aksman, LM;
Oxtoby, NP;
Young, AL;
Alexander, DC;
Barkhof, F;
Shoai, M;
... Schott, JM; + view all
(2024)
Towards cascading genetic risk in Alzheimer’s disease.
Brain
, 147
(8)
pp. 2680-2690.
10.1093/brain/awae176.
|
Altmann, A;
Scelsi, M;
Shoai, M;
De Silva, E;
Aksman, L;
Cash, D;
Hardy, J;
(2020)
A comprehensive analysis of methods for assessing polygenic burden on Alzheimer’s disease pathology and risk beyond APOE.
Brain Communications
, 2
(1)
, Article fcz047. 10.1093/braincomms/fcz047.
|
Duran, R;
Mencacci, NE;
Angeli, AV;
Shoai, M;
Deas, E;
Houlden, H;
Mehta, A;
... Foltynie, T; + view all
(2013)
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
Movement Disorders
, 28
(2)
232 - 236.
10.1002/mds.25248.
|
Escott-Price, V;
Baker, E;
Shoai, M;
Leonenko, G;
Myers, AJ;
Huentelman, M;
Hardy, J;
(2019)
Genetic analysis suggests high misassignment rates in clinical Alzheimer's cases and controls.
Neurobiology of Aging
, 77
pp. 178-182.
10.1016/j.neurobiolaging.2018.12.002.
|
Escott-Price, V;
Myers, A;
Huentelman, M;
Shoai, M;
Hardy, J;
(2019)
Polygenic Risk Score Analysis of Alzheimer’s Disease in Cases without APOE4 or APOE2 Alleles.
The Journal of Prevention of Alzheimer’s Disease
, 6
(1)
pp. 16-19.
10.14283/jpad.2018.46.
|
Escott-Price, V;
Shoai, M;
Pither, R;
Williams, J;
Hardy, J;
(2017)
Polygenic score prediction captures nearly all common genetic risk for Alzheimer's disease.
Neurobiology of Aging
, 49
214.e7-214.e11.
10.1016/j.neurobiolaging.2016.07.018.
|
Fratta, P;
Charnock, J;
Collins, T;
Devoy, A;
Howard, R;
Malaspina, A;
Orrell, R;
... Fisher, EM; + view all
(2013)
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
, 85
pp. 506-508.
10.1136/jnnp-2013-306761.
|
Haider, S;
Shoai, M;
Shah, R;
Turner, C;
Bahra, A;
(2024)
Novel screening tool for secondary headache in acute care—A pilot study.
Clinical Medicine
, 24
(2)
, Article 100005. 10.1016/j.clinme.2023.100005.
|
Ibanez, Kristina;
Jadhav, Bharati;
Zanovello, Matteo;
Gagliardi, Delia;
Clarkson, Christopher;
Facchini, Stefano;
Garg, Paras;
... Tucci, Arianna; + view all
(2024)
Increased frequency of repeat expansion mutations across different populations.
Nature Medicine
10.1038/s41591-024-03190-5.
(In press).
|
Jabbari, E;
Koga, S;
Valentino, R;
Reynolds, R;
Ferrari, R;
Tan, M;
Rowe, J;
... Morris, H; + view all
(2021)
Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study.
The Lancet Neurology
, 20
(2)
pp. 107-116.
10.1016/S1474-4422(20)30394-X.
|
Jabbari, E;
Woodside, J;
Tan, MMX;
Shoai, M;
Pittman, A;
Ferrari, R;
Mok, KY;
... Morris, HR; + view all
(2018)
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype.
Annals of Neurology
, 84
(4)
pp. 485-496.
10.1002/ana.25308.
|
Jansen, IE;
Savage, JE;
Watanabe, K;
Bryois, J;
Williams, DM;
Steinberg, S;
Sealock, J;
... Posthuma, D; + view all
(2019)
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.
Nature Genetics
, 51
pp. 404-413.
10.1038/s41588-018-0311-9.
|
Kamalidehghan, B;
Habibi, M;
Afjeh, SS;
Shoai, M;
Alidoost, S;
Ghale, RA;
Eshghifar, N;
(2020)
The importance of small non-coding RNAs in human reproduction: A review article.
Application of Clinical Genetics
, 13
pp. 1-11.
10.2147/TACG.S207491.
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Khalid, M;
Murphy, D;
Shoai, M;
George-William, JN;
Al-ebini, Y;
(2023)
Geographical distribution of host's specific SARS-CoV-2 mutations in the early phase of the COVID-19 pandemic.
Gene
, 851
, Article 147020. 10.1016/j.gene.2022.147020.
|
Leonenko, G;
Shoai, M;
Bellou, E;
Sims, R;
Williams, J;
Hardy, J;
Escott-Price, V;
(2019)
Genetic risk for alzheimer disease is distinct from genetic risk for amyloid deposition.
Annals of Neurology
, 86
(3)
pp. 427-435.
10.1002/ana.25530.
|
Leonenko, G;
Sims, R;
Shoai, M;
Frizzati, A;
Bossu, P;
Spalletta, G;
Fox, NC;
... Munger, R; + view all
(2019)
Polygenic risk and hazard scores for Alzheimer's disease prediction.
Annals of Clinical and Translational Neurology
, 6
(3)
pp. 456-465.
10.1002/acn3.716.
|
Morgan, S;
Shatunov, A;
Sproviero, W;
Jones, AR;
Shoai, M;
Hughes, D;
Al Khleifat, A;
... Al-Chalabi, A; + view all
(2017)
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Brain
, 140
(6)
pp. 1611-1618.
10.1093/brain/awx082.
|
Proukakis, C;
Shoaee, M;
Morris, J;
Brier, T;
Kara, E;
Sheerin, UM;
Charlesworth, G;
... Schapira, AH; + view all
(2014)
Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.
Mov Disord
, 29
(8)
060-1064.
10.1002/mds.25883.
|
Sproviero, W;
Shatunov, A;
Stahl, D;
Shoai, M;
van Rheenen, W;
Jones, AR;
Al-Sarraj, S;
... Al-Chalabi, A; + view all
(2017)
ATXN2 trinucleotide repeat length correlates with risk of ALS.
Neurobiology of Aging
, 51
178.e1-178.e9.
10.1016/j.neurobiolaging.2016.11.010.
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Tan, MMX;
Lawton, MA;
Jabbari, E;
Reynolds, RH;
Iwaki, H;
Blauwendraat, C;
Kanavou, S;
... Morris, HR; + view all
(2020)
Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease.
Movement Disorders
10.1002/mds.28342.
(In press).
|
Zhou, X;
Chen, Y;
Ip, FCF;
Lai, NCH;
Li, YYT;
Jiang, Y;
Zhong, H;
... Ip, NY; + view all
(2020)
Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population.
Alzheimers Dement (Amst)
, 12
(1)
, Article e12074. 10.1002/dad2.12074.
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Working / discussion paper
Salih, D;
Bayram, S;
Guelfi, MS;
Reynolds, RH;
Shoai, M;
Ryten, M;
Brenton, J;
... Escott-Price, V; + view all
(2018)
Genetic variability in response to Aβ deposition influences Alzheimer's risk.
BioRxiv: Cold Spring Harbor, NY, USA.
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