Browse by UCL people
Group by: Type | Date
Number of items: 56.
Article
Alić, I;
Goh, PA;
Murray, A;
Portelius, E;
Gkanatsiou, E;
Gough, G;
Mok, KY;
... Nižetić, D; + view all
(2020)
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain.
Molecular Psychiatry
10.1038/s41380-020-0806-5.
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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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Bandres-Ciga, S;
Ahmed, S;
Sabir, MS;
Blauwendraat, C;
Adarmes-Gomez, AD;
Bernal-Bernal, I;
Bonilla-Toribio, M;
... Singleton, A; + view all
(2019)
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Movement Disorders
10.1002/mds.27864.
(In press).
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Bandres-Ciga, S;
Saez-Atienzar, S;
Bonet-Ponce, L;
Billingsley, K;
Vitale, D;
Blauwendraat, C;
Gibbs, JR;
... Singleton, AB; + view all
(2019)
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.
Movement Disorders
, 34
(4)
pp. 460-468.
10.1002/mds.27614.
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Billingsley, KJ;
Barbosa, IA;
Bandrés-Ciga, S;
Quinn, JP;
Bubb, VJ;
Deshpande, C;
Botia, JA;
... Koks, S; + view all
(2019)
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.
npj Parkinson's Disease
, 5
, Article 8. 10.1038/s41531-019-0080-x.
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Blauwendraat, C;
Iwaki, H;
Makarious, MB;
Bandres-Ciga, S;
Leonard, H;
Grenn, FP;
Lake, J;
... Lynch, TL; + view all
(2021)
Investigation of Autosomal Genetic Sex Differences in Parkinson's disease.
Annals of Neurology
, 90
(1)
pp. 35-42.
10.1002/ana.26090.
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Blauwendraat, C;
Faghri, F;
Pihlstrom, L;
Geiger, JT;
Elbaz, A;
Lesage, S;
Corvol, J-C;
... Scholz, S; + view all
(2017)
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.
Neurobiology of Aging
, 57
247.e9-247.e13.
10.1016/j.neurobiolaging.2017.05.009.
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Blauwendraat, C;
Kia, DA;
Pihlstrom, L;
Gan-Or, Z;
Lesage, S;
Gibbs, JR;
Ding, J;
... Wood, NW; + view all
(2018)
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
Neurobiology of Aging
, 64
159.e5-159.e8.
10.1016/j.neurobiolaging.2017.12.012.
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Blauwendraat, C;
Reed, X;
Kia, DA;
Gan-Or, Z;
Lesage, S;
Pihlstrøm, L;
Guerreiro, R;
... COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Ge; + view all
(2018)
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
JAMA Neurology
10.1001/jamaneurol.2018.1885.
(In press).
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Boot, E;
Butcher, NJ;
Udow, S;
Marras, C;
Mok, KY;
Kaneko, S;
Barrett, MJ;
... International Research Group on 22q11.2DS-associated Parkinson's; + view all
(2018)
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.
Neurology
, 90
(23)
e2059-e2067.
10.1212/WNL.0000000000005660.
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Cali, CP;
Patino, M;
Tai, YK;
Ho, WY;
McLean, CA;
Morris, CM;
Seeley, WW;
... Lee, EB; + view all
(2019)
C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy.
Acta Neuropathologica
, 138
(5)
pp. 795-811.
10.1007/s00401-019-02045-5.
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Chen, Z;
Zhang, D;
Reynolds, RH;
Gustavsson, EK;
García-Ruiz, S;
D'Sa, K;
Fairbrother-Browne, A;
... Ryten, M; + view all
(2021)
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Nature Communications
, 12
, Article 2076. 10.1038/s41467-021-22262-5.
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Cooper-Knock, J;
Hewitt, C;
Highley, JR;
Brockington, A;
Milano, A;
Man, S;
Martindale, J;
... Shaw, PJ; + view all
(2012)
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.
Brain
, 135
(3)
751 - 764.
10.1093/brain/awr365.
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D'Souza, H;
Mason, L;
Mok, KY;
Startin, CM;
Hamburg, S;
Hithersay, R;
Baksh, RA;
... London Down Syndrome (LonDownS) Consortium; + view all
(2020)
Differential Associations of Apolipoprotein E ε4 Genotype With Attentional Abilities Across the Life Span of Individuals With Down Syndrome.
JAMA Network Open
, 3
(9)
, Article e2018221. 10.1001/jamanetworkopen.2020.18221.
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Firth, NC;
Startin, CM;
Hithersay, R;
Hamburg, S;
Wijeratne, PA;
Mok, KY;
Hardy, J;
... Strydom, A; + view all
(2018)
Aging related cognitive changes associated with Alzheimer's disease in Down syndrome.
Annals of Clinical and Translational Neurology
, 5
(6)
pp. 741-751.
10.1002/acn3.571.
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Fratta, P;
Polke, JM;
Newcombe, J;
Mizielinska, S;
Lashley, T;
Poulter, M;
Beck, J;
... Fisher, EM; + view all
(2015)
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion.
Neurobiology of Aging
, 36
(1)
546.e1-546.e7.
10.1016/j.neurobiolaging.2014.07.037.
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Giri, A;
Mok, KY;
Jansen, I;
Sharma, M;
Tesson, C;
Mangone, G;
Lesage, S;
... Simon-Sanchez, J; + view all
(2017)
Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.
Neurobiology of Aging
, 50
, Article 167. 10.1016/j.neurobiolaging.2016.10.004.
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Guelfi, S;
D'Sa, K;
Botía, JA;
Vandrovcova, J;
Reynolds, RH;
Zhang, D;
Trabzuni, D;
... Ryten, M; + view all
(2020)
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.
Nature Communications
, 11
, Article 1041. 10.1038/s41467-020-14483-x.
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Hithersay, R;
Startin, CM;
Hamburg, S;
Mok, KY;
Hardy, J;
Fisher, EMC;
Tybulewicz, VLJ;
... Strydom, A; + view all
(2019)
Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years.
JAMA Neurology
, 76
(2)
pp. 152-160.
10.1001/jamaneurol.2018.3616.
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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.
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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.
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Jiang, Y;
Zhou, X;
Ip, FC;
Chan, P;
Chen, Y;
Lai, NCH;
Cheung, K;
... Ip, NY; + view all
(2022)
Large-scale plasma proteomic profiling identifies a high-performance biomarker panel for Alzheimer's disease screening and staging.
Alzheimer's & Dementia
, 18
(1)
pp. 88-102.
10.1002/alz.12369.
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Karmiloff-Smith, A;
Al-Janabi, T;
D'Souza, H;
Groet, J;
Massand, E;
Mok, K;
Startin, C;
... Strydom, A; + view all
(2016)
The importance of understanding individual differences in Down syndrome.
F1000Research
, 5
, Article 389. 10.12688/f1000research.7506.1.
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Ling, H;
Gelpi, E;
Davey, K;
Jaunmuktane, Z;
Mok, KY;
Jabbari, E;
Simone, R;
... Revesz, T; + view all
(2020)
Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates.
Acta Neuropathologica
10.1007/s00401-019-02119-4.
(In press).
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Ling, H;
Kearney, S;
Yip, HL;
Silveira-Moriyama, L;
Revesz, T;
Holton, JL;
Strand, C;
... Lees, AJ; + view all
(2015)
Parkinson's disease without nigral degeneration: a pathological correlate of scans without evidence of dopaminergic deficit (SWEDD)?
J Neurol Neurosurg Psychiatry
10.1136/jnnp-2015-310756.
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Ling, H;
Kovacs, GG;
Vonsattel, JP;
Davey, K;
Mok, KY;
Hardy, J;
Morris, HR;
... Revesz, T; + view all
(2016)
Astrogliopathy predominates the earliest stage of corticobasal degeneration pathology.
Brain
, 139
(12)
pp. 3237-3252.
10.1093/brain/aww256.
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Lubbe, SJ;
Escott-Price, V;
Gibbs, JR;
Nalls, MA;
Bras, J;
Price, TR;
Nicolas, A;
... for International Parkinson’s Disease Genomics Consortium, .; + view all
(2016)
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.
Human Molecular Genetics
, 25
(24)
pp. 5483-5489.
10.1093/hmg/ddw348.
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Mahoney, CJ;
Beck, J;
Rohrer, JD;
Lashley, T;
Mok, K;
Shakespeare, T;
Yeatman, T;
... Warren, JD; + view all
(2012)
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features.
Brain
, 135
(3)
736 - 750.
10.1093/brain/awr361.
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Majounie, E;
Renton, AE;
Mok, K;
Dopper, EG;
Waite, A;
Rollinson, S;
Chiò, A;
... Traynor, BJ; + view all
(2012)
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
Lancet Neurology
, 11
(4)
323 - 330.
10.1016/S1474-4422(12)70043-1.
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Mencacci, NE;
Isaias, IU;
Reich, MM;
Ganos, C;
Plagnol, V;
Polke, JM;
Bras, J;
... on behalf of the International Parkinson’s Disease Genomics Cons; + view all
(2014)
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Brain
, 137
(9)
pp. 2480-2492.
10.1093/brain/awu179.
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Mencacci, NE;
Reynolds, R;
Ruiz, SG;
Vandrovcova, J;
Forabosco, P;
Sánchez-Ferrer, A;
Volpato, V;
... Ryten, M; + view all
(2020)
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.
Brain
, Article awaa217. 10.1093/brain/awaa217.
(In press).
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Mok, KY;
East Asian Parkinson Disease Genomics Consortium;
(2021)
The East Asian Parkinson Disease Genomics Consortium.
The Lancet Neurology
, 20
(12)
p. 982.
10.1016/S1474-4422(21)00373-2.
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Mok, K;
Traynor, BJ;
Schymick, J;
Tienari, PJ;
Laaksovirta, H;
Peuralinna, T;
Myllykangas, L;
... Hardy, J; + view all
(2012)
Chromosome 9 ALS and FTD locus is probably derived from a single founder.
Neurobiology of Disease
, 33
(1)
209.e3 - 209.e8.
10.1016/j.neurobiolaging.2011.08.005.
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Mok, KY;
Hardy, J;
Jones, EL;
Ballard, C;
Hanney, M;
Harold, D;
Sims, R;
(2014)
Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome.
Neurobiology of Aging
, 35
(6)
1513.e1-1513.e5.
10.1016/j.neurobiolaging.2013.12.022.
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Mok, KY;
Koutsis, G;
Schottlaender, LV;
Polke, J;
Panas, M;
Houlden, H;
(2012)
High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.
Neurobioly of Aging
, 33
(8)
1851.e1 - 1851.e5.
10.1016/j.neurobiolaging.2012.02.021.
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Mok, KY;
Schneider, SA;
Trabzuni, D;
Stamelou, M;
Edwards, M;
Kasperaviciute, D;
Pickering-Brown, S;
... Bhatia, KP; + view all
(2014)
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.
Mov Disord
, 29
(2)
pp. 245-251.
10.1002/mds.25732.
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Mok, KY;
Sheerin, U;
Simón-Sánchez, J;
Salaka, A;
Chester, L;
Escott-Price, V;
Mantripragada, K;
... Wood, NW; + view all
(2016)
Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.
Lancet Neurology
, 15
(6)
pp. 585-596.
10.1016/S1474-4422(16)00071-5.
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Nalini, A;
Pandraud, A;
Mok, K;
Houlden, H;
(2013)
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.
Journal of the Neurological Sciences
, 334
(1-2)
119 - 122.
10.1016/j.jns.2013.08.003.
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Nalls, MA;
Blauwendraat, C;
Vallerga, CL;
Heilbron, K;
Bandres-Ciga, S;
Chang, D;
Tan, M;
... Guerreiro, R; + view all
(2019)
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.
The Lancet Neurology
, 18
(12)
pp. 1091-1102.
10.1016/S1474-4422(19)30320-5.
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Noyce, Alastair;
(2021)
GP2 : The Global Parkinson's Genetics Program.
Movement Disorders
10.1002/mds.28494.
(In press).
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Plagnol, V;
Curtis, J;
Epstein, M;
Mok, KY;
Stebbings, E;
Grigoriadou, S;
Wood, NW;
... Nejentsev, S; + view all
(2012)
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
Bioinformatics
, 28
(21)
2747 - 2754.
10.1093/bioinformatics/bts526.
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Reynolds, RH;
Botía, J;
Nalls, MA;
International Parkinson’s Disease Genomics Consortium (IPDGC), .;
System Genomics of Parkinson’s Disease (SGPD), .;
Hardy, J;
Gagliano Taliun, SA;
(2019)
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability.
NPJ Parkinson's Disease
, 5
, Article 6. 10.1038/s41531-019-0076-6.
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Sailer, A;
Scholz, SW;
Nalls, MA;
Schulte, C;
Federoff, M;
Price, TR;
Lees, A;
... European Multiple System Atrophy Study Group and the UK Multiple; + view all
(2016)
A genome-wide association study in multiple system atrophy.
Neurology
, 87
(15)
pp. 1591-1598.
10.1212/WNL.0000000000003221.
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Sandberg, A;
Ling, H;
Gearing, M;
Dombroski, B;
Cantwell, L;
R'Bibo, L;
Levey, A;
... Mok, KY; + view all
(2020)
Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R.
Neurobiology of Disease
, 146
, Article 105079. 10.1016/j.nbd.2020.105079.
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Schumacher-Schuh, Artur Francisco;
Bieger, Andrei;
Okunoye, Olaitan;
Mok, Kin Ying;
Lim, Shen-Yang;
Bardien, Soraya;
Ahmad-Annuar, Azlina;
... Global Parkinson's Genetics Program (GP2), .; + view all
(2022)
Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions.
Movement Disorders
, 37
(8)
pp. 1593-1604.
10.1002/mds.29126.
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Startin, CM;
Hamburg, S;
Hithersay, R;
Al-Janabi, T;
Mok, KY;
Hardy, J;
LonDownS Consortium, .;
(2019)
Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome.
Alzheimer's & Dementia
, 15
(2)
pp. 245-257.
10.1016/j.jalz.2018.08.009.
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Startin, CM;
Ashton, NJ;
Hamburg, S;
Hithersay, R;
Wiseman, FK;
Mok, KY;
Hardy, J;
... Strydom, A; + view all
(2019)
Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer's disease.
Alzheimer's Research & Therapy
, 11
, Article 26. 10.1186/s13195-019-0477-0.
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Startin, CM;
D'Souza, H;
Ball, G;
Hamburg, S;
Hithersay, R;
Hughes, KMO;
Massand, E;
... Strydom, A; + view all
(2020)
Health comorbidities and cognitive abilities across the lifespan in Down syndrome.
Journal of Neurodevelopmental Disorders
, 12
, Article 4. 10.1186/s11689-019-9306-9.
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Strydom, A;
Heslegrave, A;
Startin, CM;
Mok, KY;
Hardy, J;
Groet, J;
Nizetic, D;
... LonDownS Consortium; + view all
(2018)
Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome.
Alzheimer's Research & Therapy
, 10
(1)
, Article 39. 10.1186/s13195-018-0367-x.
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Thomas, MSC;
Ojinaga Alfageme, O;
D'Souza, H;
Patkee, PA;
Rutherford, MA;
Mok, KY;
Hardy, J;
... LonDownS Consortium; + view all
(2020)
A multi-level developmental approach to exploring individual differences in Down syndrome: genes, brain, behaviour, and environment.
Research in Developmental Disabilities
, 104
, Article 103638. 10.1016/j.ridd.2020.103638.
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Yaldizli, Ö;
Sethi, V;
Pardini, M;
Tur, C;
Mok, KY;
Muhlert, N;
Liu, Z;
... Chard, DT; + view all
(2018)
Response to the commentary of Yates RL and DeLuca GC on the study: HLA-DRB1*1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis.
Multiple Sclerosis and Related Disorders
, 19
pp. 168-170.
10.1016/j.msard.2016.08.006.
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Yaldizli, Ö;
Sethi, V;
Pardini, M;
Tur, C;
Mok, KY;
Muhlert, N;
Liu, Z;
... Chard, DT; + view all
(2016)
HLA-DRB∗1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis.
Multiple Sclerosis and Related Disorders
, 7
pp. 47-52.
10.1016/j.msard.2016.03.003.
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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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Zhou, X;
Chen, Y;
Mok, KY;
Kwok, TCY;
Mok, VCT;
Guo, Q;
Ip, FC;
... Furst, AJ; + view all
(2019)
Non-coding variability at the APOE locus contributes to the Alzheimer's risk.
Nature Communications
, 10
, Article 3310. 10.1038/s41467-019-10945-z.
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Zhou, X;
Chen, Y;
Mok, KY;
Zhao, Q;
Chen, K;
Chen, Y;
Hardy, J;
... Ip, NY; + view all
(2018)
Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer's disease pathogenesis.
Proceedings of the National Academy of Sciences of the United States of America
, 115
(8)
pp. 1697-1706.
10.1073/pnas.1715554115.
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Thesis
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Mok, KYB;
(2013)
Genetics of Neurodegenerative Disease -- A Genome-Wide Approach.
Doctoral thesis , UCL (University College London).
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