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chromosome 22q deletion

Parkinson's chromosome deletion linked to other genetic disorders

Researchers, led by BRC-supported Professor Nicholas Wood, UCL Institute of Neurology, have made a breakthrough in their understanding of Parkinson’s disease after they discovered a chromosome deletion linked to Parkinson’s disease and other genetic disorders. More...

Prof John Hardy

Prof John Hardy is the first UK winner of $3m Breakthrough Prize in Life Sciences

Professor John Hardy (UCL Institute of Neurology) has been awarded the $3 million Breakthrough Prize in Life Sciences for his pioneering research into the genetic causes of Alzheimer’s disease, other forms of dementia and Parkinson’s disease. More...

John Hardy, PhD, right, accepted the 2015 Robert A. Pritzker Prize from MJFF VP Brian Fiske, PhD, and Michael J. Fox on April 15.

John Hardy awarded 2015 Robert A. Pritzker Prize for Leadership in Parkinson's Research

One of the UK Parkinson's Disease Consortium Principal Investigators, Prof John Hardy, has been awarded the 2015 Robert A. Pritzker Prize for his leadership in Parkinson's genetics research. The award was presented by Michael J. Fox at a ceremony in New York on April 15. From the Michael J. Fox Foundation website: More...

Webcast - Prof Nicholas Wood - Advances in Genetic Understanding of Parkinson's Disease.

Video: Advances in Genetic Understanding of Parkinson's Disease

Webcast of the presentation entitled ‘Advances in Genetic Understanding of Parkinson's Disease’ given by Nicholas Wood (University College London, United Kingdom) presented at the Biochemical Society Hot Topic event, PINK1-Parkin Signalling in Parkinson’s Disease and Beyond, held in December 2014. More...

Pedigrees and I-FP-CIT SPECT scan images of the four families with GCH1 mutations involved in this study.

GCH1 gene and Parkinson's risk

A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine production in the brain and lead to a form of childhood-onset Dystonia, also play a role in the development of Parkinson’s disease.
More...

Nicholas Wood

(Principal Investigator)

Nick Wood


Prof Nick Wood’s chief interests are the genetic variants which contribute to nervous system function and dysfunction. Over the last few years the laboratory has contributed to the finding of a number of genes which when mutated cause Parkinson's disease and other neurological conditions. Following on from these discoveries he has built a group focussed on understanding the molecular pathogenesis of PD. This involves molecular and cellular biology and live cell imaging. One of the major challenges facing neuroscience is the genetic basis of normal and abnormal function. Over the past few years this lab and colleagues (within and outside UCL) have built a programme of research based around haplotype tagging of the human genome. Currently he is directly involved in 2 genome wide associations studies focussed on two common neurological diseases (Epilepsy and Parkinsons Disease).

Nick qualified in medicine from the University of Birmingham. He went on to take a PhD in Cambridge. He was elected to the Fellowship of the Academy of Medical Science in 2004 and to senior investigator of the NIHR in 2008. He is currently Galton Professor of Genetics, a Consultant Neurologist and neuroscience programme director for UCLH NIHR Biomedical Research Centre (BRC).

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Number of items: 1430.

2018

Antelmi, E; Rocchi, L; Cocco, A; Erro, R; Latorre, A; Liguori, R; Plazzi, G; ... Bhatia, KP; + view all (2018) Cerebellar and brainstem functional abnormalities in patients with primary orthostatic tremor. Movement Disorders 10.1002/mds.27331. (In press).

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. Green open access
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Balint, B; Antelmi, E; Mencacci, NE; Batla, A; Eriksson, SH; Walker, MC; Bronstein, AM; (2018) Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related disease. Parkinsonism & Related Disorders 10.1016/j.parkreldis.2018.04.011. (In press).

Balint, B; Mencacci, NE; Valente, EM; Pisani, A; Rothwell, J; Jankovic, J; Vidailhet, M; (2018) Dystonia. In: UNSPECIFIED NATURE PUBLISHING GROUP

Balint, B; Vincent, A; Meinck, H-M; Irani, SR; Bhatia, KP; (2018) Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology. Brain , 141 (1) pp. 13-36. 10.1093/brain/awx189. Green open access
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Balint, B; Wiethoff, S; Martino, D; Del Gamba, C; Latorre, A; Ganos, C; Houlden, H; (2018) Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics. Movement Disorders Clinical Practice , 5 (3) pp. 317-320. 10.1002/mdc3.12615. Green open access
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Batla, A; De Pablo-Fernandez, E; Erro, R; Reich, M; Calandra-Buonaura, G; Barbosa, P; Balint, B; ... Bhatia, KP; + view all (2018) Young-Onset Multiple System Atrophy: Clinical and Pathological Features. Movement Disorders , 33 (7) pp. 1099-1107. 10.1002/mds.27450.

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.

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).

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. Green open access
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Chelban, V; Wiethoff, S; Fabian-Jessing, BK; Haridy, NA; Khan, A; Efthymiou, S; Becker, EBE; ... Houlden, H; + view all (2018) Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. Movement Disorders 10.1002/mds.27334. (In press). Green open access
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Chen, J-C; Macerollo, A; Sadnicka, A; Lu, M-K; Tsai, C-H; Korlipara, P; Bhatia, K; ... Edwards, MJ; + view all (2018) Cervical dystonia: Normal auditory mismatch negativity and abnormal somatosensory mismatch negativity. Clinical Neurophysiology , 129 (9) pp. 1947-1954. 10.1016/j.clinph.2018.05.028.

Coutelier, M; Hammer, MB; Stevanin, G; Monin, ML; Davoine, CS; Mochel, F; Labauge, P; ... Soong, BW; + view all (2018) Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes. JAMA Neurology , 75 (5) pp. 591-599. 10.1001/jamaneurol.2017.5121.

De Pablo Fernandez, E; Cerdán Santacruz, D; Warner, T; Holton, J; (2018) No evidence of iatrogenic human transmission in autopsy confirmed multiple system atrophy. [Letter]. Movement Disorders 10.1002/mds.27370. (In press).

De Pablo Fernandez, E; Courtney, R; Warner, T; Holton, J; (2018) A Histologic Study of the Circadian System in Parkinson Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy. JAMA Neurology 10.1001/jamaneurol.2018.0640.

Desikan, M; Scalco, RS; Manole, A; Gardiner, A; schapira, A; Lachmann, R; Houlden, H; ... Quinlivan, R; + view all (2018) GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2). Neuromuscular Disorders 10.1016/j.nmd.2018.01.002. (In press).

Ferrari, R; Kia, DA; Tomkins, JE; Hardy, J; Wood, NW; Lovering, RC; Lewis, PA; (2018) Stratification of candidate genes for Parkinson's disease using weighted protein-protein interaction network analysis. BMC Genomics , 19 , Article 452. 10.1186/s12864-018-4804-9. Green open access
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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. Green open access
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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. Green open access
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Iglesias, AI; Mishra, A; Vitart, V; Bykhovskaya, Y; Hoehn, R; Springelkamp, H; Cuellar-Partida, G; ... MacGregor, S; + view all (2018) Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nature Communications , 9 , Article 1864. 10.1038/s41467-018-03646-6. Green open access
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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 10.1002/ana.25308. (In press). Green open access
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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. Green open access
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Kaski, D; Haider, S; Male, A; Radunovich, A; Liu, F; Cordivari, C; Bhatia, KP; (2018) Adult Periodic Alternating Nystagmus Masked by Involuntary Head Movements. Frontiers in Neurology , 9 , Article 326. 10.3389/fneur.2018.00326. Green open access
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Kassavetis, P; Sadnicka, A; Saifee, TA; Pareés, I; Kojovic, M; Bhatia, KP; Rothwell, JC; (2018) Reappraising the role of motor surround inhibition in dystonia. Journal of the Neurological Sciences , 390 pp. 178-183. 10.1016/j.jns.2018.04.015.

Kia, DA; Noyce, AJ; White, J; Speed, D; Nicolas, A; IPDGC collaborators, .; Burgess, S; ... Wood, NW; + view all (2018) Mendelian randomization study shows no causal relationship between circulating urate levels and Parkinson's disease. Annals of Neurology 10.1002/ana.25294. (In press).

Kiely, AP; Miners, S; Courtney, R; Strand, C; Love, S; Holton, JL; (2018) Exploring the putative role of kallikrein-6, calpain-1 and cathepsin-D in the proteolytic degradation of α-synuclein in multiple system atrophy. Neuropathology and Applied Neurobiology 10.1111/nan.12512. (In press).

Kojović, M; Bhatia, KP; (2018) Bringing order to higher order motor disorders. Journal of Neurology 10.1007/s00415-018-8974-9. (In press).

Latorre, A; Rocchi, L; Berardelli, A; Rothwell, JC; Bhatia, KP; Cordivari, C; (2018) Reappraisal of cortical myoclonus: A retrospective study of clinical neurophysiology. Movement Disorders , 33 (2) pp. 339-341. 10.1002/mds.27234.

Latorre, A; Rocchi, L; Cordivari, C; Berardelli, A; Bhatia, KP; Rothwell, JC; (2018) Reply: “Reappraisal of cortical myoclonus: Electrophysiology is the gold standard”. Movement Disorders , 33 (7) p. 1191. 10.1002/mds.27440.

Latorre, A; Rocchi, L; Stamelou, M; Batla, A; Ciocca, M; Balint, B; Sidle, K; ... Bhatia, KP; + view all (2018) Tremor in motor neuron disease may be central rather than peripheral in origin. European Journal of Neurology 10.1111/ene.13743. (In press).

Lawton, M; Ben-Shlomo, Y; May, MT; Baig, F; Barber, TR; Klein, JC; Swallow, DMA; ... Hu, MTM; + view all (2018) Developing and validating Parkinson's disease subtypes and their motor and cognitive progression. Journal of Neurology, Neurosurgery and Psychiatry 10.1136/jnnp-2018-318337. (In press). Green open access
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Lis, P; Burel, S; Steger, M; Mann, M; Brown, F; Diez, F; Tonelli, F; ... Alessi, DR; + view all (2018) Development of phospho-specific Rab protein antibodies to monitor in vivo activity of the LRRK2 Parkinson's disease kinase. Biochemical Journal , 475 (1) pp. 1-22. 10.1042/BCJ20170802. Green open access
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Lynch, DS; Chelban, V; Vandrovcova, J; Pittman, A; Wood, NW; Houlden, H; (2018) GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy. Annals of Clinical and Translational Neurology 10.1002/acn3.522. (In press). Green open access
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Malek, N; Weil, RS; Bresner, C; Lawton, MA; Grosset, KA; Tan, M; Bajaj, N; ... PRoBaND clinical consortium, ; + view all (2018) Features of GBA-associated Parkinson's disease at presentation in the UK Tracking Parkinson's study. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2017-317348. (In press). Green open access
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Manzoni, C; Kia, DA; Vandrovcova, J; Hardy, J; Wood, NW; Lewis, PA; Ferrari, R; (2018) Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences. Briefings in Bioinformatics , 19 (2) pp. 286-302. 10.1093/bib/bbw114. Green open access
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Matthews, E; Neuwirth, C; Jaffer, F; Scalco, RS; Fialho, D; Parton, M; Raja Rayan, D; ... Hanna, MG; + view all (2018) Atypical periodic paralysis and myalgia: A novel RYR1 phenotype. Neurology 10.1212/WNL.0000000000004894. (In press). Green open access
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Niccolini, F; Wilson, H; Hirschbichler, S; Yousaf, T; Pagano, G; Whittington, A; Caminiti, SP; ... Alzheimer’s Disease Neuroimaging Initiative, ; + view all (2018) Disease-related patterns of in vivo pathology in Corticobasal syndrome. European Journal of Nuclear Medicine and Molecular Imaging 10.1007/s00259-018-4104-2. (In press). Green open access
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O'Connor, E; Vandrovcova, J; Bugiardini, E; Chelban, V; Manole, A; Davagnanam, I; Wiethoff, S; ... Wood, NW; + view all (2018) Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2017-317581. Green open access
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Pizza, F; Antelmi, E; Vandi, S; Meletti, S; Erro, R; Baumann, CR; Bhatia, KP; ... Plazzi, G; + view all (2018) The distinguishing motor features of cataplexy: a study from video-recorded attacks. Presented at: UNSPECIFIED.

Rispoli, V; Schreglmann, SR; Bhatia, KP; (2018) Neuroimaging advances in Parkinson's disease. Current Opinion in Neurology , 31 (4) pp. 415-424. 10.1097/WCO.0000000000000584.

Sadnicka, A; Stevenson, A; Bhatia, KP; Rothwell, JC; Edwards, MJ; Galea, JM; (2018) High motor variability in DYT1 dystonia is associated with impaired visuomotor adaptation. Scientific Reports , 8 , Article 3653. 10.1038/s41598-018-21545-0. Green open access
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Valente, EM; Bhatia, KP; (2018) Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key. [Editorial comment]. Cell , 172 (5) pp. 889-891. 10.1016/j.cell.2018.02.022.

Varley, JA; Webb, AJS; Balint, B; Fung, VSC; Sethi, KD; Tijssen, MAJ; Lynch, T; ... Irani, SR; + view all (2018) The Movement disorder associated with NMDAR antibody-encephalitis is complex and characteristic: an expert video-rating study. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2018-318584. (In press). Green open access
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Wagnon, JL; Mencacci, NE; Barker, BS; Wengert, ER; Bhatia, KP; Balint, B; Carecchio, M; ... Meisler, MH; + view all (2018) Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. Hum Mutat , 39 (7) pp. 965-969. 10.1002/humu.23547. Green open access
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Wiethoff, S; O'Connor, E; Haridy, NA; Nethisinghe, S; Wood, N; Giunti, P; Bettencourt, C; (2018) Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2017-317253. (In press). Green open access
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Woollacott, IOC; Bocchetta, M; Sudre, CH; Ridha, BH; Strand, C; Courtney, R; Ourselin, S; ... Rohrer, JD; + view all (2018) Pathological correlates of white matter hyperintensities in a case of progranulin mutation associated frontotemporal dementia. Neurocase 10.1080/13554794.2018.1506039. (In press). Green open access
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2017

Antelmi, E; Erro, R; Rocchi, L; Liguori, R; Tinazzi, M; Di Stasio, F; Berardelli, A; ... Bhatia, KP; + view all (2017) Neurophysiological correlates of abnormal somatosensory temporal discrimination in dystonia. Movement Disorders , 32 (1) pp. 141-148. 10.1002/mds.26804.

Arber, C; Angelova, PR; Wiethoff, S; Tsuchiya, Y; Mazzacuva, F; Preza, E; Bhatia, KP; ... Wray, S; + view all (2017) iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease. PLoS One , 12 (9) , Article e0184104. 10.1371/journal.pone.0184104. Green open access
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Balint, B; Charlesworth, G; Stamelou, M; Carr, L; Wood, NW; Bhatia, K; (2017) NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy. Presented at: 3rd Congress of the European-Academy-of-Neurology, Amsterdam, NETHERLANDS.

Bhatia, KP; Bain, P; Bajaj, N; Elble, RJ; Hallett, M; Louis, ED; Raethjen, J; ... Deuschl, G; + view all (2017) Consensus Statement on the Classification of Tremors. From the Task Force on Tremor of the International Parkinson and Movement Disorder Society. Movement Disorders , 33 (1) pp. 75-87. 10.1002/mds.27121.

Bhatia, KP; Stamelou, M; (2017) Chapter Forty-Six - Nonmotor Features in Atypical Parkinsonism. International Review of Neurobiology , 134 pp. 1285-1301. 10.1016/bs.irn.2017.06.001.

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. Green open access
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Bugiardini, E; Poole, OV; Manole, A; Pittman, AM; Horga, A; Hargreaves, I; Woodward, CE; ... Pitceathly, RDS; + view all (2017) Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. Neurology Genetics , 3 (3) , Article e149. 10.1212/NXG.0000000000000149. Green open access
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Bugiardini, E; Rossor, AM; Lynch, DS; Swash, M; Pittman, AM; Blake, JC; Hanna, MG; ... Matthews, E; + view all (2017) Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy. Neurology Genetics , 3 (4) , Article e168. 10.1212/NXG.0000000000000168. Green open access
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Carecchio, M; Mencacci, NE; Iodice, A; Pons, R; Panteghini, C; Zorzi, G; Zibordi, F; ... Nardocci, N; + view all (2017) ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. PARKINSONISM & RELATED DISORDERS , 41 pp. 37-43. 10.1016/j.parkreldis.2017.05.004. Green open access
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Chelban, V; Manole, A; Pihlstrøm, L; Schottlaender, L; Efthymiou, S; OConnor, E; Meissner, WG; ... Houlden, H; + view all (2017) Analysis of the prion protein gene in multiple system atrophy. Neurobiology of Aging , 49 216.e15-216.e18. 10.1016/j.neurobiolaging.2016.09.021. Green open access
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Chelban, V; Patel, N; Vandrovcova, J; Zanetti, MN; Lynch, DS; Ryten, M; Botia, JA; ... Houlden, H; + view all (2017) Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. American Journal of Human Genetics , 100 (6) pp. 969-977. 10.1016/j.ajhg.2017.05.009. Green open access
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Chelban, V; Tucci, A; Lynch, DS; Polke, JM; Santos, L; Jonvik, H; Groppa, S; ... Houlden, H; + view all (2017) Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. Journal of Neurology Neurosurgery and Psychiatry , 88 (8) 10.1136/jnnp-2017-315796. Green open access
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Contarino, MF; Van den Dool, J; Balash, Y; Bhatia, K; Giladi, N; Koelman, JH; Lokkegaard, A; ... Tijssen, MAJ; + view all (2017) Clinical Practice: evidence-Based Recommendations for the Treatment of Cervical Dystonia with Botulinum Toxin. [Review]. Frontiers in Neurology , 8 (35) 10.3389/fneur.2017.00035. Green open access
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De Pablo-Fernandez, E; Courtney, R; Holton, JL; Warner, TT; (2017) Hypothalamic α-synuclein and its relation to weight loss and autonomic symptoms in Parkinson's disease. Movement Disorders , 32 (2) pp. 296-298. 10.1002/mds.26868.

De Pablo-Fernandez, E; Tur, C; Revesz, T; Lees, AJ; Holton, JL; Warner, TT; (2017) Association of Autonomic Dysfunction With Disease Progression and Survival in Parkinson Disease. JAMA Neurology , 74 (8) pp. 970-976. 10.1001/jamaneurol.2017.1125.

Espay, AJ; Lang, AE; Erro, R; Merola, A; Fasano, A; Berardelli, A; Bhatia, KP; (2017) Essential pitfalls in "essential" tremor. Movement Disorders , 32 (3) pp. 325-331. 10.1002/mds.26919.

Faulkner, P; Mancinelli, F; Lockwood, PL; Matarin, M; Dolan, RJ; Wood, NW; Dayan, P; (2017) Peripheral Serotonin 1B Receptor Transcription Predicts the Effect of Acute Tryptophan Depletion on Risky Decision-Making. Int J Neuropsychopharmacol , 20 (1) pp. 58-66. 10.1093/ijnp/pyw075. Green open access
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Ganos, C; Ferrè, ER; Marotta, A; Kassavetis, P; Rothwell, J; Bhatia, KP; Haggard, P; (2017) Cortical inhibitory function in cervical dystonia. Clinical Neurophysiology 10.1016/j.clinph.2017.11.020. (In press).

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. Green open access
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Hirschbichler, ST; Erro, R; Ganos, C; Stamelou, M; Batla, A; Balint, B; Bhatia, KP; (2017) "Atypical" atypical parkinsonism: Critical appraisal of a cohort. Parkinsonism & Related Disorders , 37 pp. 36-42. 10.1016/j.parkreldis.2016.12.006. Green open access
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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.

Jansen, IE; Gibbs, JR; Nalls, MA; Price, TR; Lubbe, S; van Rooij, J; Uitterlinden, AG; ... International Parkinson's Disease Genomics Consortium, .; + view all (2017) Establishing the role of rare coding variants in known Parkinson's disease risk loci. Neurobiology of Aging , 59 220.e11-220.e18. 10.1016/j.neurobiolaging.2017.07.009. Green open access
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Jansen, IE; Ye, H; Heetveld, S; Lechler, MC; Michels, H; Seinstra, RI; Lubbe, SJ; ... Heutink, P; + view all (2017) Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Genome Biology , 18 , Article 22. 10.1186/s13059-017-1147-9. Green open access
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Jinnah, HA; Albanese, A; Bhatia, KP; Cardoso, F; Da Prat, G; de Koning, TJ; Espay, AJ; ... Gatto, EM; + view all (2017) Treatable Inherited Rare Movement Disorders. Movement Disorders , 33 (1) pp. 21-35. 10.1002/mds.27140.

Kagi, G; Ruge, D; Brugger, F; Katschnig, P; Sauter, R; Fiorio, M; Tinazzi, M; ... Bhatia, KP; + view all (2017) Endophenotyping in idiopathic adult onset cervical dystonia. Clinical Neurophysiology , 128 (7) pp. 1142-1147. 10.1016/j.clinph.2017.04.007. Green open access
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Kojovic, M; Kassavetis, P; Pareés, I; Georgiev, D; Rocchi, L; Balint, B; Foltynie, T; ... Bhatia, K; + view all (2017) Pathophysiological heterogeneity in Parkinson's disease: Neurophysiological insights from LRRK2 mutations. [Letter]. Movement Disorders , 32 (9) pp. 1333-1335. 10.1002/mds.27091.

Kun-Rodrigues, C; Ross, OA; Orme, T; Shepherd, C; Parkkinen, L; Darwent, L; Hernandez, D; ... Bras, J; + view all (2017) Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiology of Aging , 49 214.e13-214.e15. 10.1016/j.neurobiolaging.2016.08.023. Green open access
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Ling, H; Morris, HR; Neal, JW; Lees, A; Hardy, J; Holton, JL; Revesz, T; (2017) Mixed pathologies including chronic traumatic encephalopathy account for dementia in retired Association football (soccer) players. Acta Neuropathologica , 133 (3) pp. 337-352. 10.1007/s00401-017-1680-3. Green open access
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Lynch, DS; Loh, SHY; Harley, J; Noyce, AJ; Martins, LM; Wood, NW; Houlden, H; (2017) Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations. Neurology Genetics , 3 (5) , Article e188. 10.1212/NXG.0000000000000188. Green open access
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Malek, N; Lawton, MA; Grosset, KA; Bajaj, N; Barker, RA; Ben-Shlomo, Y; Burn, DJ; ... PRoBaND Clinical Consortium, .; + view all (2017) Utility of the new Movement Disorder Society clinical diagnostic criteria for Parkinson's disease applied retrospectively in a large cohort study of recent onset cases. Parkinsonism & Related Disorders , 40 pp. 40-46. 10.1016/j.parkreldis.2017.04.006. Green open access
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Massey, LA; Miranda, MA; Al-Helli, O; Parkes, HG; Thornton, JS; So, PW; White, MJ; ... Yousry, TA; + view all (2017) 9.4 T MR microscopy of the substantia nigra with pathological validation in controls and disease. NeuroImage: Clinical , 13 pp. 154-163. 10.1016/j.nicl.2016.11.015. Green open access
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McLaughlin, RL; Schijven, D; Van Rheenen, W; Van Eijk, KR; O'Brien, M; Kahn, RS; Ophoff, RA; ... Cichon, S; + view all (2017) Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications , 8 , Article 14774. 10.1038/ncomms14774. Green open access
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Meyer, E; Carss, KJ; Rankin, J; Nichols, JM; Grozeva, D; Joseph, AP; Mencacci, NE; ... Kurian, MA; + view all (2017) Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics , 49 (2) pp. 223-237. 10.1038/ng.3740. Green open access
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Mok, T; Jaunmuktane, Z; Joiner, S; Campbell, T; Morgan, C; Wakerley, B; Golestani, F; ... Collinge, J; + view all (2017) Variant Creutzfeldt-Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129. The New England Journal of Medicine , 376 (3) pp. 292-294. 10.1056/NEJMc1610003. Green open access
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Niccolini, F; Mencacci, NE; Rabiner, E; Salpietro, V; Pagano, G; Balint, B; Houlden, H; ... Politis, M; + view all (2017) Loss of PDE10A expression in patients with PDE10A and ADYC5 mutations. Presented at: 3rd Congress of the European-Academy-of-Neurology, Amsterdam, NETHERLANDS.

Noyce, AJ; Kia, DA; Hemani, G; Nicolas, A; Price, TR; De Pablo-Fernandez, E; Haycock, PC; ... Wood, NW; + view all (2017) Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study. PLoS Medicine , 14 (6) , Article e1002314. 10.1371/journal.pmed.1002314. Green open access
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Noyce, AJ; R'Bibo, L; Peress, L; Bestwick, JP; Adams-Carr, KL; Mencacci, NE; Hawkes, CH; ... Schrag, A; + view all (2017) PREDICT-PD: An online approach to prospectively identify risk indicators of Parkinson's disease. Movement Disorders , 32 (2) pp. 219-226. 10.1002/mds.26898. Green open access
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Pauls, KAM; Krauss, JK; Kämpfer, CE; Kühn, AA; Schrader, C; Südmeyer, M; Allert, N; ... Timmermann, L; + view all (2017) Causes of failure of pallidal deep brain stimulation in cases with pre-operative diagnosis of isolated dystonia. Parkinsonism & Related Disorders 10.1016/j.parkreldis.2017.06.023. (In press). Green open access
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Respondek, G; Kurz, C; Arzberger, T; Compta, Y; Englund, E; Ferguson, LW; Gelpi, E; ... Hoeglinger, GU; + view all (2017) Which Ante Mortem Clinical Features Predict Progressive Supranuclear Palsy Pathology? Movement Disorders , 32 (7) pp. 995-1005. 10.1002/mds.27034.

Rocchi, L; Erro, R; Antelmi, E; Berardelli, A; Tinazzi, M; Liguori, R; Bhatia, K; (2017) High frequency somatosensory stimulation increases sensori-motor inhibition and leads to perceptual improvement in healthy subjects. Clinical Neurophysiology , 128 (6) pp. 1015-1025. 10.1016/j.clinph.2017.03.046. Green open access
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Sadnicka, A; Daum, C; Cordivari, C; Bhatia, KP; Rothwell, JC; Manohar, S; Edwards, MJ; (2017) Mind the gap: temporal discrimination and dystonia. European Journal of Neurology , 24 (6) pp. 796-806. 10.1111/ene.13293. Green open access
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Sarell, CJ; Quarterman, E; Yip, DC-M; Terry, C; Nicoll, AJ; Wadsworth, JDF; Farrow, MA; ... Collinge, J; + view all (2017) Soluble Aβ aggregates can inhibit prion propagation. Open Biology , 7 (11) , Article 170158. 10.1098/rsob.170158. Green open access
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Schreglmann, SR; Bauer, R; Hagele-Link, S; Bhatia, KP; Natchev, P; Wegener, N; Lebeda, A; ... Kagi, G; + view all (2017) Unilateral cerebellothalamic tract ablation in essential tremor by MRI-guided focused ultrasound. Neurology , 88 (14) pp. 1329-1333. 10.1212/WNL.0000000000003795. Green open access
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Schreglmann, SR; Bhatia, KP; Stamelou, M; (2017) Chapter Five - Advances in the Clinical Differential Diagnosis of Parkinson's Disease. International Review of Neurobiology , 132 pp. 79-127. 10.1016/bs.irn.2017.01.007.

Schreglmann, SR; Krauss, JK; Chang, JW; Bhatia, KP; Kagi, G; (2017) Functional lesional neurosurgery for tremor - a protocol for a systematic review and meta-analysis. BMJ OPEN , 7 (5) 10.1136/bmjopen-2016-015409. Green open access
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Schreglmann, SR; Riederer, F; Galovic, M; Ganos, C; Kägi, G; Waldvogel, D; Jaunmuktane, Z; ... Jung, HH; + view all (2017) Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum. Movement Disorders 10.1002/mds.27174.

Schutz, PW; Scalco, RS; Barresi, R; Houlden, H; Parton, M; Holton, JL; (2017) Calpainopathy with macrophage-rich, regional inflammatory infiltrates. Neuromuscular Disorders , 27 (8) pp. 738-741. 10.1016/j.nmd.2017.04.012. Green open access
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Skorvanek, M; Bhatia, KP; (2017) The Skin and Parkinson's Disease: Review of Clinical, Diagnostic, and Therapeutic Issues. Movement Disorders , 32 (1) pp. 21-31. 10.1002/mdc3.12425.

Wadsworth, JDF; Adamson, G; Joiner, S; Brock, L; Powell, C; Linehan, JM; Beck, JA; ... Collinge, J; + view all (2017) Methods for Molecular Diagnosis of Human Prion Disease. Methods in Molecular Biology: Prions , 1658 pp. 311-346. 10.1007/978-1-4939-7244-9_22. Green open access
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Walsh, RR; Krismer, F; Galpern, WR; Wenning, GK; Low, PA; Halliday, G; Koroshetz, WJ; ... Zhang, J; + view all (2017) Recommendations of the Global Multiple System Atrophy Research Roadmap Meeting. Neurology , 90 (2) pp. 74-82. 10.1212/WNL.0000000000004798.

Witoelar, A; Jansen, IE; Wang, Y; Desikan, RS; Gibbs, JR; Blauwendraat, C; Thompson, WK; ... International Parkinson’s Disease Genomics Consortium (IPDGC), N, .; + view all (2017) Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. JAMA Neurology , 74 (7) pp. 780-792. 10.1001/jamaneurol.2017.0469. Green open access
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Zhao, Y; Perera, G; Takahashi-Fujigasaki, J; Mash, DC; Paul, J; Vonsattel, G; Uchino, A; ... Halliday, GM; + view all (2017) Reduced LRRK2 in association with retromer dysfunction in post-mortem brain tissue from LRRK2 mutation carriers. Brain 10.1093/brain/awx344. (In press). Green open access
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di Biase, L; Brittain, J-S; Shah, SA; Pedrosa, DJ; Cagnan, H; Mathy, A; Chen, CC; ... Brown, P; + view all (2017) Tremor stability index: a new tool for differential diagnosis in tremor syndromes. Brain , 140 (7) pp. 1977-1986. 10.1093/brain/awx104. Green open access
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2016

Ahmed, M; Machado, PM; Miller, A; Spicer, C; Herbelin, L; He, J; Noel, J; ... Greensmith, L; + view all (2016) Targeting protein homeostasis in sporadic inclusion body myositis. Science Translational Medicine , 8 (331) , Article 331ra41. 10.1126/scitranslmed.aad4583. Green open access
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Albanese, A; Bhatia, K; DeLong, MR; Fahn, S; Fung, VSC; Hallett, M; Jankovic, J; ... Teller, JK; + view all (2016) "Complex" dystonia is not a category in the new 2013 consensus classification. Movement Disorders , 31 (11) pp. 1758-1759. 10.1002/mds.26764.

Angelova, PR; Ludtmann, MH; Horrocks, MH; Negoda, A; Cremades, N; Klenerman, D; Dobson, CM; ... Abramov, AY; + view all (2016) Ca2+ is a key factor in α-synuclein-induced neurotoxicity. Journal of Cell Science , 129 (9) pp. 1792-1801. 10.1242/jcs.180737. Green open access
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Antelmi, E; Di Stasio, F; Rocchi, L; Erro, R; Liguori, R; Ganos, C; Brugger, F; ... Bhatia, KP; + view all (2016) Impaired eye blink classical conditioning distinguishes dystonic patients with and without tremor. Parkinsonism & Related Disorders , 31 pp. 23-27. 10.1016/j.parkreldis.2016.06.011. Green open access
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Antelmi, E; Plazzi, G; Erro, R; Tinuper, P; Balint, B; Liguori, R; Bhatia, KP; (2016) Intermittent head drops: the differential spectrum. Journal of Neurology, Neurosurgery, and Psychiatry , 87 (4) pp. 414-419. 10.1136/jnnp-2015-310864.

Balint, B; Bhatia, KP; (2016) Stiff person syndrome and other immune-mediated movement disorders - new insights. Current Opinion in Neurology , 29 (4) pp. 496-506. 10.1097/WCO.0000000000000351. Green open access
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Balint, B; Erro, R; Brugger, F; Jha, A; Batla, A; Ganos, C; Antelmi, E; (2016) Conjugal Parkinson's disease - Real or chance? [Letter]. Parkinsonism & Related Disorders , 33 pp. 146-148. 10.1016/j.parkreldis.2016.10.003. Green open access
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Batla, A; Tai, XY; Schottlaender, L; Erro, R; Balint, B; Bhatia, KP; (2016) Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes. Parkinsonism & Related Disorders , 37 pp. 1-10. 10.1016/j.parkreldis.2016.12.024. Green open access
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Bettencourt, C; Hensman-Moss, D; Flower, M; Wiethoff, S; Brice, A; Goizet, C; Stevanin, G; ... Jones, L; + view all (2016) DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases. Annals of Neurology , 79 (6) pp. 983-990. 10.1002/ana.24656. Green open access
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Bhatia, K; Cordivari, C; Edwards, M; Foltynie, T; Hariz, M; Korlipara, P; Limousin, P; ... Warner, T; + view all (2016) Movement Disorders. In: Neurology: A Queen Square Textbook: Second Edition. (pp. 187-220).

Brady, S; Healy, EG; Gang, Q; Parton, M; Quinlivan, R; Jacob, S; Curtis, E; ... Holton, JL; + view all (2016) Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures. Journal of Neuropathology and Experimental Neurology , 75 (12) pp. 1171-1178. 10.1093/jnen/nlw096. Green open access
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Brugger, F; Bhatia, KP; Besag, FMC; (2016) Valproate-Associated Parkinsonism: A Critical Review of the Literature. CNS Drugs , 30 (6) pp. 527-540. 10.1007/s40263-016-0341-8. Green open access
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Celardo, I; Costa, AC; Lehmann, S; Jones, C; Wood, N; Mencacci, NE; Mallucci, GR; ... Martins, LM; + view all (2016) Mitofusin-mediated ER stress triggers neurodegeneration in pink1/parkin models of Parkinson's disease. Cell Death and Disease , 7 , Article e2271. 10.1038/cddis.2016.173. Green open access
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Charlesworth, G; Balint, B; Mencacci, NE; Carr, L; Wood, NW; Bhatia, KP; (2016) SLC25A46 Mutations Underlie Progressive Myoclonic Ataxia With Optic Atrophy and Neuropathy. Movement Disorders , 31 (8) pp. 1249-1251. 10.1002/mds.26716.

Deakin, CT; Yasin, SA; Simou, S; Arnold, KA; Tansley, SL; Betteridge, ZE; McHugh, NJ; ... UK Juvenile Dermatomyositis Research Group, .; + view all (2016) Muscle biopsy in combination with myositis-specific autoantibodies aids prediction of outcomes in juvenile dermatomyositis. Arthritis & Rheumatology , 68 (11) pp. 2806-2816. 10.1002/art.39753. Green open access
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Deas, E; Cremades, N; Angelova, PR; Ludtmann, MHR; Yao, Z; Chen, S; Horrocks, MH; ... Abramov, AY; + view all (2016) Alpha-Synuclein Oligomers Interact with Metal Ions to Induce Oxidative Stress and Neuronal Death in Parkinson's Disease. Antioxidants & Redox Signaling , 24 (7) pp. 376-391. 10.1089/ars.2015.6343. Green open access
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Doherty, KM; De Pablo-Fernandez, E; Houlden, H; Polke, JM; Lees, AJ; Warner, TT; Holton, JL; (2016) MSA-C or SCA 17? A clinicopathological case update. Movement Disorders , 31 (10) pp. 1582-1584. 10.1002/mds.26741.

Dzamko, N; Gysbers, AM; Bandopadhyay, R; Bolliger, MF; Uchino, A; Zhao, Y; Takao, M; ... Halliday, GM; + view all (2016) LRRK2 Levels and Phosphorylation in Parkinson's Disease Brain and Cases With Restricted Lewy Bodies. Movement Disorders , 32 (3) pp. 423-432. 10.1002/mds.26892.

Erro, R; Hirschbichler, ST; Ricciardi, L; Ryterska, A; Antelmi, E; Ganos, C; Cordivari, C; ... Bhatia, KP; + view all (2016) Mental rotation and working memory in musicians' dystonia. Brain and Cognition , 109 pp. 124-129. 10.1016/j.bandc.2016.09.008. Green open access
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Gang, Q; Bettencourt, C; Machado, PM; Brady, S; Holton, JL; Pittman, AM; Hughes, D; ... Muscle Study Group and The International IBM Genetics Consortium, .; + view all (2016) Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Neurobiology of Aging , 47 218.e1-218.e9. 10.1016/j.neurobiolaging.2016.07.024. Green open access
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Gelpi, E; Höftberger, R; Graus, F; Ling, H; Holton, JL; Dawson, T; Popovic, M; ... Kovacs, GG; + view all (2016) Neuropathological criteria of anti-IgLON5-related tauopathy. Acta Neuropathologica , 132 (4) pp. 531-543. 10.1007/s00401-016-1591-8. Green open access
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Güttsches, AK; Brady, S; Krause, K; Maerkens, A; Uszkoreit, J; Eisenacher, M; Schreiner, A; ... Kley, RA; + view all (2016) Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis. Annals of Neurology 10.1002/ana.24847. (In press). Green open access
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Hall, CE; (2016) Using VCP mutant hiPSC-derived motor neurons and glia to capture early molecular pathogenic events in MND. Doctoral thesis , UCL (University College London). Green open access
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Horrocks, MH; Lee, SF; Gandhi, S; Magdalinou, NK; Chen, SW; Devine, MJ; Tosatto, L; ... Klenerman, D; + view all (2016) Single-Molecule Imaging of Individual Amyloid Protein Aggregates in Human Biofluids. ACS Chemical Neuroscience , 7 (3) pp. 399-406. 10.1021/acschemneuro.5b00324. Green open access
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Kara, E; Tucci, A; Manzoni, C; Lynch, DS; Elpidorou, M; Bettencourt, C; Chelban, V; ... Houlden, H; + view all (2016) Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain , 139 (7) pp. 1904-1918. 10.1093/brain/aww111. Green open access
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Kinghorn, KJ; Castillo-Quan, JI; Li, L; Bhatia, KP; Abramov, AY; Hardy, J; Partridge, L; (2016) Reply: Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. Brain , 139 (12) , Article e68. 10.1093/brain/aww185. Green open access
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Lawton, M; Hu, MT; Baig, F; Ruffmann, C; Barron, E; Swallow, DM; Malek, N; ... Ben-Shlomo, Y; + view all (2016) Equating scores of the University of Pennsylvania Smell Identification Test and Sniffin' Sticks test in patients with Parkinson's disease. Parkinsonism & Related Disorders , 33 pp. 96-101. 10.1016/j.parkreldis.2016.09.023. Green open access
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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. Green open access
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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. Green open access
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Lynch, DS; Wood, NW; Houlden, H; (2016) Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A. Neurology Genetics , 2 (5) , Article e101. 10.1212/NXG.0000000000000101. Green open access
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Malek, N; Lawton, MA; Swallow, DMA; Grosset, KA; Marrinan, SL; Bajaj, N; Barker, RA; ... Grosset, DG; + view all (2016) Vascular disease and vascular risk factors in relation to motor features and cognition in early Parkinson's disease. Movement Disorders , 31 (10) pp. 1518-1526. 10.1002/mds.26698. Green open access
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Mead, S; Burnell, M; Lowe, J; Thompson, A; Lukic, A; Porter, MC; Carswell, C; ... Collinge, J; + view all (2016) Clinical Trial Simulations Based on Genetic Stratification and the Natural History of a Functional Outcome Measure in Creutzfeldt-Jakob Disease. JAMA Neurology , 73 (4) pp. 447-455. 10.1001/jamaneurol.2015.4885. Green open access
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Mencacci, NE; (2016) Dissecting the Genetic Basis of Parkinson Disease, Dystonia and Chorea. Doctoral thesis , UCL (University College London). Green open access
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Mencacci, NE; Kamsteeg, EJ; Nakashima, K; R'Bibo, L; Lynch, DS; Balint, B; Willemsen, MA; ... Bhatia, KP; + view all (2016) De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. The American Journal of Human Genetics , 98 (4) pp. 763-771. 10.1016/j.ajhg.2016.02.015. Green open access
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Mok, KY; Sheerin, U; Simon-Sanchez, 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 GWAS data. Presented at: 20th International Congress of Parkinson's Disease and Movement Disorders, Berlin, GERMANY.

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. Green open access
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Morgan, JC; Kurek, JA; Davis, J; Sethi, KD; Mencacci, NE; Erro, R; Bhatia, KP; (2016) ADCY5 mutations are another cause of benign hereditary chorea. Neurology , 86 (10) pp. 978-979. 10.1212/WNL.0000000000002479.

Paudel, R; Li, A; Hardy, J; Bhatia, KP; Houlden, H; Holton, J; (2016) DYT6 Dystonia: A Neuropathological Study. Neurodegenerative Diseases , 16 (3-4) pp. 273-278. 10.1159/000440863. Green open access
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Prins, BP; Abbasi, A; Wong, A; Vaez, A; Nolte, I; Franceschini, N; Stuart, PE; ... Alizadeh, BZ; + view all (2016) Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study. PLoS Medicine , 13 (6) , Article e1001976. 10.1371/journal.pmed.1001976. Green open access
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Properzi, F; Badhan, A; Klier, S; Schmidt, C; Klohn, PC; Wadsworth, JDF; Clarke, AR; ... Collinge, J; + view all (2016) Physical, chemical and kinetic factors affecting prion infectivity. Prion , 10 (3) pp. 251-261. 10.1080/19336896.2016.1181250. Green open access
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Rajakulendran, S; Pitceathly, RD; Taanman, JW; Costello, H; Sweeney, MG; Woodward, CE; Jaunmuktane, Z; ... Rahman, S; + view all (2016) A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. PLoS One , 11 (1) , Article e0145500. 10.1371/journal.pone.0145500. Green open access
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Rebelo, AP; Abrams, AJ; Cottenie, E; Horga, A; Gonzalez, M; Bis, DM; Sanchez-Mejias, A; ... Zuchner, S; + view all (2016) Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. The American Journal of Human Genetics , 98 (4) pp. 597-614. 10.1016/j.ajhg.2016.02.022. Green open access
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Rodríguez Cruz, PM; Belaya, K; Basiri, K; Sedghi, M; Farrugia, ME; Holton, JL; Liu, WW; ... Beeson, D; + view all (2016) Clinical features of the myasthenic syndrome arising from mutations in GMPPB. Journal of Neurology, Neurosurgery & Psychiatry , 87 (8) pp. 802-809. 10.1136/jnnp-2016-313163. Green open access
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Ryan, NS; Nicholas, JM; Weston, PSJ; Liang, Y; Lashley, T; Guerreiro, R; Adamson, G; ... Fox, NC; + view all (2016) Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. LANCET NEUROLOGY , 15 (13) pp. 1326-1335. 10.1016/S1474-4422(16)30193-4. Green open access
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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. Green open access
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Scalco, RS; Gardiner, AR; Pitceathly, RDS; Hilton-Jones, D; Schapira, AH; Turner, C; Parton, M; ... Quinlivan, R; + view all (2016) CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies. Neuromuscular Disorders , 26 (8) pp. 504-510. 10.1016/j.nmd.2016.05.006. Green open access
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Schottlaender, LV; Bettencourt, C; Kiely, AP; Chalasani, A; Neergheen, V; Holton, JL; Hargreaves, I; (2016) Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients. PLoS One , 11 (2) , Article e0149557. 10.1371/journal.pone.0149557. Green open access
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Schwingenschuh, P; Saifee, TA; Katschnig-Winter, P; Macerollo, A; Koegl-Wallner, M; Culea, V; Ghadery, C; ... Edwards, MJ; + view all (2016) Validation of "laboratory-supported" criteria for functional (psychogenic) tremor. Movement Disorders , 31 (4) pp. 555-562. 10.1002/mds.26525.

Swallow, DM; Lawton, MA; Grosset, KA; Malek, N; Klein, J; Baig, F; Ruffmann, C; ... PRoBaND Clinical Consortium, *; + view all (2016) Statins are underused in recent-onset Parkinson's disease with increased vascular risk: findings from the UK Tracking Parkinson's and Oxford Parkinson's Disease Centre (OPDC) discovery cohorts. Journal of Neurology, Neurosurgery and Psychiatry , 87 pp. 1183-1190. 10.1136/jnnp-2016-313642. Green open access
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Swallow, DMA; Malek, N; Grosset, KA; Lawton, MA; Bajaj, NP; Barker, RA; Ben-Shlomo, Y; ... Grosset, DG; + view all (2016) EFFECTS OF VASCULAR COMORBIDITY IN PARKINSON'S DISEASE. Presented at: Annual Meeting of the Association-of-British-Neurologists (ABN), Brighton, ENGLAND.

Terry, C; Wenborn, A; Gros, N; Sells, J; Joiner, S; Hosszu, LL; Tattum, MH; ... Wadsworth, JD; + view all (2016) Ex vivo mammalian prions are formed of paired double helical prion protein fibrils. Open Biology , 6 (5) 10.1098/rsob.160035. Green open access
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Valadas, A; Contarino, MF; Albanese, A; Bhatia, KP; Falup-Pecurariu, C; Forsgren, L; Friedman, A; ... Tijssen, MA; + view all (2016) Management of dystonia in Europe: a survey of the European network for the study of the dystonia syndromes. European Journal of Neurology , 23 (4) pp. 772-779. 10.1111/ene.12940.

Wiethoff, S; Hersheson, J; Bettencourt, C; Wood, NW; Houlden, H; (2016) Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations. Journal of Neurology , 263 (8) pp. 1503-1510. 10.1007/s00415-016-8148-6. Green open access
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van Rheenen, W; Shatunov, A; Dekker, AM; McLaughlin, RL; Diekstra, FP; Pulit, SL; van der Spek, RAA; ... Veldink, JH; + view all (2016) Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nature Genetics , 48 (9) pp. 1043-1048. 10.1038/ng.3622. Green open access
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2015

Charlesworth, G; Angelova, PR; Bartolomé-Robledo, F; Ryten, M; Trabzuni, D; Stamelou, M; Abramov, AY; ... Wood, NW; + view all (2015) Mutations in HPCA cause autosomal-recessive primary isolated dystonia. American Journal of Human Genetics , 96 (4) pp. 657-665. 10.1016/j.ajhg.2015.02.007. Green open access
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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. Green open access
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Gami, P; Murray, C; Schottlaender, L; Bettencourt, C; De Pablo Fernandez, E; Mudanohwo, E; Mizielinska, S; ... Lashley, T; + view all (2015) A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease. Acta Neuropathologica , 130 (4) pp. 599-601. 10.1007/s00401-015-1473-5. Green open access
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Gang, Q; Bettencourt, C; Machado, PM; Fox, Z; Brady, S; Healy, E; Parton, M; ... Muscle Study Group and the International IBM Genetics Consortium(#), ,; + view all (2015) The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. Neurobiol Aging , 36 (4) 1766.e1 - 1766.e3. 10.1016/j.neurobiolaging.2014.12.039. Green open access
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Gardiner, AR; Jaffer, F; Dale, RC; Labrum, R; Erro, R; Meyer, E; Xiromerisiou, G; ... Houlden, H; + view all (2015) The clinical and genetic heterogeneity of paroxysmal dyskinesias. Brain , 138 (Pt 12) pp. 3567-3580. 10.1093/brain/awv310. Green open access
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Kun-Rodrigues, C; Ganos, C; Guerreiro, R; Schneider, SA; Schulte, C; Lesage, S; Darwent, L; ... Bras, J; + view all (2015) A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease. Human Molecula Genetics , 24 (23) pp. 6711-6720. 10.1093/hmg/ddv376. Green open access
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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. Green open access
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Macerollo, A; Batla, A; Kassavetis, P; Parees, I; Bhatia, KP; Edwards, MJ; (2015) Using reaction time and co-contraction to differentiate acquired (secondary) from functional 'fixed' dystonia. Journal of Neurology, Neurosurgery and Psychiatry , 86 (8) pp. 933-934. 10.1136/jnnp-2014-309040. Green open access
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McColgan, P; Viegas, S; Gandhi, S; Bull, K; Tudor, R; Sheikh, F; Pinney, J; ... Reilly, MM; + view all (2015) Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient. J Neurol , 262 (1) 228 - 234. 10.1007/s00415-014-7594-2. Green open access
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Mencacci, NE; Erro, R; Wiethoff, S; Hersheson, J; Ryten, M; Balint, B; Ganos, C; ... Bhatia, KP; + view all (2015) ADCY5 mutations are another cause of benign hereditary chorea. Neurology , 85 (1) pp. 80-88. 10.1212/WNL.0000000000001720. Green open access
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Mencacci, NE; Pittman, AM; Isaias, IU; Hardy, J; Klebe, S; Bhatia, KP; Wood, NW; (2015) Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. [Review]. Brain , 138 (5) e352-e352. 10.1093/brain/awu309. Green open access
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Mencacci, NE; R'bibo, L; Bandres-Ciga, S; Carecchio, M; Zorzi, G; Nardocci, N; Garavaglia, B; ... Wood, NW; + view all (2015) The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. Human Molecular Genetics , 24 (18) pp. 5326-5329. 10.1093/hmg/ddv255. Green open access
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Mencacci, NE; Rubio-Agusti, I; Zdebik, A; Asmus, F; Ludtmann, MH; Ryten, M; Plagnol, V; ... Wood, NW; + view all (2015) A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet , 96 (6) pp. 938-947. 10.1016/j.ajhg.2015.04.008. Green open access
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Partridge, L; Kinghorn, K; Castillo, K; Li, L; Bartolome, F; Angelova, P; Pope, S; ... Abramov, A; + view all (2015) Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction. Brain , 138 (7) pp. 1801-1816. 10.1093/brain/awv132. Green open access
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Rudge, P; Jaunmuktane, Z; Adlard, P; Bjurstrom, N; Caine, D; Lowe, J; Norsworthy, P; ... Collinge, J; + view all (2015) Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years. Brain , 138 (Pt 11) pp. 3386-3399. 10.1093/brain/awv235. Green open access
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Scalco, RS; Gardiner, AR; Pitceathly, RD; Zanoteli, E; Becker, J; Holton, JL; Houlden, H; ... Quinlivan, R; + view all (2015) Rhabdomyolysis: a genetic perspective. Orphanet Journal of Rare Diseases , 10 , Article 51. 10.1186/s13023-015-0264-3. Green open access
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Schmidt, C; Fizet, J; Properzi, F; Batchelor, M; Sandberg, MK; Edgeworth, JA; Afran, L; ... Collinge, J; + view all (2015) A systematic investigation of production of synthetic prions from recombinant prion protein. Open Biology , 5 (12) , Article 150165. 10.1098/rsob.150165. Green open access
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Schottlaender, LV; Polke, JM; Ling, H; MacDoanld, ND; Tucci, A; Nanji, T; Pittman, A; ... Houlden, H; + view all (2015) The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiol Aging , 36 (2) 1221.e1 - 1221.e6. 10.1016/j.neurobiolaging.2014.08.024. Green open access
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Varsani, H; Charman, SC; Li, CK; Marie, SKN; Amato, AA; Banwell, B; Bove, KE; ... Wedderburn, LR; + view all (2015) Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease. Annals of the Rheumatic Diseases , 74 (1) pp. 204-210. 10.1136/annrheumdis-2013-203396. Green open access
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Wenborn, A; Terry, C; Gros, N; Joiner, S; D'Castro, L; Panico, S; Sells, J; ... Wadsworth, JD; + view all (2015) A novel and rapid method for obtaining high titre intact prion strains from mammalian brain. Scientific Reports , 5 , Article 10062. 10.1038/srep10062. Green open access
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2014

Asi, YT; Ling, H; Ahmed, Z; Lees, AJ; Revesz, T; Holton, JL; (2014) Neuropathological features of multiple system atrophy with cognitive impairment. Movement Disorders , 29 (7) pp. 884-888. 10.1002/mds.25887.

Asi, YT; Simpson, JE; Heath, PR; Wharton, SB; Lees, AJ; Revesz, T; Houlden, H; (2014) Alpha-synuclein mRNA expression in oligodendrocytes in MSA. Glia , 62 (6) pp. 964-970. 10.1002/glia.22653. Green open access
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Balint, B; Bhatia, KP; (2014) Dystonia: an update on phenomenology, classification, pathogenesis and treatment. CURRENT OPINION IN NEUROLOGY , 27 (4) pp. 468-476. 10.1097/WCO.0000000000000114.

Balint, B; Bhatia, KP; (2014) Friend or Foe? IgLON5 Antibodies in a Novel Tauopathy With Prominent Sleep Movement Disorder, Ataxia, and Chorea. MOVEMENT DISORDERS , 29 (8) p. 989. 10.1002/mds.25926.

Baschieri, F; Batla, A; Erro, R; Ganos, C; Cordivari, C; Bhatia, KP; (2014) Paroxysmal exercise-induced dystonia due to GLUT1 mutation can be responsive to levodopa: a case report. JOURNAL OF NEUROLOGY , 261 (3) pp. 615-616. 10.1007/s00415-014-7250-x.

Batla, A; Bhatia, KP; (2014) A New Gene for Fahr's Syndrome-PDGF-B. MOVEMENT DISORDERS , 29 (3) p. 307. 10.1002/mds.25788.

Batla, A; Erro, R; Stamelou, M; Schneider, SA; Schwingenschuh, P; Ganos, C; Bhatia, KP; (2014) Patients With Scans Without Evidence of Dopaminergic Deficit: A Long-Term Follow-up Study. MOVEMENT DISORDERS , 29 (14) pp. 1820-1825. 10.1002/mds.26018.

Beilina, A; Rudenko, IN; Kaganovich, A; Civiero, L; Chau, H; Kalia, SK; Kalia, LV; ... Cookson, MR; + view all (2014) Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , 111 (7) pp. 2626-2631. 10.1073/pnas.1318306111.

Bhatia, KP; (2014) 'That DAT' gene that causes dystonia-parkinsonism: broadening the phenotype. BRAIN , 137 pp. 976-977. 10.1093/brain/awu056.

Birsa, N; Norkett, R; Wauer, T; Mevissen, TE; Wu, HC; Foltynie, T; Bhatia, K; ... Kittler, JT; + view all (2014) Lysine 27 Ubiquitination of the Mitochondrial Transport Protein Miro Is Dependent on Serine 65 of the Parkin Ubiquitin Ligase. J Biol Chem , 289 (21) pp. 14569-14582. 10.1074/jbc.M114.563031. Green open access
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Boccagni, C; Bagnato, S; Sant'Angelo, A; Galardi, G; (2014) Reply: Dystonia after severe head injuries. MOVEMENT DISORDERS , 29 (4) p. 578. 10.1002/mds.25861.

Brady, S; Barresi, R; Charlton, R; Turner, C; Holton, JL; (2014) A 29-YEAR-OLD MAN WITH DIFFICULTY CLIMBING THE STAIRS. BRAIN PATHOLOGY , 24 (5) pp. 549-550. 10.1111/bpa.12202.

Brady, S; Healy, EG; Machado, P; Parton, M; Holton, JL; Hanna, MG; (2014) Inclusion body myositis: Clinical review and current practice. Clinical Practice , 11 (6) pp. 623-637. 10.2217/cpr.14.54.

Brady, S; Squier, W; Sewry, C; Hanna, M; Hilton-Jones, D; Holton, JL; (2014) A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis. BMJ Open , 4 (4) , Article e004552. 10.1136/bmjopen-2013-004552. Green open access
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Brigo, F; Erro, R; Marangi, A; Bhatia, K; Tinazzi, M; (2014) Differentiating drug-induced parkinsonism from Parkinson's disease: An update on non-motor symptoms and investigations. PARKINSONISM & RELATED DISORDERS , 20 (8) pp. 808-814. 10.1016/j.parkreldis.2014.05.011.

Charlesworth, G; Bhatia, KP; Wood, NW; (2014) No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia. Movement Disorders , 29 (1) pp. 154-155. 10.1002/mds.25713.

Charlesworth, G; Bhatia, KP; Wood, NW; (2014) No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia. Mov Disord , 29 (1) pp. 154-155. 10.1002/mds.25713. Green open access
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Compta, Y; Kempster, P; Parkkinen, L; Selikhova, M; Lashley, T; Holton, JL; Lees, AJ; (2014) The significance of α-synuclein, amyloid-β and tau pathologies in parkinson's disease progression and related dementia. Neurodegenerative Diseases , 13 (2-3) 154 - 156. 10.1159/000354670.

Cortese, A; Plagnol, V; Brady, S; Simone, R; Lashley, T; Acevedo-Arozena, A; de Silva, R; ... Fratta, P; + view all (2014) Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy. Neurobiology of Aging , 35 (6) pp. 1491-1498. 10.1016/j.neurobiolaging.2013.12.029. Green open access
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Damasio, J; Taipa, R; Melo-Pires, M; Guimaraes, A; Bhatia, KP; Santos, M; Carrilho, I; (2014) Freezing of gait - First motor manifestation in late infantile variant neuronal ceroid lipofuscinosis. PARKINSONISM & RELATED DISORDERS , 20 (2) pp. 243-244. 10.1016/j.parkreldis.2013.10.015.

Damotte, V; Guillot-Noel, L; Patsopoulos, NA; Madireddy, L; El Behi, M; International Multiple Sclerosis Genetics Consortium, ; Wellcome Trust Case Control Consortium 2, ; ... Fontaine, B; + view all (2014) A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility. Genes Immun , 15 (2) pp. 126-132. 10.1038/gene.2013.70.

Davis, OSP; Band, G; Pirinen, M; Haworth, CMA; Meaburn, EL; Kovas, Y; Harlaar, N; ... Spencer, CCA; + view all (2014) The correlation between reading and mathematics ability at age twelve has a substantial genetic component. NATURE COMMUNICATIONS , 5 (ARTN 420) 10.1038/ncomms5204.

De Pablo-Fernandez, E; Doherty, KM; Holton, JL; Revesz, T; Djamshidian, A; Limousin, P; Bhatia, KP; ... Ling, H; + view all (2014) Concomitant fragile X-associated tremor ataxia syndrome and Parkinson's disease: a clinicopathological report of two cases. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2014-309460. (In press). Green open access
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Deas, E; Piipari, K; Machhada, A; Li, A; Gutierrez-del-Arroyo, A; Withers, DJ; Wood, NW; (2014) PINK1 deficiency in beta-cells increases basal insulin secretion and improves glucose tolerance in mice. OPEN BIOLOGY , 4 (5) 10.1098/rsob.140051.

Deas, E; Piipari, K; Machhada, A; Li, A; Gutierrez-del-Arroyo, A; Withers, DJ; Wood, NW; (2014) PINK1 deficiency in b-cells increases basal insulin secretion and improves glucose tolerance in mice. Open Biol , 4 (5) 140051-.

Dong, J; Gao, J; Nalls, M; Gao, X; Huang, X; Han, J; Singleton, AB; (2014) Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. NEUROBIOLOGY OF AGING , 35 (6) 10.1016/j.neurobiolaging.2013.12.020.

Dumontheil, I; Jensen, SK; Wood, NW; Meyer, ML; Lieberman, MD; Blakemore, SJ; (2014) Preliminary investigation of the influence of dopamine regulating genes on social working memory. Soc Neurosci , 9 (5) 1 - 15. 10.1080/17470919.2014.925503. Green open access
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Dumontheil, I; Jensen, SKG; Wood, NW; Meyer, ML; Lieberman, MD; Blakemore, SJ; (2014) Preliminary investigation of the influence of dopamine regulating genes on social working memory. Social Neuroscience , 9 (5) pp. 437-451. 10.1080/17470919.2014.925503.

Dunn, L; Allen, GFG; Mamais, A; Ling, H; Li, A; Duberley, KE; Hargreaves, IP; ... Bandopadhyay, R; + view all (2014) Dysregulation of glucose metabolism is an early event in sporadic Parkinson's disease. Neurobiology of Aging , 35 (5) pp. 1111-1115. 10.1016/j.neurobiolaging.2013.11.001.

Edwards, MJ; Stone, J; Lang, AE; (2014) Functional/Psychogenic Movement Disorders: Do We Know What They Are? WILEY

Erro, R; Bhatia, KP; Hardy, J; (2014) GNAL Mutations and Dystonia. JAMA NEUROLOGY , 71 (8) pp. 1052-1053. 10.1001/jamaneurol.2014.1506.

Erro, R; Cordivari, C; Bhatia, KP; (2014) SPG31 presenting with orthostatic tremor. EUROPEAN JOURNAL OF NEUROLOGY , 21 (4) E34-E35. 10.1111/ene.12360.

Erro, R; Sheerin, U-M; Bhatia, KP; (2014) Paroxysmal Dyskinesias Revisited: A Review of 500 Genetically Proven Cases and a New Classification. MOVEMENT DISORDERS , 29 (9) pp. 1108-1116. 10.1002/mds.25933.

Erro, R; Stamelou, M; Saifee, TA; Ganos, C; Antelmi, E; Balint, B; Cordivari, C; (2014) Facial tremor in dystonia. PARKINSONISM & RELATED DISORDERS , 20 (8) pp. 924-925. 10.1016/j.parkreldis.2014.04.029.

Esposito, M; Erro, R; Edwards, MJ; Cawley, N; Choi, D; Bhatia, KP; Cordivari, C; (2014) The Pathophysiology of Symptomatic Propriospinal Myoclonus. MOVEMENT DISORDERS , 29 (9) pp. 1097-1099. 10.1002/mds.25951.

Fares, M-B; Ait-Bouziad, N; Dikiy, I; Mbefo, MK; Jovicic, A; Kiely, A; Holton, JL; ... Lashuel, HA; + view all (2014) The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of alpha-synuclein, and enhances its secretion and nuclear localization in cells. HUMAN MOLECULAR GENETICS , 23 (17) pp. 4491-4509. 10.1093/hmg/ddu165.

Ganos, C; Aguirregomozcorta, M; Batla, A; Stamelou, M; Schwingenschuh, P; Muenchau, A; Edwards, MJ; (2014) Psychogenic paroxysmal movement disorders Clinical features and diagnostic clues. PARKINSONISM & RELATED DISORDERS , 20 (1) pp. 41-46. 10.1016/j.parkreldis.2013.09.012.

Ganos, C; Aguirregomozcorta, M; Batla, A; Stamelou, M; Schwingenschuh, P; Münchau, A; Edwards, MJ; (2014) Psychogenic paroxysmal movement disorders - Clinical features anddiagnostic clues. Parkinsonism and Related Disorders , 20 (1) pp. 41-46. 10.1016/j.parkreldis.2013.09.012.

Ganos, C; Biskup, S; Krueger, S; Meyer-Osores, A; Hodecker, S; Hagel, C; Schoels, L; ... Muenchau, A; + view all (2014) Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: A novel syndrome? PARKINSONISM & RELATED DISORDERS , 20 (3) pp. 328-331. 10.1016/j.parkreldis.2013.11.011.

Ganos, C; Edwards, M; Bhatia, KP; (2014) Reply to R. Erro and M. Tinazzi's "Functional (psychogenic) paroxysms: the diagnosis is in the eye of the beholder". PARKINSONISM & RELATED DISORDERS , 20 (3) p. 345. 10.1016/j.parkreldis.2013.11.015.

Ganos, C; Erro, R; Cavanna, AE; Bhatia, KP; (2014) Functional tics and echophenomena. PARKINSONISM & RELATED DISORDERS , 20 (12) pp. 1440-1441. 10.1016/j.parkreldis.2014.10.001.

Ganos, C; Kassavetis, P; Erro, R; Edwards, MJ; Rothwell, J; Bhatia, KP; (2014) The role of the cerebellum in the pathogenesis of cortical myoclonus. MOVEMENT DISORDERS , 29 (4) pp. 437-443. 10.1002/mds.25867.

Heckman, MG; Schottlaender, L; Soto-Ortolaza, AI; Diehl, NN; Rayaprolu, S; Ogaki, K; Fujioka, S; ... Ross, OA; + view all (2014) LRRK2 exonic variants and risk of multiple system atrophy. NEUROLOGY , 83 (24) pp. 2256-2261. 10.1212/WNL.0000000000001078.

Hersheson, J; Burke, D; Clayton, R; Anderson, G; Jacques, TS; Mills, P; Wood, NW; ... Houlden, H; + view all (2014) CATHEPSIN D DEFICIENCY CAUSES JUVENILE-ONSET ATAXIA AND DISTINCTIVE MUSCLE PATHOLOGY. NEUROLOGY , 83 (20) pp. 1873-1875.

Holmans, P; Moskvina, V; Jones, L; Sharma, M; Vedernikov, A; Buchel, F; Saad, M; ... Williams, NM; + view all (2014) A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease (vol 22, pg 1039, 2013). HUMAN MOLECULAR GENETICS , 23 (2) p. 562. 10.1093/hmg/ddt554.

Hysi, PG; Cheng, C-Y; Springelkamp, H; Macgregor, S; Bailey, JNC; Wojciechowski, R; Vitart, V; ... Aung, T; + view all (2014) Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. NATURE GENETICS , 46 (10) pp. 1126-1130. 10.1038/ng.3087.

Iovino, M; Pfisterer, U; Holton, JL; Lashley, T; Swingler, RJ; Calo, L; Treacy, R; ... Spillantini, MG; + view all (2014) The novel MAPT mutation K298E: Mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons. Acta Neuropathologica , 127 (2) pp. 283-295. 10.1007/s00401-013-1219-1.

Jahanshahi, M; Torkamani, M; Beigi, M; Wilkinson, L; Page, D; Madeley, L; Bhatia, K; ... Tisch, S; + view all (2014) Pallidal stimulation for primary generalised dystonia: Effect on cognition, mood and quality of life. Journal of Neurology , 261 (1) pp. 164-173. 10.1007/s00415-013-7161-2.

Jahanshahi, M; Torkamani, M; Beigi, M; Wilkinson, L; Page, D; Madeley, L; Bhatia, K; ... Tisch, S; + view all (2014) Pallidal stimulation for primary generalised dystonia: effect on cognition, mood and quality of life. J Neurol , 261 (1) pp. 164-173. 10.1007/s00415-013-7161-2. Green open access
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Kara, E; Kiely, AP; Proukakis, C; Giffin, N; Love, S; Hehir, J; Rantell, K; ... Houlden, H; + view all (2014) A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. JAMA Neurology , 71 (9) 1162 - 1171. 10.1001/jamaneurol.2014.994.

Kara, E; Xiromerisiou, G; Spanaki, C; Bozi, M; Koutsis, G; Panas, M; Dardiotis, E; ... Singleton, AB; + view all (2014) Assessment of Parkinson's disease risk loci in Greece. NEUROBIOLOGY OF AGING , 35 (2) 10.1016/j.neurobiolaging.2013.07.011.

Kara, E; Xiromerisiou, G; Spanaki, C; Bozi, M; Koutsis, G; Panas, M; Dardiotis, E; ... Singleton, AB; + view all (2014) Assessment of Parkinson's disease risk loci in Greece. Neurobiology of Aging , 35 (2) 10.1016/j.neurobiolaging.2013.07.011.

Katschnig-Winter, P; Schwingenschuh, P; Davare, M; Sadnicka, A; Schmidt, R; Rothwell, JC; Bhatia, KP; (2014) Motor sequence learning and motor adaptation in primary cervical dystonia. JOURNAL OF CLINICAL NEUROSCIENCE , 21 (6) pp. 934-938. 10.1016/j.jocn.2013.08.019.

Katschnig-Winter, P; Schwingenschuh, P; Davare, M; Sadnicka, A; Schmidt, R; Rothwell, JC; Bhatia, KP; (2014) Motor sequence learning and motor adaptation in primary cervical dystonia. Journal of Clinical Neuroscience , 21 (6) pp. 934-938. 10.1016/j.jocn.2013.08.019.

Kefalopoulou, Z; Politis, M; Piccini, P; Mencacci, N; Bhatia, K; Jahanshahi, M; Widner, H; ... Foltynie, T; + view all (2014) Long-term Clinical Outcome of Fetal Cell Transplantation for Parkinson Disease Two Case Reports. JAMA NEUROLOGY , 71 (1) pp. 83-87. 10.1001/jamaneurol.2013.4749.

Kilford, EJ; Dumontheil, I; Wood, NW; Blakemore, SJ; (2014) Influence of COMT genotype and affective distractors on the processing of self-generated thought. Soc Cogn Affect Neurosci , 10 (6) pp. 777-782. 10.1093/scan/nsu118. Green open access
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Kojovic, M; Mir, P; Trender-Gerhard, I; Schneider, SA; Pareés, I; Edwards, MJ; Bhatia, KP; (2014) Motivational modulation of bradykinesia in Parkinson's disease off and on dopaminergic medication. J Neurol , 261 (6) pp. 1080-1089. 10.1007/s00415-014-7315-x. Green open access
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Koutsis, G; Kladi, A; Karadima, G; Houlden, H; Wood, NW; Christodoulou, C; Panas, M; (2014) A study of hereditary ataxias in the Greek population. Archives of Hellenic Medicine , 31 (4) pp. 433-445.

Koutsis, G; Kladi, A; Karadima, G; Houlden, H; Wood, NW; Christodoulou, K; Panas, M; (2014) Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective. JOURNAL OF THE NEUROLOGICAL SCIENCES , 336 (1-2) pp. 87-92. 10.1016/j.jns.2013.10.012.

Koutsis, G; Kladi, A; Karadima, G; Houlden, H; Wood, NW; Christodoulou, K; Panas, M; (2014) Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective. Journal of the Neurological Sciences , 336 (1-2) pp. 87-92. 10.1016/j.jns.2013.10.012.

Ling, H; Holton, JL; Lees, AJ; Revesz, T; (2014) TDP-43 pathology is present in most post-encephalitic parkinsonism brains. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY , 40 (5) pp. 654-657. 10.1111/nan.12067.

Ling, H; Kara, E; Revesz, T; Lees, AJ; Plant, GT; Martino, D; Houlden, H; ... Holton, JL; + view all (2014) Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer. Acta Neuropathol Commun , 2 (1) , Article 24. 10.1186/2051-5960-2-24. Green open access
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Ling, H; de Silva, R; Massey, LA; Courtney, R; Hondhamuni, G; Bajaj, N; Lowe, J; ... Revesz, T; + view all (2014) Characteristics of progressive supranuclear palsy presenting with corticobasal syndrome: a cortical variant. Neuropathol Appl Neurobiol , 40 (2) 149 - 163. 10.1111/nan.12037. Green open access
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Liu, YT; Hersheson, J; Plagnol, V; Fawcett, K; Duberley, KEC; Preza, E; Hargreaves, IP; ... Houlden, H; + view all (2014) Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein:Clinical, genetic and biochemical characterisation. Journal of Neurology, Neurosurgery and Psychiatry , 85 (5) pp. 493-498. 10.1136/jnnp-2013-306483.

Ludtmann, MHR; Angelova, PR; Gandhi, S; Kleneman, D; Devine, M; Wood, NW; Abramov, AY; (2014) Alpha-Synuclein Induces Mitochondrial Dysfunction Leading to a Higher Susceptibility of PTP Opening. In: (Proceedings) 58th Annual Meeting of the Biophysical-Society. (pp. 590A-590A). CELL PRESS

Macerollo, A; Mencacci, NE; Erro, R; Cordivari, C; Edwards, MJ; Wood, NW; Bhatia, KP; (2014) Screening of mutations in NOL3 in a myoclonic syndromes series. J Neurol , 261 (9) pp. 1830-1831. 10.1007/s00415-014-7463-z. Green open access
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Macerollo, A; Perry, R; Stamelou, M; Batla, A; Mazumder, AA; Adams, ME; Bhatia, KP; (2014) Susceptibility-weighted imaging changes suggesting brain iron accumulation in Huntington's disease: an epiphenomenon which causes diagnostic difficulty. EUROPEAN JOURNAL OF NEUROLOGY , 21 (2) E16-E17. 10.1111/ene.12298.

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Mead, S; Wadsworth, JDF; Porter, M-C; Linehan, JM; Pietkiewicz, W; Jackson, GS; Brandner, S; (2014) Variant Creutzfeldt-Jakob Disease With Extremely Low Lymphoreticular Deposition of Prion Protein. JAMA NEUROLOGY , 71 (3) pp. 340-343. 10.1001/jamaneurol.2013.5378.

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