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Leonard Wolfson Experimental Neurology Centre (LWENC)

The new Leonard Wolfson Experimental Neurology Centre (LWENC) has opened for clinical studies and trials

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Audioslide presentation on Claudia Manzoni's paper examining how fibroblasts with LRRK2 mutations react to starvation conditions and the possible deficits that they have in autophagy.

LRRK2 and autophagy in fibroblasts

In this paper Claudia Manzoni studies how fibroblast cells from people with Parkinson’s disease caused by mutations in LRRK2 react to starvation. Although the changes are quite subtle, there are differences between the way that fibroblasts that contain mutant LRRK2 respond to being starved – suggesting that there may be changes in the way that these cells regulate a key process called autophagy (a term which comes from the greek meaning to eat yourself, and is one of the ways that cells get rid of waste and recycle proteins and organellles).
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Drosophila fly model - University of Sheffield

Genetic mutations linked to Parkinson's disease

Research led by consortium researchers Dr Helene Plun-Favreau (UCL Institute of Neurology) and Dr Alex Whitworth (University of Sheffield), and collaborator Dr Heike Laman (University of Cambridge), has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments. In the new study, published in Nature Neuroscience, the team of cross-institutional researchers showed how defects in the Parkinson’s gene Fbxo7 cause problems with mitophagy. More...

Autophagy

LRRK2 and autophagy

Mutations in LRRK2 are the most common genetic cause of Parkinson’s disease. Here, Claudia Manzoni talks about her research (funded by the Rosetrees Trust and the Michael J. Fox Foundation) into what LRRK2 might be doing within the cell: Parkinson’s disease is a brain illness that afflicts 1 in 500 people in the UK. High profile patients, such as the actor Michael J Fox, the boxer Muhammad Ali and the late Pope John Paul II, have raised public awareness of Parkinson’s and its devastating impact. More...

GBA neurons

GBA and mitochondria

Dr Laura Osellame tells us about her recent paper in Cell Metabolism about Mitochondrial dysfunction linked to loss of an enzyme called GBA: Gaucher Disease (GD) is a rare inherited disease, belonging to the family of lysosomal storage disorders. Mutations in the gene glucocerebrosidase (GBA) are responsible for the disease and can increase susceptibility to Parkinson’s disease (PD). Genetic studies undertaken at UCL and other hospitals around the world suggest that mutations in GBA are the most common genetic risk factor currently known for PD. More...

Publications

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2014

Benitez, B., Jin, S., Guerreiro, R., Graham, R., Lord, J., Harold, D., Sims, R., Lambert, J., Gibbs, J., Bras, J., Sassi, C., Harari, O., Bertelsen, S., Lupton, M., Powell, J., Bellenguez, C., Brown, K., Medway, C., Haddick, P., van der Brug, M., Bhangale, T., Ortmann, W., Behrens, T., Mayeux, R., Pericak-Vance, M., Farrer, L., Schellenberg, G., Haines, J., Turton, J., Braae, A., Barber, I., Fagan, A., Holtzman, D., Morris, J., The 3C Study Group, the EADI consortium, the Alzheimer's Disease Genetic Consortium (ADGC), Alzheimer's Disease Neuroimaging Initiative (ADNI), the GERAD Consortium, Williams, J., Kauwe, J., Amouyel, P., Morgan, K., Singleton, A., Hardy, J., Goate, A., Cruchaga, C., 2014. Missense variant in TREML2 protects against Alzheimer’s disease. Neurobiol Aging 35, 1510.e19–26.

Charlesworth, G., Bhatia, K., Wood, N., 2014. No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia. Mov Disord 29, 154–155.

Compta, Y., Parkkinen, L., Kempster, P., Selikhova, M., Lashley, T., Holton, J., Lees, A., Revesz, T., 2014. The significance of a-synuclein, amyloid-ß and tau pathologies in Parkinson’s disease progression and related dementia. Neurodegener Dis 13, 154–156.

Cruchaga, C., Karch, C., Jin, S., Benitez, B., Cai, Y., Guerreiro, R., Harari, O., Norton, J., Budde, J., Bertelsen, S., Jeng, A., Cooper, B., Skorupa, T., Carrell, D., Levitch, D., Hsu, S., Choi, J., Ryten, M., UK Brain Expression Consortium (UKBEC), Hardy, J., Ryten, M., Trabzuni, D., Weale, M., Ramasamy, A., Smith, C., Sassi, C., Bras, J., Gibbs, J., Hernandez, D., Lupton, M., Powell, J., Forabosco, P., Ridge, P., Corcoran, C., Tschanz, J., Norton, M., Munger, R., Schmutz, C., Leary, M., Demirci, F., Bamne, M., Wang, X., Lopez, O., Ganguli, M., Medway, C., Turton, J., Lord, J., Braae, A., Barber, I., Brown, K., null, Passmore, P., Craig, D., Johnston, J., McGuinness, B., Todd, S., Heun, R., Kölsch, H., Kehoe, P., Hooper, N., Vardy, E., Mann, D., Pickering-Brown, S., Brown, K., Kalsheker, N., Lowe, J., Morgan, K., David Smith, A., Wilcock, G., Warden, D., Holmes, C., Pastor, P., Lorenzo-Betancor, O., Brkanac, Z., Scott, E., Topol, E., Morgan, K., Rogaeva, E., Singleton, A., Hardy, J., Kamboh, M., St George-Hyslop, P., Cairns, N., Morris, J., Kauwe, J., Goate, A., 2014. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease. Nature 505, 550–554.

Gómez-Sánchez, R., Gegg, M., Bravo-San Pedro, J., Niso-Santano, M., Alvarez-Erviti, L., Pizarro-Estrella, E., Gutiérrez-Martín, Y., Alvarez-Barrientos, A., Fuentes, J., González-Polo, R., Schapira, A., 2014. Mitochondrial impairment increases FL-PINK1 levels by calcium-dependent gene expression. Neurobiol Dis.

Kara, E., Xiromerisiou, G., Spanaki, C., Bozi, M., Koutsis, G., Panas, M., Dardiotis, E., Ralli, S., Bras, J., Letson, C., Edsall, C., Pliner, H., Arepalli, S., Kalinderi, K., Fidani, L., Bostantjopoulou, S., Keller, M., Wood, N., Hardy, J., Houlden, H., Stefanis, L., Plaitakis, A., Hernandez, D., Hadjigeorgiou, G., Nalls, M., Singleton, A., 2014. Assessment of Parkinson’s disease risk loci in Greece. Neurobiol Aging 35, 442.e9–442.e16.

Kefalopoulou, Z., Politis, M., Piccini, P., Mencacci, N., Bhatia, K., Jahanshahi, M., Widner, H., Rehncrona, S., Brundin, P., Björklund, A., Lindvall, O., Limousin, P., Quinn, N., Foltynie, T., 2014. Long-term Clinical Outcome of Fetal Cell Transplantation for Parkinson Disease: Two Case Reports. JAMA Neurol 71, 83–87.

Ling, H., Kara, E., Revesz, T., Lees, A., Plant, G., Martino, D., Houlden, H., Hardy, J., Holton, J., 2014. Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer. Acta Neuropathol Commun 2, 24.

Ludtmann, M., Angelova, P., Zhang, Y., Abramov, A., Dinkova-Kostova, A., 2014. Nrf2 affects the efficiency of mitochondrial fatty acid oxidation. Biochem J 457, 415–424.

McNeill, A., Magalhaes, J., Shen, C., Chau, K., Hughes, D., Mehta, A., Foltynie, T., Cooper, J., Abramov, A., Gegg, M., Schapira, A., 2014. Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain.

Sheerin, U., Schneider, S., Carr, L., Deuschl, G., Hopfner, F., Stamelou, M., Wood, N., Bhatia, K., 2014. ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology.

Stamelou, M., Charlesworth, G., Cordivari, C., Schneider, S., Kägi, G., Sheerin, U., Rubio-Agusti, I., Batla, A., Houlden, H., Wood, N., Bhatia, K., 2014. The phenotypic spectrum of DYT24 due to ANO3 mutations. Mov Disord.

Tufi, R., Gandhi, S., de Castro, I., Lehmann, S., Angelova, P., Dinsdale, D., Deas, E., Plun-Favreau, H., Nicotera, P., Abramov, A., Willis, A., Mallucci, G., Loh, S., Martins, L., 2014. Enhancing nucleotide metabolism protects against mitochondrial dysfunction and neurodegeneration in a PINK1 model of Parkinson’s disease. Nat Cell Biol 16, 157–166.

Wiethoff, S., Xiromerisiou, G., Bettencourt, C., Kioumi, A., Tsiptsios, I., Tychalas, A., Evaggelia, M., George, K., Makris, V., Hardy, J., Houlden, H., 2014. Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis. J Neurol Sci.

   

2013

Alvarez-Erviti, L., Seow, Y., Schapira, A., Rodriguez-Oroz, M., Obeso, J., Cooper, J., 2013. Influence of microRNA deregulation on chaperone-mediated autophagy and a-synuclein pathology in Parkinson’s disease. Cell Death Dis 4, e545. 

Angeli, A., Mencacci, N., Duran, R., Aviles-Olmos, I., Kefalopoulou, Z., Candelario, J., Rusbridge, S., Foley, J., Pradhan, P., Jahanshahi, M., Zrinzo, L., Hariz, M., Wood, N., Hardy, J., Limousin, P., Foltynie, T., 2013. Genotype and phenotype in Parkinson’s disease: Lessons in heterogeneity from deep brain stimulation. Mov Disord.

Bartolome, F., Wu, H., Burchell, V., Preza, E., Wray, S., Mahoney, C., Fox, N., Calvo, A., Canosa, A., Moglia, C., Mandrioli, J., Chiò, A., Orrell, R., Houlden, H., Hardy, J., Abramov, A., Plun-Favreau, H., 2013. Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels. Neuron 78, 57–64.

Batla, A., Stamelou, M., Mencacci, N., Schapira, A., Bhatia, K., 2013. Ropinirole monotherapy induced severe reversible dyskinesias in Parkinson’s disease. Mov Disord.

Bettencourt, C., Morris, H., Singleton, A., Hardy, J., Houlden, H., 2013. Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. J Neurol.

Bras, J., 2013. Lysosomal storage disorders and iron. Int Rev Neurobiol 110, 251–275.

Burchell, V., Nelson, D., Sanchez-Martinez, A., Delgado-Camprubi, M., Ivatt, R., Pogson, J., Randle, S., Wray, S., Lewis, P., Houlden, H., Abramov, A., Hardy, J., Wood, N., Whitworth, A., Laman, H., Plun-Favreau, H., 2013. The Parkinson’s disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nat Neurosci 16, 1257–1265.

Charlesworth, G., Bhatia, K., 2013. Primary and secondary dystonic syndromes: an update. Curr Opin Neurol 26, 406–412.

Charlesworth, G., Bhatia, K., Wood, N., 2013. The genetics of dystonia: new twists in an old tale. Brain 136, 2017–2037.

Charlesworth, G., Mohire, M., Schneider, S., Stamelou, M., Wood, N., Bhatia, K., 2013. Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology 81, 1148–1151.

Chau, K., Cooper, J., Schapira, A., 2013. Pramipexole Reduces Phosphorylation of a-Synuclein at Serine-129. J Mol Neurosci

Cheshire, P., Bertram, K., Ling, H., O’Sullivan, S., Halliday, G., McLean, C., Bras, J., Foltynie, T., Storey, E., Williams, D., 2013. Influence of Single Nucleotide Polymorphisms in COMT, MAO-A and BDNF Genes on Dyskinesias and Levodopa Use in Parkinson’s Disease. Neurodegener Dis.

Cleeter, M., Chau, K., Gluck, C., Mehta, A., Hughes, D., Duchen, M., Wood, N., Hardy, J., Mark Cooper, J., Schapira, A., 2013. Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage. Neurochem Int 62, 1–7.

Cohen, P., Alessi, D., 2013. Kinase drug discovery--what’s next in the field? ACS Chem Biol 8, 96–104.

Cooper-Knock, J., Frolov, A., Highley, J., Charlesworth, G., Kirby, J., Milano, A., Hartley, J., Ince, P., McDermott, C., Lashley, T., Revesz, T., Shaw, P., Wood, N., Bandmann, O., 2013. C9ORF72 expansions, parkinsonism, and Parkinson disease: A clinicopathologic study. Neurology 81, 808–811.

Davies, P., Hinkle, K., Sukar, N., Sepulveda, B., Mesias, R., Serrano, G., Alessi, D., Beach, T., Benson, D., White Iii, C., Cowell, R., Das, S., West, A., Melrose, H., 2013. Comprehensive Characterization and Optimization of Leucine Rich Repeat Kinase 2 (LRRK2) Monoclonal Antibodies. Biochem J.

Delbroek, L., Van Kolen, K., Steegmans, L., da Cunha, R., Mandemakers, W., Daneels, G., De Bock, P., Zhang, J., Gevaert, K., De Strooper, B., Alessi, D., Verstreken, P., Moechars, D., 2013. Development of an enzyme-linked immunosorbent assay for detection of cellular and in vivo LRRK2 S935 phosphorylation. J Pharm Biomed Anal 76, 49–58.

Deng, X., Elkins, J., Zhang, J., Yang, Q., Erazo, T., Gomez, N., Choi, H., Wang, J., Dzamko, N., Lee, J., Sim, T., Kim, N., Alessi, D., Lizcano, J., Knapp, S., Gray, N., 2013. Structural determinants for ERK5 (MAPK7) and leucine rich repeat kinase 2 activities of benzo[e]pyrimido-[5,4-b]diazepine-6(11H)-ones. Eur J Med Chem 70, 758–767.

deSouza, R., Moro, E., Lang, A., Schapira, A., 2013. Timing of deep brain stimulation in Parkinson disease: A need for reappraisal? Ann Neurol 73, 565–575.

Dihanich, S., Civiero, L., Manzoni, C., Mamais, A., Bandopadhyay, R., Greggio, E., Lewis, P., 2013. GTP binding controls complex formation by the human ROCO protein MASL1. FEBS J.

Doherty, K., Hardy, J., 2013. Parkin disease and the Lewy body conundrum. Mov Disord.

Doherty, K.M., Silveira-Moriyama, L., Parkkinen, L., Healy, D.G., Farrell, M., Mencacci, N.E., Ahmed, Z., Brett, F.M., Hardy, J., Quinn, N., Counihan, T.J., Lynch, T., Fox, Z.V., Revesz, T., Lees, A.J., Holton, J.L., 2013. Parkin Disease: A Clinicopathologic Entity? JAMA Neurol 1–9.

Dunn, L., Allen, G., Mamais, A., Ling, H., Li, A., Duberley, K., Hargreaves, I., Pope, S., Holton, J., Lees, A., Heales, S., Bandopadhyay, R., 2013. Dysregulation of glucose metabolism is an early event in sporadic Parkinson’s disease. Neurobiol Aging.

Forabosco, P., Ramasamy, A., Trabzuni, D., Walker, R., Smith, C., Bras, J., Levine, A., Hardy, J., Pocock, J., Guerreiro, R., Weale, M., Ryten, M., 2013. Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiol Aging.

Guerreiro, R., Bilgic, B., Guven, G., Brás, J., Rohrer, J., Lohmann, E., Hanagasi, H., Gurvit, H., Emre, M., 2013. A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. Neurobiol Aging 34, 2890.e1–5.

Guerreiro, R., Bras, J., Vieira, M., Warrier, V., Agrawal, S., Stewart, H., Anderson, G., Mole, S., 2013. CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. Eur J Paediatr Neurol.

Guerreiro, R., Kara, E., Le Ber, I., Bras, J., Rohrer, J., Taipa, R., Lashley, T., Dupuits, C., Gurunlian, N., Mochel, F., Warren, J., Hannequin, D., Sedel, F., Depienne, C., Camuzat, A., Golfier, V., Du Boisguéheneuc, F., Schottlaender, L., Fox, N., Beck, J., Mead, S., Rossor, M., Hardy, J., Revesz, T., Brice, A., Houlden, H., 2013. Genetic Analysis of Inherited Leukodystrophies: Genotype-Phenotype Correlations in the CSF1R Gene. JAMA Neurol 1–9.

Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J., Younkin, S., Hazrati, L., Collinge, J., Pocock, J., Lashley, T., Williams, J., Lambert, J., Amouyel, P., Goate, A., Rademakers, R., Morgan, K., Powell, J., St George-Hyslop, P., Singleton, A., Hardy, J., Alzheimer Genetic Analysis Group, 2013. TREM2 variants in Alzheimer’s disease. N Engl J Med 368, 117–127.

Hammer, M.B., Eleuch-Fayache, G., Schottlaender, L.V., Nehdi, H., Gibbs, J.R., Arepalli, S.K., Chong, S.B., Hernandez, D.G., Sailer, A., Liu, G., Mistry, P.K., Cai, H., Shrader, G., Sassi, C., Bouhlal, Y., Houlden, H., Hentati, F., Amouri, R., Singleton, A.B., 2013. Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity. The American Journal of Human Genetics 92, 245–251.

Hardy, J., 2013. Psychiatric genetics: are we there yet? JAMA Psychiatry 70, 569–570.

Haskin, J., Szargel, R., Shani, V., Mekies, L.N., Rott, R., Lim, G.G.Y., Lim, K.-L., Bandopadhyay, R., Wolosker, H., Engelender, S., 2013. AF-6 is a positive modulator of the PINK1/parkin pathway and is deficient in Parkinson’s disease. Human Molecular Genetics.

Hersheson, J., Mencacci, N., Davis, M., Macdonald, N., Trabzuni, D., Ryten, M., Pittman, A., Paudel, R., Kara, E., Fawcett, K., Plagnol, V., Bhatia, K., Medlar, A., Stanescu, H., Hardy, J., Kleta, R., Wood, N., Houlden, H., 2013. Mutations in the autoregulatory domain of ß-tubulin 4a cause hereditary dystonia. Ann Neurol.

Holmström, K., Baird, L., Zhang, Y., Hargreaves, I., Chalasani, A., Land, J., Stanyer, L., Yamamoto, M., Dinkova-Kostova, A., Abramov, A., 2013. Nrf2 impacts cellular bioenergetics by controlling substrate availability for mitochondrial respiration. Biol Open 2, 761–770.

Holmström, K., Marina, N., Baev, A., Wood, N., Gourine, A., Abramov, A., 2013. Signalling properties of inorganic polyphosphate in the mammalian brain. Nat Commun 4, 1362.

Hudson, G., Nalls, M., Evans, J., Breen, D., Winder-Rhodes, S., Morrison, K., Morris, H., Williams-Gray, C., Barker, R., Singleton, A., Hardy, J., Wood, N., Burn, D., Chinnery, P., 2013. Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease. Neurology.

Jenner, P., Morris, H., Robbins, T., Goedert, M., Hardy, J., Ben-Shlomo, Y., Bolam, P., Burn, D., Hindle, J., Brooks, D., 2013. Parkinson’s disease - the debate on the clinical phenomenology, aetiology, pathology and pathogenesis. J Parkinsons Dis 3, 1–11.

Kägi, G., Katschnig, P., Fiorio, M., Tinazzi, M., Ruge, D., Rothwell, J., Bhatia, K., 2013. Sensory tricks in primary cervical dystonia depend on visuotactile temporal discrimination. Mov Disord.

Kamynina, A.V., Holmström, K.M., Koroev, D.O., Volpina, O.M., Abramov, A.Y., 2013. Acetylcholine and antibodies against the acetylcholine receptor protect neurons and astrocytes against beta-amyloid toxicity. The International Journal of Biochemistry & Cell Biology 45, 899–907.

Kara, E., Hardy, J., Houlden, H., 2013. The pallidopyramidal syndromes: nosology, aetiology and pathogenesis. Curr Opin Neurol 26, 381–394.

Kara, E., Lewis, P., Ling, H., Proukakis, C., Houlden, H., Hardy, J., 2013. a-Synuclein mutations cluster around a putative protein loop. Neurosci Lett 546, 67–70.

Kiely, A., Asi, Y., Kara, E., Limousin, P., Ling, H., Lewis, P., Proukakis, C., Quinn, N., Lees, A., Hardy, J., Revesz, T., Houlden, H., Holton, J., 2013. a-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy? Acta Neuropathol 1–17.

Kilpatrick, B., Eden, E., Schapira, A., Futter, C., Patel, S., 2013. Direct mobilisation of lysosomal Ca2+ triggers complex Ca2+ signals. J Cell Sci 126, 60–66.

Klebe, S., Golmard, J.-L., Nalls, M.A., Saad, M., Singleton, A.B., Bras, J.M., Hardy, J., Simon-Sanchez, J., Heutink, P., Kuhlenbäumer, G., Charfi, R., Klein, C., Hagenah, J., Gasser, T., Wurster, I., Lesage, S., Lorenz, D., Deuschl, G., Durif, F., Pollak, P., Damier, P., Tison, F., Durr, A., Amouyel, P., Lambert, J.-C., Tzourio, C., Maubaret, C., Charbonnier-Beaupel, F., Tahiri, K., Vidailhet, M., Martinez, M., Brice, A., Corvol, J.-C., 2013. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson’s disease with a sexual dimorphism. Journal of Neurology, Neurosurgery & Psychiatry.

Kruer, M., Jepperson, T., Dutta, S., Steiner, R., Cottenie, E., Sanford, L., Merkens, M., Russman, B., Blasco, P., Fan, G., Pollock, J., Green, S., Woltjer, R., Mooney, C., Kretzschmar, D., Paisán-Ruiz, C., Houlden, H., 2013. Mutations in gamma adducin are associated with inherited cerebral palsy. Ann Neurol.

Le Ber, I., Camuzat, A., Guerreiro, R., Bouya-Ahmed, K., Bras, J., Nicolas, G., Gabelle, A., Didic, M., De Septenville, A., Millecamps, S., Lenglet, T., Latouche, M., Kabashi, E., Campion, D., Hannequin, D., Hardy, J., Brice, A., for the French Clinical and Genetic Research Network on FTD/FTD-ALS, 2013. SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA Neurol 70, 1403–1410.

LeishGEN Consortium, Wellcome Trust Case Control Consortium 2, Fakiola, M., Strange, A., Cordell, H.J., Miller, E.N., Pirinen, M., et al., 2013. Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis. Nat Genet 45, 208–213.

Ling, H., Kara, E., Bandopadhyay, R., Hardy, J., Holton, J., Xiromerisiou, G., Lees, A., Houlden, H., Revesz, T., 2013. TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT. Neurobiol Aging.

Mamais, A., Raja, M., Manzoni, C., Dihanich, S., Lees, A., Moore, D., Lewis, P., Bandopadhyay, R., 2013. Divergent a-synuclein solubility and aggregation properties in G2019S LRRK2 Parkinson’s disease brains with Lewy Body pathology compared to idiopathic cases. Neurobiol Dis.

Manzoni, C., Lewis, P., 2013. Dysfunction of the autophagy/lysosomal degradation pathway is a shared feature of the genetic synucleinopathies. FASEB J.

Manzoni, C., Mamais, A., Dihanich, S., Abeti, R., Soutar, M., Plun-Favreau, H., Giunti, P., Tooze, S., Bandopadhyay, R., Lewis, P., 2013. Inhibition of LRRK2 kinase activity stimulates macroautophagy. Biochim Biophys Acta.

Manzoni, C., Mamais, A., Dihanich, S., McGoldrick, P., Devine, M., Zerle, J., Kara, E., Taanman, J., Healy, D., Marti-Masso, J., Schapira, A., Plun-Favreau, H., Tooze, S., Hardy, J., Bandopadhyay, R., Lewis, P., 2013. Pathogenic Parkinson’s disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation. Biochem Biophys Res Commun.

McNeill, A., Healy, D., Schapira, A., Taanman, J., 2013. Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations. Mol Genet Metab.

McNeill, A., Roberti, G., Lascaratos, G., Hughes, D., Mehta, A., Garway-Heath, D.F., Schapira, A.H.V., 2013. Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study. Molecular Genetics and Metabolism.

McNeill, A., Wu, R., Tzen, K., Aguiar, P., Arbelo, J., Barone, P., Bhatia, K., Barsottini, O., Bonifati, V., Bostantjopoulou, S., Bressan, R., Cossu, G., Cortelli, P., Felicio, A., Ferraz, H., Herrera, J., Houlden, H., Hoexter, M., Isla, C., Lees, A., Lorenzo-Betancor, O., Mencacci, N., Pastor, P., Pappata, S., Pellecchia, M., Silveria-Moriyama, L., Varrone, A., Foltynie, T., Schapira, A., 2013. Dopaminergic neuronal imaging in genetic Parkinson’s disease: insights into pathogenesis. PLoS One 8, e69190.

Mok, K., Schneider, S., Trabzuni, D., Stamelou, M., Edwards, M., Kasperaviciute, D., Pickering-Brown, S., Silverdale, M., Hardy, J., Bhatia, K., 2013. Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Mov Disord.

Mullin, S., Schapira, A., 2013. Alpha-synuclein and mitochondrial dysfunction in Parkinson’s disease. Mol Neurobiol 47, 587–597.

Nalini, A., Pandraud, A., Mok, K., Houlden, H., 2013. Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. J Neurol Sci 334, 119–122.

Nalls, M., Duran, R., Lopez, G., Kurzawa-Akanbi, M., McKeith, I., et al., 2013. A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies. JAMA Neurol 1–9.

Nalls, M., Saad, M., Noyce, A., Keller, M., Schrag, A., Bestwick, J., Traynor, B., Gibbs, J., Hernandez, D., Cookson, M., Morris, H., Williams, N., Gasser, T., Heutink, P., Wood, N., Hardy, J., Martinez, M., Singleton, A., for the International Parkinson's Disease Genomics Consortium (IPDGC), The Wellcome Trust Case Control Consortium 2 (WTCCC2), North American Brain Expression Consortium (NABEC) and the United Kingdom Brain Expression Consortium (UKBEC), 2013. Genetic comorbidities in Parkinson’s disease. Hum Mol Genet.

Osellame, L., Rahim, A., Hargreaves, I., Gegg, M., Richard-Londt, A., Brandner, S., Waddington, S., Schapira, A., Duchen, M., 2013. Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson’s disease. Cell Metab 17, 941–953.

Pittman, A., Hardy, J., 2013. Genetic analysis in neurology: the next 10 years. JAMA Neurol 70, 696–702.

Proukakis, C., Dudzik, C.G., Brier, T., MacKay, D.S., Cooper, J.M., Millhauser, G.L., Houlden, H., Schapira, A.H., 2013. A novel a-synuclein missense mutation in Parkinson disease. Neurology 80, 1062–1064.

Proukakis, C., Houlden, H., Schapira, A.H., 2013. Somatic alpha-synuclein mutations in Parkinson’s disease: Hypothesis and preliminary data. Movement Disorders.

Ross, O., Soto-Ortolaza, A., Heckman, M., Verbeeck, C., Serie, D., Rayaprolu, S., Rich, S., Nalls, M., Singleton, A., Guerreiro, R., Kinsella, E., Wszolek, Z., Brott, T., Brown, R., Worrall, B., Meschia, J., 2013. NOTCH3 variants and risk of ischemic stroke. PLoS One 8, e75035.

Rubio-Agusti, I., Pareés, I., Kojovic, M., Stamelou, M., Saifee, T.A., Charlesworth, G., Sheerin, U.M., Edwards, M.J., Bhatia, K.P., in press. Tremulous cervical dystonia is likely to be familial: Clinical characteristics of a large cohort. Parkinsonism & Related Disorders.

Schapira, A., 2013. Recent developments in biomarkers in Parkinson disease. Curr Opin Neurol 26, 395–400.

Schapira, A., Gegg, M., 2013. Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease. Proc Natl Acad Sci U S A 110, 3214–3215.

Schapira, A., McDermott, M., Barone, P., Comella, C., Albrecht, S., Hsu, H., Massey, D., Mizuno, Y., Poewe, W., Rascol, O., Marek, K., 2013. Pramipexole in patients with early Parkinson’s disease (PROUD): a randomised delayed-start trial. Lancet Neurol 12, 747–755.

Schneider, SA, Dusek, P, Hardy, J, Westenberger, A, Jankovic, J, Bhatia, KP, 2013. Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). Current Neuropharmacology 11, 59–79.

Schulte, E., Ellwanger, D., Dihanich, S., Manzoni, C., Stangl, K., Schormair, B., Graf, E., Eck, S., Mollenhauer, B., Haubenberger, D., Pirker, W., Zimprich, A., Brücke, T., Lichtner, P., Peters, A., Gieger, C., Trenkwalder, C., Mewes, H., Meitinger, T., Lewis, P., Klünemann, H., Winkelmann, J., 2013. Rare variants in LRRK1 and Parkinson’s disease. Neurogenetics.

Stamelou, M., Adams, M., Davagnanam, I., Batla, A., Sheerin, U., Talbot, K., Bhatia, KP., 2013. Progressive ataxia and palatal tremor associated with dense pontine calcification: A unique case. Mov Disord.

Stamelou, M., Lai, S., Aggarwal, A., Schneider, S., Houlden, H., Yeh, T., Batla, A., Lu, C., Bhatt, M., Bhatia, K., 2013. Dystonic opisthotonus: A “red flag” for neurodegeneration with brain iron accumulation syndromes? Mov Disord.

Suwanjang, W., Holmström, K.M., Chetsawang, B., Abramov, A.Y., 2013. Glucocorticoids reduce intracellular calcium concentration and protects neurons against glutamate toxicity. Cell Calcium 53, 256–263.

Ticozzi, N., Tiloca, C., Mencacci, N., Morelli, C., Doretti, A., Rusconi, D., Colombrita, C., Sangalli, D., Verde, F., Finelli, P., Messina, S., Ratti, A., Silani, V., 2013. Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations. J Neurol 260, 85–92.

Trabzuni, D., Ryten, M., Emmett, W., Ramasamy, A., Lackner, K., Zeller, T., Walker, R., Smith, C., Lewis, P., Mamais, A., de Silva, R., Vandrovcova, J., The International Parkinson Disease Genomics Consortium (IPDGC), Hernandez, D., Nalls, M., Sharma, M., Garnier, S., Lesage, S., Simon-Sanchez, J., Gasser, T., Heutink, P., Brice, A., Singleton, A., Cai, H., Schadt, E., Wood, N., Bandopadhyay, R., Weale, M., Hardy, J., Plagnol, V., 2013. Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated LRRK2 Locus. PLoS One 8, e70724.

Tucci, A., Liu, Y., Preza, E., Pitceathly, R., Chalasani, A., Plagnol, V., Land, J., Trabzuni, D., Ryten, M. on behalf of UKBEC, Jaunmuktane, Z., Reilly, M., Brandner, S., Hargreaves, I., Hardy, J., Singleton, A., Abramov, A., Houlden, H., 2013. Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. J Neurol Neurosurg Psychiatry.

Udayar, V., Buggia-Prévot, V., Guerreiro, R., Siegel, G., Rambabu, N., Soohoo, A., Ponnusamy, M., Siegenthaler, B., Bali, J., AESG, Simons, M., Ries, J., Puthenveedu, M., Hardy, J., Thinakaran, G., Rajendran, L., 2013. A paired RNAi and RabGAP overexpression screen identifies Rab11 as a regulator of ß-amyloid production. Cell Rep 5, 1536–1551.

Vaarmann, A., Kovac, S., Holmström, K., Gandhi, S., Abramov, A., 2013. Dopamine protects neurons against glutamate-induced excitotoxicity. Cell Death Dis 4, e455.

Waheed, A., Ludtmann, M., Pakes, N., Robery, S., Kuspa, A., Dinh, C., Baines, D., Williams, R., Carew, M., 2013. Naringenin inhibits the growth of Dictyostelium and MDCK-derived cysts in a polycystin-2 (TRPP2)-dependent manner. Br J Pharmacol.

Wood-Kaczmar, A., Deas, E., Wood, N., Abramov, A., 2013. The Role of the Mitochondrial NCX in the Mechanism of Neurodegeneration in Parkinson’s Disease. Adv Exp Med Biol 961, 241–249.

Xiromerisiou, G., Dardiotis, E., Tsironi, E.E., Hadjigeorgiou, G., Ralli, S., Kara, E., Petalas, A., Tachmitzi, S., Hardy, J., Houlden, H., 2013. THAP1 mutations in a Greek primary blepharospasm series. Parkinsonism & Related Disorders 19, 404–405.

Yao, C., Johnson, W., Gao, Y., Wang, W., Zhang, J., Deak, M., Alessi, D., Zhu, X., Mieyal, J., Roder, H., Wilson-Delfosse, A., Chen, S., 2013. Kinase inhibitors arrest neurodegeneration in cell and C. elegans models of LRRK2 toxicity. Hum Mol Genet 22, 328–344.

Zhang, L., Karsten, P., Hamm, S., Pogson, J., Müller-Rischart, A., Exner, N., Haass, C., Whitworth, A., Winklhofer, K., Schulz, J., Voigt, A., 2013. TRAP1 rescues PINK1 loss-of-function phenotypes. Hum Mol Genet 22, 2829–2841.

   

2012

Batla, A., Stamelou, M., Bhatia, K., 2012. Treatment of focal dystonia. Curr Treat Options Neurol 14, 213–229.

Bras, J., Guerreiro, R., Hardy, J., 2012a. Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease. Nat Rev Neurosci 13, 453–464.

Bras, J., Verloes, A., Schneider, S., Mole, S., Guerreiro, R., 2012b. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet 21, 2646–2650.

Charlesworth, G., Gandhi, S., Bras, J., Barker, R., Burn, D., Chinnery, P., Gentleman, S., Guerreiro, R., Hardy, J., Holton, J., Lees, A., Morrison, K., Sheerin, U., Williams, N., Morris, H., Revesz, T., Wood, N., 2012a. Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiol Aging 33, 838.e7–11.

Charlesworth, G., Plagnol, V., Holmström, K., Bras, J., Sheerin, U., Preza, E., Rubio-Agusti, I., Ryten, M., Schneider, S., Stamelou, M., Trabzuni, D., Abramov, A., Bhatia, K., Wood, N., 2012b. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet 91, 1041–1050.

Choi, H., Zhang, J., Deng, X., Hatcher, J., Patricelli, M., Zhao, Z., Alessi, D., Gray, N., 2012. Brain Penetrant LRRK2 Inhibitor. ACS Med Chem Lett 3, 658–662.

Cooper-Knock, J., Hewitt, C., Highley, J., Brockington, A., Milano, A., Man, S., Martindale, J., Hartley, J., Walsh, T., Gelsthorpe, C., Baxter, L., Forster, G., Fox, M., Bury, J., Mok, K., McDermott, C., Traynor, B., Kirby, J., Wharton, S., Ince, P., Hardy, J., Shaw, P., 2012. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 135, 751–764.

Cremades, N., Cohen, S., Deas, E., Abramov, A., Chen, A., Orte, A., Sandal, M., Clarke, R., Dunne, P., Aprile, F., Bertoncini, C., Wood, N., Knowles, T., Dobson, C., Klenerman, D., 2012. Direct observation of the interconversion of normal and toxic forms of a-synuclein. Cell 149, 1048–1059.

Dihanich, S., 2012. MASL1: a neglected ROCO protein. Biochem Soc Trans 40, 1090–1094.

Duchen, M., 2012. Mitochondria, calcium-dependent neuronal death and neurodegenerative disease. Pflugers Arch 464, 111–121.

Duran, R., McNeill, A., Mehta, A., Hughes, D., Cox, T., Deegan, P., Schapira, A., Hardy, J., 2012a. Novel pathogenic mutations in the glucocerebrosidase locus. Mol Genet Metab 106, 495–497.

Duran, R., Mencacci, N., Angeli, A., Shoai, M., Deas, E., Houlden, H., Mehta, A., Hughes, D., Cox, T., Deegan, P., Schapira, A., Lees, A., Limousin, P., Jarman, P., Bhatia, K., Wood, N., Hardy, J., Foltynie, T., 2012b. The glucocerobrosidase E326K variant predisposes to Parkinson’s disease, but does not cause Gaucher’s disease. Mov Disord.

Dzamko, N., Inesta-Vaquera, F., Zhang, J., Xie, C., Cai, H., Arthur, S., Tan, L., Choi, H., Gray, N., Cohen, P., Pedrioli, P., Clark, K., Alessi, D., 2012. The IkappaB kinase family phosphorylates the Parkinson’s disease kinase LRRK2 at Ser935 and Ser910 during Toll-like receptor signaling. PLoS One 7, e39132.

Edwards, M., Bhatia, K., 2012. Functional (psychogenic) movement disorders: merging mind and brain. Lancet Neurol 11, 250–260.

Edwards, M., Lang, A., Bhatia, K., 2012. Stereotypies: a critical appraisal and suggestion of a clinically useful definition. Mov Disord 27, 179–185.

Fasano, A., Valadas, A., Bhatia, K., Prashanth, L., Lang, A., Munhoz, R., Morgante, F., Tarsy, D., Duker, A., Girlanda, P., Bentivoglio, A., Espay, A., 2012. Psychogenic facial movement disorders: clinical features and associated conditions. Mov Disord 27, 1544–1551.

Fitzgerald, J., Camprubi, M., Dunn, L., Wu, H., Ip, N., Kruger, R., Martins, L., Wood, N., Plun-Favreau, H., 2012. Phosphorylation of HtrA2 by cyclin-dependent kinase-5 is important for mitochondrial function. Cell Death Differ 19, 257–266.

Gandhi, S., Abramov, A., 2012. Mechanism of oxidative stress in neurodegeneration. Oxid Med Cell Longev 2012, 428010.

Gandhi, S., Vaarmann, A., Yao, Z., Duchen, M., Wood, N., Abramov, A., 2012. Dopamine induced neurodegeneration in a PINK1 model of Parkinson’s disease. PLoS One 7, e37564.

Gardiner, A., Bhatia, K., Stamelou, M., Dale, R., Kurian, M., Schneider, S., Wali, G., Counihan, T., Schapira, A., Spacey, S., Valente, E., Silveira-Moriyama, L., Teive, H., Raskin, S., Sander, J., Lees, A., Warner, T., Kullmann, D., Wood, N., Hanna, M., Houlden, H., 2012. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 79, 2115–2121.

Gegg, M., Burke, D., Heales, S., Cooper, J., Hardy, J., Wood, N., Schapira, A., 2012. Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol 72, 455–463.

Guerreiro, R., Gustafson, D., Hardy, J., 2012a. The genetic architecture of Alzheimer’s disease: beyond APP, PSENs and APOE. Neurobiol Aging 33, 437–456.

Guerreiro, R., Lohmann, E., Brás, J., Gibbs, J., Rohrer, J., Gurunlian, N., Dursun, B., Bilgic, B., Hanagasi, H., Gurvit, H., Emre, M., Singleton, A., Hardy, J., 2012b. Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia-like Syndrome Without Bone Involvement. Arch Neurol 1–7.

Guerreiro, R., Lohmann, E., Kinsella, E., Brás, J., Luu, N., Gurunlian, N., Dursun, B., Bilgic, B., Santana, I., Hanagasi, H., Gurvit, H., Gibbs, J., Oliveira, C., Emre, M., Singleton, A., 2012c. Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer’s disease. Neurobiol Aging 33, 1008.e17–23.

Hardy, J., 2012. CSF biomarking for diagnosis and treatment assessment in neurodegeneration. J Neurochem 123, 339–341.

Holmans, P., Moskvina, V., Jones, L., Sharma, M., The International Parkinson's Disease Genomics Consortium (IPDGC), Buchel, F., Sadd, M., Bras, J., Bettella, F., Nicolaou, N., Simón-Sánchez, J., Mittag, F., Gibbs, J., Schulte, C., Durr, A., Guerreiro, R., Hernandez, D., Brice, A., Stefánsson, H., Majamaa, K., Gasser, T., Heutink, P., Wood, N., Martinez, M., Singleton, A., Nalls, M., Hardy, J., Morris, H., Williams, N., 2012. A pathway based analysis provides additional support for an immune-related genetic susceptibility to Parkinson’s disease. Hum Mol Genet.

Jebelli, J., Dihanich, S., Civiero, L., Manzoni, C., Greggio, E., Lewis, P., 2012. GTP binding and intramolecular regulation by the ROC domain of Death Associated Protein Kinase 1. Sci Rep 2, 695.

Keller, M., Saad, M., Bras, J., Bettella, F., Nicolaou, N., Simón-Sánchez, J., Mittag, F., Büchel, F., Sharma, M., Gibbs, J., Schulte, C., Moskvina, V., Durr, A., Holmans, P., Kilarski, L., Guerreiro, R., Hernandez, D., Brice, A., Ylikotila, P., Stefánsson, H., Majamaa, K., Morris, H., Williams, N., Gasser, T., Heutink, P., Wood, N., Hardy, J., Martinez, M., Singleton, A., Nalls, M., for the International Parkinson's Disease Genomics Consortium (IPDGC) and The Wellcome Trust Case Control Consortium 2 (WTCCC2), 2012. Using genome-wide complex trait analysis to quantify “missing heritability” in Parkinson’s disease. Hum Mol Genet 21, 4996–5009.

Kojovic, M., Bologna, M., Kassavetis, P., Murase, N., Palomar, F., Berardelli, A., Rothwell, J., Edwards, M., Bhatia, K., 2012a. Functional reorganization of sensorimotor cortex in early Parkinson disease. Neurology 78, 1441–1448.

Kojovic, M., Sheerin, U., Rubio-Agusti, I., Saha, A., Bras, J., Gibbons, V., Palmer, R., Houlden, H., Hardy, J., Wood, N., Bhatia, K., 2012b. Young-onset parkinsonism due to homozygous duplication of a-synuclein in a consanguineous family. Mov Disord 27, 1829–1830.

Kondapalli, C., Kazlauskaite, A., Zhang, N., Woodroof, H., Campbell, D., Gourlay, R., Burchell, L., Walden, H., Macartney, T., Deak, M., Knebel, A., Alessi, D., Muqit, M., 2012. PINK1 is activated by mitochondrial membrane potential depolarization and stimulates Parkin E3 ligase activity by phosphorylating Serine 65. Open Biol 2, 120080.

Lascaratos, G., Garway-Heath, D., Willoughby, C., Chau, K., Schapira, A., 2012. Mitochondrial dysfunction in glaucoma: understanding genetic influences. Mitochondrion 12, 202–212.

Lescai, F., Bonfiglio, S., Bacchelli, C., Chanudet, E., Waters, A., Sisodiya, S., Kasperaviciute, D., Williams, J., Harold, D., Hardy, J., Kleta, R., Cirak, S., Williams, R., Achermann, J., Anderson, J., Kelsell, D., Vulliamy, T., Houlden, H., Wood, N., Sheerin, U., Tonini, G., Mackay, D., Hussain, K., Sowden, J., Kinsler, V., Osinska, J., Brooks, T., Hubank, M., Beales, P., Stupka, E., 2012. Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One 7, e51292.

Lewis, P., 2012a. Assaying the kinase activity of LRRK2 in vitro. J Vis Exp 59.

Lewis, P., Alessi, D., 2012. Deciphering the function of leucine-rich repeat kinase 2 and targeting its dysfunction in disease. Biochem Soc Trans 40, 1039–1041.

Lewis, P., Cookson, M., 2012. Gene expression in the Parkinson’s disease brain. Brain Res Bull 88, 302–312.

Lewis, P., Manzoni, C., 2012. LRRK2 and human disease: a complicated question or a question of complexes? Sci Signal 5, pe2.

Lewis, P.A., 2012b. James Parkinson: The Man Behind the Shaking Palsy. Journal of Parkinson’s Disease 2, 181–187.

Li, A., Paudel, R., Johnson, R., Courtney, R., Lees, A., Holton, J., Hardy, J., Revesz, T., Houlden, H., 2012. Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Neuropathol Appl Neurobiol.

Majounie, E., Renton, A., Mok, K., Dopper, E., Waite, A., et al., 2012. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 11, 323–330.

Manzoni, C., 2012. LRRK2 and autophagy: a common pathway for disease. Biochem Soc Trans 40, 1147–1151.

Matsuki, T., Zaka, M., Guerreiro, R., Van der Brug, M., Cooper, J., Cookson, M., Hardy, J., Howell, B., 2012. Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice. PLoS One 7, e31152.

McNeill, A., Duran, R., Hughes, D., Mehta, A., Schapira, A., 2012a. A clinical and family history study of Parkinson’s disease in heterozygous glucocerebrosidase mutation carriers. J Neurol Neurosurg Psychiatry 83, 853–854.

McNeill, A., Duran, R., Proukakis, C., Bras, J., Hughes, D., Mehta, A., Hardy, J., Wood, N., Schapira, A., 2012b. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord 27, 526–532.

Mok, K., Traynor, B., Schymick, J., Tienari, P., Laaksovirta, H., Peuralinna, T., Myllykangas, L., Chiò, A., Shatunov, A., Boeve, B., Boxer, A., DeJesus-Hernandez, M., Mackenzie, I., Waite, A., Williams, N., Morris, H., Simón-Sánchez, J., Van Swieten, J., Heutink, P., Restagno, G., Mora, G., Morrison, K., Shaw, P., Rollinson, P., Al-Chalabi, A., Rademakers, R., Pickering-Brown, S., Orrell, R., Nalls, M., Hardy, J., 2012. Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging 33, 209.e3–8.

Osellame, L., Blacker, T., Duchen, M., 2012. Cellular and molecular mechanisms of mitochondrial function. Best Pract Res Clin Endocrinol Metab 26, 711–723.

Paisán-Ruiz, C., Li, A., Schneider, S., Holton, J., Johnson, R., Kidd, D., Chataway, J., Bhatia, K., Lees, A., Hardy, J., Revesz, T., Houlden, H., 2012. Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging 33, 814–823.

Papkovskaia, T., Chau, K., Inesta-Vaquera, F., Papkovsky, D., Healy, D., Nishio, K., Staddon, J., Duchen, M., Hardy, J., Schapira, A., Cooper, J., 2012. G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization. Hum Mol Genet 21, 4201–4213.

Patani, R., Lewis, P., Trabzuni, D., Puddifoot, C., Wyllie, D., Walker, R., Smith, C., Hardingham, G., Weale, M., Hardy, J., Chandran, S., Ryten, M., 2012. Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis. J Neurochem 122, 738–751.

Pimenta de Castro, I., Costa, A., Lam, D., Tufi, R., Fedele, V., Moisoi, N., Dinsdale, D., Deas, E., Loh, S., Martins, L., 2012. Genetic analysis of mitochondrial protein misfolding in Drosophila melanogaster. Cell Death Differ 19, 1308–1316.

Plun-Favreau, H., Burchell, V., Holmström, K., Yao, Z., Deas, E., Cain, K., Fedele, V., Moisoi, N., Campanella, M., Miguel Martins, L., Wood, N., Gourine, A., Abramov, A., 2012. HtrA2 deficiency causes mitochondrial uncoupling through the F1F0-ATP synthase and consequent ATP depletion. Cell Death Dis 3, e335.

Reith, A., Bamborough, P., Jandu, K., Andreotti, D., Mensah, L., Dossang, P., Choi, H., Deng, X., Zhang, J., Alessi, D., Gray, N., 2012. GSK2578215A; a potent and highly selective 2-arylmethyloxy-5-substitutent-N-arylbenzamide LRRK2 kinase inhibitor. Bioorg Med Chem Lett 22, 5625–5629.

Schapira, A., 2012. Mitochondrial diseases. Lancet 379, 1825–1834.

Schneider, S., Hardy, J., Bhatia, K., 2012. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord 27, 42–53.

Sheerin, U., Charlesworth, G., Bras, J., Guerreiro, R., Bhatia, K., Foltynie, T., Limousin, P., Silveira-Moriyama, L., Lees, A., Wood, N., 2012a. Screening for VPS35 mutations in Parkinson’s disease. Neurobiol Aging 33, 838.e1–5.

Sheerin, U., Stamelou, M., Charlesworth, G., Shiner, T., Spacey, S., Valente, E., Wood, N., Bhatia, K., 2012b. Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. J Neurol.

Simón-Sánchez, J., Kilarski, L., Nalls, M., Martinez, M., Schulte, C., Holmans, P., International Parkinson's Disease Genomics Consortium, Wellcome Trust Case Control Consortium, Gasser, T., Hardy, J., Singleton, A., Wood, N., Brice, A., Heutink, P., Williams, N., Morris, H., 2012. Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson’s disease. PLoS One 7, e28787.

Stamelou, M., Alonso-Canovas, A., Bhatia, K., 2012a. Dystonia in corticobasal degeneration: a review of the literature on 404 pathologically proven cases. Mov Disord 27, 696–702.

Stamelou, M., Edwards, M., Hallett, M., Bhatia, K., 2012b. The non-motor syndrome of primary dystonia: clinical and pathophysiological implications. Brain 135, 1668–1681.

Stamelou, M., Mencacci, N., Cordivari, C., Batla, A., Wood, N., Houlden, H., Hardy, J., Bhatia, K., 2012c. Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. Neurology 79, 435–441.

Stamelou, M., Plazzi, G., Lugaresi, E., Edwards, M., Bhatia, K., 2012d. The distinct movement disorder in anti-NMDA receptor encephalitis may be related to Status Dissociatus: a hypothesis. Mov Disord 27, 1360–1363.

Stamelou, M., Saifee, T., Edwards, M., Bhatia, K., 2012e. Psychogenic palatal tremor may be underrecognized: reappraisal of a large series of cases. Mov Disord 27, 1164–1168.

Stamelou, M., Tuschl, K., Chong, W., Burroughs, A., Mills, P., Bhatia, K., Clayton, P., 2012f. Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. Mov Disord 27, 1317–1322.

Stockner, H., Schwingenschuh, P., Djamshidian, A., Silveira-Moriyama, L., Katschnig, P., Seppi, K., Dickson, J., Edwards, M., Lees, A., Poewe, W., Bhatia, K., 2012. Is transcranial sonography useful to distinguish scans without evidence of dopaminergic deficit patients from Parkinson’s disease? Mov Disord 27, 1182–1185.

Teo, J., Edwards, M., Bhatia, K., 2012. Tardive dyskinesia is caused by maladaptive synaptic plasticity: a hypothesis. Mov Disord 27, 1205–1215.

Tucci, A., Charlesworth, G., Sheerin, U., Plagnol, V., Wood, N., Hardy, J., 2012. Study of the genetic variability in a Parkinson’s Disease gene: EIF4G1. Neurosci Lett 518, 19–22.

Wray, S., Self, M., NINDS Parkinson's Disease iPSC Consortium, NINDS Huntington's Disease iPSC Consortium, NINDS ALS iPSC Consortium, Lewis, P., Taanman, J., Ryan, N., Mahoney, C., Liang, Y., Devine, M., Sheerin, U., Houlden, H., Morris, H., Healy, D., Marti-Masso, J., Preza, E., Barker, S., Sutherland, M., Corriveau, R., D’Andrea, M., Schapira, A., Uitti, R., Guttman, M., Opala, G., Jasinska-Myga, B., Puschmann, A., Nilsson, C., Espay, A., Slawek, J., Gutmann, L., Boeve, B., Boylan, K., Stoessl, A., Ross, O., Maragakis, N., Van Gerpen, J., Gerstenhaber, M., Gwinn, K., Dawson, T., Isacson, O., Marder, K., Clark, L., Przedborski, S., Finkbeiner, S., Rothstein, J., Wszolek, Z., Rossor, M., Hardy, J., 2012. Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLoS One 7, e43099.

Xiromerisiou, G., Houlden, H., Sailer, A., Silveira-Moriyama, L., Hardy, J., Lees, A., 2012a. Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson’s disease. Mov Disord 27, 1323.

Xiromerisiou, G., Houlden, H., Scarmeas, N., Stamelou, M., Kara, E., Hardy, J., Lees, A., Korlipara, P., Limousin, P., Paudel, R., Hadjigeorgiou, G., Bhatia, K., 2012b. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord 27, 1290–1294.

Zhang, J., Deng, X., Choi, H.G., Alessi, D.R., Gray, N.S., 2012. Characterization of TAE684 as a potent LRRK2 kinase inhibitor. Bioorganic & Medicinal Chemistry Letters 22, 1864–1869.

Zhang, T., Inesta-Vaquera, F., Niepel, M., Zhang, J., Ficarro, S., Machleidt, T., Xie, T., Marto, J., Kim, N., Sim, T., Laughlin, J., Park, H., LoGrasso, P., Patricelli, M., Nomanbhoy, T., Sorger, P., Alessi, D., Gray, N., 2012. Discovery of potent and selective covalent inhibitors of JNK. Chem Biol 19, 140–154.

   

2011

Abramov, A., Gegg, M., Grunewald, A., Wood, N., Klein, C., Schapira, A., 2011. Bioenergetic consequences of PINK1 mutations in Parkinson disease. PLoS One 6, e25622.

Alvarez-Erviti, L., Seow, Y., Schapira, A., Gardiner, C., Sargent, I., Wood, M., Cooper, J., 2011. Lysosomal dysfunction increases exosome-mediated alpha-synuclein release and transmission. Neurobiol Dis 42, 360–367.

Bras, J., Singleton, A., 2011. Exome sequencing in Parkinson’s disease. Clin Genet 80, 104–109.

Carecchio, M., Schneider, S., Chan, H., Lachmann, R., Lee, P., Murphy, E., Bhatia, K., 2011. Movement disorders in adult surviving patients with maple syrup urine disease. Mov Disord 26, 1324–1328.

Compta, Y., Parkkinen, L., O’Sullivan, S., Vandrovcova, J., Holton, J., Collins, C., Lashley, T., Kallis, C., Williams, D., De Silva, R., Lees, A., Revesz, T., 2011. Lewy- and Alzheimer-type pathologies in Parkinson’s disease dementia: which is more important? Brain 134, 1493–1505.

Deas, E., Plun-Favreau, H., Gandhi, S., Desmond, H., Kjaer, S., Loh, S., Renton, A., Harvey, R., Whitworth, A., Martins, L., Abramov, A., Wood, N., 2011a. PINK1 cleavage at position A103 by the mitochondrial protease PARL. Hum Mol Genet 20, 867–879.

Deas, E., Wood, N., Plun-Favreau, H., 2011b. Mitophagy and Parkinson’s disease: the PINK1-parkin link. Biochim Biophys Acta 1813, 623–633.

Devine, M., Gwinn, K., Singleton, A., Hardy, J., 2011a. Parkinson’s disease and a-synuclein expression. Mov Disord 26, 2160–2168.

Devine, M., Kaganovich, A., Ryten, M., Mamais, A., Trabzuni, D., Manzoni, C., McGoldrick, P., Chan, D., Dillman, A., Zerle, J., Horan, S., Taanman, J., Hardy, J., Marti-Masso, J., Healy, D., Healey, D., Schapira, A., Wolozin, B., Bandopadhyay, R., Cookson, M., Van der Brug, M., Lewis, P., 2011b. Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue. PLoS One 6, e22489.

Devine, M., Plun-Favreau, H., Wood, N., 2011c. Parkinson’s disease and cancer: two wars, one front. Nat Rev Cancer 11, 812–823.

Devine, M., Ryten, M., Vodicka, P., Thomson, A., Burdon, T., Houlden, H., Cavaleri, F., Nagano, M., Drummond, N., Taanman, J., Schapira, A., Gwinn, K., Hardy, J., Lewis, P., Kunath, T., 2011d. Parkinson’s disease induced pluripotent stem cells with triplication of the a-synuclein locus. Nat Commun 2, 440.

Dihanich, S., Manzoni, C., 2011. LRRK2: a problem lurking in vesicle trafficking? J Neurosci 31, 9787–9788.

Edwards, M., Alonso-Canovas, A., Schrag, A., Bloem, B., Thompson, P., Bhatia, K., 2011. Limb amputations in fixed dystonia: a form of body integrity identity disorder? Mov Disord 26, 1410–1414.

Gegg, M., Schapira, A., 2011. PINK1-parkin-dependent mitophagy involves ubiquitination of mitofusins 1 and 2: Implications for Parkinson disease pathogenesis. Autophagy 7, 243–245.

Guerreiro, R., Hardy, J., 2011. Alzheimer’s disease genetics: lessons to improve disease modelling. Biochem Soc Trans 39, 910–916.

International Parkinson Disease Genomics Consortium, Nalls, M., Plagnol, V., Hernandez, D., Sharma, M., Sheerin, U., Saad, M., Simón-Sánchez, J., Schulte, C., Lesage, S., Sveinbjörnsdóttir, S., Stefánsson, K., Martinez, M., Hardy, J., Heutink, P., Brice, A., Gasser, T., Singleton, A., Wood, N., 2011. Imputation of sequence variants for identification of genetic risks for Parkinson’s disease: a meta-analysis of genome-wide association studies. Lancet 377, 641–649.

International Parkinson’s Disease Genomics Consortium (IPDGC), Wellcome Trust Case Control Consortium 2 (WTCCC2), 2011. A two-stage meta-analysis identifies several new loci for Parkinson’s disease. PLoS Genet 7, e1002142.

Kojovic, M., Caronni, A., Bologna, M., Rothwell, J., Bhatia, K., Edwards, M., 2011. Botulinum toxin injections reduce associative plasticity in patients with primary dystonia. Mov Disord 26, 1282–1289.

Meissner, W., Frasier, M., Gasser, T., Goetz, C., Lozano, A., Piccini, P., Obeso, J., Rascol, O., Schapira, A., Voon, V., Weiner, D., Tison, F., Bezard, E., 2011. Priorities in Parkinson’s disease research. Nat Rev Drug Discov 10, 377–393.

Naj, A., Jun, G., Beecham, G., Wang, L., Vardarajan, B., et al., 2011. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer’s disease. Nat Genet 43, 436–441.

Palmer, C., Osellame, L., Stojanovski, D., Ryan, M., 2011. The regulation of mitochondrial morphology: intricate mechanisms and dynamic machinery. Cell Signal 23, 1534–1545.

Parkkinen, L., O’Sullivan, S.S., Collins, C., Petrie, A., Holton, J.L., Revesz, T., Lees, A.J., 2011. Disentangling the Relationship between Lewy Bodies and Nigral Neuronal Loss in Parkinson’s Disease. Journal of Parkinson’s Disease 1, 277–286.

Pogson, J., Ivatt, R., Whitworth, A., 2011. Molecular mechanisms of PINK1-related neurodegeneration. Curr Neurol Neurosci Rep 11, 283–290.

Renton, A., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., et al., 2011. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257–268.

Schapira, A., 2011. Challenges to the development of disease-modifying therapies in Parkinson’s disease. Eur J Neurol 18 Suppl 1, 16–21.

Schapira, A., Gegg, M., 2011. Mitochondrial contribution to Parkinson’s disease pathogenesis. Parkinsons Dis 2011, 159160.

Schapira, A., Jenner, P., 2011. Etiology and pathogenesis of Parkinson’s disease. Mov Disord 26, 1049–1055.

Schapira, A., Schrag, A., 2011. Parkinson disease: Parkinson disease clinical subtypes and their implications. Nat Rev Neurol 7, 247–248.

Schwingenschuh, P., Katschnig, P., Edwards, M., Teo, J., Korlipara, L., Rothwell, J., Bhatia, K., 2011a. The blink reflex recovery cycle differs between essential and presumed psychogenic blepharospasm. Neurology 76, 610–614.

Schwingenschuh, P., Katschnig, P., Seiler, S., Saifee, T., Aguirregomozcorta, M., Cordivari, C., Schmidt, R., Rothwell, J., Bhatia, K., Edwards, M., 2011b. Moving toward “laboratory-supported” criteria for psychogenic tremor. Mov Disord 26, 2509–2515.

Singleton, A., Hardy, J., 2011. A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. Hum Mol Genet 20, R158–62.

Stamelou, M., Kojovic, M., Edwards, M., Bhatia, K., 2011. Ability to cycle despite severe freezing of gait in atypical parkinsonism in Fahr’s syndrome. Mov Disord 26, 2141–2142.

UK Parkinson’s Disease Consortium, Wellcome Trust Case Control Consortium 2, Spencer, C., Plagnol, V., Strange, A., et al., 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, 345–353.

Whitworth, A., 2011. Drosophila models of Parkinson’s disease. Adv Genet 73, 1–50.

Woodroof, H., Pogson, J., Begley, M., Cantley, L., Deak, M., Campbell, D., Van Aalten, D., Whitworth, A., Alessi, D., Muqit, M., 2011. Discovery of catalytically active orthologues of the Parkinson’s disease kinase PINK1: analysis of substrate specificity and impact of mutations. Open Biol 1, 110012.

Yao, Z., Gandhi, S., Burchell, V., Plun-Favreau, H., Wood, N., Abramov, A., 2011. Cell metabolism affects selective vulnerability in PINK1-associated Parkinson’s disease. J Cell Sci 124, 4194–4202.

   

2010

Alvarez-Erviti, L., Rodriguez-Oroz, M., Cooper, J., Caballero, C., Ferrer, I., Obeso, J., Schapira, A., 2010. Chaperone-mediated autophagy markers in Parkinson disease brains. Arch Neurol 67, 1464–1472.

Burchell, V., Gandhi, S., Deas, E., Wood, N., Abramov, A., Plun-Favreau, H., 2010a. Targeting mitochondrial dysfunction in neurodegenerative disease: Part I. Expert Opin Ther Targets 14, 369–385.

Burchell, V., Gandhi, S., Deas, E., Wood, N., Abramov, A., Plun-Favreau, H., 2010b. Targeting mitochondrial dysfunction in neurodegenerative disease: Part II. Expert Opin Ther Targets 14, 497–511.

Chau, K., Cooper, J., Schapira, A., 2010. Rasagiline protects against alpha-synuclein induced sensitivity to oxidative stress in dopaminergic cells. Neurochem Int 57, 525–529.

Duchen, M., Szabadkai, G., 2010. Roles of mitochondria in human disease. Essays Biochem 47, 115–137.

Dzamko, N., Deak, M., Hentati, F., Reith, A., Prescott, A., Alessi, D., Nichols, R., 2010. Inhibition of LRRK2 kinase activity leads to dephosphorylation of Ser(910)/Ser(935), disruption of 14-3-3 binding and altered cytoplasmic localization. Biochem J 430, 405–413.

Gandhi, S., Wood, N., 2010. Genome-wide association studies: the key to unlocking neurodegeneration? Nat Neurosci 13, 789–794.

Gegg, M., Cooper, J., Chau, K., Rojo, M., Schapira, A., Taanman, J., 2010. Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy. Hum Mol Genet 19, 4861–4870.

Hardy, J., 2010. Genetic analysis of pathways to Parkinson disease. Neuron 68, 201–206.

Kieper, N., Holmström, K., Ciceri, D., Fiesel, F., Wolburg, H., Ziviani, E., Whitworth, A., Martins, L., Kahle, P., Krüger, R., 2010. Modulation of mitochondrial function and morphology by interaction of Omi/HtrA2 with the mitochondrial fusion factor OPA1. Exp Cell Res 316, 1213–1224.

Plun-Favreau, H., Lewis, P., Hardy, J., Martins, L., Wood, N., 2010. Cancer and neurodegeneration: between the devil and the deep blue sea. PLoS Genet 6, e1001257.

Schapira, A., 2010. Complex I: inhibitors, inhibition and neurodegeneration. Exp Neurol 224, 331–335.

Schapira, A., Tolosa, E., 2010. Molecular and clinical prodrome of Parkinson disease: implications for treatment. Nat Rev Neurol 6, 309–317.

Tucci, A., Nalls, M., Houlden, H., Revesz, T., Singleton, A., Wood, N., Hardy, J., Paisán-Ruiz, C., 2010. Genetic variability at the PARK16 locus. Eur J Hum Genet 18, 1356–1359.

Wray, S., Lewis, P., 2010. A tangled web - tau and sporadic Parkinson’s disease. Front Psychiatry 1, 150.

Ziviani, E., Whitworth, A., 2010. How could Parkin-mediated ubiquitination of mitofusin promote mitophagy? Autophagy 6, 660–662.

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