Browse by UCL people
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Number of items: 191.
Article
100,000 Genomes Project Pilot Investigators;
Smedley, D;
Smith, KR;
Martin, A;
Thomas, EA;
McDonagh, EM;
Cipriani, V;
... Caulfield, M; + view all
(2021)
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report.
New England Journal of Medicine
, 385
(20)
pp. 1868-1880.
10.1056/NEJMoa2035790.
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Ahmed, S;
Fairen, MD;
Sabir, MS;
Pastor, P;
Ding, J;
Ispierto, L;
Butala, A;
... Scholz, SW; + view all
(2019)
MAPT p.V363I mutation: A rare cause of corticobasal degeneration.
Neurology Genetics
, 5
(4)
, Article e347. 10.1212/NXG.0000000000000347.
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Akçimen, Fulya;
Paquette, Kimberly;
Wild Crea, Peter;
Step, Kathryn;
Waldo, Emily;
Koretsky, Mathew J;
Saffie-Awad, Paula;
... Bandres-Ciga, Sara; + view all
(2025)
Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.
Brain
, Article awaf379. 10.1093/brain/awaf379.
(In press).
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Alfradique-Dunham, I;
Al-Ouran, R;
von Coelln, R;
Blauwendraat, C;
Hill, E;
Luo, L;
Stillwell, A;
... Shulman, JM; + view all
(2021)
Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes.
Neurology: Genetics
, 7
(2)
, Article e557. 10.1212/NXG.0000000000000557.
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Antar, T;
Morris, HR;
Faghri, F;
Leonard, HL;
Nalls, MA;
Singleton, AB;
Iwaki, H;
(2021)
Longitudinal risk factors for developing depressive symptoms in Parkinson's disease.
Journal of the Neurological Sciences
, 429
, Article 117615. 10.1016/j.jns.2021.117615.
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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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Athauda, D;
Evans, J;
Wernick, A;
Virdi, G;
Choi, ML;
Lawton, M;
Vijiaratnam, N;
... Gandhi, S; + view all
(2022)
The Impact of Type 2 Diabetes in Parkinson's Disease.
Movement Disorders
10.1002/mds.29122.
(In press).
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Auger, SD;
Kanavou, S;
Lawton, M;
Ben‐Shlomo, Y;
Hu, MT;
Schrag, AE;
Morris, HR;
... Noyce, AJ; + view all
(2020)
Testing Shortened Versions of Smell Tests to Screen for Hyposmia in Parkinson's Disease.
Movement Disorders Clinical Practice
, 7
(4)
pp. 394-398.
10.1002/mdc3.12928.
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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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Barbosa, PM;
Djamshidian, A;
O'Sullivan, SS;
De Pablo-Fernandez, E;
Korlipara, P;
Morris, HR;
Bhatia, KP;
... Warner, TT; + view all
(2019)
The long-term outcome of impulsive compulsive behaviours in Parkinson's disease.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2018-319891.
(In press).
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Bettencourt, C;
Morris, HR;
Singleton, AB;
Hardy, J;
Houlden, H;
(2013)
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.
Journal of Neurology
, 260
(9)
pp. 2414-2416.
10.1007/s00415-013-7044-6.
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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, Cornelis;
Morris, Huw R;
Van Keuren-Jensen, Kendall;
Noyce, Alastair J;
Singleton, Andrew B;
(2025)
The temporal order of genetic, environmental, and pathological risk factors in Parkinson's disease: paving the way to prevention.
The Lancet Neurology
, 24
(11)
pp. 969-975.
10.1016/S1474-4422(25)00271-6.
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Blauwendraat, Cornelis;
Tayebi, Nahid;
Woo, Elizabeth Geena;
Lopez, Grisel;
Fierro, Luca;
Toffoli, Marco;
Limbachiya, Naomi;
... Sidransky, Ellen; + view all
(2023)
Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease.
Movement Disorders
10.1002/mds.29342.
(In press).
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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;
Heilbron, K;
Vallerga, CL;
Bandres-Ciga, S;
von Coelln, R;
Pihlstrøm, L;
Simón-Sánchez, J;
... International Parkinson's Disease Genomics Consortium (IPDGC); + view all
(2019)
Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.
Movement Disorders
10.1002/mds.27659.
(In press).
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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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Blauwendraat, C;
Reed, X;
Krohn, L;
Heilbron, K;
Bandres-Ciga, S;
Tan, M;
Gibbs, JR;
... Singleton, AB; + view all
(2020)
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Brain
, 143
(1)
pp. 234-248.
10.1093/brain/awz350.
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Bocchetta, M;
Iglesias, JE;
Chelban, V;
Jabbari, E;
Lamb, R;
Russell, LL;
Greaves, CV;
... Rohrer, JD; + view all
(2020)
Automated Brainstem Segmentation Detects Differential Involvement in Atypical Parkinsonian Syndromes.
Journal of Movement Disorders
, 13
(1)
pp. 39-46.
10.14802/jmd.19030.
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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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Bonham, LW;
Steele, NZR;
Karch, CM;
Broce, I;
Geier, EG;
Wen, NL;
Momeni, P;
... International FTD-Genomics Consortium (IFGC), .; + view all
(2019)
Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia.
Scientific Reports
, 9
, Article 10854. 10.1038/s41598-019-46415-1.
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Bourinaris, T;
Smedley, D;
Cipriani, V;
Sheikh, I;
Athanasiou-Fragkouli, A;
Chinnery, P;
Morris, H;
... Tucci, A; + view all
(2020)
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
European Journal of Human Genetics
, 28
pp. 1763-1768.
10.1038/s41431-020-00720-w.
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Bradshaw, AV;
Campbell, P;
Schapira, AHV;
Morris, HR;
Taanman, J-W;
(2021)
The PINK1-Parkin mitophagy signalling pathway is not functional in peripheral blood mononuclear cells.
PLoS One
, 16
(11)
, Article e0259903. 10.1371/journal.pone.0259903.
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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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Brown, EE;
Blauwendraat, C;
Trinh, J;
Rizig, M;
Nalls, MA;
Leveille, E;
Ruskey, JA;
... International Parkinson Disease Genomics Consortium (IPDGC); + view all
(2020)
Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease.
Neurobiology of Aging
10.1016/j.neurobiolaging.2020.07.002.
(In press).
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Campbell, P;
Morris, H;
Schapira, A;
(2018)
Chaperone-mediated autophagy as a therapeutic target for Parkinson disease.
Expert Opinion on Therapeutic Targets
, 22
(10)
pp. 823-832.
10.1080/14728222.2018.1517156.
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Chelban, Viorica;
Nikram, Elham;
Perez-Soriano, Alexandra;
Wilke, Carlo;
Foubert-Samier, Alexandra;
Vijiaratnam, Nirosen;
Guo, Tong;
... Houlden, Henry; + view all
(2022)
Neurofilament light levels predict clinical progression and death in multiple system atrophy.
Brain
, 145
(12)
pp. 4398-4408.
10.1093/brain/awac253.
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Chelban, Viorica;
Pellerin, David;
Vijiaratnam, Nirosen;
Lee, Hamin;
Goh, Yen Yee;
Brown, Lauren;
Sambin, Sara;
... Houlden, Henry; + view all
(2025)
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.
Brain
, Article awaf134. 10.1093/brain/awaf134.
(In press).
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Chen, Zhongbo;
Morris, Huw R;
Polke, James;
Wood, Nicholas W;
Gandhi, Sonia;
Ryten, Mina;
Houlden, Henry;
(2024)
Repeat expansion disorders.
Practical Neurology
10.1136/pn-2023-003938.
(In press).
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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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Chia, Ruth;
Ray, Anindita;
Shah, Zalak;
Ding, Jinhui;
Ruffo, Paola;
Fujita, Masashi;
Menon, Vilas;
... Scholz, Sonja W; + view all
(2024)
Genome sequence analyses identify novel risk loci for multiple system atrophy.
Neuron
10.1016/j.neuron.2024.04.002.
(In press).
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Chia, R;
Sabir, MS;
Bandres-Ciga, S;
Saez-Atienzar, S;
Reynolds, RH;
Gustavsson, E;
Walton, RL;
... Scholz, SW; + view all
(2021)
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Nature Genetics
, 53
pp. 294-30353.
10.1038/s41588-021-00785-3.
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Cullinane, Patrick W;
Fumi, Riona;
Theilmann Jensen, Marte;
Jabbari, Edwin;
Warner, Thomas T;
Revesz, Tamas;
Morris, Huw R;
... Jaunmuktane, Zane; + view all
(2023)
MAPT-Associated Familial Progressive Supranuclear Palsy with Typical Corticobasal Degeneration Neuropathology: A Clinicopathological Report.
Movement Disorders Clinical Practice
10.1002/mdc3.13706.
(In press).
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Dam, T;
Boxer, AL;
Golbe, L;
Hoeglinger, GU;
Morris, HR;
Litvan, I;
Lang, AE;
... Haeberlein, SB; + view all
(2021)
Safety and efficacy of anti-tau monoclonal antibody gosuranemab in progressive supranuclear palsy: a phase 2, randomized, placebo-controlled trial.
Nature Medicine
, 27
(8)
pp. 1451-1457.
10.1038/s41591-021-01455-x.
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de Boer, EMJ;
de Vries, BS;
Van Hecke, W;
Mühlebner, A;
Vincken, KL;
Mol, CP;
van Rheenen, W;
... van Es, MA; + view all
(2024)
Diagnosing primary lateral sclerosis: a clinico-pathological study.
Journal of Neurology
, 272
, Article 46. 10.1007/s00415-024-12816-0.
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Dewan, R;
Chia, R;
Ding, J;
Hickman, RA;
Stein, TD;
Abramzon, Y;
Ahmed, S;
... Traynor, BJ; + view all
(2021)
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Neuron
, 109
(3)
448-460.e4.
10.1016/j.neuron.2020.11.005.
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Escott-Price, V;
International, Parkinson's Disease Genomics Consortium;
Nalls, MA;
Morris, HR;
Lubbe, S;
Brice, A;
Gasser, T;
... IPDGC, consortium members; + view all
(2015)
Polygenic risk of Parkinson disease is correlated with disease age at onset.
Annals of Neurology
, 77
(4)
pp. 582-591.
10.1002/ana.24335.
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Ferrari, R;
Wang, Y;
Vandrovcova, J;
Guelfi, S;
Witeolar, A;
Karch, CM;
Schork, AJ;
... Desikan, RS; + view all
(2017)
Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.
Journal of Neurology, Neurosurgery and Psychiatry
, 88
(2)
pp. 152-164.
10.1136/jnnp-2016-314411.
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Foley, J;
Niven, E;
Paget, A;
Bhatia, K;
Farmer, S;
Jarman, P;
Limousin, P;
... Cipolotti, L; + view all
(2018)
Sensitivity and Specificity of the ECAS in Parkinson's Disease and Progressive Supranuclear Palsy.
Parkinson's Disease
, 2018
, Article 2426012. 10.1155/2018/2426012.
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Gallo, V;
McElvenny, D;
Hobbs, C;
Davoren, D;
Morris, H;
Crutch, S;
Zetterberg, H;
... Pearce, N; + view all
(2017)
BRain health and healthy AgeINg in retired rugby union players, the BRAIN Study: study protocol for an observational study in the UK.
BMJ Open
, 7
(12)
, Article e017990. 10.1136/bmjopen-2017-017990.
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Gandhi, Sacha E;
Zerenner, Tanja;
Nodehi, Anahita;
Lawton, Michael A;
Marshall, Vicky;
Al-Hajraf, Falah;
Grosset, Katherine A;
... Grosset, Donald G; + view all
(2024)
Motor Complications in Parkinson's Disease: Results from 3343 Patients Followed for up to 12 Years.
Movement Disorders Clinical Practice
, 11
(6)
pp. 686-697.
10.1002/mdc3.14044.
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Geissler, JM;
International Parkinson Disease Genomics Consortium members;
Romanos, M;
Gerlach, M;
Berg, D;
Schulte, C;
(2017)
No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson’s disease in nine ADHD candidate SNPs.
ADHD Attention Deficit and Hyperactivity Disorders
, 9
(2)
pp. 121-127.
10.1007/s12402-017-0219-8.
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Girges, C;
Vijiaratnam, N;
King, A;
Auld, G;
McComish, R;
Chowdhury, K;
Ambler, G;
... Foltynie, T; + view all
(2025)
Mild-to-moderate depressive symptoms impact on self-reported outcome measures in clinical trials for neurodegenerative diseases.
Clinical Trials
, Article 17407745251387571. 10.1177/17407745251387571.
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Gonzalez-Robles, Cristina;
Athauda, Dilan;
Barber, Thomas R;
Barker, Roger A;
Dexter, David T;
Duty, Susan;
Ellis-Doyle, Romy;
... EJS ACT-PD Consortium; + view all
(2025)
Treatment Selection and Prioritization for the EJS ACT-PD MAMS Trial Platform.
Movement Disorders
, 40
(7)
pp. 1307-1317.
10.1002/mds.30190.
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Grimm, M-J;
Respondek, G;
Stamelou, M;
Arzberger, T;
Ferguson, L;
Gelpi, E;
Giese, A;
... Movement Disorder Society-endorsed PSP Study Group, .; + view all
(2019)
How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy.
Movement Disorders
, 34
(8)
pp. 1228-1232.
10.1002/mds.27666.
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Groetsch, M-T;
Respondek, G;
Colosimo, C;
Compta, Y;
Corvol, JC;
Ferreira, J;
Huber, MK;
... Hoglinger, GU; + view all
(2021)
A Modified Progressive Supranuclear Palsy Rating Scale.
Movement Disorders
10.1002/mds.28470.
(In press).
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Gustavsson, Emil K;
Follett, Jordan;
Trinh, Joanne;
Barodia, Sandeep K;
Real, Raquel;
Liu, Zhiyong;
Grant-Peters, Melissa;
... Farrer, Matthew J; + view all
(2024)
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
The Lancet Neurology
10.1016/S1474-4422(24)00121-2.
(In press).
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Hastings, Alexandra;
Cullinane, Patrick;
Wrigley, Sarah;
Revesz, Tamas;
Morris, Huw R;
Dickson, John C;
Jaunmuktane, Zane;
... De Pablo-Fernández, Eduardo; + view all
(2024)
Neuropathologic Validation and Diagnostic Accuracy of Presynaptic Dopaminergic Imaging in the Diagnosis of Parkinsonism.
Neurology
, 102
(11)
, Article e209453. 10.1212/WNL.0000000000209453.
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Herbst, Susanne;
Lewis, Patrick A;
Morris, Huw R;
(2022)
The emerging role of LRRK2 in tauopathies.
Clinical Science
, 136
(13)
pp. 1071-1079.
10.1042/CS20220067.
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Herbst, S;
Campbell, P;
Harvey, J;
Bernard, EM;
Papayannopoulos, V;
Wood, NW;
Morris, HR;
(2020)
LRRK2 activation controls the repair of damaged endomembranes in macrophages.
The EMBO Journal
, Article e104494. 10.15252/embj.2020104494.
(In press).
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Hoeglinger, GU;
Respondek, G;
Stamelou, M;
Kurz, C;
Josephs, KA;
Lang, AE;
Mollenhauer, B;
... Litvan, I; + view all
(2017)
Clinical Diagnosis of Progressive Supranuclear Palsy: The Movement Disorder Society Criteria.
Movement Disorders
, 32
(6)
pp. 853-864.
10.1002/mds.26987.
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Hu, Michele T;
Coma, Agustin Querejeta;
Rowe, James B;
Zerenner, Tanja;
Church, Alistair;
Fumi, Riona;
Constantini, Alyssa;
... Manohar, Sanjay G; + view all
(2025)
Cognitive and neuropsychiatric profiles distinguish atypical parkinsonian syndromes.
Brain
, Article awaf132. 10.1093/brain/awaf132.
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Ingram, G;
Barwick, KE;
Hartley, L;
McEntagart, M;
Crosby, AH;
Llewelyn, G;
Morris, HR;
(2016)
Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis.
Practical Neurology
, 16
(3)
pp. 247-251.
10.1136/practneurol-2015-001307.
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Jabbari, E;
Holland, N;
Chelban, V;
Jones, PS;
Lamb, R;
Rawlinson, C;
Guo, T;
... Morris, HR; + view all
(2019)
Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome.
JAMA Neurology
, 77
(3)
pp. 377-387.
10.1001/jamaneurol.2019.4347.
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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;
Guo, T;
Magdalinou, NK;
Chelban, V;
Athauda, D;
Lees, AJ;
... Morris, HR; + view all
(2019)
Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes.
Journal of Neurology, Neurosurgery and Psychiatry
10.1136/jnnp-2018-320151.
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Jabbari, E;
Woodside, J;
Tan, MMX;
Pavese, N;
Bandmann, O;
Ghosh, BCP;
Massey, LA;
... Morris, HR; + view all
(2019)
The genetic and clinico-pathological profile of early-onset progressive supranuclear palsy.
Movement Disorders
10.1002/mds.27786.
(In press).
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Jabbari, E;
Woodside, J;
Tan, MMX;
Shoai, M;
Pittman, A;
Ferrari, R;
Mok, KY;
... Morris, HR; + view all
(2018)
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Reflexive and volitional saccadic eye movements and their changes in age and progressive supranuclear palsy.
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Clinical Diagnosis of Progressive Supranuclear Palsy (PSP): A Clinicopathological Comparison of Patients with Confirmed PSP and Clinical Mimics.
Movement Disorders
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White matter abnormalities in active elite adult rugby players.
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Working / discussion paper
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Bandres-Ciga, Sara;
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Majounie, Elisa;
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NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations.
medRxiv.org: Cold Spring Harbor, NY, USA.
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Lange, Lara M;
Levine, Kristin;
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Marras, Connie;
Ahmed, Nazish;
Kuznetsov, Nicole;
Vitale, Dan;
... Global Parkinson’s Genetics Program (GP2); + view all
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The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.
Research Square
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Reyes-Pérez, Paula;
Hor, Jia Wei;
Toh, Tzi Shin;
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Leal, Thiago Peixoto;
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Exploring MAPT-containing H1 and H2 haplotypes in Parkinson's disease across diverse populations.
medRxiv
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