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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.

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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Angelova, PR; Ludtmann, MH; Horrocks, MH; Negoda, A; Cremades, N; Klenerman, D; Dobson, CM; (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

Charlesworth, G; Balint, B; Mencacci, NE; Carr, L; Wood, NW; Bhatia, KP; (2016) SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy. Mov Disord 10.1002/mds.26716.

Deas, E; Cremades, N; Angelova, PR; Ludtmann, MH; Yao, Z; Chen, S; Horrocks, MH; (2016) Alpha-Synuclein Oligomers Interact with Metal Ions to Induce Oxidative Stress and Neuronal Death in Parkinson's Disease. Antioxid Redox Signal , 24 (7) pp. 376-391. 10.1089/ars.2015.6343.

Horrocks, MH; Lee, SF; Gandhi, S; Magdalinou, NK; Chen, SW; Devine, MJ; Tosatto, L; (2016) Single-Molecule Imaging of Individual Amyloid Protein Aggregates in Human Biofluids. ACS Chem Neurosci , 7 (3) pp. 399-406. 10.1021/acschemneuro.5b00324.

Iljina, M; Garcia, GA; Horrocks, MH; Tosatto, L; Choi, ML; Ganzinger, KA; Abramov, AY; (2016) Kinetic model of the aggregation of alpha-synuclein provides insights into prion-like spreading. Proc Natl Acad Sci U S A , 113 (9) E1206-E1215. 10.1073/pnas.1524128113.

Kara, E; Tucci, A; Manzoni, C; Lynch, DS; Elpidorou, M; Bettencourt, C; Chelban, V; (2016) Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain , 139 (7) pp. 1904-1918. 10.1093/brain/aww111. Green open access

Kenyan Bacteraemia Study Group, ; Wellcome Trust Case Control Consortium 2 (WTCCC2), ; Rautanen, A; Pirinen, M; Mills, TC; Rockett, KA; Strange, A; (2016) Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children. Am J Hum Genet , 98 (6) pp. 1092-1100. 10.1016/j.ajhg.2016.03.025.

Lesage, S; Drouet, V; Majounie, E; Deramecourt, V; Jacoupy, M; Nicolas, A; Cormier-Dequaire, F; (2016) Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet , 98 (3) pp. 500-513. 10.1016/j.ajhg.2016.01.014.

Lubbe, SJ; Escott-Price, V; Brice, A; Gasser, T; Hardy, J; Heutink, P; Sharma, M; (2016) Is the MC1R variant p.R160W associated with Parkinson's? Ann Neurol , 79 (1) pp. 159-161. 10.1002/ana.24527.

Mencacci, NE; Kamsteeg, EJ; Nakashima, K; R'Bibo, L; Lynch, DS; Balint, B; Willemsen, MA; (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

Mok, KY; Sheerin, U; Simón-Sánchez, J; Salaka, A; Chester, L; Escott-Price, V; Mantripragada, K; (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

Prins, BP; Abbasi, A; Wong, A; Vaez, A; Nolte, I; Franceschini, N; Stuart, PE; (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

Swallow, DM; Lawton, MA; Grosset, KA; Malek, N; Smith, CR; Bajaj, NP; Barker, RA; (2016) Variation in Recent Onset Parkinson's Disease: Implications for Prodromal Detection. J Parkinsons Dis , 6 (2) pp. 289-300. 10.3233/JPD-150741.

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

van Rheenen, W; Shatunov, A; Dekker, AM; McLaughlin, RL; Diekstra, FP; Pulit, SL; van der Spek, RA; (2016) Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet 10.1038/ng.3622.


Charlesworth, G; Angelova, PR; Bartolomé-Robledo, F; Ryten, M; Trabzuni, D; Stamelou, M; Abramov, AY; (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

Chen, SW; Drakulic, S; Deas, E; Ouberai, M; Aprile, FA; Arranz, R; Ness, S; (2015) Structural characterization of toxic oligomers that are kinetically trapped during α-synuclein fibril formation. Proc Natl Acad Sci U S A , 112 (16) E1994-E2003. 10.1073/pnas.1421204112.

Desikan, RS; Schork, AJ; Wang, Y; Witoelar, A; Sharma, M; McEvoy, LK; Holland, D; (2015) Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus. Mol Psychiatry , 20 (12) pp. 1588-1595. 10.1038/mp.2015.6.

Escott-Price, V; International, Parkinson's Disease Genomics Consortium; Nalls, MA; Morris, HR; Lubbe, S; Brice, A; Gasser, T; (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

Jansen, IE; Bras, JM; Lesage, S; Schulte, C; Gibbs, JR; Nalls, MA; Brice, A; (2015) CHCHD2 and Parkinson's disease. Lancet Neurol , 14 (7) pp. 678-679. 10.1016/S1474-4422(15)00094-0.

Lesage, S; Bras, J; Cormier-Dequaire, F; Condroyer, C; Nicolas, A; Darwent, L; Guerreiro, R; (2015) Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol Genet , 1 (1) , Article e9. 10.1212/NXG.0000000000000009.

Malek, N; Swallow, DM; Grosset, KA; Lawton, MA; Smith, CR; Bajaj, NP; Barker, RA; (2015) Olfaction in Parkin single and compound heterozygotes in a cohort of young onset Parkinson's disease patients. Acta Neurol Scand 10.1111/ane.12538.

Mencacci, NE; Erro, R; Wiethoff, S; Hersheson, J; Ryten, M; Balint, B; Ganos, C; (2015) ADCY5 mutations are another cause of benign hereditary chorea. Neurology , 85 (1) pp. 80-88. 10.1212/WNL.0000000000001720. Green open access

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

Mencacci, NE; R'bibo, L; Bandres-Ciga, S; Carecchio, M; Zorzi, G; Nardocci, N; Garavaglia, B; (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

Mencacci, NE; Rubio-Agusti, I; Zdebik, A; Asmus, F; Ludtmann, MH; Ryten, M; Plagnol, V; (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


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

Damotte, V; Guillot-Noel, L; Patsopoulos, NA; Madireddy, L; El Behi, M; International Multiple Sclerosis Genetics Consortium, ; Wellcome Trust Case Control Consortium 2, ; (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, OS; Band, G; Pirinen, M; Haworth, CM; Meaburn, EL; Kovas, Y; Harlaar, N; (2014) The correlation between reading and mathematics ability at age twelve has a substantial genetic component. Nat Commun , 5 4204-. 10.1038/ncomms5204.

Deas, E; Piipari, K; Machhada, A; Li, A; Gutierrez-del-Arroyo, A; Withers, DJ; Wood, NW; (2014) PINK1 deficiency in β-cells increases basal insulin secretion and improves glucose tolerance in mice. Open Biol , 4 140051-. 10.1098/rsob.140051.

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

Hersheson, J; Burke, D; Clayton, R; Anderson, G; Jacques, TS; Mills, P; Wood, NW; (2014) Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology. Neurology , 83 (20) pp. 1873-1875. 10.1212/WNL.0000000000000981.

Kara, E; Xiromerisiou, G; Spanaki, C; Bozi, M; Koutsis, G; Panas, M; Dardiotis, E; (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; (2014) Assessment of Parkinson's disease risk loci in Greece. Neurobiol Aging , 35 (2) 442.e9-442.e16. 10.1016/j.neurobiolaging.2013.07.011.

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

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. J Neurol Sci , 336 (1-2) pp. 87-92. 10.1016/j.jns.2013.10.012.

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: (pp. 590A-590A).

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

Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. BRAIN , 137 pp. 2480-2492. 10.1093/brain/awu179.

Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain , 137 (9) pp. 2480-2492. 10.1093/brain/awu179. Green open access

Nalls, MA; Pankratz, N; Lill, CM; Do, CB; Hernandez, DG; Saad, M; DeStefano, AL; (2014) Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet , 46 (9) pp. 989-993. 10.1038/ng.3043.

Narayan, P; Holmström, KM; Kim, DH; Whitcomb, DJ; Wilson, MR; St George-Hyslop, P; Wood, NW; (2014) Rare individual amyloid-β oligomers act on astrocytes to initiate neuronal damage. Biochemistry , 53 (15) pp. 2442-2453. 10.1021/bi401606f.

Parkinson, MH; Patel, R; Davagnanam, I; Wood, NW; Giunti, P; (2014) When the penny drops. Pract Neurol , 14 (6) 409 - 414. 10.1136/practneurol-2014-000859. Green open access

Proukakis, C; Shoaee, M; Morris, J; Brier, T; Kara, E; Sheerin, UM; Charlesworth, G; (2014) Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations. Mov Disord , 29 (8) 060-1064. 10.1002/mds.25883. Green open access

Psychosis Endophenotypes International Consortium, ; Wellcome Trust Case-Control Consortium 2, ; Bramon, E; Pirinen, M; Strange, A; Lin, K; Freeman, C; (2014) A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation. Biol Psychiatry , 75 (5) 386 - 397. 10.1016/j.biopsych.2013.03.033.

Sheerin, UM; Schneider, SA; Carr, L; Deuschl, G; Hopfner, F; Stamelou, M; Wood, NW; (2014) ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology , 82 (12) pp. 1065-1067. 10.1212/WNL.0000000000000254. Green open access

Stamelou, M; Charlesworth, G; Cordivari, C; Schneider, SA; Kaegi, G; Sheerin, U-M; Rubio-Agusti, I; (2014) The Phenotypic Spectrum of DYT24 Due to ANO3 Mutations. MOVEMENT DISORDERS , 29 (7) pp. 928-934. 10.1002/mds.25802.

Stamelou, M; Charlesworth, G; Cordivari, C; Schneider, SA; Kägi, G; Sheerin, UM; Rubio-Agusti, I; (2014) The phenotypic spectrum of DYT24 due to ANO3 mutations. Mov Disord , 29 (7) pp. 928-934. 10.1002/mds.25802. Green open access

Stroh, PR; Ludtmann, MHR; Wood, NW; Klenerman, D; Gandhi, S; Abramov, AY; (2014) Alpha-Synuclein Modulates [Ca2+]c of Neurons and Astrocytes that Trigger Cell Death. In: (pp. 529A-529A).

Thomas, AC; Williams, H; Seto-Salvia, N; Bacchelli, C; Jenkins, D; O'Sullivan, M; Mengrelis, K; (2014) Mutations in SNX14 cause a distinctive autosomal recessive cerebellar ataxia and intellectual disability syndrome. The American Journal of Human Genetics , 95 (5) pp. 611-621. 10.1016/j.ajhg.2014.10.007. Green open access


Angeli, A; Mencacci, NE; Duran, R; Aviles-Olmos, I; Kefalopoulou, Z; Candelario, J; Rusbridge, S; (2013) Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation. Movement Disorders , 28 (10) pp. 1370-1375. 10.1002/mds.25535. Green open access

Burchell, VS; Nelson, DE; Sanchez-Martinez, A; Delgado-Camprubi, M; Ivatt, RM; Pogson, JH; Randle, SJ; (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nat Neurosci , 16 (9) pp. 1257-1265. 10.1038/nn.3489.

Charlesworth, G; Bhatia, KP; Wood, NW; (2013) The genetics of dystonia: new twists in an old tale. Brain , 136 (7) 2017 - 2037. 10.1093/brain/awt138. Green open access

Charlesworth, G; Mohire, MD; Schneider, SA; Stamelou, M; Wood, NW; Bhatia, KP; (2013) Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology , 81 (13) pp. 1148-1151. 10.1212/WNL.0b013e3182a55fa2.

Cleeter, MW; Chau, KY; Gluck, C; Mehta, A; Hughes, DA; Duchen, M; Wood, NW; (2013) Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage. Neurochem Int , 62 (1) pp. 1-7. 10.1016/j.neuint.2012.10.010. Gold open access

Cooper-Knock, J; Frolov, A; Highley, JR; Charlesworth, G; Kirby, J; Milano, A; Hartley, J; (2013) C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study. Neurology , 81 (9) pp. 808-811. 10.1212/WNL.0b013e3182a2cc38.

Duran, R; Mencacci, NE; Angeli, AV; Shoai, M; Deas, E; Houlden, H; Mehta, A; (2013) The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Movement Disorders , 28 (2) 232 - 236. 10.1002/mds.25248. Green open access

Hersheson, J; Mencacci, NE; Davis, M; MacDonald, N; Trabzuni, D; Ryten, M; Pittman, A; (2013) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol , 73 (4) pp. 546-553. 10.1002/ana.23832.

Holmans, P; Moskvina, V; Jones, L; Sharma, M; International Parkinson's Disease Genomics Consortium, ; Vedernikov, A; Buchel, F; (2013) A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet , 22 (5) pp. 1039-1049. 10.1093/hmg/dds492.

Holmström, KM; Marina, N; Baev, AY; Wood, NW; Gourine, AV; Abramov, AY; (2013) Signalling properties of inorganic polyphosphate in the mammalian brain. Nat Commun , 4 1362-. 10.1038/ncomms2364. Gold open access

Koutsis, G; Pandraud, A; Karadima, G; Panas, M; Reilly, MM; Floroskufi, P; Wood, NW; (2013) Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients. CLINICAL GENETICS , 83 (4) pp. 388-391. 10.1111/j.1399-0004.2012.01910.x.

Koutsis, G; Pandraud, A; Karadima, G; Panas, M; Reilly, MM; Floroskufi, P; Wood, NW; (2013) Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients. Clin Genet , 83 (4) pp. 388-391. 10.1111/j.1399-0004.2012.01910.x.

LeishGEN Consortium, ; Wellcome Trust Case Control Consortium 2, ; Fakiola, M; Strange, A; Cordell, HJ; Miller, EN; Pirinen, M; (2013) Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis. Nat Genet , 45 (2) pp. 208-213. 10.1038/ng.2518.

Liu, YT; Hersheson, J; Plagnol, V; Fawcett, K; Duberley, KE; Preza, E; Hargreaves, IP; (2013) Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306483. Green open access

Mead, S; Gandhi, S; Beck, J; Caine, D; Gallujipali, D; Carswell, C; Hyare, H; (2013) A Novel Prion Disease Presenting with Diarrhea and Autonomic Neuropathy. New England Journal of Medicine , 369 (20) 1904- 1914. 10.1056/NEJMoa1214747. Green open access

Menon, RP; Nethisinghe, S; Faggiano, S; Vannocci, T; Rezaei, H; Pemble, S; Sweeney, MG; (2013) The role of interruptions in polyQ in the pathology of SCA1. PLOS Genetics , 9 (7) , Article e1003648. 10.1371/journal.pgen.1003648. Green open access

Ripke, S; O'Dushlaine, C; Chambert, K; Moran, JL; Kähler, AK; Akterin, S; Bergen, SE; (2013) Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet , 45 (10) pp. 1150-1159. 10.1038/ng.2742.

Sheerin, UM; Stamelou, M; Charlesworth, G; Shiner, T; Spacey, S; Valente, EM; Wood, NW; (2013) Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. J Neurol , 260 (2) pp. 656-660. 10.1007/s00415-012-6747-4.

Trabzuni, D; Ryten, M; Emmett, W; Ramasamy, A; Lackner, KJ; Zeller, T; Walker, R; (2013) Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 Locus. PLOS ONE , 8 (8) , Article e70724. 10.1371/journal.pone.0070724. Green open access

Wood-Kaczmar, A; Deas, E; Wood, NW; Abramov, AY; (2013) The role of the mitochondrial NCX in the mechanism of neurodegeneration in Parkinson's disease. Adv Exp Med Biol , 961 pp. 241-249. 10.1007/978-1-4614-4756-6_20.


Charlesworth, G; Gandhi, S; Bras, JM; Barker, RA; Burn, DJ; Chinnery, PF; Gentleman, SM; (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiol Aging , 33 (4) 838.e7-838.11. 10.1016/j.neurobiolaging.2011.11.001.

Charlesworth, G; Plagnol, V; Holmström, KM; Bras, J; Sheerin, UM; Preza, E; Rubio-Agusti, I; (2012) Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. The American Journal of Human Genetics , 91 (6) 1041 - 1050. 10.1016/j.ajhg.2012.10.024. Green open access

Cremades, N; Cohen, SI; Deas, E; Abramov, AY; Chen, AY; Orte, A; Sandal, M; (2012) Direct observation of the interconversion of normal and toxic forms of α-synuclein. Cell , 149 (5) pp. 1048-1059. 10.1016/j.cell.2012.03.037.

Fitzgerald, JC; Camprubi, MD; Dunn, L; Wu, HC; Ip, NY; Kruger, R; Martins, LM; (2012) Phosphorylation of HtrA2 by cyclin-dependent kinase-5 is important for mitochondrial function. Cell Death Differ , 19 (2) pp. 257-266. 10.1038/cdd.2011.90.

Gandhi, S; Vaarmann, A; Yao, Z; Duchen, MR; Wood, NW; Abramov, AY; (2012) Dopamine induced neurodegeneration in a PINK1 model of Parkinson's disease. PLoS One , 7 (5) , Article e37564. 10.1371/journal.pone.0037564. Green open access

Gardiner, AR; Bhatia, KP; Stamelou, M; Dale, RC; Kurian, MA; Schneider, SA; Wali, GM; (2012) PRRT2 gene mutations From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. NEUROLOGY , 79 (21) pp. 2115-2121.

Gardiner, AR; Bhatia, KP; Stamelou, M; Dale, RC; Kurian, MA; Schneider, SA; Wali, GM; (2012) PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology , 79 (21) pp. 2115-2121. 10.1212/WNL.0b013e3182752c5a.

Gegg, ME; Burke, D; Heales, SJ; Cooper, JM; Hardy, J; Wood, NW; Schapira, AH; (2012) Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol , 72 (3) pp. 455-463. 10.1002/ana.23614.

Giunti, P; Houlden, H; Gardner-Thorpe, C; Worth, PF; Johnson, J; Hilton, DA; Revesz, T; (2012) Spinocerebellar ataxia type 11. In: UNSPECIFIED (pp. 521-534).

International Stroke Genetics Consortium (ISGC), ; Wellcome Trust Case Control Consortium 2 (WTCCC2), ; Bellenguez, C; Bevan, S; Gschwendtner, A; Spencer, CC; Burgess, AI; (2012) Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat Genet , 44 (3) pp. 328-333. 10.1038/ng.1081.

Keller, MF; Saad, M; Bras, J; Bettella, F; Nicolaou, N; Simón-Sánchez, J; Mittag, F; (2012) Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet , 21 (22) pp. 4996-5009. 10.1093/hmg/dds335.

Kilarski, LL; Pearson, JP; Newsway, V; Majounie, E; Knipe, MD; Misbahuddin, A; Chinnery, PF; (2012) Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. Mov Disord , 27 (12) pp. 1522-1529. 10.1002/mds.25132.

Kojovic, M; Sheerin, UM; Rubio-Agusti, I; Saha, A; Bras, J; Gibbons, V; Palmer, R; (2012) Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family. Mov Disord , 27 (14) pp. 1829-1830. 10.1002/mds.25199. Green open access

Koutsis, G; Karadima, G; Pandraud, A; Sweeney, MG; Paudel, R; Houlden, H; Wood, NW; (2012) Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion. J Neurol , 259 (9) pp. 1874-1878. 10.1007/s00415-012-6430-9.

Koutsis, G; Pandraud, A; Polke, JM; Wood, NW; Panas, M; Karadima, G; Houlden, H; (2012) Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease. Brain , 135 (Pt 8) e217-6. 10.1093/brain/aws034.

Koutsis, G; Pemble, S; Sweeney, MG; Paudel, R; Wood, NW; Panas, M; Kladi, A; (2012) Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 731 - 731).

Koutsis, G; Pemble, S; Sweeney, MG; Paudel, R; Wood, NW; Panas, M; Kladi, A; (2012) Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia. J Neurol Sci , 318 (1-2) pp. 178-180. 10.1016/j.jns.2012.03.019.

Lill, CM; Roehr, JT; McQueen, MB; Kavvoura, FK; Bagade, S; Schjeide, B-MM; Schjeide, LM; (2012) Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database. PLOS GENETICS , 8 (3) , Article e1002548. 10.1371/journal.pgen.1002548. Green open access

McNeill, A; Duran, R; Proukakis, C; Bras, J; Hughes, D; Mehta, A; Hardy, J; (2012) Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord , 27 (4) pp. 526-532. 10.1002/mds.24945.

Mittag, F; Büchel, F; Saad, M; Jahn, A; Schulte, C; Bochdanovits, Z; Simón-Sánchez, J; (2012) Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities. Hum Mutat , 33 (12) pp. 1708-1718. 10.1002/humu.22161.

Plagnol, V; Curtis, J; Epstein, M; Mok, KY; Stebbings, E; Grigoriadou, S; Wood, NW; (2012) A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics , 28 (21) 2747 - 2754. 10.1093/bioinformatics/bts526. Gold open access

Plun-Favreau, H; Burchell, VS; Holmström, KM; Yao, Z; Deas, E; Cain, K; Fedele, V; (2012) HtrA2 deficiency causes mitochondrial uncoupling through the F₁F₀-ATP synthase and consequent ATP depletion. Cell Death and Disease , 3 , Article e335. 10.1038/cddis.2012.77. Green open access


Sailer, A; Scholz, SW; Gibbs, JR; Tucci, A; Johnson, JO; Wood, NW; Plagnol, V; (2012) Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology , 79 (2) pp. 127-131. 10.1212/WNL.0b013e31825f048e. Gold open access

Simon-Sanchez, J; Kilarski, LL; Nalls, MA; Martinez, M; Schulte, C; Holmans, P; Gasser, T; (2012) Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease. PLOS ONE , 7 (3) , Article e28787. 10.1371/journal.pone.0028787. Green open access

Stamelou, M; Mencacci, NE; Cordivari, C; Batla, A; Wood, NW; Houlden, H; Hardy, J; (2012) Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. Neurology , 79 (5) pp. 435-441. 10.1212/WNL.0b013e318261714a. Gold open access

Strange, A; Riley, BP; Spencer, CCA; Morris, DW; Pirinen, M; O'Dushlaine, CT; Su, Z; (2012) Genome-Wide Association Study Implicates HLA-C*01:02 as a Risk Factor at the Major Histocompatibility Complex Locus in Schizophrenia. BIOLOGICAL PSYCHIATRY , 72 (8) pp. 620-628. 10.1016/j.biopsych.2012.05.035.

Tsoi, LC; Spain, SL; Knight, J; Ellinghaus, E; Stuart, PE; Capon, F; Ding, J; (2012) Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet , 44 (12) 1341 - 1348. 10.1038/ng.2467.

Tsoi, LC; Spain, SL; Knight, J; Ellinghaus, E; Stuart, PE; Capon, F; Ding, J; (2012) Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet , 44 (12) pp. 1341-1348. 10.1038/ng.2467.

Tucci, A; Charlesworth, G; Sheerin, UM; Plagnol, V; Wood, NW; Hardy, J; (2012) Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. Neurosci Lett , 518 (1) 19 - 22. 10.1016/j.neulet.2012.04.033. Green open access


Abramov, AY; Gegg, M; Grunewald, A; Wood, NW; Klein, C; Schapira, AHV; (2011) Bioenergetic Consequences of PINK1 Mutations in Parkinson Disease. PLOS ONE , 6 (10) , Article e25622. 10.1371/journal.pone.0025622. Green open access

Deas, E; Plun-Favreau, H; Gandhi, S; Desmond, H; Kjaer, S; Loh, SHY; Renton, AEM; (2011) PINK1 cleavage at position A103 by the mitochondrial protease PARL. Human Molecular Genetics , 20 (5) pp. 867-879. 10.1093/hmg/ddq526. Green open access

Deas, E; Wood, NW; Plun-Favreau, H; (2011) Mitophagy and Parkinson's disease: The PINK1-parkin link. BBA-MOL CELL RES , 1813 (4) 623 - 633. 10.1016/j.bbamcr.2010.08.007.

Devine, MJ; Plun-Favreau, H; Wood, NW; (2011) Parkinson's disease and cancer: two wars, one front. NAT REV CANCER , 11 (11) 812 - +. 10.1038/nrc3150.

Evans, DM; Spencer, CCA; Pointon, JJ; Su, Z; Harvey, D; Kochan, G; Opperman, U; (2011) Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. NAT GENET , 43 (8) 761 - U67. 10.1038/ng.873.

Ling, H; Polke, JM; Sweeney, MG; Haworth, A; Sandford, CA; Heales, SJR; Wood, NW; (2011) An Intragenic Duplication in Guanosine Triphosphate Cyclohydrolase-1 Gene in a Dopa-Responsive Dystonia Family. MOVEMENT DISORD , 26 (5) 905 - 909. 10.1002/mds.23593.

Nalls, MA; Plagnol, V; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; Simon-Sanchez, J; (2011) Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. LANCET , 377 (9766) 641 - 649. 10.1016/S0140-6736(10)62345-8.

Plagnol, V; Nalls, MA; Bras, JM; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLoS Genetics , 7 (6) , Article e1002142. 10.1371/journal.pgen.1002142. Green open access

Proukakis, C; Moore, D; Labrum, R; Wood, NW; Houlden, H; (2011) Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. J NEUROL SCI , 306 (1-2) 62 - 65. 10.1016/j.jns.2011.03.043.


Sawcer, S; Hellenthal, G; Pirinen, M; Spencer, CCA; Patsopoulos, NA; Moutsianas, L; Dilthey, A; (2011) Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. NATURE , 476 (7359) 214 - 219. 10.1038/nature10251.

Sharma, S; Bandopadhyay, R; Lashley, T; Renton, AEM; Kingsbury, AE; Kumaran, R; Kallis, C; (2011) LRRK2 expression in idiopathic and G2019S positive Parkinson's disease subjects: a morphological and quantitative study. NEUROPATH APPL NEURO , 37 (7) 777 - 790. 10.1111/j.1365-2990.2011.01187.x.

Spencer, CCA; Plagnol, V; Strange, A; Gardner, M; Paisan-Ruiz, C; Band, G; Barker, RA; (2011) Dissection of the genetics of Parkinson's disease identifies an additional association 5 ' of SNCA and multiple associated haplotypes at 17q21. HUM MOL GENET , 20 (2) 345 - 353. 10.1093/hmg/ddq469.

Yao, Z; Gandhi, S; Burchell, VS; Plun-Favreau, H; Wood, NW; Abramov, AY; (2011) Cell metabolism affects selective vulnerability in PINK1-associated Parkinson's disease. J Cell Sci , 124 (Pt 24) pp. 4194-4202. 10.1242/jcs.088260. Gold open access

Zhou, KX; Bellenguez, C; Spencer, CCA; Bennett, AJ; Coleman, RL; Tavendale, R; Hawley, SA; (2011) Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. NAT GENET , 43 (2) 117 - U57. 10.1038/ng.735.


Alonso-Canovas, A; Katschnig, P; Tucci, A; Carecchio, M; Wood, NW; Edwards, M; Castrillo, JCM; (2010) Atypical Parkinsonism with Apraxia and Supranuclear Gaze Abnormalities in Type 1 Gaucher Disease. Expanding the Spectrum: Case Report and Literature Review. MOVEMENT DISORD , 25 (10) 1506 - 1509. 10.1002/mds.23109.

Bishop, MW; Chakraborty, S; Matthews, GAC; Dougalis, A; Wood, NW; Festenstein, R; Ungless, MA; (2010) Hyperexcitable Substantia Nigra Dopamine Neurons in PINK1- and HtrA2/Omi-Deficient Mice. J NEUROPHYSIOL , 104 (6) 3009 - 3020. 10.1152/jn.00466.2010.

Burchell, VS; Gandhi, S; Deas, E; Wood, NW; Abramov, AY; Plun-Favreau, H; (2010) Targeting mitochondrial dysfunction in neurodegenerative disease: Part II. EXPERT OPIN THER TAR , 14 (5) 497 - 511. 10.1517/14728221003730434.

Burchell, VS; Gandhi, S; Deas, E; Wood, NW; Abramov, AY; Plun-Favreau, H; (2010) Targeting mitochondrial dysfunction in neurodegenerative disease: Part I. EXPERT OPIN THER TAR , 14 (4) 369 - 385. 10.1517/14728221003652489.

Gandhi, S; Wood, NW; (2010) Genome-wide association studies: the key to unlocking neurodegeneration? NAT NEUROSCI , 13 (7) 789 - 794. 10.1038/nn.2584.

Heinzen, EL; Radtke, RA; Urban, TJ; Cavalleri, GL; Depondt, C; Need, AC; Walley, NM; (2010) Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes. The American Journal of Human Genetics , 86 (5) 707 - 718. 10.1016/j.ajhg.2010.03.018. Green open access

Kagi, G; Klein, C; Wood, NW; Schneider, SA; Pramstaller, PP; Tadic, V; Quinn, NP; (2010) Nonmotor Symptoms in Parkin Gene-Related Parkinsonism. MOVEMENT DISORD , 25 (9) 1279 - 1284. 10.1002/mds.22897.

Kasperaviciute, D; Catarino, CB; Heinzen, EL; Depondt, C; Cavalleri, GL; Caboclo, LO; Tate, SK; (2010) Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. BRAIN , 133 2136 - 2147. 10.1093/brain/awq130.

Mead, S; Gandhi, S; Carswell, C; Ayling, H; Beck, J; Caine, D; Gallujipali, D; (2010) Novel Truncation Mutation of PRNP Causes Chronic Diarrhoea, Sensory Neuropathy and Autonomic Failure Associated with Prion Protein Deposition in the Cerebral Blood Vessels and Small Bowel. PRION , 4 (3) 201 - 202.

Novak, MJU; Tabrizi, SJ; (2010) Huntington's disease. In: UNSPECIFIED (? - ?). B M J PUBLISHING GROUP

Pavese, N; Moore, RY; Scherfler, C; Khan, NL; Hotton, G; Quinn, NP; Bhatia, KP; (2010) In vivo assessment of brain monoamine systems in parkin gene carriers: A PET study. EXP NEUROL , 222 (1) 120 - 124. 10.1016/j.expneurol.2009.12.021.

Plun-Favreau, H; Lewis, PA; Hardy, J; Martins, LM; Wood, NW; (2010) Cancer and neurodegeneration: between the devil and the deep blue sea. PLoS Genetics , 6 (12) , Article e1001257. 10.1371/journal.pgen.1001257. Green open access

Rajakulendran, S; Graves, TD; Labrum, RW; Kotzadimitriou, D; Eunson, L; Davis, MB; Davies, R; (2010) Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. J PHYSIOL-LONDON , 588 (11) 1905 - 1913. 10.1113/jphysiol.2009.186437.

Sebastian, CL; Roiser, JP; Tan, GCY; Viding, E; Wood, NW; Blakemore, SJ; (2010) Effects of age and MAOA genotype on the neural processing of social rejection. GENES BRAIN BEHAV , 9 (6) 628 - 637. 10.1111/j.1601-183X.2010.00596.x.

Tan, GCY; Doke, TF; Ashburner, J; Wood, NW; Frackowiak, RSJ; (2010) Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2. NEUROIMAGE , 53 (3) 1030 - 1042. 10.1016/j.neuroimage.2010.02.018.

Tucci, A; Nalls, MA; Houlden, H; Revesz, T; Singleton, AB; Wood, NW; Hardy, J; (2010) Genetic variability at the PARK16 locus. EUR J HUM GENET , 18 (12) 1356 - 1359. 10.1038/ejhg.2010.125.

Yao, Z; Gandhi, S; Plun-Favreau, H; Wood, NW; Abramov, AY; (2010) PINK1 Deficiency and Mitochondrial Dysfunction in Neurons and Skeletal Myocytes. BIOPHYSICAL JOURNAL , 98 (3) 381A - 381A.


Deas, E; Plun-Favreau, H; Wood, NW; (2009) PINK1 function in health and disease. EMBO MOL MED , 1 (3) 152 - 165. 10.1002/emmm.200900024. Gold open access

Gandhi, S; Tabrizi, SJ; Wood, NW; (2009) Neurogenetics. In: Scadding, J and Losseff, N, (eds.) Clinical Neurology. Hodder Arnold

Gandhi, S; Wood-Kaczmar, A; Yao, Z; Plun-Favreau, H; Deas, E; Klupsch, K; Downward, J; (2009) PINK1-Associated Parkinson's Disease Is Caused by Neuronal Vulnerability to Calcium-induced Cell Death. MOL CELL , 33 (5) 627 - 638. 10.1016/j.molcel.2009.02.013. Gold open access

Healy, DG; Bressman, S; Dickson, J; Silveira-Moriyama, L; Schneider, SA; Sullivan, SSO; Massey, L; (2009) Evidence for Pre and Postsynaptic Nigrostriatal Dysfunction in the Fragile X Tremor-Ataxia Syndrome. MOVEMENT DISORD , 24 (8) 1245 - 1247. 10.1002/mds.22267.


Kumaran, R; Vandrovcova, J; Luk, C; Sharma, S; Renton, A; Wood, NW; Hardy, JA; (2009) Differential DJ-1 gene expression in Parkinson's disease. NEUROBIOL DIS , 36 (2) 393 - 400. 10.1016/j.nbd.2009.08.011.

Lynch, JM; Tate, SK; Kinirons, P; Weale, ME; Cavalleri, GL; Depondt, C; Murphy, K; (2009) No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy. EPILEPSY RES , 83 (1) 44 - 51. 10.1016/j.eplepsyres.2008.09.003.

Michell, AW; Laura, M; Blake, J; Lunn, MP; Cox, A; Gibbons, VS; Davis, MB; (2009) GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment. J NEUROL NEUROSUR PS , 80 (6) 699 - 700. 10.1136/jnnp.2008.150557.

Moisoi, N; Klupsch, K; Fedele, V; East, P; Sharma, S; Renton, A; Plun-Favreau, H; (2009) Mitochondrial dysfunction triggered by loss of HtrA2 results in the activation of a brain-specific transcriptional stress response. CELL DEATH DIFFER , 16 (3) 449 - 464. 10.1038/cdd.2008.166.

Neumann, J; Bras, J; Deas, E; O'Sullivan, SS; Parkkinen, L; Lachmann, RH; Li, A; (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. BRAIN , 132 1783 - 1794. 10.1093/brain/awp044. Gold open access

Neumann, J; Parkkinen, L; Bras, J; O'sullivan, SS; Deas, E; Lachmann, H; Li, A; (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 3 - 3). BLACKWELL PUBLISHING

Paisan-Ruiz, C; Bhatia, KP; Li, A; Hernandez, D; Davis, M; Wood, NW; Hardy, J; (2009) Characterization of PLA2G6 as a Locus for Dystonia-Parkinsonism. ANN NEUROL , 65 (1) 19 - 23. 10.1002/ana.21415.

Pavese, N; Khan, NL; Scherfler, C; Cohen, L; Brooks, DJ; Wood, NW; Bhatia, KP; (2009) Nigrostriatal Dysfunction in Homozygous and Heterozygous Parkin Gene Carriers: An F-18-Dopa PET Progression Study. MOVEMENT DISORD , 24 (15) 2260 - 2266. 10.1002/mds.22817.

Proukakis, C; Moore, D; Labrum, R; Wood, NW; Houlden, H; (2009) A clinical and genetic study of hereditary spastic paraplegia caused by SPAST/SPG4 mutations, including 12 new mutations. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 296 - 296). WILEY-BLACKWELL PUBLISHING, INC

Roiser, JP; de Martino, B; Tan, GCY; Kumaran, D; Seymour, B; Wood, NW; Dolan, RJ; (2009) A Genetically Mediated Bias in Decision Making Driven by Failure of Amygdala Control. J NEUROSCI , 29 (18) 5985 - 5991. 10.1523/JNEUROSCI.0407-09.2009. Gold open access

Segarane, B; Li, A; Paudel, R; Scholz, S; Neumann, J; Lees, A; Revesz, T; (2009) GLUCOCEREBROSIDASE MUTATIONS IN 108 NEUROPATHOLOGICALLY CONFIRMED CASES OF MULTIPLE SYSTEM ATROPHY. NEUROLOGY , 72 (13) 1185 - 1186. 10.1212/01.wnl.0000345356.40399.eb. Gold open access

Sharma, S; Bandopadhyay, R; Kingsbury, AE; Lashley, TC; Lees, AJ; Revesz, T; Wood, NW; (2009) LRRK2 mRNA and protein expression in Parkinson's disease cases with LRRK2 G2019S mutation. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 27 - 28). BLACKWELL PUBLISHING

Simon-Sanchez, J; Schulte, C; Bras, JM; Sharma, M; Gibbs, JR; Berg, D; Paisan-Ruiz, C; (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. NAT GENET , 41 (12) 1308 - U68. 10.1038/ng.487.

Sleiman, PMA; Healy, DG; Muqit, MMK; Yang, YX; Van der Brug, M; Holton, JL; Revesz, T; (2009) Characterisation of a novel NR4A2 mutation in Parkinson's disease brain. NEUROSCI LETT , 457 (2) 75 - 79. 10.1016/j.neulet.2009.03.021.

Trender-Gerhard, I; Sweeney, MG; Schwingenschuh, P; Mir, P; Edwards, MJ; Gerhard, A; Polke, JM; (2009) Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. J NEUROL NEUROSUR PS , 80 (8) 839 - 845. 10.1136/jnnp.2008.155861.

Vandrovcova, J; Pittman, AM; Malzer, E; Abou-Sleiman, PM; Lees, AJ; Wood, NW; de Silva, R; (2009) Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease. NEUROBIOL AGING , 30 (9) 1477 - 1482. 10.1016/j.neurobiolaging.2007.11.019.

Wood, N; (2009) Cerebellar ataxias and related conditions. In: Clarke, C and Howard, R and Rossor, M and Shorvon, S, (eds.) Neurology: a Queen Square textbook. (pp. 629-643). Wiley-Blackwell: Chichester.

Wood-Kaczmar, A; Gandhi, S; Yao, Z; Abramov, AY; Miljan, EA; Keen, G; Stanyer, L; (2009) PINK1 is necessary for long term survival and mitochondrial function in primary human dopaminergic neurons. In: JOURNAL OF NEUROCHEMISTRY. (pp. 301 - 302). WILEY-BLACKWELL PUBLISHING, INC

Yang, YX; Wood, NW; Latchman, DS; (2009) Molecular basis of Parkinson's disease. NEUROREPORT , 20 (2) 150 - 156. 10.1097/WNR.0b013e32831c50df.

Yao, Z; Bandopadhyay, R; Muqit, MMK; Holton, JL; Wood, NW; (2009) Putative LRRK2 (PARK8) substrates: ERM proteins are present in Lewy bodies and are up-regulated in Parkinson's disease brains. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 28 - 28). BLACKWELL PUBLISHING

Yao, Z; Klupsh, K; Hargreaves, I; Downward, J; Heales, S; Revesz, T; Holton, J; (2009) Characterisation of PINK1 knockout mice. In: JOURNAL OF NEUROCHEMISTRY. (pp. 300 - 300). WILEY-BLACKWELL PUBLISHING, INC

Yao, Z; Wood, NW; (2009) Cell Death Pathways in Parkinson's Disease: Role of Mitochondria. ANTIOXID REDOX SIGN , 11 (9) 2135 - 2149. 10.1089/ars.2009.2624.

da Costa, CA; Sunyach, C; Giaime, E; West, A; Corti, O; Brice, A; Safe, S; (2009) Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. NAT CELL BIOL , 11 (11) 1370 - U255. 10.1038/ncb1981.


Gilman, S; Wenning, GK; Low, PA; Brooks, DJ; Mathias, CJ; Trojanowski, JQ; Wood, NW; (2008) Second consensus statement on the diagnosis of multiple system atrophy. NEUROLOGY , 71 (9) 670 - 676.

Healy, DG; Falchi, M; O'Sullivan, SS; Bonifati, V; Durr, A; Bressman, S; Brice, A; (2008) Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. LANCET NEUROL , 7 (7) 583 - 590. 10.1016/S1474-4422(08)70117-0. Gold open access

Healy, DG; Wood, NW; Schapira, AH; (2008) Test for LRRK2 mutations in patients with Parkinson's disease. Pract Neurol , 8 (6) pp. 381-385. 10.1136/jnnp.2008.162420.

Holton, JL; Schneider, SA; Ganesharajah, T; Gandhi, S; Strand, C; Shashidharan, P; Barreto, J; (2008) Neuropathology of primary adult-onset dystonia. NEUROLOGY , 70 (9) 695 - 699.

Holton, JL; Schneider, SA; Ganesharajah, T; Gandhi, S; Strand, C; Shashidharan, P; Barreto, J; (2008) Neuropathology of primary adult onset non-DYT1 dystonia. In: JOURNAL OF NEUROLOGY. (pp. 98 - 98). DR DIETRICH STEINKOPFF VERLAG

Houlden, H; Johnson, J; Gardner-Thorpe, C; Lashley, T; Hernandez, D; Singleton, AB; Holton, J; (2008) Tau tubulin kinase 2, implicated by tau phosphorylation, contains mutations that segregate with spinocerebellar ataxia type II. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. 344 - 344). B M J PUBLISHING GROUP

Houlden, H; Laura, M; Wavrant-De Vrieze, F; Blake, J; Wood, N; Reilly, MM; (2008) Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. NEUROLOGY , 71 (21) 1660 - 1668. 10.1212/01.wnl.0000319696.14225.67.

Johnson, J; Wood, N; Giunti, P; Houlden, H; (2008) Clinical and genetic analysis of spinocerebellar ataxia type 11. CEREBELLUM , 7 (2) 159 - 164. 10.1007/s12311-008-0022-3.

Kagi, G; Klein, C; Wood, NW; Schneider, SA; Pramstaller, PP; Tadic, V; Quinn, NP; (2008) Non-motor symptoms in parkin gene-related parkinsonism. In: MOVEMENT DISORDERS. (pp. S352 - S352). WILEY-LISS

Lashley, T; Holton, JL; Gray, E; Kirkham, K; O'Sullivan, SS; Hilbig, A; Wood, NW; (2008) Cortical alpha-synuclein load is associated with amyloid-beta plaque burden in a subset of Parkinson's disease patients. ACTA NEUROPATHOL , 115 (4) 417 - 425. 10.1007/s00401-007-0336-0.

Lashley, T; Revesz, T; Plant, G; Bandopadhyay, R; Lees, AJ; Frangione, B; Wood, NW; (2008) Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease. NEUROPATH APPL NEURO , 34 (5) 492 - 505. 10.1111/j.1365-2990.2008.00935.x. Gold open access

Mortiboys, H; Thomas, KJ; Koopman, WJH; Klaffke, S; Abou-Sleiman, P; Olpin, S; Wood, NW; (2008) Mitochondrial Function and Morphology Are Impaired in parkin-Mutant Fibroblasts. ANN NEUROL , 64 (5) 555 - 565. 10.1002/ana.21492.

Muqit, MMK; Larner, AJ; Sweeney, MG; Sewry, C; Stinton, VJ; Davis, MB; Healy, DG; (2008) Multiple mitochondrial DNA deletions in monozygotic twins with OPMD. J NEUROL NEUROSUR PS , 79 (1) 68 - 71. 10.1136/jnnp.2006.112250.

Paisan-Ruiz, C; Nath, P; Wood, NW; Singleton, A; Houlden, H; (2008) Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). EUR J NEUROL , 15 (10) 1065 - 1070. 10.1111/j.1468-1331.2008.02247.x.

Pavese, N; Khan, NL; Wood, NW; Quinn, NP; Lees, AJ; Brooks, DJ; Piccini, P; (2008) Nigrostriatal dysfunction in parkin linked parkinsonism and asymptomatic heterozygous carriers: A progressive study with 18-dopa pet. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. 341 - 341). B M J PUBLISHING GROUP

Pittman, A; de Silva, R; Lees, AJ; Wood, NW; (2008) Genetics of progressive supranuclear palsy. In: UNSPECIFIED (pp. 475-485).

Plun-Favreau, H; Gandhi, S; Wood-Kaczmar, A; Deas, E; Yao, Z; Wood, NW; (2008) What Have PINK1 and HtrA2 Genes Told Us about the Role of Mitochondria in Parkinson's Disease? MITOCHONDRIA AND OXIDATIVE STRESS IN NEURODEGENERATIVE DISORDERS , 1147 30 - 36. 10.1196/annals.1427.032.

Schneider, SA; Talelli, P; Cheeran, BJ; Khan, NL; Wood, NW; Rothwell, JC; Bhatia, KP; (2008) Motor Cortical Physiology in Patients and Asymptomatic Carriers of Parkin Gene Mutations. MOVEMENT DISORD , 23 (13) 1812 - 1819. 10.1002/mds.22025.

Silveira-Moriyama, L; Guedes, LC; Kingsbury, A; Ayling, H; Shaw, K; Barbosa, ER; Bonifati, V; (2008) Hyposmia in G2019S LRRK2-related parkinsonism - Clinical and pathologic data. NEUROLOGY , 71 (13) 1021 - 1026.

Trender-Gerhard, I; Sweeney, MG; Schwingenschuh, P; Mir, P; Edwards, MJ; Gerhard, A; Davis, MB; (2008) Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome in 34 patients. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 17 - 17). BLACKWELL PUBLISHING

Wood-Kaczmar, A; Gandhi, S; Yao, Z; Abramov, ASY; Miljan, EA; Keen, G; Stanyer, L; (2008) PINK1 Is Necessary for Long Term Survival and Mitochondrial Function in Human Dopaminergic Neurons. PLOS ONE , 3 (6) , Article e2455. 10.1371/journal.pone.0002455. Green open access


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Cavalleri, GL; Weale, ME; Shianna, KV; Singh, R; Lynch, JM; Grinton, B; Szoeke, C; (2007) Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. LANCET NEUROL , 6 (11) 970 - 980. 10.1016/Sl474-4422(07)70247-8.

Giunti, P; Wood, N; (2007) The inherited ataxias. ACNR , 7 (5) pp. 18-21.

Heinzen, EL; Yoon, W; Tate, SK; Sen, A; Wood, NW; Sisodiya, SM; Goldstein, DB; (2007) Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. AM J HUM GENET , 80 (5) 876 - 883. 10.1086/516650.

Heinzen, EL; Yoon, W; Weale, ME; Sen, A; Wood, NW; Burke, JR; Welsh-Bohmer, KA; (2007) Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease. GENOME BIOL , 8 (3) , Article R32. 10.1186/gb-2007-8-3-r32.

Houlden, H; Johnson, J; Gardner-Thorpe, C; Lashley, T; Hernandez, D; Worth, P; Singleton, AB; (2007) Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. NAT GENET , 39 (12) 1434 - 1436. 10.1038/ng.2007.43.

Kasperaviciute, D; Weale, ME; Shianna, KV; Banks, GT; Simpson, CL; Hansen, VK; Turner, MR; (2007) Large-scale pathways-based association study in amyotrophic lateral sclerosis. BRAIN , 130 2292 - 2301. 10.1093/brain/awm055.

Khan, NL; Bhatt, M; Brooks, DJ; Korlipara, P; Schapira, A; Piccini, P; Wood, NW; (2007) An Indian kindred with reversible dystonia and parkinsonism. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. 210 - 210). B M J PUBLISHING GROUP

Limaye, N; Revencu, N; Van Regemorter, N; Garzon, M; Bonduelle, M; Chung, W; Daras, MD; (2007) Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. Hum Genet , 122 (5) 552-.

McKenzie, M; Liolitsa, D; Akinshina, N; Campanella, M; Sisodiya, S; Hargreaves, I; Nirmalananthan, N; (2007) Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption. J BIOL CHEM , 282 (51) 36845 - 36852. 10.1074/jbc.M704158200. Gold open access

Plun-Favreau, H; Klupsch, K; Moisoi, N; Gandhi, S; Kjaer, S; Frith, D; Harvey, K; (2007) The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1. NAT CELL BIOL , 9 (11) 1243 - U63. 10.1038/ncb1644.

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van de Warrenburg, BPC; Giunti, P; Schneider, SA; Quinn, NP; Wood, NW; Bhatia, KP; (2007) The syndrome of (predominantly cervical) dystonia and cerebellar ataxia: new cases indicate a distinct but heterogeneous entity. J NEUROL NEUROSUR PS , 78 (7) 774 - 775. 10.1136/jnnp.2006.105841.


Abou-Sleiman, PM; Hanna, MG; Wood, NW; (2006) Genetic association studies of complex neurological diseases. J NEUROL NEUROSUR PS , 77 (12) 1302 - 1304. 10.1136/jnnp.2005.082024.

Abou-Sleiman, PM; Muqit, MMK; McDonald, NQ; Yang, YX; Gandhi, S; Healy, DG; Harvey, K; (2006) A heterozygous effect for PINK1 mutations in Parkinson's disease? ANN NEUROL , 60 (4) 414 - 419. 10.1002/ana.20960.

Abou-Sleiman, PM; Muqit, MMK; McDonald, NQ; Yang, YX; Gandhi, S; Healy, DG; Harvey, K; (2006) A heterozygous effect for PINK1 mutations in Parkinson's disease? ANN NEUROL , 60 (4) pp. 414-419. 10.1002/ana.20960.

Abou-Sleiman, PM; Muqit, MMK; Wood, NW; (2006) Expanding insights of mitochondrial dysfunction in Parkinson's disease. NAT REV NEUROSCI , 7 (3) 207 - 219. 10.1038/nrn1868.

Gandhi, S; Muqit, MMK; Abou-Sleiman, PM; Stanyer, L; Hargreaves, I; Heales, S; Ganguly, M; (2006) PINK1: a novel mitochondrial protein in Parkinson's disease. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 221 - 222). BLACKWELL PUBLISHING

Gandhi, S; Muqit, MMK; Stanyer, L; Healy, DG; Abou-Sleiman, PM; Hargreaves, I; Heales, S; (2006) PINK1 protein in normal human brain and Parkinson's disease. BRAIN , 129 1720 - 1731. 10.1093/brain/awl114.

Graves, TD; Schorge, S; Davies, RA; Wood, NW; Kullmann, DM; Hanna, MG; (2006) The role of the brain P/Q-type calcium channel in human epilepsy. EUR J NEUROL , 13 313 - 313.

Healy, DG; Abou-Sleiman, PM; Ahmadi, KR; Gandhi, S; Muqit, MM; Bhatia, KP; Quinn, NP; (2006) NR4A2 genetic variation in sporadic Parkinson's disease: A genewide approach. MOVEMENT DISORD , 21 (11) 1960 - 1963. 10.1002/mds.21018.

Healy, DG; Abou-Sleiman, PM; Casas, JP; Ahmadi, KR; Lynch, T; Gandhi, S; Muqit, MMK; (2006) UCHL-1 is not a Parkinson's disease susceptibility gene. ANN NEUROL , 59 (4) 627 - 633. 10.1002/ana.20757.

Hu, MTM; Scherfle, C; Khan, NL; Hajnal, JV; Lees, AJ; Quinn, N; Wood, NW; (2006) Nigral degeneration and striatal dopaminergic dysfunction in idiopathic and Parkin-linked Parkinson's disease. MOVEMENT DISORD , 21 (3) 299 - 305. 10.1002/mds.20702.

Kinirons, P; Cavalleri, GL; Shahwan, A; Wood, NW; Goldstein, DB; Sisodiya, SM; Delanty, N; (2006) Examining the role of common genetic variation in the gamma 2 subunit of the GABA(A) receptor in epilepsy using tagging SNPs. EPILEPSY RES , 70 (2-3) 229 - 238. 10.1016/j.eplepsyres.2005.05.009.

Kinirons, P; Cavalleri, GL; Shahwan, A; Wood, NW; Goldstein, DB; Sisodiya, SM; Delanty, N; (2006) Examining the role of common genetic variation in the gamma2 subunit of the GABA(A) receptor in epilepsy using tagging SNPs. Epilepsy Res , 70 (2-3) pp. 229-238. 10.1016/j.eplepsyres.2006.05.009.

Kinirons, P; Cavalleri, GL; Singh, R; Shahwan, A; Acheson, JF; Wood, NW; Goldstein, DB; (2006) A pharmacogenetic exploration of vigabatrin-induced visual field constriction. EPILEPSY RES , 70 (2-3) 144 - 152. 10.1016/j.eplepsyres.2006.03.012.

Muqit, MMK; Abou-Sleiman, PM; Saurin, AT; Harvey, K; Gandhi, S; Deas, E; Eaton, S; (2006) Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress. J NEUROCHEM , 98 (1) 156 - 169. 10.1111/j.1471-4159.2006.03845.x.

Muqit, MMK; Gandhi, S; Wood, NW; (2006) Mitochondria in Parkinson disease - Back in fashion with a little help from genetics. ARCH NEUROL-CHICAGO , 63 (5) 649 - 654.

Ozawa, T; Healy, DG; Abou-Sleiman, PM; Ahmadi, KR; Quinn, N; Lees, AJ; Shaw, K; (2006) The alpha-synuclein gene in multiple system atrophy. J NEUROL NEUROSUR PS , 77 (4) 464 - 467. 10.1136/jnnp.2005.073528.

Schmitt, I; Wullner, U; Healy, DG; Wood, NW; Kolsch, H; Henn, R; (2006) The ADH1C stop mutation in multiple system atrophy patients and healthy probands in the United Kingdom and Germany. MOVEMENT DISORD , 21 (11) 2034 - 2034. 10.1002/mds.21082.

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Schneider, SA; van de Warrenburg, BPC; Hughes, TD; Davis, M; Sweeney, M; Wood, N; Quinn, NP; (2006) Phenotypic homogeneity of the Huntington disease - like presentation in a SCA17 family. NEUROLOGY , 67 (9) 1701 - 1703.

Sharma, M; Mueller, JC; Zimprich, A; Lichtner, P; Hofer, A; Leitner, P; Maass, S; (2006) The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. J MED GENET , 43 (7) 557 - 562. 10.1136/jmg.2005.039149.

Wood, NW; (2006) Pharmacogenetic approaches to neurological disease - Epilepsy as an example. EUR J NEUROL , 13 1 - 1.

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Bandopadhyay, R; Kingsbury, AE; Muqit, MM; Harvey, K; Reid, AR; Kilford, L; Engelender, S; (2005) Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibition. NEUROBIOL DIS , 20 (2) 401 - 411. 10.1016/j.nbd.2005.03.021.

Cavalleri, GL; Lynch, JM; Depondt, C; Burley, MW; Wood, NW; Sisodiya, SM; Goldstein, DB; (2005) Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here? BRAIN , 128 1832 - 1840. 10.1093/brain/awh524.

Cavallieri, GL; Kinirons, P; Shahwan, A; McCarthy, M; Doherty, CP; Wood, NW; Sisodiya, S; (2005) Genetic variation in GABAG2 - Lessons to be learned from association studies in two large epilepsy cohorts. In: EPILEPSIA. (pp. 366 - 366). BLACKWELL PUBLISHING

Depondt, C; Cavalleri, GL; Shorvon, SD; Wood, NW; Sisodiya, SM; Goldstein, DB; (2005) Association study of five sodium channel genes in epilepsy and antiepileptic drug response. In: EPILEPSIA. (pp. 90 - 91). BLACKWELL PUBLISHING

Gandhi, S; Abou-Sleiman, PM; Healy, DG; Weale, M; Gilks, W; Ahmadi, K; Goldstein, DB; (2005) Population genetic approaches to neurological disease: Parkinson's disease as an example. PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES , 360 (1460) 1573 - 1578. 10.1098/rstb.2005.1687. Gold open access

Gandhi, S; Muqit, M; Ganguly, M; Abou-Sleiman, PM; Wood, NW; Holton, JL; Revesz, T; (2005) PINK1 protein distribution in normal human brain and Parkinson's disease. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 221 - 222). BLACKWELL PUBLISHING LTD

Gandhi, S; Wood, NW; (2005) Molecular pathogenesis of Parkinson's disease. Hum Mol Genet , 14 Spe pp. 2749-2755.

Gandhi, S; Wood, NW; (2005) Molecular pathogenesis of Parkinson's disease. Hum Mol Genet , 14 (18) pp. 2749-2755. 10.1093/hmg/ddi308.

Geser, F; Seppi, K; Stampfer-Kountchev, M; Kollensperger, M; Diem, A; Ndayisaba, JP; Ostergaard, K; (2005) The European Multiple System Atrophy-Study Group (EMSA-SG). JOURNAL OF NEURAL TRANSMISSION , 112 (12) 1677 - 1686. 10.1007/s00702-005-0328-y.

Gilks, W.P.; Abou-Sleiman, P.M.; Gandhi, S.; Jain, S.; Singleton, A.; Lees, A.J.; Shaw, K.; (2005) A common LRRK2 mutation in idiopathic Parkinson's disease. The Lancet , 365 (9457) pp. 415-416. 10.1016/S0140-6736(05)17830-1.

Gilks, WP; Abou-Sleiman, PM; Gandhi, S; Jain, S; Singleton, A; Lees, AJ; Shaw, K; (2005) Common LRRK2 mutation in idiopathic Parkinson's disease. LANCET , 365 (9457) 415 - 416.

Healy, DG; Abou-Sleiman, PM; Quinn, N; Ahmadi, KR; Ozawa, T; Kamm, C; Wullner, U; (2005) UCHL-1 gene in multiple system atrophy: A haplotype tagging approach. MOVEMENT DISORD , 20 (10) 1338 - 1343. 10.1002/mds.20575.

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Jain, S; Wood, NW; Healy, DG; (2005) Molecular genetic pathways in Parkinson's disease: a review. Clin Sci (Lond) , 109 (4) pp. 355-364. 10.1042/CS20050106.

Kamm, C; Healy, DG; Quinn, NP; Wullner, U; Moller, JC; Schols, L; Geser, F; (2005) The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. BRAIN , 128 1855 - 1860. 10.1093/brain/awh535.

Khan, NL; Giunti, P; Sweeney, MG; Scherfler, C; Brien, MO; Piccini, P; Wood, NW; (2005) Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6). MOVEMENT DISORD , 20 (9) 1115 - 1119. 10.1002/mds.20564.

Khan, NL; Horta, W; Eunson, L; Graham, E; Johnson, JO; Chang, S; Davis, M; (2005) Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years. MOVEMENT DISORD , 20 (4) 479 - 484. 10.1002/mds.20335.

Khan, NL; Jain, S; Lynch, JM; Pavese, N; Abou-Sleiman, P; Holton, JL; Healy, DG; (2005) Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. BRAIN , 128 2786 - 2796. 10.1093/brain/awh667.

Khan, NL; Scherfler, C; Graham, E; Bhatia, KP; Quinn, N; Lees, AJ; Brooks, DJ; (2005) Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation. NEUROLOGY , 64 (1) 134 - 136.

Liolitsa, D; McKenzie, M; Hargreaves, I; Heales, S; Land, J; Sisodiya, SM; Wood, NW; (2005) MELAS, a young-onset stroke disorder associated with a homoplasmic ND5 mitochondrial DNA mutation. EUR J NEUROL , 12 158 - 159.

Martinez, M; Brice, A; Vaughan, JR; Zimprich, A; Breteler, MMB; Meco, G; Filla, A; (2005) Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease. AM J MED GENET B , 136B (1) 72 - 74. 10.1002/ajmg.b.30196.

Morris, HR; Wood, NW; Lees, AJ; (2005) Progressive supranuclear palsy (Steele-Richardson-Olszewski disease). In: Morris, H, (ed.) Neurology update: reviews for continuing professional development. (pp. 185-196). Radcliffe Publishing: Oxford.

Ozawa, T; Paviour, D; Quinn, NP; Lees, AJ; Josephs, KA; Healy, DG; Wood, NW; (2005) The spectrum of pathological involvement of multiple system atrophy (MSA): clinicopathological correlations. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 244 - 244). BLACKWELL PUBLISHING LTD

Pittman, AM; Myers, AJ; Abou-Sleiman, P; Fung, HC; Kaleem, M; Marlowe, L; Duckworth, J; (2005) Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J MED GENET , 42 (11) 837 - 846. 10.1136/jmg.2005.031377. Gold open access

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Sisodiya, S; Soranzo, N; Wood, NW; Goldstein, DB; (2005) Association of genetic loci: replication or not, that is the question. Neurology , 64 (11) 1989-.

Stumpf, MPH; Goldstein, DB; Wood, NW; (2005) Introduction: genetic variation and human health. PHILOS T R SOC B , 360 (1460) 1539 - 1541. 10.1098/rstb.2005.1694.

Tate, SK; Depondt, C; Sisodiya, SM; Cavalleri, GL; Schorge, S; Soranzo, N; Thom, M; (2005) Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. P NATL ACAD SCI USA , 102 (15) 5507 - 5512. 10.1073/pnas.0407346102. Gold open access

Wood, NW; Healy, DG; Depondt, C; Abou-Sleiman, PM; (2005) Commentary on "A genome wide linkage disequilibrium screen in Parkinson's disease" By Foltynie et al. in J Neurol (2005)252:597-602. J NEUROL , 252 (5) 603 - 604. 10.1007/s00415-005-0707-1.


Abou-Sleiman, PM; Healy, DG; Wood, NW; (2004) Causes of Parkinson's disease: genetics of DJ-1. CELL TISSUE RES , 318 (1) 185 - 188. 10.1007/s00441-004-0922-6.

Abou-Sleiman, PM; Healy, DG; Wood, NW; (2004) Genetic approaches to solving common diseases. J NEUROL , 251 (10) 1169 - 1172. 10.1007/s00415-004-0518-9.

Ansorge, O; Giunti, P; Michalik, A; Van Broeckhoven, C; Harding, B; Wood, N; Scaravilli, F; (2004) Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats. ANN NEUROL , 56 (3) 448 - 452.

Bandopadhyay, R; Kingsbury, AE; Cookson, MR; Reid, AR; Evans, IM; Hope, AD; Pittman, AM; (2004) The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. BRAIN , 127 420 - 430. 10.1093/brain/awh054.

Beck, J.A.; Poulter, M.; Campbell, T.A.; Uphill, J.B.; Adamson, G.; Geddes, J.F.; Revesz, T.; (2004) Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease. Human Molecular Genetics , 13 (12) pp. 1219-1224. 10.1093/hmg/ddh134.

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