UCL Institute of Neurology

2013

Ahmed, Z and Asi, YT and Lees, AJ and Revesz, T and Holton, JL (2013) Identification and quantification of oligodendrocyte precursor cells in multiple system atrophy, progressive supranuclear palsy and Parkinson's disease. Brain Pathol , 23 (3) 263 - 273. 10.1111/j.1750-3639.2012.00637.x.

Ahmed, Z and Asi, YT and Lees, AJ and Revesz, T and Holton, JL (2013) Identification and quantification of oligodendrocyte precursor cells in multiple system atrophy, progressive supranuclear palsy and parkinson's disease. Brain Pathology , 23 (3) 263 - 273.

Anantha, RW and Alcivar, AL and Ma, J and Cai, H and Simhadri, S and Ule, J and Konig, J and Xia, B (2013) Requirement of Heterogeneous Nuclear Ribonucleoprotein C for BRCA Gene Expression and Homologous Recombination. PLoS One , 8 e61368 - ?. 10.1371/journal.pone.0061368. An open access publication

Andreasson, U and Lautner, R and Schott, JM and Mattsson, N and Hansson, O and Herukka, SK and Helisalmi, S and Ewers, M and Hampel, H and Wallin, A and Minthon, L and Hardy, J and Blennow, K and Zetterberg, H (2013) CSF biomarkers for Alzheimer's pathology and the effect size of APOE ɛ4. Mol Psychiatry 10.1038/mp.2013.18.

Asi, YT and Ling, H and Ahmed, Z and Lees, AJ and Revesz, T and Holton, JL (2013) Cognitive impairment in multiple system atrophy: a clinico-pathological study. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 36 - 36).

Averbeck, BB and Djamshidian, A and O'Sullivan, SS and Housden, CR and Roiser, JP and Lees, AJ (2013) Uncertainty about mapping future actions into rewards may underlie performance on multiple measures of impulsivity in behavioral addiction: evidence from Parkinson's disease. Behav Neurosci , 127 (2) 245 - 255. 10.1037/a0032079.

Baev, AY and Holmstrom, KM and Levitskaya, YV and Abramov, AY (2013) Role of Polyphosphate in Mitochondria: From Modification of Energy Metabolism to Induction of the Cell Death. In: BIOPHYSICAL JOURNAL. (pp. 660A - 660A).

Bartolome, F and Wu, H-C and Burchell, VS and Preza, E and Wray, S and Mahoney, CJ and Fox, NC and Calvo, A and Canosa, A and Moglia, C and Mandrioli, J and Chiò, A and Orrell, RW and Houlden, H and Hardy, J and Abramov, AY and Plun-Favreau, H (2013) Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels. Neuron , 78 (1) 57 - 64.

Bartolome, F and Wu, HC and Burchell, VS and Preza, E and Wray, S and Mahoney, CJ and Fox, NC and Calvo, A and Canosa, A and Moglia, C and Mandrioli, J and Chiò, A and Orrell, RW and Houlden, H and Hardy, J and Abramov, AY and Plun-Favreau, H (2013) Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. Neuron , 78 (1) 57 - 64. 10.1016/j.neuron.2013.02.028.

Beck, J and Poulter, M and Hensman, D and Rohrer, JD and Mahoney, CJ and Adamson, G and Campbell, T and Uphill, J and Borg, A and Fratta, P and Orrell, RW and Malaspina, A and Rowe, J and Brown, J and Hodges, J and Sidle, K and Polke, JM and Houlden, H and Schott, JM and Fox, NC and Rossor, MN and Tabrizi, SJ and Isaacs, AM and Hardy, J and Warren, JD and Collinge, J and Mead, S (2013) Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet , 92 (3) 345 - 353. 10.1016/j.ajhg.2013.01.011.

Beck, J and Poulter, M and Hensman, D and Rohrer, JD and Mahoney, CJ and Adamson, G and Campbell, T and Uphill, J and Borg, A and Fratta, P and Orrell, RW and Malaspina, A and Rowe, J and Brown, J and Hodges, J and Sidle, K and Polke, JM and Houlden, H and Schott, JM and Fox, NC and Rossor, MN and Tabrizi, SJ and Isaacs, AM and Hardy, J and Warren, JD and Collinge, J and Mead, S (2013) Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. American Journal of Human Genetics , 92 (3) 345 - 353.

Bettencourt, C and López-Sendón, J and García-Caldentey, J and Rizzu, P and Bakker, I and Shomroni, O and Quintáns, B and Dávila, J and Bevova, M and Sobrido, M-J and Heutink, P and de Yébenes, J (2013) Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. Clinical Genetics

Bettencourt, C and Lima, M (2013) "Mimicking" capacity of spinocerebellar ataxia type 3: The details matter. J Neurol Sci

Brelstaff, J and Mamais, A and Lashley, T and Holton, JL and Revesz, T and Bandopadhyay, R (2013) The aggregate proteins of FTLD-FUS are re-localised to stress granules upon oxidative stress. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 46 - 47).

Bremell, D and Mattsson, N and Edsbagge, M and Blennow, K and Andreasson, U and Wikkelsö, C and Zetterberg, H and Hagberg, L (2013) Cerebrospinal fluid CXCL13 in Lyme neuroborreliosis and asymptomatic HIV infection. BMC Neurol , 13 2 - ?. 10.1186/1471-2377-13-2. An open access publication

Bunn, LM and Marsden, JF and Giunti, P and Day, BL (2013) Stance instability in spinocerebellar ataxia type 6. Mov Disord , 28 (4) 510 - 516. 10.1002/mds.25163.

Burge, JA and Hanna, MG and Schorge, S (2013) Non-genomic actions of progesterone and 17β-estradiol on the chloride conductance of skeletal muscle. Muscle Nerve 10.1002/mus.23887.

Casper, C and Kalliolia, E and Warner, TT (2013) Recent Advances in the Molecular Pathogenesis of Dystonia-Plus Syndromes and Heredodegenerative Dystonias. CURRENT NEUROPHARMACOLOGY , 11 (1) 30 - 40.

Chan, PK and Torres, R and Yandim, C and Law, PP and Khadayate, S and Mauri, M and Grosan, C and Chapman-Rothe, N and Giunti, P and Pook, M and Festenstein, R (2013) Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3. Hum Mol Genet 10.1093/hmg/ddt115.

Charlesworth, G and Bhatia, KP (2013) Primary and secondary dystonic syndromes: an update. Curr Opin Neurol 10.1097/WCO.0b013e3283633696.

Chhabra, A and Zhao, L and Carrino, JA and Trueblood, E and Koceski, S and Shteriev, F and Lenkinski, L and Sinclair, CD and Andreisek, G (2013) MR Neurography: Advances. Radiol Res Pract , 2013 809568 - ?. 10.1155/2013/809568. An open access publication

Claassen, DO and Jones, CR and Yu, M and Dirnberger, G and Malone, T and Parkinson, M and Giunti, P and Kubovy, M and Jahanshahi, M (2013) Deciphering the impact of cerebellar and basal ganglia dysfunction in accuracy and variability of motor timing. Neuropsychologia , 51 (2) 267 - 274. 10.1016/j.neuropsychologia.2012.09.018.

Claassen, DO and Jones, CRG and Yu, M and Dirnberger, G and Malone, T and Parkinson, M and Giunti, P and Kubovy, M and Jahanshahi, M (2013) Deciphering the impact of cerebellar and basal ganglia dysfunction in accuracy and variability of motor timing. Neuropsychologia , 51 (2) 267 - 274.

Cleeter, MW and Chau, KY and Gluck, C and Mehta, A and Hughes, DA and Duchen, M and Wood, NW and Hardy, J and Mark Cooper, J and Schapira, AH (2013) Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage. Neurochem Int , 62 (1) 1 - 7. 10.1016/j.neuint.2012.10.010. An open access publication

Compta, Y and Revesz, T and Lees, AJ (2013) The more cortical amyloid-, the more postural instability in parkinson's disease: More grist to the mill for a link between walking, falling, and remembering? MOVEMENT DISORDERS , 28 (3) 263 - 264. 10.1002/mds.25283.

Cortese, A and Machado, P and Morrow, J and Dewar, L and Hiscock, A and Miller, A and Brady, S and Hilton-Jones, D and Parton, M and Hanna, MG (2013) Longitudinal observational study of sporadic inclusion body myositis: implications for clinical trials. Neuromuscul Disord , 23 (5) 404 - 412. 10.1016/j.nmd.2013.02.010.

Cortese, A and Machado, P and Morrow, J and Dewar, L and Hiscock, A and Miller, A and Brady, S and Hilton-Jones, D and Parton, M and Hanna, MG (2013) Longitudinal observational study of sporadic inclusion body myositis: Implications for clinical trials. Neuromuscular Disorders , 23 (5) 404 - 412.

Cottenie, E and Menezes, MP and Rossor, AM and Morrow, JM and Yousry, TA and Dick, DJ and Anderson, JR and Jaunmuktane, Z and Brandner, S and Blake, JC and Houlden, H and Reilly, MM (2013) Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. Neuromuscul Disord , 23 (5) 399 - 403. 10.1016/j.nmd.2013.01.010.

Crehan, H and Hardy, J and Pocock, J (2013) Blockage of CR1 prevents activation of rodent microglia. Neurobiol Dis , 54 139 - 149. 10.1016/j.nbd.2013.02.003.

Djamshidian, A and Sanotsky, Y and Matviyenko, Y and O'Sullivan, SS and Sharman, S and Selikhova, M and Fedoryshyn, L and Filts, Y and Bearn, J and Lees, AJ and Averbeck, BB (2013) Increased reflection impulsivity in patients with ephedrone-induced Parkinsonism. Addiction , 108 (4) 771 - 779. 10.1111/add.12080.

Doherty, KM and Davagnanam, I and Molloy, S and Silveira-Moriyama, L and Lees, AJ (2013) Pisa syndrome in Parkinson's disease: a mobile or fixed deformity? J Neurol Neurosurg Psychiatry 10.1136/jnnp-2012-304700.

Doherty, KM and Hardy, J (2013) Parkin disease and the Lewy body conundrum. Movement Disorders 10.1002/mds.25486. An open access publication. A version is also available from UCL Discovery.

Doherty, KM and Rohrer, JD and Lees, AJ and Holton, JL and Warren, J (2013) Primary progressive aphasia with parkinsonism: Clinicopathological case. Mov Disord 10.1002/mds.25341.

Doherty, KM and Silveira-Moriyama, L and Parkkinen, L and Healy, DG and Farrell, M and Mencacci, NE and Ahmed, Z and Brett, FM and Hardy, J and Quinn, N and Counihan, TJ and Lynch, T and Fox, ZV and Revesz, T and Lees, AJ and Holton, JL (2013) Parkin Disease: A Clinicopathologic Entity? JAMA Neurol 1 - 9. 10.1001/jamaneurol.2013.172.

Doherty, KM and Silveira-Moriyama, L and Parkkinen, L and Healy, DG and Farrell, M and Mencacci, NE and Ahmed, Z and Brett, FM and Hardy, J and Quinn, N and Counihan, TJ and Lynch, T and Fox, ZV and Revesz, T and Lees, AJ and Holton, JL (2013) Parkin disease - a clinicopathological entity? In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 11 - 12).

Doherty, KM and Silveira-Moriyama, L and Parkkinen, L and Healy, DG and Farrell, M and Mencacci, NE and Ahmed, Z and Brett, FM and Hardy, J and Quinn, N and Counihan, TJ and Lynch, T and Fox, ZV and Revesz, T and Lees, AJ and Holton, JL (2013) Parkin disease: A clinicopathologic entity? JAMA Neurology , 70 (5) 571 - 579.

Duberley, KE and Abramov, AY and Chalasani, A and Heales, SJ and Rahman, S and Hargreaves, IP (2013) Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment. J Inherit Metab Dis , 36 (1) 63 - 73. 10.1007/s10545-012-9511-0.

Dunlop, MG and Tenesa, A and Farrington, SM and Ballereau, S and Brewster, DH and Koessler, T and Pharoah, P and Schafmayer, C and Hampe, J and Völzke, H and Chang-Claude, J and Hoffmeister, M and Brenner, H and von Holst, S and Picelli, S and Lindblom, A and Jenkins, MA and Hopper, JL and Casey, G and Duggan, D and Newcomb, PA and Abulí, A and Bessa, X and Ruiz-Ponte, C and Castellví-Bel, S and Niittymäki, I and Tuupanen, S and Karhu, A and Aaltonen, L and Zanke, B and Hudson, T and Gallinger, S and Barclay, E and Martin, L and Gorman, M and Carvajal-Carmona, L and Walther, A and Kerr, D and Lubbe, S and Broderick, P and Chandler, I and Pittman, A and Penegar, S and Campbell, H and Tomlinson, I and Houlston, RS (2013) Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals. Gut , 62 (6) 871 - 881. 10.1136/gutjnl-2011-300537.

Duran, R and Mencacci, NE and Angeli, AV and Shoai, M and Deas, E and Houlden, H and Mehta, A and Hughes, D and Cox, TM and Deegan, P and Schapira, AH and Lees, AJ and Limousin, P and Jarman, PR and Bhatia, KP and Wood, NW and Hardy, J and Foltynie, T (2013) The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Mov Disord , 28 (2) 232 - 236. 10.1002/mds.25248.

Duran, R and Mencacci, NE and Angeli, AV and Shoai, M and Deas, E and Houlden, H and Mehta, A and Hughes, D and Cox, TM and Deegan, P and Schapira, AH and Lees, AJ and Limousin, P and Jarman, PR and Bhatia, KP and Wood, NW and Hardy, J and Foltynie, T (2013) The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Movement Disorders , 28 (2) 232 - 236.

Fawcett, K and Mehrabian, M and Liu, Y-T and Hamed, S and Elahi, E and Revesz, T and Koutsis, G and Herscheson, J and Schottlaender, L and Wardle, M and Morrison, PJ and Morris, HR and Giunti, P and Wood, N and Houlden, H (2013) The frequency of spinocerebellar ataxia type 23 in a UK population. Journal of Neurology , 260 (3) 856 - 859.

Fawcett, K and Mehrabian, M and Liu, YT and Hamed, S and Elahi, E and Revesz, T and Koutsis, G and Herscheson, J and Schottlaender, L and Wardle, M and Morrison, PJ and Morris, HR and Giunti, P and Wood, N and Houlden, H (2013) Erratum to: The frequency of spinocerebellar ataxia type 23 in a UK population. J Neurol , 260 (3) 860 - ?. 10.1007/s00415-012-6791-0.

Fawcett, K and Mehrabian, M and Liu, YT and Hamed, S and Elahi, E and Revesz, T and Koutsis, G and Herscheson, J and Schottlaender, L and Wardle, M and Morrison, PJ and Morris, HR and Giunti, P and Wood, N and Houlden, H (2013) The frequency of spinocerebellar ataxia type 23 in a UK population. J Neurol , 260 (3) 856 - 859. 10.1007/s00415-012-6721-1.

Fonteyn, EM and Schmitz-Hübsch, T and Verstappen, CC and Baliko, L and Bloem, BR and Boesch, S and Bunn, L and Giunti, P and Globas, C and Klockgether, T and Melegh, B and Pandolfo, M and Schöls, L and Timmann, D and van de Warrenburg, BP (2013) Prospective analysis of falls in dominant ataxias. Eur Neurol , 69 (1) 53 - 57. 10.1159/000342907.

Fratta, P and Malik, B and Gray, A and La Spada, AR and Hanna, MG and Fisher, EM and Greensmith, L (2013) FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion. Neurobiol Aging , 34 (5) 1516.e17 - 1516.e19. 10.1016/j.neurobiolaging.2012.09.008.

Fratta, P and Malik, B and Gray, A and La Spada, AR and Hanna, MG and Fisher, EMC and Greensmith, L (2013) FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion. Neurobiology of Aging , 34 (5) 1516.e17 - 1516.e19.

Giunti, P and Greenfield, J and Stevenson, AJ and Parkinson, MH and Hartmann, JL and Sandtmann, R and Piercy, J and O'Hara, J and Casas, LR and Smith, FM (2013) Impact of Friedreich's Ataxia on health-care resource utilization in the United Kingdom and Germany. Orphanet J Rare Dis , 8 (1) 38 - ?. 10.1186/1750-1172-8-38. An open access publication

Guerreiro, R and Kara, E and Le Ber, I and Bras, J and Rohrer, JD and Taipa, R and Lashley, T and Dupuits, C and Gurunlian, N and Mochel, F and Warren, JD and Hannequin, D and Sedel, F and Depienne, C and Camuzat, A and Golfier, V and Du Boisguéheneuc, F and Schottlaender, L and Fox, NC and Beck, J and Mead, S and Rossor, MN and Hardy, J and Revesz, T and Brice, A and Houlden, H (2013) Genetic Analysis of Inherited Leukodystrophies: Genotype-Phenotype Correlations in the CSF1R Gene. JAMA Neurol 1 - 9. 10.1001/jamaneurol.2013.698.

Guerreiro, R and Wojtas, A and Bras, J and Carrasquillo, M and Rogaeva, E and Majounie, E and Cruchaga, C and Sassi, C and Kauwe, JS and Younkin, S and Hazrati, L and Collinge, J and Pocock, J and Lashley, T and Williams, J and Lambert, JC and Amouyel, P and Goate, A and Rademakers, R and Morgan, K and Powell, J and St George-Hyslop, P and Singleton, A and Hardy, J and Alzheimer Genetic Analysis Group, (2013) TREM2 variants in Alzheimer's disease. N Engl J Med , 368 (2) 117 - 127. 10.1056/NEJMoa1211851.

Guerreiro, R and Wojtas, A and Bras, J and Carrasquillo, M and Rogaeva, E and Majounie, E and Cruchaga, C and Sassi, C and Kauwe, JSK and Younkin, S and Hazrati, L and Collinge, J and Pocock, J and Lashley, T and Williams, J and Lambert, J-C and Amouyel, P and Goate, A and Rademakers, R and Morgan, K and Powell, J and St George-Hyslop, P and Singleton, A and Hardy, J and Grp, AGA (2013) TREM2 Variants in Alzheimer's Disease. NEW ENGLAND JOURNAL OF MEDICINE , 368 (2) 117 - 127. 10.1056/NEJMoa1211851.

Guerreiro, RJ and Lohmann, E and Brás, JM and Gibbs, JR and Rohrer, JD and Gurunlian, N and Dursun, B and Bilgic, B and Hanagasi, H and Gurvit, H and Emre, M and Singleton, A and Hardy, J (2013) Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol , 70 (1) 78 - 84. 10.1001/jamaneurol.2013.579.

Hammer, MB and Eleuch-Fayache, G and Schottlaender, LV and Nehdi, H and Gibbs, JR and Arepalli, SK and Chong, SB and Hernandez, DG and Sailer, A and Liu, G and Mistry, PK and Cai, H and Shrader, G and Sassi, C and Bouhlal, Y and Houlden, H and Hentati, F and Amouri, R and Singleton, AB (2013) Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet , 92 (2) 245 - 251. 10.1016/j.ajhg.2012.12.012.

Hardy, J (2013) Reply to Letter: Identical twins with leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Mov Disord , 28 (4) 561 - 562. 10.1002/mds.25415.

Hardy, J (2013) Reply to Letter: Identical twins with leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Movement Disorders , 28 (4) 561 - 562.

Harold, D and Abraham, R and Hollingworth, P and Sims, R and Gerrish, A and Hamshere, ML and Pahwa, JS and Moskvina, V and Dowzell, K and Williams, A and Jones, N and Thomas, C and Stretton, A and Morgan, AR and Lovestone, S and Powell, J and Proitsi, P and Lupton, MK and Brayne, C and Rubinsztein, DC and Gill, M and Lawlor, B and Lynch, A and Morgan, K and Brown, KS and Passmore, PA and Craig, D and McGuinness, B and Todd, S and Holmes, C and Mann, D and Smith, AD and Love, S and Kehoe, PG and Hardy, J and Mead, S and Fox, N and Rossor, M and Collinge, J and Maier, W and Jessen, F and Schürmann, B and Heun, R and van den Bussche, H and Heuser, I and Kornhuber, J and Wiltfang, J and Dichgans, M and Frölich, L and Hampel, H and Hüll, M and Rujescu, D and Goate, AM and Kauwe, JS and Cruchaga, C and Nowotny, P and Morris, JC and Mayo, K and Sleegers, K and Bettens, K and Engelborghs, S and De Deyn, PP and Van Broeckhoven, C and Livingston, G and Bass, NJ and Gurling, H and McQuillin, A and Gwilliam, R and Deloukas, P and Al-Chalabi, A and Shaw, CE and Tsolaki, M and Singleton, AB and Guerreiro, R and Mühleisen, TW and Nöthen, MM and Moebus, S and Jöckel, KH and Klopp, N and Wichmann, HE and Carrasquillo, MM and Pankratz, VS and Younkin, SG and Holmans, PA and O'Donovan, M and Owen, MJ and Williams, J (2013) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet , 45 (6) 712 - ?. 10.1038/ng0613-712a.

Haskin, J and Szargel, R and Shani, V and Mekies, LN and Rott, R and Lim, GG and Lim, KL and Bandopadhyay, R and Wolosker, H and Engelender, S (2013) AF-6 is a positive modulator of the PINK1/parkin pathway and is deficient in Parkinson's disease. Hum Mol Genet , 22 (10) 2083 - 2096. 10.1093/hmg/ddt058.

Hehir, MK and Logigian, E and Raja Rayan, DL and Ciafaloni, E (2013) Double trouble in a patient with myotonia. BMJ Case Rep , 2013 10.1136/bcr-2012-008167.

Hersheson, J and Mencacci, NE and Davis, M and MacDonald, N and Trabzuni, D and Ryten, M and Pittman, A and Paudel, R and Kara, E and Fawcett, K and Plagnol, V and Bhatia, KP and Medlar, AJ and Stanescu, HC and Hardy, J and Kleta, R and Wood, NW and Houlden, H (2013) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Annals of Neurology , 73 (4) 546 - 553.

Heslegrave, AJ and Hussain, K (2013) Novel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase. J Clin Endocrinol Metab , 98 (2) 496 - 501. 10.1210/jc.2012-3134.

Holmans, P and Moskvina, V and Jones, L and Sharma, M and International Parkinson's Disease Genomics Consortium, and Vedernikov, A and Buchel, F and Sadd, M and Bras, JM and Bettella, F and Nicolaou, N and Simón-Sánchez, J and Mittag, F and Gibbs, JR and Schulte, C and Durr, A and Guerreiro, R and Hernandez, D and Brice, A and Stefánsson, H and Majamaa, K and Gasser, T and Heutink, P and Wood, NW and Martinez, M and Singleton, AB and Nalls, MA and Hardy, J and Morris, HR and Williams, NM (2013) A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet , 22 (5) 1039 - 1049. 10.1093/hmg/dds492.

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

Holton, P and Ryten, M and Nalls, M and Trabzuni, D and Weale, ME and Hernandez, D and Crehan, H and Gibbs, JR and Mayeux, R and Haines, JL and Farrer, LA and Pericak-Vance, MA and Schellenberg, GD and Alzheimer's Disease Genetics Consortium, and Ramirez-Restrepo, M and Engel, A and Myers, AJ and Corneveaux, JJ and Huentelman, MJ and Dillman, A and Cookson, MR and Reiman, EM and Singleton, A and Hardy, J and Guerreiro, R and Apostolova, LG and Arnold, SE and Baldwin, CT and Barber, R and Barmada, MM and Beach, TG and Beecham, GW and Beekly, D and Bennett, DA and Bigio, EH and Bird, TD and Blacker, D and Boeve, BF and Bowen, JD and Boxer, A and Burke, JR and Buros, J and Buxbaum, JD and Cairns, NJ and Cantwell, LB and Cao, C and Carlson, CS and Carney, RM and Carrasquillo, MM and Carroll, SL and Chui, HC and Clark, DG and Cotman, CW and Crane, PK and Crocco, EA and Cruchaga, C and Cummings, JL and De Jager, PL and DeCarli, C and DeKosky, ST and Demirci, FY and Diaz-Arrastia, R and Dick, M and Dickson, DW and Duara, R and Ellis, WG and Ertekin-Taner, N and Evans, D and Faber, KM and Fallon, KB and Farlow, MR and Ferris, S and Foroud, TM and Frosch, MP and Galasko, DR and Ganguli, M and Gearing, M and Geschwind, DH and Ghetti, B and Gilbert, JR and Gilman, S and Giordani, B and Glass, JD and Goate, AM and Graff-Radford, NR and Green, RC and Growdon, JH and Hakonarson, H and Hamilton, RL and Harrell, LE and Head, E and Honig, LS and Hulette, CM and Hyman, BT and Jarvik, GP and Jicha, GA and Jin, LW and Jun, G and Kamboh, MI and Karlawish, J and Karydas, A and Kauwe, JS and Kaye, JA and Kim, R and Koo, EH and Kowall, NW and Kramer, P and Kukull, WA and Lah, JJ and Larson, EB and Levey, AI and Lieberman, AP and Lopez, OL and Lunetta, KL and Mack, WJ and Marson, DC and Martin, ER and Martiniuk, F and Mash, DC and Masliah, E and McCormick, WC and McCurry, SM and McDavid, AN and McKee, AC and Mesulam, M and Miller, BL and Miller, CA and Miller, JW and Montine, TJ and Morris, JC and Naj, AC and Nowotny, P and Parisi, JE and Peskind, E and Petersen, RC and Poon, WW and Potter, H and Quinn, JF and Raj, A and Rajbhandary, RA and Raskind, M and Reisberg, B and Reitz, C and Ringman, JM and Roberson, ED and Rogaeva, E and Rosenberg, RN and Sano, M and Saykin, AJ and Schneider, JA and Schneider, LS and Seeley, WW and Shelanski, ML and Smith, CD and Sonnen, JA and Spina, S and St George-Hyslop, P and Stern, RA and Tanzi, RE and Trojanowski, JQ and Troncoso, JC and Tsuang, DW and Valladares, O and Van Deerlin, VM and Vardarajan, BN and Vinters, HV and Vonsattel, JP and Wang, LS and Weintraub, S and Welsh-Bohmer, KA and Williamson, J and Woltjer, RL and Wright, CB and Younkin, SG (2013) Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. Ann Hum Genet , 77 (2) 85 - 105. 10.1111/ahg.12000.

Holton, P and Ryten, M and Nalls, M and Trabzuni, D and Weale, ME and Hernandez, D and Crehan, H and Gibbs, JR and Mayeux, R and Haines, JL and Farrer, LA and Pericak-Vance, MA and Schellenberg, GD and Ramirez-Restrepo, M and Engel, A and Myers, AJ and Corneveaux, JJ and Huentelman, MJ and Dillman, A and Cookson, MR and Reiman, EM and Singleton, A and Hardy, J and Guerreiro, R (2013) Initial Assessment of the Pathogenic Mechanisms of the Recently Identified Alzheimer Risk Loci. Annals of Human Genetics , 77 (2) 85 - 105.

Horga, A and Raja Rayan, DL and Matthews, E and Sud, R and Fialho, D and Durran, SC and Burge, JA and Portaro, S and Davis, MB and Haworth, A and Hanna, MG (2013) Prevalence study of genetically defined skeletal muscle channelopathies in England. Neurology , 80 (16) 1472 - 1475. 10.1212/WNL.0b013e31828cf8d0.

Hudson, G and Nalls, M and Evans, JR and Breen, DP and Winder-Rhodes, S and Morrison, KE and Morris, HR and Williams-Gray, CH and Barker, RA and Singleton, AB and Hardy, J and Wood, NE and Burn, DJ and Chinnery, PF (2013) Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease. Neurology , 80 (22) 2042 - 2048. 10.1212/WNL.0b013e318294b434.

Jacobi, H and Rakowicz, M and Rola, R and Fancellu, R and Mariotti, C and Charles, P and Dürr, A and Küper, M and Timmann, D and Linnemann, C and Schöls, L and Kaut, O and Schaub, C and Filla, A and Baliko, L and Melegh, B and Kang, JS and Giunti, P and van de Warrenburg, BP and Fimmers, R and Klockgether, T (2013) Inventory of Non-Ataxia Signs (INAS): Validation of a New Clinical Assessment Instrument. Cerebellum , 12 (3) 418 - 428. 10.1007/s12311-012-0421-3.

Jenkinson, EM and Rehman, AU and Walsh, T and Clayton-Smith, J and Lee, K and Morell, RJ and Drummond, MC and Khan, SN and Naeem, MA and Rauf, B and Billington, N and Schultz, JM and Urquhart, JE and Lee, MK and Berry, A and Hanley, NA and Mehta, S and Cilliers, D and Clayton, PE and Kingston, H and Smith, MJ and Warner, TT and Black, GC and Trump, D and Davis, JRE and Ahmad, W and Leal, SM and Riazuddin, S and King, M-C and Friedman, TB and Newman, WG and Washington, U (2013) Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease. AMERICAN JOURNAL OF HUMAN GENETICS , 92 (4) 605 - 613. 10.1016/j.ajhg.2013.02.013.

Kamynina, AV and Filatova, MP and Koroev, DO and Abramov, AY and Volpina, OM (2013) Antibodies to synthetic fragment 95-123 of the prion protein protect neurons and astrocytes from beta-amyloid toxicity. RUSSIAN JOURNAL OF BIOORGANIC CHEMISTRY , 39 (2) 113 - 120. 10.1134/S1068162013020076.

Kamynina, AV and Holmström, KM and Koroev, DO and Volpina, OM and Abramov, AY (2013) Acetylcholine and antibodies against the acetylcholine receptor protect neurons and astrocytes against beta-amyloid toxicity. Int J Biochem Cell Biol , 45 (4) 899 - 907. 10.1016/j.biocel.2013.01.011.

Kara, E and Lewis, PA and Ling, H and Proukakis, C and Houlden, H and Hardy, J (2013) α-Synuclein mutations cluster around a putative protein loop. Neurosci Lett , 546 67 - 70. 10.1016/j.neulet.2013.04.058.

Kazachkova, N and Raposo, M and Montiel, R and Cymbron, T and Bettencourt, C and Silva-Fernandes, A and Silva, S and MacIel, P and Lima, M (2013) Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of machado-joseph disease. Neurodegenerative Diseases , 11 (4) 206 - 214.

Keller, MF and Saad, M and Bras, J and Bettella, F and Nicolaou, N and Simon-Sanchez, J and Mittag, F and Buechel, F and Sharma, M and Gibbs, JR and Schulte, C and Moskvina, V and Durr, A and Holmans, P and Kilarski, LL and Guerreiro, R and Hernandez, DG and Brice, A and Ylikotila, P and Stefansson, H and Majamaa, K and Morris, HR and Williams, N and Gasser, T and Heutink, P and Wood, NW and Hardy, J and Martinez, M and Singleton, AB and Nalls, MA and IPDGC, and WTCCC2, (2013) Using genome-wide complex trait analysis to quantify missing heritability in Parkinsons disease (vol 21, pg 4996, 2012). HUMAN MOLECULAR GENETICS , 22 (8) 1696 - 1696. 10.1093/hmg/ddt030.

Khan, TA and Shah, T and Prieto, D and Zhang, W and Price, J and Fowkes, GR and Cooper, J and Talmud, PJ and Humphries, SE and Sundstrom, J and Hubacek, JA and Ebrahim, S and Lawlor, DA and Ben-Shlomo, Y and Abdollahi, MR and Slooter, AJ and Szolnoki, Z and Sandhu, M and Wareham, N and Frikke-Schmidt, R and Tybjærg-Hansen, A and Fillenbaum, G and Heijmans, BT and Katsuya, T and Gromadzka, G and Singleton, A and Ferrucci, L and Hardy, J and Worrall, B and Rich, SS and Matarin, M and Whittaker, J and Gaunt, TR and Whincup, P and Morris, R and Deanfield, J and Donald, A and Davey Smith, G and Kivimaki, M and Kumari, M and Smeeth, L and Khaw, KT and Nalls, M and Meschia, J and Sun, K and Hui, R and Day, I and Hingorani, AD and Casas, JP (2013) Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and meta-analysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals. Int J Epidemiol , 42 (2) 475 - 492. 10.1093/ije/dyt034.

Kiely, AP and Asi, YT and Kara, E and Limousin, P and Ling, H and Lewis, P and Proukakis, C and Quinn, N and Lees, AJ and Hardy, J and Revesz, T and Houlden, H and Holton, JL (2013) α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathologica , 125 (5) 753 - 769. 10.1007/s00401-013-1096-7. An open access publication. A version is also available from UCL Discovery.

Kiely, AP and Asi, YT and Kara, E and Limousin, P and Ling, H and Lewis, P and Proukakis, C and Quinn, N and Lees, AJ and Hardy, J and Revesz, T and Houlden, H and Holton, JL (2013) Synucleinopathy with a G51D a-synuclein mutation: a neuropathological and genetic study. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 39 - 40).

Kinghorn, KJ and Kaliakatsos, M and Blakely, EL and Taylor, RW and Rich, P and Clarke, A and Omer, S (2013) Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations. J Neurol , 260 (1) 3 - 9. 10.1007/s00415-012-6564-9.

Klebe, S and Golmard, JL and Nalls, MA and Saad, M and Singleton, AB and Bras, JM and Hardy, J and Simon-Sanchez, J and Heutink, P and Kuhlenbäumer, G and Charfi, R and Klein, C and Hagenah, J and Gasser, T and Wurster, I and Lesage, S and Lorenz, D and Deuschl, G and Durif, F and Pollak, P and Damier, P and Tison, F and Durr, A and Amouyel, P and Lambert, JC and Tzourio, C and Maubaret, C and Charbonnier-Beaupel, F and Tahiri, K and Vidailhet, M and Martinez, M and Brice, A and Corvol, JC and Agid, Y and Anheim, M and Bonnet, A-M and Borg, M and Broussolle, E and Corvol, J-C and Damier, P and Destée, A and Lohmann, E and Penet, C and Krack, P and Rascol, O and Tranchant, C and Vérin, M and Viallet, F and Plagnol, V and Hernandez, DG and Sharma, M and Sheerin, U-M and Schulte, C and Sveinbjörnsdóttir, S and Arepalli, S and Band, G and Vukcevic, D and Barker, RA and Bellinguez, C and Ben-Shlomo, Y and Berendse, HW and Berg, D and Bhatia, K and De Bie, RMA and Biffi, A and Bloem, B and Bochdanovits, Z and Bonin, M and Brockmann, K and Brooks, J and Burn, DJ and Charlesworth, G and Chen, H and Chinnery, PF and Chong, S and Clarke, CE and Cookson, MR and Cooper, JM and Counsell, C and Dartigues, JF and Deloukas, P and Dexter, DT and Van Dijk, KD and Dillman, A and Edkins, S and Evans, JR and Foltynie, T and Freeman, C and Gao, J and Gardner, M and Gibbs, R and Goate, A and Gray, E and Guerreiro, R and Gústafsson, O and Harris, C and Hellenthal, G and Van Hilten, JJ and Hofman, A and Hollenbeck, A and Holton, J and Hu, M and Huang, X and Huber, H and Hudson, G and Hunt, SE and Huttenlocher, J and Illig, T and Jónsson, PV and Langford, C and Lees, A and Lichtner, P and Limousin, P and Lopez, G and McNeill, A and Moorby, C and Moore, M and Morris, H and Morrison, KE and Mudanohwo, E and O'Sullivan, SS and Pearson, J and Pearson, R and Perlmutter, JS and Pétursson, H and Pirinen, M and Post, B and Ravina, B and Revesz, T and Riess, O and Rivadeneira, F and Rizzu, P and Ryten, M and Sawcer, S and Schapira, A and Scheffer, H and Shaw, K and Shoulson, I and Sidransky, E and De Silva, R and Smith, C and Spencer, CCA and Stefánsson, H and Steinberg, S and Stockton, JD and Strange, A and Su, Z and Talbot, K and Tanner, CM and Tashakkori-Ghanbaria, A and Trabzuni, D and Traynor, BJ and Uitterlinden, AG and Vandrovcova, J and Velseboer, D and Marie, V and Walker, R and Van De Warrenburg, B and Weale, ME and Wickremaratchi, M and Williams, N and Williams-Gray, CH and Winder-Rhodes, S and Stefánsson, K and Wood, NW (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 and Psychiatry , 84 (6) 666 - 673. 10.1136/jnnp-2012-304475. An open access publication. A version is also available from UCL Discovery.

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

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

Kovac, S and Abramov, AY and Walker, MC (2013) Energy depletion in seizures: anaplerosis as a strategy for future therapies. Neuropharmacology , 69 96 - 104. 10.1016/j.neuropharm.2012.05.012.

Kumar, A and Gibbs, JR and Beilina, A and Dillman, A and Kumaran, R and Trabzuni, D and Ryten, M and Walker, R and Smith, C and Traynor, BJ and Hardy, J and Singleton, AB and Cookson, MR (2013) Age-associated changes in gene expression in human brain and isolated neurons. Neurobiol Aging , 34 (4) 1199 - 1209. 10.1016/j.neurobiolaging.2012.10.021.

Kumar, A and Gibbs, JR and Beilina, A and Dillman, A and Kumaran, R and Trabzuni, D and Ryten, M and Walker, R and Smith, C and Traynor, BJ and Hardy, J and Singleton, AB and Cookson, MR (2013) Age-associated changes in gene expression in human brain and isolated neurons. Neurobiology of Aging , 34 (4) 1199 - 1209.

Lashley, T and Hardy, J and Isaacs, AM (2013) RANTing about C9orf72. Neuron , 77 (4) 597 - 598. 10.1016/j.neuron.2013.02.009.

Lashley, T and Rohrer, JD and Mahoney, CJ and Polke, JM and Ryan, NS and Isaacs, A and Mead, S and Warren, JD and Revesz, T (2013) Clinical and pathological features of frontotemporal dementia linked to C9ORF72 homozygosity. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 30 - 31).

Lee, W and Simpson, M and Ling, H and McLean, C and Collins, S and Williams, DR (2013) Characterising the uncommon corticobasal syndrome presentation of sporadic Creutzfeldt-Jakob disease. Parkinsonism Relat Disord , 19 (1) 81 - 85. 10.1016/j.parkreldis.2012.07.010.

LeishGEN Consortium, and Wellcome Trust Case Control Consortium 2, and Fakiola, M and Strange, A and Cordell, HJ and Miller, EN and Pirinen, M and Su, Z and Mishra, A and Mehrotra, S and Monteiro, GR and Band, G and Bellenguez, C and Dronov, S and Edkins, S and Freeman, C and Giannoulatou, E and Gray, E and Hunt, SE and Lacerda, HG and Langford, C and Pearson, R and Pontes, NN and Rai, M and Singh, SP and Smith, L and Sousa, O and Vukcevic, D and Bramon, E and Brown, MA and Casas, JP and Corvin, A and Duncanson, A and Jankowski, J and Markus, HS and Mathew, CG and Palmer, CN and Plomin, R and Rautanen, A and Sawcer, SJ and Trembath, RC and Viswanathan, AC and Wood, NW and Wilson, ME and Deloukas, P and Peltonen, L and Christiansen, F and Witt, C and Jeronimo, SM and Sundar, S and Spencer, CC and Blackwell, JM and Donnelly, P (2013) Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis. Nat Genet , 45 (2) 208 - 213. 10.1038/ng.2518.

Li, A and Paudel, R and Johnson, R and Courtney, R and Lees, AJ and Holton, JL and Hardy, J and Revesz, T and Houlden, H (2013) Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Neuropathology and Applied Neurobiology , 39 (2) pp. 121-131. 10.1111/j.1365-2990.2012.01269.x. An open access publication. A version is also available from UCL Discovery.

Ling, H and de Silva, R and Massey, LA and Courtney, R and Hondhamuni, G and Bajaj, N and Lowe, J and Holton, JL and Lees, A and Revesz, T (2013) Characteristics of progressive supranuclear palsy presenting with corticobasal syndrome: a cortical variant. Neuropathol Appl Neurobiol 10.1111/nan.12037.

Ling, H and Holton, JL and Lees, AJ and Revesz, T (2013) TDP-43 pathology is present in most post-encephalitic parkinsonism brains. Neuropathol Appl Neurobiol 10.1111/nan.12067.

Ling, H and Kara, E and Bandopadhyay, R and Hardy, J and Holton, J and Xiromerisiou, G and Lees, A and Houlden, H and Revesz, T (2013) TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT. Neurobiol Aging 10.1016/j.neurobiolaging.2013.04.011.

Ling, H and Petrovic, IN and Lang, AE and Lees, AJ (2013) Reply to letter: Multiple system atrophy-parkinsonism with slow progression and prolonged survival: a diagnostic catch. Mov Disord , 28 (3) 408 - ?. 10.1002/mds.25288.

Magdalinou, NK and Ling, H and Smith, JD and Schott, JM and Watkins, LD and Lees, AJ (2013) Normal pressure hydrocephalus or progressive supranuclear palsy? A clinicopathological case series. In: J Neurol. (pp. 1009 - 1013).

Majounie, E and Cross, W and Newsway, V and Dillman, A and Vandrovcova, J and Morris, CM and Nalls, MA and Ferrucci, L and Owen, MJ and O'Donovan, MC and Cookson, MR and Singleton, AB and de Silva, R and Morris, HR (2013) Variation in tau isoform expression in different brain regions and disease states. Neurobiology of Aging , 34 (7) 1922.e7 - e12.

Malik, B and Nirmalananthan, N and Gray, AL and La Spada, AR and Hanna, MG and Greensmith, L (2013) Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy. Brain , 136 (Pt 3) 926 - 943. 10.1093/brain/aws343.

Mamais, A and Raja, M and Manzoni, C and Dihanich, S and Lees, A and Moore, D and Lewis, PA and Bandopadhyay, R (2013) Divergent α-synuclein solubility and aggregation properties in G2019S LRRK2 Parkinson's disease brains with Lewy Body pathology compared to idiopathic cases. Neurobiol Dis 10.1016/j.nbd.2013.05.017.

Manzoni, C and Lewis, PA (2013) Dysfunction of the autophagy/lysosomal degradation pathway is a shared feature of the genetic synucleinopathies. FASEB J 10.1096/fj.12-223842.

Manzoni, C and Mamais, A and Dihanich, S and Tooze, S and Bandopadhyay, R and Lewis, PA (2013) LRRK2 regulates autophagy. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 10 - 10).

Massey, LA and Jäger, HR and Paviour, DC and O'Sullivan, SS and Ling, H and Williams, DR and Kallis, C and Holton, J and Revesz, T and Burn, DJ and Yousry, T and Lees, AJ and Fox, NC and Micallef, C (2013) The midbrain to pons ratio: A simple and specific MRI sign of progressive supranuclear palsy. Neurology , 80 (20) 1856 - 1861. 10.1212/WNL.0b013e318292a2d2.

Metz, G and Coppard, N and Cooper, JM and Delatycki, MB and Dürr, A and Di Prospero, NA and Giunti, P and Lynch, DR and Schulz, JB and Rummey, C and Meier, T (2013) Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: Analysis of a 603-patient database. Brain , 136 (1) 259 - 268.

Modic, M and Ule, J and Sibley, CR (2013) CLIPing the brain: Studies of protein-RNA interactions important for neurodegenerative disorders. Mol Cell Neurosci 10.1016/j.mcn.2013.04.002.

Mok, K and Laaksovirta, H and Tienari, PJ and Peuralinna, T and Myllykangas, L and Chiò, A and Traynor, BJ and Nalls, MA and Gurunlian, N and Shatunov, A and Restagno, G and Mora, G and Nigel Leigh, P and Shaw, CE and Morrison, KE and Shaw, PJ and Al-Chalabi, A and Hardy, J and Orrell, RW (2013) Homozygosity analysis in amyotrophic lateral sclerosis. Eur J Hum Genet 10.1038/ejhg.2013.59.

Morrow, JM and Pitceathly, RD and Quinlivan, RM and Yousry, TA (2013) Muscle MRI in Bethlem myopathy. BMJ Case Rep , 2013 10.1136/bcr-2013-008596.

Nesbitt, V and Pitceathly, RD and Turnbull, DM and Taylor, RW and Sweeney, MG and Mudanohwo, EE and Rahman, S and Hanna, MG and McFarland, R (2013) The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2012-303528.

Oates, EC and Rossor, AM and Hafezparast, M and Gonzalez, M and Speziani, F and Macarthur, DG and Lek, M and Cottenie, E and Scoto, M and Foley, AR and Hurles, M and Houlden, H and Greensmith, L and Auer-Grumbach, M and Pieber, TR and Strom, TM and Schule, R and Herrmann, DN and Sowden, JE and Acsadi, G and Menezes, MP and Clarke, NF and Züchner, S and UK10K, and Muntoni, F and North, KN and Reilly, MM (2013) Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia. Am J Hum Genet 10.1016/j.ajhg.2013.04.018.

Pannee, J and Portelius, E and Oppermann, M and Atkins, A and Hornshaw, M and Zegers, I and Höjrup, P and Minthon, L and Hansson, O and Zetterberg, H and Blennow, K and Gobom, J (2013) A selected reaction monitoring (SRM)-based method for absolute quantification of Aβ38, Aβ40, and Aβ42 in cerebrospinal fluid of Alzheimer's Disease patients and healthy controls. J Alzheimers Dis , 33 (4) 1021 - 1032. 10.3233/JAD-2012-121471.

Peall, KJ and Smith, DJ and Kurian, MA and Wardle, M and Waite, AJ and Hedderly, T and Lin, J-P and Smith, M and Whone, A and Pall, H and White, C and Lux, A and Jardine, P and Bajaj, N and Lynch, B and Kirov, G and O'Riordan, S and Samuel, M and Lynch, T and King, MD and Chinnery, PF and Warner, TT and Blake, DJ and Owen, MJ and Morris, HR (2013) SGCE mutations cause psychiatric disorders: Clinical and genetic characterization. Brain , 136 (1) 294 - 303.

Peall, KJ and Smith, DJ and Kurian, MA and Wardle, M and Waite, AJ and Hedderly, T and Lin, JP and Smith, M and Whone, A and Pall, H and White, C and Lux, A and Jardine, P and Bajaj, N and Lynch, B and Kirov, G and O'Riordan, S and Samuel, M and Lynch, T and King, MD and Chinnery, PF and Warner, TT and Blake, DJ and Owen, MJ and Morris, HR (2013) SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain , 136 (Pt 1) 294 - 303. 10.1093/brain/aws308.

Petrovic, IN and Martin-Bastida, A and Massey, L and Ling, H and O'Sullivan, SS and Williams, DR and Holton, JL and Revesz, T and Ironside, JW and Lees, AJ and Silveira-Moriyama, L (2013) MM2 subtype of sporadic Creutzfeldt-Jakob disease may underlie the clinical presentation of progressive supranuclear palsy. J Neurol , 260 (4) 1031 - 1036. 10.1007/s00415-012-6752-7.

Petrovic, IN and Martin-Bastida, A and Massey, L and Ling, H and O'Sullivan, SS and Williams, DR and Holton, JL and Revesz, T and Ironside, JW and Lees, AJ and Silveira-Moriyama, L (2013) MM2 subtype of sporadic Creutzfeldt-Jakob disease may underlie the clinical presentation of progressive supranuclear palsy. Journal of Neurology , 260 (4) 1031 - 1036.

Pitceathly, RD and Tomlinson, SE and Hargreaves, I and Bhardwaj, N and Holton, JL and Morrow, JM and Evans, J and Smith, C and Fratter, C and Woodward, CE and Sweeney, MG and Rahman, S and Hanna, MG (2013) Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations. J Neurol Neurosurg Psychiatry , 84 (1) 107 - 110. 10.1136/jnnp-2012-303232.

Pitceathly, RDS and Tomlinson, SE and Hargreaves, I and Bhardwaj, N and Holton, JL and Morrow, JM and Evans, J and Smith, C and Fratter, C and Woodward, CE and Sweeney, MG and Rahman, S and Hanna, MG (2013) Distal myopathy with cachexia: An unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations. Journal of Neurology, Neurosurgery and Psychiatry , 84 (1) 107 - 110.

Portaro, S and Musumeci, O and Rizzo, V and Rodolico, C and Sweeney, MG and Buccafusca, M and Hanna, MG and Toscano, A (2013) Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita. Neuromuscul Disord , 23 (1) 52 - 55. 10.1016/j.nmd.2012.07.005.

Portaro, S and Musumeci, O and Rizzo, V and Rodolico, C and Sweeney, MG and Buccafusca, M and Hanna, MG and Toscano, A (2013) Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita. Neuromuscular Disorders , 23 (1) 52 - 55.

Portelius, E and Olsson, M and Brinkmalm, G and Rüetschi, U and Mattsson, N and Andreasson, U and Gobom, J and Brinkmalm, A and Hölttä, M and Blennow, K and Zetterberg, H (2013) Mass spectrometric characterization of amyloid-β species in the 7PA2 cell model of Alzheimer's disease. J Alzheimers Dis , 33 (1) 85 - 93. 10.3233/JAD-2012-120994.

Pressey, SN and Murray, CE and Heywood, W and Gentleman, SM and Mills, K and Holton, JL and Gandhi, S and Revesz, T (2013) Uncovering early markers of Parkinson's disease pathological progression using proteomics. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 24 - 24).

Proukakis, C and Houlden, H and Schapira, AH (2013) Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data. Mov Disord 10.1002/mds.25502.

Rajakulendran, S and Roberts, J and Koltzenburg, M and Hanna, MG and Stewart, H (2013) Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2012-304555.

Rajan, S and Bandopadhyay, R and Kingsbury, A and Ayling, H and Sterlacci, W and Poewe, W and Maier, H and Ezquerro, M-TH and Lees, AJ and Revesz, T and Silveira-Moriyama, L (2013) Using the anterior olfactory nucleus to study Lewy pathology in olfactory structures. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 49 - 50).

Rajan, S and Parsons, L and Lees, AJ and Silveira-Moriyama, L (2013) Availability of olfactory bulb: experience from a British Brain Bank. Arq Neuropsiquiatr , 71 (2) 110 - 112.

Ramasamy, A and Trabzuni, D and Gibbs, JR and Dillman, A and Hernandez, DG and Arepalli, S and Walker, R and Smith, C and Ilori, GP and Shabalin, AA and Li, Y and Singleton, AB and Cookson, MR and NABEC, and Hardy, J and UKBEC, and Ryten, M and Weale, ME (2013) Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies. Nucleic Acids Research , 41 (7) , Article e88. 10.1093/nar/gkt069. An open access publication. A version is also available from UCL Discovery.

Reinsfelt, B and Westerlind, A and Blennow, K and Zetterberg, H and Ricksten, SE (2013) Open-heart surgery increases cerebrospinal fluid levels of Alzheimer-associated amyloid β. Acta Anaesthesiol Scand , 57 (1) 82 - 88. 10.1111/j.1399-6576.2012.02769.x.

Rubio-Agusti, I and Pareés, I and Kojovic, M and Stamelou, M and Saifee, TA and Charlesworth, G and Sheerin, UM and Edwards, MJ and Bhatia, KP (2013) Tremulous cervical dystonia is likely to be familial: Clinical characteristics of a large cohort. Parkinsonism Relat Disord , 19 (6) 634 - 638. 10.1016/j.parkreldis.2013.02.017.

Sallum, AM and Varsani, H and Holton, JL and Marie, SK and Wedderburn, LR (2013) Morphometric analyses of normal pediatric brachial biceps and quadriceps muscle tissue. Histol Histopathol , 28 (4) 525 - 530.

Saul, A and Lashley, T and Revesz, T and Holton, J and Ghiso, JA and Coomaraswamy, J and Wirths, O (2013) Abundant pyroglutamate-modified ABri and ADan peptides in extracellular and vascular amyloid deposits in familial British and Danish dementias. NEUROBIOLOGY OF AGING , 34 (5) 1416 - 1425. 10.1016/j.neurobiolaging.2012.11.014.

Saul, A and Lashley, T and Revesz, T and Holton, J and Ghiso, JA and Coomaraswamy, J and Wirths, O (2013) Abundant pyroglutamate-modified ABri and ADan peptides in extracellular and vascular amyloid deposits in familial British and Danish dementias. Neurobiology of Aging , 34 (5) 1416 - 1425.

Scahill, RI and Ridgway, GR and Bartlett, JW and Barnes, J and Ryan, NS and Mead, S and Beck, J and Clarkson, MJ and Crutch, SJ and Schott, JM and Ourselin, S and Warren, JD and Hardy, J and Rossor, MN and Fox, NC (2013) Genetic influences on atrophy patterns in familial Alzheimer's Disease: a comparison of APP and PSEN1 mutations. J Alzheimers Dis , 35 (1) 199 - 212. 10.3233/JAD-121255.

Scharf, JM and Yu, D and Mathews, CA and Neale, BM and Stewart, SE and Fagerness, JA and Evans, P and Gamazon, E and Edlund, CK and Service, SK and Tikhomirov, A and Osiecki, L and Illmann, C and Pluzhnikov, A and Konkashbaev, A and Davis, LK and Han, B and Crane, J and Moorjani, P and Crenshaw, AT and Parkin, MA and Reus, VI and Lowe, TL and Rangel-Lugo, M and Chouinard, S and Dion, Y and Girard, S and Cath, DC and Smit, JH and King, RA and Fernandez, TV and Leckman, JF and Kidd, KK and Kidd, JR and Pakstis, AJ and State, MW and Herrera, LD and Romero, R and Fournier, E and Sandor, P and Barr, CL and Phan, N and Gross-Tsur, V and Benarroch, F and Pollak, Y and Budman, CL and Bruun, RD and Erenberg, G and Naarden, AL and Lee, PC and Weiss, N and Kremeyer, B and Berrío, GB and Campbell, DD and Cardona Silgado, JC and Ochoa, WC and Mesa Restrepo, SC and Muller, H and Valencia Duarte, AV and Lyon, GJ and Leppert, M and Morgan, J and Weiss, R and Grados, MA and Anderson, K and Davarya, S and Singer, H and Walkup, J and Jankovic, J and Tischfield, JA and Heiman, GA and Gilbert, DL and Hoekstra, PJ and Robertson, MM and Kurlan, R and Liu, C and Gibbs, JR and Singleton, A and North American Brain Expression Consortium, and Hardy, J and UK Human Brain Expression Database, and Strengman, E and Ophoff, RA and Wagner, M and Moessner, R and Mirel, DB and Posthuma, D and Sabatti, C and Eskin, E and Conti, DV and Knowles, JA and Ruiz-Linares, A and Rouleau, GA and Purcell, S and Heutink, P and Oostra, BA and McMahon, WM and Freimer, NB and Cox, NJ and Pauls, DL (2013) Genome-wide association study of Tourette's syndrome. In: Mol Psychiatry. (pp. 721 - 728).

Schneider, SA and Dusek, P and Hardy, J and Westenberger, A and Jankovic, J and Bhatia, KP (2013) Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). CURRENT NEUROPHARMACOLOGY , 11 (1) 59 - 79.

Selikhova, M and Kempster, PA and Revesz, T and Holton, JL and Lees, AJ (2013) Neuropathological findings in benign tremulous parkinsonism. Mov Disord , 28 (2) 145 - 152. 10.1002/mds.25220.

Selikhova, M and Kempster, PA and Revesz, T and Holton, JL and Lees, AJ (2013) Neuropathological findings in benign tremulous Parkinsonism. Movement Disorders , 28 (2) 145 - 152.

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

Siddall, HK and Yellon, DM and Ong, SB and Mukherjee, UA and Burke, N and Hall, AR and Angelova, PR and Ludtmann, MH and Deas, E and Davidson, SM and Mocanu, MM and Hausenloy, DJ (2013) Loss of PINK1 Increases the Heart's Vulnerability to Ischemia-Reperfusion Injury. PLoS One , 8 (4) , Article e62400 . 10.1371/journal.pone.0062400. An open access publication. A version is also available from UCL Discovery.

Smith, MD and Seth, JH and Hanna, MG and Panicker, JN (2013) Detrusor overactivity in Becker muscular dystrophy. Muscle Nerve , 47 (3) 464 - 465. 10.1002/mus.23623.

Smithen, M and Elustondo, PA and Winkfein, R and Zakharian, E and Abramov, AY and Pavlov, E (2013) Role of polyhydroxybutyrate in mitochondrial calcium uptake. Cell Calcium 10.1016/j.ceca.2013.04.006.

Stamelou, M and Adams, M and Davagnanam, I and Batla, A and Sheerin, U and Talbot, K and Bhatia, KP (2013) Progressive ataxia and palatal tremor associated with dense pontine calcification: A unique case. Mov Disord 10.1002/mds.25310.

Stevens, JC and Murphy, SM and Davagnanam, I and Phadke, R and Anderson, G and Nethisinghe, S and Bremner, F and Giunti, P and Reilly, MM (2013) The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits. J Neurol Neurosurg Psychiatry , 84 (1) 114 - 116. 10.1136/jnnp-2012-303634.

Sun, W and Wagnon, JL and Mahaffey, CL and Briese, M and Ule, J and Frankel, WN (2013) Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice. J Physiol , 591 241 - 255. 10.1113/jphysiol.2012.240168.

Suwanjang, W and Abramov, AY and Govitrapong, P and Chetsawang, B (2013) Melatonin attenuates dexamethasone toxicity-induced oxidative stress, calpain and caspase activation in human neuroblastoma SH-SY5Y cells. J Steroid Biochem Mol Biol 10.1016/j.jsbmb.2013.04.008.

Suwanjang, W and Holmström, KM and Chetsawang, B and Abramov, AY (2013) Glucocorticoids reduce intracellular calcium concentration and protects neurons against glutamate toxicity. Cell Calcium , 53 (4) 256 - 263. 10.1016/j.ceca.2012.12.006.

Swirski, MI and Miners, JS and de Silva, R and Love, S (2013) A beta may promote the formation of Lewy bodies by increasing phosphorylation of alpha-synuclein at Ser129. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 12 - 13).

Tomlinson, SE and Rajakulendran, S and Tan, SV and Graves, TD and Bamiou, DE and Labrum, RW and Burke, D and Sue, CM and Giunti, P and Schorge, S and Kullmann, DM and Hanna, MG (2013) Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. J Neurol Neurosurg Psychiatry 10.1136/jnnp-2012-304131.

Toot, S and Hoe, J and Ledgerd, R and Burnell, K and Devine, M and Orrell, M (2013) Causes of crises and appropriate interventions: the views of people with dementia, carers and healthcare professionals. Aging Ment Health , 17 (3) 328 - 335. 10.1080/13607863.2012.732037.

Tucci, A and Kara, E and Schossig, A and Wolf, NI and Plagnol, V and Fawcett, K and Paisán-Ruiz, C and Moore, M and Hernandez, D and Musumeci, S and Tennison, M and Hennekam, R and Palmeri, S and Malandrini, A and Raskin, S and Donnai, D and Hennig, C and Tzschach, A and Hordijk, R and Bast, T and Wimmer, K and Lo, C-N and Shorvon, S and Mefford, H and Eichler, EE and Hall, R and Hayes, I and Hardy, J and Singleton, A and Zschocke, J and Houlden, H (2013) Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. Human Mutation , 34 (2) 296 - 300.

Tucci, A and Kara, E and Schossig, A and Wolf, NI and Plagnol, V and Fawcett, K and Paisán-Ruiz, C and Moore, M and Hernandez, D and Musumeci, S and Tennison, M and Hennekam, R and Palmeri, S and Malandrini, A and Raskin, S and Donnai, D and Hennig, C and Tzschach, A and Hordijk, R and Bast, T and Wimmer, K and Lo, CN and Shorvon, S and Mefford, H and Eichler, EE and Hall, R and Hayes, I and Hardy, J and Singleton, A and Zschocke, J and Houlden, H (2013) Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat , 34 (2) 296 - 300. 10.1002/humu.22241.

Vaarmann, A and Kovac, S and Holmström, KM and Gandhi, S and Abramov, AY (2013) Dopamine protects neurons against glutamate-induced excitotoxicity. Cell Death Dis , 4 e455 - ?. 10.1038/cddis.2012.194. An open access publication

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

Xiromerisiou, G and Dardiotis, E and Tsironi, EE and Hadjigeorgiou, G and Ralli, S and Kara, E and Petalas, A and Tachmitzi, S and Hardy, J and Houlden, H (2013) THAP1 mutations in a Greek primary blepharospasm series. Parkinsonism Relat Disord , 19 (3) 404 - 405. 10.1016/j.parkreldis.2012.08.015.

Xiromerisiou, G and Dardiotis, E and Tsironi, EE and Hadjigeorgiou, G and Ralli, S and Kara, E and Petalas, A and Tachmitzi, S and Hardy, J and Houlden, H (2013) THAP1 mutations in a Greek primary blepharospasm series. Parkinsonism and Related Disorders , 19 (3) 404 - 405.

2012

Abeti, R and Duchen, MR (2012) Activation of PARP by oxidative stress induced by β-amyloid: implications for Alzheimer's disease. Neurochem Res , 37 (11) 2589 - 2596. 10.1007/s11064-012-0895-x.

Abeti, R and Duchen, MR (2012) Activation of PARP by Oxidative Stress Induced by β-Amyloid: Implications for Alzheimer's Disease. Neurochemical Research 1 - 8.

Ahmed, M and Miller, A and Hanna, MG and Greensmith, L (2012) Investigating the effects of pharmacological up-regulation of the heat shock response in an in-vitro model of sporadic inclusion body myositis. In: NEUROMUSCULAR DISORDERS. (pp. S26 - S26).

Ahmed, Z and Asi, YT and Sailer, A and Lees, AJ and Houlden, H and Revesz, T and Holton, JL (2012) The neuropathology, pathophysiology and genetics of multiple system atrophy. Neuropathol Appl Neurobiol , 38 (1) 4 - 24. 10.1111/j.1365-2990.2011.01234.x.

Ahmed, Z and Revesz, T and Holton, JL (2012) Neuropathology and pathophysiology of multiple system atrophy Response. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY , 38 (4) 381 - 381. 10.1111/j.1365-2990.2012.01266.x.

Ahmed, Z and Revesz, T and Holton, JL (2012) Authors response to scientific correspondence. Neuropathology and Applied Neurobiology , 38 (4) 381 - 381.

Andreasson, U and Vanmechelen, E and Shaw, LM and Zetterberg, H and Vanderstichele, H (2012) Analytical aspects of molecular Alzheimer's disease biomarkers. Biomark Med , 6 (4) 377 - 389. 10.2217/bmm.12.44.

Anko, ML and Muller-McNicoll, M and Brandl, H and Curk, T and Gorup, C and Henry, I and Ule, J and Neugebauer, KM (2012) The RNA-binding landscapes of two SR proteins reveal unique functions and binding to diverse RNA classes. Genome biology , 13 R17 - ?. 10.1186/gb-2012-13-3-r17.

Bartlett, JW and Frost, C and Mattsson, N and Skillbäck, T and Blennow, K and Zetterberg, H and Schott, JM (2012) Determining cut-points for Alzheimer's disease biomarkers: statistical issues, methods and challenges. Biomark Med , 6 (4) 391 - 400. 10.2217/bmm.12.49.

Baruch, N and Duchen, M and Hanna, MG (2012) Muscle degeneration in ion channel dysfunction. In: NEUROMUSCULAR DISORDERS. (pp. S16 - S16).

Beall, C and Hamilton, DL and Gallagher, J and Logie, L and Wright, K and Soutar, MP and Dadak, S and Ashford, FB and Haythorne, E and Du, Q and Jovanović, A and McCrimmon, RJ and Ashford, ML (2012) Mouse hypothalamic GT1-7 cells demonstrate AMPK-dependent intrinsic glucose-sensing behaviour. Diabetologia , 55 (9) 2432 - 2444. 10.1007/s00125-012-2617-y.

Bettencourt, C and Lima, M (2012) Genetics at Different Levels in Machado-Joseph Disease (MJD/SCA3): Cause, Modifiers and Therapy. In: Hong, S, (ed.) Ataxia: Causes, Symptoms and Treatment. (123 - 138). Nova Science Publishers: New York.

Bettencourt, C and Lima, M and Garcia de Yebenes, J (2012) The increasing number of SCA loci: contributes from classical genetics and new genomics. In: Almeirão, E and Honrado, T, (eds.) Neuropathology: New Research. (75 - 92). Nova Science Publishers: New York.

Bettencourt, C and Quintáns, B and Ros, R and Ampuero, I and Yáñez, Z and Pascual, SI and de Yébenes, JG and Sobrido, M-J (2012) Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias. Human Mutation , 33 (9) 1315 - 1323.

Bettencourt, C and Raposo, M and Kazachkova, N and Santos, C and Kay, T and Vasconcelos, J and MacIel, P and Donis, KC and Saraiva-Pereira, ML and Jardim, LB and Sequeiros, J and Bruges-Armas, J and Lima, M (2012) Sequence analysis of 5′ regulatory regions of the Machado-Joseph disease gene (ATXN3). Cerebellum , 11 (4) 1045 - 1050.

Bettencourt, C and Raposo, M and Ros, R and Montiel, R and Bruges-Armas, J and Lima, M (2012) Transcript Diversity of Machado-Joseph Disease Gene (ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions. Journal of Molecular Neuroscience 1 - 5.

Blennow, K and Hardy, J and Zetterberg, H (2012) The neuropathology and neurobiology of traumatic brain injury. Neuron , 76 (5) 886 - 899. 10.1016/j.neuron.2012.11.021.

Bowen, J and Southgate, R and Ali, A and Little, S and Liakos, A and Greaves, F and Strachan, J and Baraco, A and Adem, G and Abdillahi, M and Handuleh, J and Reed, K and Walker, F and Zeron, J and Strachan, M and Bowen, S and Hellyer, T and Hersheson, J and Whitwell, S and Fyfe, M and Phillips, J and Trim, C and Johnson, O and Leather, A and Al-Hadithy, N and Finlayson, A (2012) Can UK healthcare workers remotely support medical education in the developing world?: Focus group evaluation. JRSM Short Rep , 3 (7) 47 - ?. 10.1258/shorts.2012.011171.

Brady, S and Squier, W and Hilton-Jones, D and Sewry, C and Hanna, M and Holton, JL (2012) A histological evaluation of protein accumulation in inflammatory myopathies. In: NEUROMUSCULAR DISORDERS. (pp. S27 - S27).

Brady, S and Squier, W and Hilton-Jones, D and Sewry, C and Holton, JL (2012) INCLUSION BODY MYOSITIS: A DIAGNOSTIC CHALLENGE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Bras, J and Guerreiro, R and Hardy, J (2012) Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease. Nat Rev Neurosci , 13 (7) 453 - 464. 10.1038/nrn3271.

Bras, J and Verloes, A and Schneider, SA and Mole, SE and Guerreiro, RJ (2012) Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet , 21 (12) 2646 - 2650. 10.1093/hmg/dds089. An open access publication

Burge, J and Schorge, S and Hanna, MG (2012) Progesterone reduces and shifts the voltage dependence of the skeletal muscle chloride conductance. In: NEUROMUSCULAR DISORDERS. (pp. S16 - S16).

Burge, JA and Hanna, MG (2012) Novel insights into the pathomechanisms of skeletal muscle channelopathies. Curr Neurol Neurosci Rep , 12 (1) 62 - 69. 10.1007/s11910-011-0238-3.

Charlesworth, G and Gandhi, S and Bras, JM and Barker, RA and Burn, DJ and Chinnery, PF and Gentleman, SM and Guerreiro, R and Hardy, J and Holton, JL and Lees, A and Morrison, K and Sheerin, U-M and Williams, N and Morris, H and Revesz, T and Wood, NW (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiology of Aging , 33 (4) 838.e7 - 838.e11.

Charlesworth, G and Gandhi, S and Bras, JM and Barker, RA and Burn, DJ and Chinnery, PF and Gentleman, SM and Guerreiro, R and Hardy, J and Holton, JL and Lees, A and Morrison, K and Sheerin, UM and Williams, N and Morris, H and Revesz, T and Wood, NW (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 and Plagnol, V and Holmström, KM and Bras, J and Sheerin, UM and Preza, E and Rubio-Agusti, I and Ryten, M and Schneider, SA and Stamelou, M and Trabzuni, D and Abramov, AY and Bhatia, KP and Wood, NW (2012) Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet , 91 (6) 1041 - 1050. 10.1016/j.ajhg.2012.10.024.

Charlesworth, G and Wood, NW (2012) Mutations in Nuclear Genes That Affect Mitochondrial Function in Parkinson’s Disease. In: Reeve, AK and Krishnan, KJ and Duchen, M and Turnbull, DM, (eds.) Mitochondrial Dysfunction in Neurodegenerative Disorders. (? - ?). Springer Verlag

Chen, CWR and Kachramanoglou, C and Revesz, T and Choi, D (2012) Rosai-Dorfman disease presenting as a thoracic intradural extramedullary spinal tumor but without extraspinal manifestations. ACTA NEUROCHIRURGICA , 154 (2) 367 - 368. 10.1007/s00701-011-1176-1.

Clark, CN and Weber, YW and Lerche, H and Warner, TT (2012) Paroxysmal exercise-induced dyskinesia of the hands. Mov Disord , 27 (12) 1579 - 1580. 10.1002/mds.25200.

Cooper-Knock, J and Hewitt, C and Highley, JR and Brockington, A and Milano, A and Man, S and Martindale, J and Hartley, J and Walsh, T and Gelsthorpe, C and Baxter, L and Forster, G and Fox, M and Bury, J and Mok, K and McDermott, CJ and Traynor, BJ and Kirby, J and Wharton, SB and Ince, PG and Hardy, J and Shaw, PJ (2012) Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain , 135 (3) 751 - 764. 10.1093/brain/awr365. An open access publication. A version is also available from UCL Discovery.

Coppola, G and Chinnathambi, S and Lee, JJ and Dombroski, BA and Baker, MC and Soto-Ortolaza, AI and Lee, SE and Klein, E and Huang, AY and Sears, R and Lane, JR and Karydas, AM and Kenet, RO and Biernat, J and Wang, LS and Cotman, CW and Decarli, CS and Levey, AI and Ringman, JM and Mendez, MF and Chui, HC and Le Ber, I and Brice, A and Lupton, MK and Preza, E and Lovestone, S and Powell, J and Graff-Radford, N and Petersen, RC and Boeve, BF and Lippa, CF and Bigio, EH and Mackenzie, I and Finger, E and Kertesz, A and Caselli, RJ and Gearing, M and Juncos, JL and Ghetti, B and Spina, S and Bordelon, YM and Tourtellotte, WW and Frosch, MP and Vonsattel, JP and Zarow, C and Beach, TG and Albin, RL and Lieberman, AP and Lee, VM and Trojanowski, JQ and Van Deerlin, VM and Bird, TD and Galasko, DR and Masliah, E and White, CL and Troncoso, JC and Hannequin, D and Boxer, AL and Geschwind, MD and Kumar, S and Mandelkow, EM and Wszolek, ZK and Uitti, RJ and Dickson, DW and Haines, JL and Mayeux, R and Pericak-Vance, MA and Farrer, LA and Alzheimer's Disease Genetics Consortium, and Ross, OA and Rademakers, R and Schellenberg, GD and Miller, BL and Mandelkow, E and Geschwind, DH (2012) Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet , 21 (15) 3500 - 3512. 10.1093/hmg/dds161.

Cortese, A and Machado, P and Miller, A and Brady, S and Hilton-Jones, D and Morrow, J and Hiscock, A and Dewar, E and Parton, M and Hanna, M (2012) CLINICAL FEATURES AND CLINICAL COURSE OF SPORADIC INCLUSION BODY MYOSITIS (IBM): A PROSPECTIVE COHORT STUDY: IBM-NET. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Cortese, A and Machado, P and Morrow, J and Dewar, L and Hiscock, A and Miller, A and Brady, S and Hilton-Jones, D and Parton, M and Hanna, MG (2012) The natural history of sporadic inclusion body myositis: data from the IBM-Net prospective cohort study. In: NEUROMUSCULAR DISORDERS. (pp. S27 - S27).

Cottenie, E and Laura, M and Hanna, M and Dick, D and Blake, J and Houlden, H and Reilly, MM (2012) Genetic analysis of FIG4 in patients with CMT. In: NEUROMUSCULAR DISORDERS. (pp. S18 - S18).

Crehan, H and Hardy, J and Pocock, J (2012) Microglia, Alzheimer's disease, and complement. Int J Alzheimers Dis , 2012 983640 - ?. 10.1155/2012/983640. An open access publication

Crehan, H and Holton, P and Wray, S and Pocock, J and Guerreiro, R and Hardy, J (2012) Complement receptor 1 (CR1) and Alzheimer's disease. Immunobiology , 217 (2) 244 - 250. 10.1016/j.imbio.2011.07.017.

Cremades, N and Cohen, SI and Deas, E and Abramov, AY and Chen, AY and Orte, A and Sandal, M and Clarke, RW and Dunne, P and Aprile, FA and Bertoncini, CW and Wood, NW and Knowles, TP and Dobson, CM and Klenerman, D (2012) Direct observation of the interconversion of normal and toxic forms of α-synuclein. Cell , 149 (5) 1048 - 1059. 10.1016/j.cell.2012.03.037.

Curtis, HJ and Sibley, CR and Wood, MJ (2012) Mirtrons, an emerging class of atypical miRNA. Wiley Interdiscip Rev RNA , 3 (5) 617 - 632. 10.1002/wrna.1122.

Daborg, J and Andreasson, U and Pekna, M and Lautner, R and Hanse, E and Minthon, L and Blennow, K and Hansson, O and Zetterberg, H (2012) Cerebrospinal fluid levels of complement proteins C3, C4 and CR1 in Alzheimer's disease. J Neural Transm , 119 (7) 789 - 797. 10.1007/s00702-012-0797-8.

Davidson, G and Murphy, S and Polke, J and Laura, M and Salih, M and Muntoni, F and Blake, J and Brandner, S and Davies, N and Horvath, R and Price, S and Donaghy, M and Roberts, M and Foulds, N and Ramdharry, G and Soler, D and Lunn, M and Manji, H and Davis, M and Houlden, H and Reilly, M (2012) Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. J Neurol , 259 (8) 1673 - 1685. 10.1007/s00415-011-6397-y.

Devine, MJ (2012) Patient-derived cell models of Parkinson’s disease. Doctoral thesis, UCL (University College London). An open access version is available from UCL Discovery

Devine, MJ and Kaganovich, A and Ryten, M and Mamais, A and Trabzuni, D and Manzoni, C and McGoldrick, P and Chan, D and Dillman, A and Zerle, J and Horan, S and Taanman, JW and Hardy, J and Marti-Masso, JF and Healy, D and Schapira, AH and Wolozin, B and Bandopadhyay, R and Cookson, MR and van der Brug, MP and Lewis, PA (2012) Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLOS ONE , 7 (1) , Article e22489. 10.1371/annotation/c12e4f9e-5aae-424b-a69f-fddf16976dc5. An open access publication. A version is also available from UCL Discovery.

Dihanich, S (2012) MASL1: a neglected ROCO protein. Biochem Soc Trans , 40 (5) 1090 - 1094. 10.1042/BST20120127.

Ding, S and Riddoch-Contreras, J and Abramov, AY and Qi, Z and Duchen, MR (2012) Erratum to: Mild stress of caffeine increased mtDNA content in skeletal muscle cells: the interplay between Ca(2+) transients and nitric oxide. J Muscle Res Cell Motil , 33 (5) 339 - ?. 10.1007/s10974-012-9327-4.

Ding, S and Riddoch-Contreras, J and Abramov, AY and Qi, Z and Duchen, MR (2012) Mild stress of caffeine increased mtDNA content in skeletal muscle cells: the interplay between Ca2+ transients and nitric oxide. J Muscle Res Cell Motil , 33 (5) 327 - 337. 10.1007/s10974-012-9318-5.

Djamshidian, A and O'Sullivan, SS and Lees, A and Averbeck, BB (2012) Effects of dopamine on sensitivity to social bias in Parkinson's disease. PLoS One , 7 (3) , Article e32889 . 10.1371/journal.pone.0032889. An open access publication. A version is also available from UCL Discovery.

Djamshidian, A and O'Sullivan, SS and Sanotsky, Y and Sharman, S and Matviyenko, Y and Foltynie, T and Michalczuk, R and Aviles-Olmos, I and Fedoryshyn, L and Doherty, KM and Filts, Y and Selikhova, M and Bowden-Jones, H and Joyce, E and Lees, AJ and Averbeck, BB (2012) Decision making, impulsivity, and addictions: Do Parkinson's disease patients jump to conclusions? MOVEMENT DISORDERS , 27 (9) 1137 - 1145. 10.1002/mds.25105.

Dobricic, V and Stefanova, E and Jankovic, M and Gurunlian, N and Novakovic, I and Hardy, J and Kostic, V and Guerreiro, R (2012) Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort. Neurobiol Aging , 33 (7) 1481.e7 - 1481.12. 10.1016/j.neurobiolaging.2011.12.007.

Doherty, KM and Noyce, AJ and Silveira-Moriyama, L and Nisbet, A and Quinn, N and Lees, AJ (2012) Familial camptocormia: from dystonia to myopathy. J Neurol Neurosurg Psychiatry , 83 (3) 350 - 351. 10.1136/jnnp.2011.246561.

Doherty, KM and Silveira-Moriyama, L and Giladi, N and Bhatia, KP and Parton, M and Lees, AJ (2012) Camptocormia: don't forget muscle disease in the movement disorder clinic. J Neurol , 259 (8) 1752 - 1754. 10.1007/s00415-012-6448-z.

Domijan, AM and Kovac, S and Abramov, AY (2012) Impact of fumonisin B1 on glutamate toxicity and low magnesium-induced seizure activity in neuronal primary culture. Neuroscience , 202 10 - 16. 10.1016/j.neuroscience.2011.12.005.

Duran, R and McNeill, A and Mehta, A and Hughes, D and Cox, T and Deegan, P and Schapira, AH and Hardy, J (2012) Novel pathogenic mutations in the glucocerebrosidase locus. Mol Genet Metab , 106 (4) 495 - 497. 10.1016/j.ymgme.2012.05.006. An open access publication

Duran, R and McNeill, A and Mehta, A and Hughes, D and Cox, T and Deegan, P and Schapira, AHV and Hardy, J (2012) Novel pathogenic mutations in the glucocerebrosidase locus. Molecular Genetics and Metabolism , 106 (4) 495 - 497.

Elson, JL and Sweeney, MG and Procaccio, V and Yarham, JW and Salas, A and Kong, QP and van der Westhuizen, FH and Pitceathly, RD and Thorburn, DR and Lott, MT and Wallace, DC and Taylor, RW and McFarland, R (2012) Toward a mtDNA locus-specific mutation database using the LOVD platform. Hum Mutat , 33 (9) 1352 - 1358. 10.1002/humu.22118.

Englund, E and Gustafson, L and Passant, U and Majounie, E and Renton, AE and Traynor, BJ and Rohrer, JD and Mok, K and Hardy, J (2012) Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion. Neurobiology of Aging , 33 (8) e13 - e16.

Fassone, E and Taanman, JW and Sweeney, MG and Woodward, C and Hargreaves, IP and Hanna, MG and Taylor, RW and Duncan, AJ and Rahman, S (2012) WHOLE EXOME SEQUENCING REVEALS THAT SUBUNIT MUTATIONS ARE PREVALENT IN COMPLEX I DEFICIENT LEIGH SYNDROME. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S13 - S13).

Fawcett, KA and Murphy, SM and Polke, JM and Wray, S and Burchell, VS and Manji, H and Quinlivan, RM and Zdebik, AA and Reilly, MM and Houlden, H (2012) Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. J Neurol Neurosurg Psychiatry , 83 (12) 1204 - 1209. 10.1136/jnnp-2012-303055.

Ferrari, R and Mok, K and Moreno, JH and Cosentino, S and Goldman, J and Pietrini, P and Mayeux, R and Tierney, MC and Kapogiannis, D and Jicha, GA and Murrell, JR and Ghetti, B and Wassermann, EM and Grafman, J and Hardy, J and Huey, ED and Momeni, P (2012) Screening for C9ORF72 repeat expansion in FTLD. Neurobiol Aging , 33 (8) 1850.e1 - 1850.11. 10.1016/j.neurobiolaging.2012.02.017.

Ferrari, R and Mok, K and Moreno, JH and Cosentino, S and Goldman, J and Pietrini, P and Mayeux, R and Tierney, MC and Kapogiannis, D and Jicha, GA and Murrell, JR and Ghetti, B and Wassermann, EM and Grafman, J and Hardy, J and Huey, ED and Momeni, P (2012) Screening for C9ORF72 repeat expansion in FTLD. Neurobiology of Aging , 33 (8) e1 - e11.

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

Foulds, PG and Yokota, O and Thurston, A and Davidson, Y and Ahmed, Z and Holton, J and Thompson, JC and Akiyama, H and Arai, T and Hasegawa, M and Gerhard, A and Allsop, D and Mann, DM (2012) Post mortem cerebrospinal fluid α-synuclein levels are raised in multiple system atrophy and distinguish this from the other α-synucleinopathies, Parkinson's disease and Dementia with Lewy bodies. Neurobiol Dis , 45 (1) 188 - 195. 10.1016/j.nbd.2011.08.003.

Friedland, RP and Shah, JJ and Farrer, LA and Vardarajan, B and Rebolledo-Mendez, JD and Mok, K and Hardy, J (2012) Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat. Frontiers in Neurology , OCT An open access publication

Gandhi, S and Abramov, AY (2012) Mechanism of oxidative stress in neurodegeneration. Oxid Med Cell Longev , 2012 428010 - ?. 10.1155/2012/428010. An open access publication

Gandhi, S and Vaarmann, A and Yao, Z and Duchen, MR and Wood, NW and 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. An open access publication. A version is also available from UCL Discovery.

Gardiner, A and Jaffer, F and Pittman, A and Gibbons, V and Wood, N and Hanna, M and Houlden, H (2012) Next Generation Sequencing of Ion Channels in Neurological disorders. In: JOURNAL OF MEDICAL GENETICS. (pp. S119 - S119).

Gardiner, A and Kullmann, D and Wood, N and Ptacek, L and Houlden, H and Hanna, M (2012) Episodic muscle and brain channels: Analysis of the PRRT2 gene and screening of a muscle channel panel. In: NEUROMUSCULAR DISORDERS. (pp. S17 - S17).

Gardiner, AR and Bhatia, KP and Stamelou, M and Dale, RC and Kurian, MA and Schneider, SA and Wali, GM and Counihan, T and Schapira, AH and Spacey, SD and Valente, E-M and Silveira-Moriyama, L and Teive, HAG and Raskin, S and Sander, JW and Lees, A and Warner, T and Kullmann, DM and Wood, NW and Hanna, M and Houlden, H (2012) PRRT2 gene mutations From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. NEUROLOGY , 79 (21) 2115 - 2121.

Gardiner, AR and Bhatia, KP and Stamelou, M and Dale, RC and Kurian, MA and Schneider, SA and Wali, GM and Counihan, T and Schapira, AH and Spacey, SD and Valente, EM and Silveira-Moriyama, L and Teive, HA and Raskin, S and Sander, JW and Lees, A and Warner, T and Kullmann, DM and Wood, NW and Hanna, M and Houlden, H (2012) PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology , 79 (21) 2115 - 2121. 10.1212/WNL.0b013e3182752c5a.

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

Gerrish, A and Russo, G and Richards, A and Moskvina, V and Ivanov, D and Harold, D and Sims, R and Abraham, R and Hollingworth, P and Chapman, J and Hamshere, M and Pahwa, JS and Dowzell, K and Williams, A and Jones, N and Thomas, C and Stretton, A and Morgan, AR and Lovestone, S and Powell, J and Proitsi, P and Lupton, MK and Brayne, C and Rubinsztein, DC and Gill, M and Lawlor, B and Lynch, A and Morgan, K and Brown, KS and Passmore, PA and Craig, D and McGuinness, B and Todd, S and Johnston, JA and Holmes, C and Mann, D and Smith, AD and Love, S and Kehoe, PG and Hardy, J and Mead, S and Fox, N and Rossor, M and Collinge, J and Maier, W and Jessen, F and Kölsch, H and Heun, R and Schürmann, B and Bussche, HVD and Heuser, I and Kornhuber, J and Wiltfang, J and Dichgans, M and Frölich, L and Hampel, H and Hüll, M and Rujescu, D and Goate, AM and Kauwe, JSK and Cruchaga, C and Nowotny, P and Morris, JC and Mayo, K and Livingston, G and Bass, NJ and Gurling, H and McQuillin, A and Gwilliam, R and Deloukas, P and Davies, G and Harris, SE and Starr, JM and Deary, IJ and Al-Chalabi, A and Shaw, CE and Tsolaki, M and Singleton, AB and Guerreiro, R and Mühleisen, TW and Nöthen, MM and Moebus, S and Jöckel, K-H and Klopp, N and Wichmann, H-E and Carrasquillo, MM and Pankratz, VS and Younkin, SG and Jones, L and Holmans, PA and O'Donovan, MC and Owen, MJ and Williams, J (2012) The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. Journal of Alzheimer's Disease , 28 (2) 377 - 387.

Gerrish, A and Russo, G and Richards, A and Moskvina, V and Ivanov, D and Harold, D and Sims, R and Abraham, R and Hollingworth, P and Chapman, J and Hamshere, M and Pahwa, JS and Dowzell, K and Williams, A and Jones, N and Thomas, C and Stretton, A and Morgan, AR and Lovestone, S and Powell, J and Proitsi, P and Lupton, MK and Brayne, C and Rubinsztein, DC and Gill, M and Lawlor, B and Lynch, A and Morgan, K and Brown, KS and Passmore, PA and Craig, D and McGuinness, B and Todd, S and Johnston, JA and Holmes, C and Mann, D and Smith, AD and Love, S and Kehoe, PG and Hardy, J and Mead, S and Fox, N and Rossor, M and Collinge, J and Maier, W and Jessen, F and Kölsch, H and Heun, R and Schürmann, B and van den Bussche, H and Heuser, I and Kornhuber, J and Wiltfang, J and Dichgans, M and Frölich, L and Hampel, H and Hüll, M and Rujescu, D and Goate, AM and Kauwe, JS and Cruchaga, C and Nowotny, P and Morris, JC and Mayo, K and Livingston, G and Bass, NJ and Gurling, H and McQuillin, A and Gwilliam, R and Deloukas, P and Davies, G and Harris, SE and Starr, JM and Deary, IJ and Al-Chalabi, A and Shaw, CE and Tsolaki, M and Singleton, AB and Guerreiro, R and Mühleisen, TW and Nöthen, MM and Moebus, S and Jöckel, KH and Klopp, N and Wichmann, HE and Carrasquillo, MM and Pankratz, VS and Younkin, SG and Jones, L and Holmans, PA and O'Donovan, MC and Owen, MJ and Williams, J (2012) The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis , 28 (2) 377 - 387. 10.3233/JAD-2011-110824.

Gibbons, V and Labrum, RW and Haworth, A and Sweeney, MG and Wood, NW and Houlden, H and Hanna, MG (2012) Episodic ataxia type 2-mutation analysis and screening recommendations. In: JOURNAL OF MEDICAL GENETICS. (pp. S87 - S87).

Gisslén, M and Fuchs, D and Hagberg, L and Svennerholm, B and Zetterberg, H (2012) Cerebrospinal fluid viral breakthrough in two HIV-infected subjects on darunavir/ritonavir monotherapy. Scand J Infect Dis , 44 (12) 997 - 1000. 10.3109/00365548.2012.690526.

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

Giunti, P and Nethisinghe, S and Clayton, LM and Vermeer, S and Chapple, JP and Reilly, MM and Bremner, F (2012) DETECTING RETINAL CHANGES IN AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY (ARSACS) USING OPTICAL COHERENCE TOMOGRAPHY (OCT). In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Goate, A and Hardy, J (2012) Twenty years of Alzheimer's disease-causing mutations. J Neurochem , 120 Suppl 1 3 - 8. 10.1111/j.1471-4159.2011.07575.x.

Gonzalez, C and Gomes, E and Kazachkova, N and Bettencourt, C and Raposo, M and Kay, TT and MacLeod, P and Vasconcelos, J (2012) Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation. Genet Test Mol Biomarkers , 16 (12) 1363 - 1368. 10.1089/gtmb.2011.0370.

Graves, T and Cha, Y-H and Hahn, A and Barohn, R and Amato, A and Griggs, R and Bundy, B and Jen, J and Baloh, R and Hanna, M (2012) Episodic Ataxia Type 1: Characterization of the Disease and Its Effect on Quality of Life. In: NEUROLOGY.

Graves, T and Fialho, D and Smith, S and Cha, Y-H and Amato, A and Griggs, R and Bundy, B and Jen, J and Baloh, R and Hanna, M (2012) EEG Abnormalities in the Episodic Ataxias. In: NEUROLOGY.

Gray, A and Nirmalananthan, N and Malik, B and Dick, J and Hanna, M and Greensmith, L (2012) Targeting the endogenous stress response in a mouse model of SBMA. In: NEUROMUSCULAR DISORDERS. (pp. S12 - S12).

Guerreiro, RJ and Gustafson, DR and Hardy, J (2012) The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE. Neurobiol Aging , 33 (3) 437 - 456. 10.1016/j.neurobiolaging.2010.03.025.

Guerreiro, RJ and Hardy, J (2012) TOMM40 Association With Alzheimer Disease Tales of APOE and Linkage Disequilibrium. ARCHIVES OF NEUROLOGY , 69 (10) 1243 - 1244. 10.1001/archneurol.2012.1935.

Guerreiro, RJ and Hardy, J (2012) TOMM40 association with Alzheimer disease: tales of APOE and linkage disequilibrium. Arch Neurol , 69 (10) 1243 - 1244. 10.1001/archneurol.2012.1935.

Guerreiro, RJ and Lohmann, E and Brás, JM and Gibbs, JR and Rohrer, JD and Gurunlian, N and Dursun, B and Bilgic, B and Hanagasi, H and Gurvit, H and Emre, M and Singleton, A and Hardy, J (2012) Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia-like Syndrome Without Bone Involvement. Arch Neurol 1 - 7. 10.1001/archneurol.2013.579.

Guerreiro, RJ and Lohmann, E and Kinsella, E and Brás, JM and Luu, N and Gurunlian, N and Dursun, B and Bilgic, B and Santana, I and Hanagasi, H and Gurvit, H and Gibbs, JR and Oliveira, C and Emre, M and Singleton, A (2012) Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease. Neurobiol Aging , 33 (5) 1008.e17 - 1008.e23. 10.1016/j.neurobiolaging.2011.10.009.

Haack, TB and Hogarth, P and Kruer, MC and Gregory, A and Wieland, T and Schwarzmayr, T and Graf, E and Sanford, L and Meyer, E and Kara, E and Cuno, SM and Harik, SI and Dandu, VH and Nardocci, N and Zorzi, G and Dunaway, T and Tarnopolsky, M and Skinner, S and Frucht, S and Hanspal, E and Schrander-Stumpel, C and Héron, D and Mignot, C and Garavaglia, B and Bhatia, K and Hardy, J and Strom, TM and Boddaert, N and Houlden, HH and Kurian, MA and Meitinger, T and Prokisch, H and Hayflick, SJ (2012) Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet , 91 (6) 1144 - 1149. 10.1016/j.ajhg.2012.10.019.

Haack, TB and Hogarth, P and Kruer, MC and Gregory, A and Wieland, T and Schwarzmayr, T and Graf, E and Sanford, L and Meyer, E and Kara, E and Cuno, SM and Harik, SI and Dandu, VH and Nardocci, N and Zorzi, G and Dunaway, T and Tarnopolsky, M and Skinner, S and Frucht, S and Hanspal, E and Schrander-Stumpel, C and Héron, D and Mignot, C and Garavaglia, B and Bhatia, K and Hardy, J and Strom, TM and Boddaert, N and Houlden, HH and Kurian, MA and Meitinger, T and Prokisch, H and Hayflick, SJ (2012) Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. American Journal of Human Genetics , 91 (6) 1144 - 1149.

Hardy, J (2012) CSF biomarking for diagnosis and treatment assessment in neurodegeneration. JOURNAL OF NEUROCHEMISTRY , 123 (3) 339 - 341. 10.1111/j.1471-4159.2012.07928.x.

Hardy, J (2012) Genetic analysis of disease in the era of whole genome analysis and public databases. Neurobiol Aging , 33 (4) 635 - ?. 10.1016/j.neurobiolaging.2011.12.039.

Hardy, J and Revesz, T (2012) The spread of neurodegenerative disease. N Engl J Med , 366 (22) 2126 - 2128. 10.1056/NEJMcibr1202401.

Hernandez, DG and Nalls, MA and Moore, M and Chong, S and Dillman, A and Trabzuni, D and Gibbs, JR and Ryten, M and Arepalli, S and Weale, ME and Zonderman, AB and Troncoso, J and O'Brien, R and Walker, R and Smith, C and Bandinelli, S and Traynor, BJ and Hardy, J and Singleton, AB and Cookson, MR (2012) Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiol Dis , 47 (1) 20 - 28. 10.1016/j.nbd.2012.03.020.

Hernandez, DG and Nalls, MA and Ylikotila, P and Keller, M and Hardy, JA and Majamaa, K and Singleton, AB (2012) Genome Wide Assessment of Young Onset Parkinson's Disease from Finland. PLOS ONE , 7 (7) , Article e41859. 10.1371/journal.pone.0041859. An open access publication. A version is also available from UCL Discovery.

Hersheson, J and Haworth, A and Houlden, H (2012) The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. Hum Mutat , 33 (9) 1324 - 1332. 10.1002/humu.22132.

Hersheson, J and Hersheson, J and Pittman, A and Houlden, H (2012) Developing a NGS screening panel for dominant cerebellar ataxia. In: JOURNAL OF MEDICAL GENETICS. (pp. S120 - S120).

Hersheson, J and Mencacci, NE and Davis, M and Macdonald, N and Trabzuni, D and Ryten, M and Pittman, A and Paudel, R and Kara, E and Fawcett, K and Plagnol, V and Bhatia, KP and Medlar, AJ and Stanescu, HC and Hardy, J and Kleta, R and Wood, NW and Houlden, H (2012) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol 10.1002/ana.23832.

Heslegrave, AJ and Kapoor, RR and Eaton, S and Chadefaux, B and Akcay, T and Simsek, E and Flanagan, SE and Ellard, S and Hussain, K (2012) Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase. Orphanet J Rare Dis , 7 (1) 25 - ?. 10.1186/1750-1172-7-25. An open access publication

Hiscock, A and Dewar, L and Parton, M and Machado, P and Hanna, M and Ramdharry, G (2012) Frequency and circumstances of falls in people with Inclusion Body Myositis. In: NEUROMUSCULAR DISORDERS. (pp. S30 - S31).

Hobart, JC and Cano, SJ and Warner, TT and Thompson, AJ (2012) What sample sizes for reliability and validity studies in neurology? JOURNAL OF NEUROLOGY , 259 (12) 2681 - 2694. 10.1007/s00415-012-6570-y.

Hobart, JC and Cano, SJ and Warner, TT and Thompson, AJ (2012) What sample sizes for reliability and validity studies in neurology? Journal of Neurology 1 - 14.

Horga, A and Rayan, DLR and Haworth, A and Matthews, E and Fialho, D and Sud, R and Portaro, S and Burge, JA and Davis, MB and Hanna, MG (2012) Prevalence study of skeletal muscle channelopathies in England. In: NEUROMUSCULAR DISORDERS. (pp. S17 - S17).

Horga, A and Rayan, DLR and Matthews, E and Fialho, D and Sud, R and Haworth, A and Portaro, S and Burge, J and Davis, MB and Hanna, MG (2012) PREVALENCE STUDY OF SKELETAL MUSCLE CHANNELOPATHIES IN ENGLAND. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Houlden, H (2012) Extending the clinical spectrum of pain channelopathies. Brain , 135 (Pt 2) 313 - 316. 10.1093/brain/aws007.

Huey, ED and Ferrari, R and Moreno, JH and Jensen, C and Morris, CM and Potocnik, F and Kalaria, RN and Tierney, M and Wassermann, EM and Hardy, J and Grafman, J and Momeni, P (2012) FUS and TDP43 genetic variability in FTD and CBS. NEUROBIOLOGY OF AGING , 33 (5) , Article ARTN 1016.e9. 10.1016/j.neurobiolaging.2011.08.004.

Ince-Dunn, G and Okano, HJ and Jensen, KB and Park, WY and Zhong, R and Ule, J and Mele, A and Fak, JJ and Yang, C and Zhang, C and Yoo, J and Herre, M and Okano, H and Noebels, JL and Darnell, RB (2012) Neuronal Elav-like (Hu) proteins regulate RNA splicing and abundance to control glutamate levels and neuronal excitability. Neuron , 75 1067 - 1080. 10.1016/j.neuron.2012.07.009.

Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium, and Hingorani, AD and Casas, JP (2012) The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet , 379 (9822) 1214 - 1224. 10.1016/S0140-6736(12)60110-X.

International Stroke Genetics Consortium (ISGC), and Wellcome Trust Case Control Consortium 2 (WTCCC2), and Bellenguez, C and Bevan, S and Gschwendtner, A and Spencer, CC and Burgess, AI and Pirinen, M and Jackson, CA and Traylor, M and Strange, A and Su, Z and Band, G and Syme, PD and Malik, R and Pera, J and Norrving, B and Lemmens, R and Freeman, C and Schanz, R and James, T and Poole, D and Murphy, L and Segal, H and Cortellini, L and Cheng, YC and Woo, D and Nalls, MA and Müller-Myhsok, B and Meisinger, C and Seedorf, U and Ross-Adams, H and Boonen, S and Wloch-Kopec, D and Valant, V and Slark, J and Furie, K and Delavaran, H and Langford, C and Deloukas, P and Edkins, S and Hunt, S and Gray, E and Dronov, S and Peltonen, L and Gretarsdottir, S and Thorleifsson, G and Thorsteinsdottir, U and Stefansson, K and Boncoraglio, GB and Parati, EA and Attia, J and Holliday, E and Levi, C and Franzosi, MG and Goel, A and Helgadottir, A and Blackwell, JM and Bramon, E and Brown, MA and Casas, JP and Corvin, A and Duncanson, A and Jankowski, J and Mathew, CG and Palmer, CN and Plomin, R and Rautanen, A and Sawcer, SJ and Trembath, RC and Viswanathan, AC and Wood, NW and Worrall, BB and Kittner, SJ and Mitchell, BD and Kissela, B and Meschia, JF and Thijs, V and Lindgren, A and Macleod, MJ and Slowik, A and Walters, M and Rosand, J and Sharma, P and Farrall, M and Sudlow, CL and Rothwell, PM and Dichgans, M and Donnelly, P and Markus, HS (2012) Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat Genet , 44 (3) 328 - 333. 10.1038/ng.1081.

Jacobi, H and Hauser, TK and Giunti, P and Globas, C and Bauer, P and Schmitz-Hübsch, T and Baliko, L and Filla, A and Mariotti, C and Rakowicz, M and Charles, P and Ribai, P and Szymanski, S and Infante, J and van de Warrenburg, BP and Dürr, A and Timmann, D and Boesch, S and Fancellu, R and Rola, R and Depondt, C and Schöls, L and Zdzienicka, E and Kang, JS and Ratzka, S and Kremer, B and Stephenson, DA and Melegh, B and Pandolfo, M and Tezenas du Montcel, S and Borkert, J and Schulz, JB and Klockgether, T (2012) Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum , 11 (1) 155 - 166. 10.1007/s12311-011-0292-z.

Jaffer, F and Graves, T and Gibbons, V and Gardiner, A and Hersheson, J and Hanna, M and Houlden, H (2012) Episodic ataxia: screening candidate genes and genetic analysis of families. In: NEUROMUSCULAR DISORDERS. (pp. S17 - S17).

Jaffer, F and Murphy, SM and Scoto, M and Healy, E and Rossor, AM and Brandner, S and Phadke, R and Selcen, D and Jungbluth, H and Muntoni, F and Reilly, MM (2012) BAG3 mutations: another cause of giant axonal neuropathy. J Peripher Nerv Syst , 17 (2) 210 - 216. 10.1111/j.1529-8027.2012.00409.x.

Jaffer, F and Murphy, SM and Scoto, M and Healy, E and Rossor A, and Brandner, S and Phadke, R and Jungbluth, H and Muntoni, F and Reilly, MM (2012) BAG3 Mutations: another cause of giant axonal neuropathy. Journal of the Peripheral Nervous System , 17 (2) 210 - 216.

Jebelli, JD and Dihanich, S and Civiero, L and Manzoni, C and Greggio, E and Lewis, PA (2012) GTP binding and intramolecular regulation by the ROC domain of Death Associated Protein Kinase 1. Sci Rep , 2 695 - ?. 10.1038/srep00695. An open access publication

Johnson, JO and Gibbs, JR and Megarbane, A and Urtizberea, JA and Hernandez, DG and Foley, AR and Arepalli, S and Pandraud, A and Simón-Sánchez, J and Clayton, P and Reilly, MM and Muntoni, F and Abramzon, Y and Houlden, H and Singleton, AB (2012) Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain , 135 (Pt 9) 2875 - 2882. 10.1093/brain/aws161.

Kamynina, AV and Holmstrom, KM and Koroev, DO and Volpina, OM and Abramov, AY (2012) Anti-peptide antibodies to synthetic fragments of alpha7-subunit acetylcholine receptor or prion protein protect cells against beta-amyloid toxicity. JOURNAL OF PEPTIDE SCIENCE , 18 S136 - S136.

Kara, E and Ling, H and Pittman, AM and Shaw, K and de Silva, R and Simone, R and Holton, JL and Warren, JD and Rohrer, JD and Xiromerisiou, G and Lees, A and Hardy, J and Houlden, H and Revesz, T (2012) The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobiol Aging , 33 (9) 2231.e7 - 2231.e14. 10.1016/j.neurobiolaging.2012.04.006.

Kara, E and Ling, H and Pittman, AM and Shaw, K and de Silva, R and Simone, R and Holton, JL and Warren, JD and Rohrer, JD and Xiromerisiou, G and Lees, A and Hardy, J and Houlden, H and Revesz, T (2012) The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobiology of Aging , 33 (9) 2231e7 - 2231e14.

Keenan, BT and Shulman, JM and Chibnik, LB and Raj, T and Tran, D and Sabuncu, MR and Allen, AN and Corneveaux, JJ and Hardy, JA and Huentelman, MJ and Lemere, CA and Myers, AJ and Nicholson-Weller, A and Reiman, EM and Evans, DA and Bennett, DA and De Jager, PL and Neuroimaging, AD (2012) A coding variant in CR1 interacts with APOE-?4 to influence cognitive decline. HUMAN MOLECULAR GENETICS , 21 (10) 2377 - 2388. 10.1093/hmg/dds054.

Keller, MF and Saad, M and Bras, J and Bettella, F and Nicolaou, N and Simón-Sánchez, J and Mittag, F and Büchel, F and Sharma, M and Gibbs, JR and Schulte, C and Moskvina, V and Durr, A and Holmans, P and Kilarski, LL and Guerreiro, R and Hernandez, DG and Brice, A and Ylikotila, P and Stefánsson, H and Majamaa, K and Morris, HR and Williams, N and Gasser, T and Heutink, P and Wood, NW and Hardy, J and Martinez, M and Singleton, AB and Nalls, MA and International Parkinson's Disease Genomics Consortium (IPDGC), and 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 (22) 4996 - 5009. 10.1093/hmg/dds335.

Kilarski, LL and Pearson, JP and Newsway, V and Majounie, E and Knipe, MDW and Misbahuddin, A and Chinnery, PF and Burn, DJ and Clarke, CE and Marion, M-H and Lewthwaite, AJ and Nicholl, DJ and Wood, NW and Morrison, KE and Williams-Gray, CH and Evans, JR and Sawcer, SJ and Barker, RA and Wickremaratchi, MM and Ben-Shlomo, Y and Williams, NM and Morris, HR (2012) Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. MOVEMENT DISORDERS , 27 (12) 1522 - 1529. 10.1002/mds.25132.

Kinghorn, KJ and Kaliakatsos, M and Blakely, EL and Taylor, RW and Rich, P and Clarke, A and Omer, S (2012) Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations. Journal of Neurology 1 - 7.

Kojovic, M and Sheerin, U and Rubio-Agusti, I and Bras, J and Wood, N and Houlden, H and Hardy, J and Bhatia, K (2012) Young Onset Parkinson's Disease Due to Homozygous Duplication of SNCA in a Consanguineous Family from Pakistan. In: NEUROLOGY.

Kojovic, M and Sheerin, UM and Rubio-Agusti, I and Saha, A and Bras, J and Gibbons, V and Palmer, R and Houlden, H and Hardy, J and Wood, NW and Bhatia, KP (2012) Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family. Mov Disord , 27 (14) 1827 - 1829. 10.1002/mds.25199.

Korkodilos, M and Hajioff, S and Gardner, C and Overett, S and Ibrahim, S and Jaffer, F and Hanna, MG (2012) Audit of unplanned admissions in neuromuscular patients: a collaborative audit. Audit, Information and Analysis Unit / London Specialised Commissioning Group / MRC Centre for Neuromuscular Diseases: United Kingdom. An open access version is available from UCL Discovery

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

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

Kovac, S and Domijan, AM and Walker, MC and Abramov, AY (2012) Prolonged seizure activity impairs mitochondrial bioenergetics and induces cell death. J Cell Sci , 125 (Pt 7) 1796 - 1806. 10.1242/jcs.099176.

Kruczyk, M and Zetterberg, H and Hansson, O and Rolstad, S and Minthon, L and Wallin, A and Blennow, K and Komorowski, J and Andersson, MG (2012) Monte Carlo feature selection and rule-based models to predict Alzheimer's disease in mild cognitive impairment. J Neural Transm , 119 (7) 821 - 831. 10.1007/s00702-012-0812-0.

Kruer, MC and Boddaert, N and Schneider, SA and Houlden, H and Bhatia, KP and Gregory, A and Anderson, JC and Rooney, WD and Hogarth, P and Hayflick, SJ (2012) Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol , 33 (3) 407 - 414. 10.3174/ajnr.A2677.

Kruer, MC and Paudel, R and Wagoner, W and Sanford, L and Kara, E and Gregory, A and Foltynie, T and Lees, A and Bhatia, K and Hardy, J and Hayflick, SJ and Houlden, H (2012) Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neurosci Lett , 523 (1) 35 - 38. 10.1016/j.neulet.2012.06.036.

Kruer, MC and Paudel, R and Wagoner, W and Sanford, L and Kara, E and Gregory, A and Foltynie, T and Lees, A and Bhatia, K and Hardy, J and Hayflick, SJ and Houlden, H (2012) Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neuroscience Letters , 523 (1) 35 - 38.

Lace, G and Ince, PG and Brayne, C and Savva, GM and Matthews, FE and de Silva, R and Simpson, JE and Wharton, SB and MRC-CFAS, (2012) Mesial Temporal Astrocyte Tau Pathology in the MRC-CFAS Ageing Brain Cohort. DEMENTIA AND GERIATRIC COGNITIVE DISORDERS , 34 (1) 15 - 24. 10.1159/000341581.

Landgren, S and von Otter, M and Palmér, MS and Zetterström, C and Nilsson, S and Skoog, I and Gustafson, DR and Minthon, L and Wallin, A and Andreasen, N and Bogdanovic, N and Marcusson, J and Blennow, K and Zetterberg, H and Kettunen, P (2012) A novel ARC gene polymorphism is associated with reduced risk of Alzheimer's disease. J Neural Transm , 119 (7) 833 - 842. 10.1007/s00702-012-0823-x.

Lee, H-Y and Huang, Y and Bruneau, N and Roll, P and Roberson, EDO and Hermann, M and Quinn, E and Maas, J and Edwards, R and Ashizawa, T and Baykan, B and Bhatia, K and Bressman, S and Bruno, MK and Brunt, ER and Caraballo, R and Echenne, B and Fejerman, N and Frucht, S and Gurnett, CA and Hirsch, E and Houlden, H and Jankovic, J and Lee, W-L and Lynch, DR and Mohammed, S and Mueller, U and Nespeca, MP and Renner, D and Rochette, J and Rudolf, G and Saiki, S and Soong, B-W and Swoboda, KJ and Tucker, S and Wood, N and Hanna, M and Bowcock, AM and Szepetowski, P and Fu, Y-H and Ptacek, LJ (2012) Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions. CELL REPORTS , 1 (1) 2 - 12. 10.1016/j.celrep.2011.11.001. An open access publication

Lee, HY and Huang, Y and Bruneau, N and Roll, P and Roberson, ED and Hermann, M and Quinn, E and Maas, J and Edwards, R and Ashizawa, T and Baykan, B and Bhatia, K and Bressman, S and Bruno, MK and Brunt, ER and Caraballo, R and Echenne, B and Fejerman, N and Frucht, S and Gurnett, CA and Hirsch, E and Houlden, H and Jankovic, J and Lee, WL and Lynch, DR and Mohamed, S and Müller, U and Nespeca, MP and Renner, D and Rochette, J and Rudolf, G and Saiki, S and Soong, BW and Swoboda, KJ and Tucker, S and Wood, N and Hanna, M and Bowcock, A and Szepetowski, P and Fu, YH and Ptáček, LJ (2012) Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep , 1 (1) 2 - 12. 10.1016/j.celrep.2011.11.001.

Lee, HY and Huang, Y and Bruneau, N and Roll, P and Roberson, ED and Hermann, M and Quinn, E and Maas, J and Edwards, R and Ashizawa, T and Baykan, B and Bhatia, K and Bressman, S and Bruno, MK and Brunt, ER and Caraballo, R and Echenne, B and Fejerman, N and Frucht, S and Gurnett, CA and Hirsch, E and Houlden, H and Jankovic, J and Lee, WL and Lynch, DR and Mohammed, S and Müller, U and Nespeca, MP and Renner, D and Rochette, J and Rudolf, G and Saiki, S and Soong, BW and Swoboda, KJ and Tucker, S and Wood, N and Hanna, M and Bowcock, AM and Szepetowski, P and Fu, YH and Ptáček, LJ (2012) Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. In: Cell Rep. (pp. 2 - 12).

Lescai, F and Bonfiglio, S and Bacchelli, C and Chanudet, E and Waters, A and Sisodiya, SM and Kasperavičiūtė, D and Williams, J and Harold, D and Hardy, J and Kleta, R and Cirak, S and Williams, R and Achermann, JC and Anderson, J and Kelsell, D and Vulliamy, T and Houlden, H and Wood, N and Sheerin, U and Tonini, GP and Mackay, D and Hussain, K and Sowden, J and Kinsler, V and Osinska, J and Brooks, T and Hubank, M and Beales, P and Stupka, E (2012) Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One , 7 (12) , Article e51292 . 10.1371/journal.pone.0051292. An open access publication. A version is also available from UCL Discovery.

Lewis, PA (2012) Assaying the kinase activity of LRRK2 in vitro. J Vis Exp (59) 10.3791/3495. An open access publication

Lewis, PA and Alessi, DR (2012) Deciphering the function of leucine-rich repeat kinase 2 and targeting its dysfunction in disease. Biochem Soc Trans , 40 (5) 1039 - 1041. 10.1042/BST20120178.

Lewis, PA and Cookson, MR (2012) Gene expression in the Parkinson's disease brain. Brain Res Bull , 88 (4) 302 - 312. 10.1016/j.brainresbull.2011.11.016.

Lewis, PA and Manzoni, C (2012) LRRK2 and human disease: a complicated question or a question of complexes? Sci Signal , 5 (207) pe2 - ?. 10.1126/scisignal.2002680.

Lill, CM and Roehr, JT and McQueen, MB and Kavvoura, FK and Bagade, S and Schjeide, B-MM and Schjeide, LM and Meissner, E and Zauft, U and Allen, NC and Liu, T and Schilling, M and Anderson, KJ and Beecham, G and Berg, D and Biernacka, JM and Brice, A and DeStefano, AL and Do, CB and Eriksson, N and Factor, SA and Farrer, MJ and Foroud, T and Gasser, T and Hamza, T and Hardy, JA and Heutink, P and Hill-Burns, EM and Klein, C and Latourelle, JC and Maraganore, DM and Martin, ER and Martinez, M and Myers, RH and Nalls, MA and Pankratz, N and Payami, H and Satake, W and Scott, WK and Sharma, M and Singleton, AB and Stefansson, K and Toda, T and Tung, JY and Vance, J and Wood, NW and Zabetian, CP and Young, P and Tanzi, RE and Khoury, MJ and Zipp, F and Lehrach, H and Ioannidis, JPA and Bertram, L and Parkinson's, GE and IPDGC, and Consortium, PDGWAS and WTCCC2, (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. An open access publication. A version is also available from UCL Discovery.

Lima, M and Bruges-Armas, J and Bettencourt, C (2012) Non-Mendelian Genetic Aspects in Spinocerebellar Ataxias (SCAS): The Case of Machado-Joseph Disease (MJD). In: Spinocerebellar Ataxia. (27 - 40). InTech: Rijeka.

Ling, H and de Silva, R and Massey, L and Bajaj, N and Lowe, J and Holton, J and Lees, A and Revesz, T (2012) Clinicopathological correlation of progressive supranuclear palsy presenting with corticobasal syndrome. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 290 - 290).

Ling, H and Massey, LA and Lees, AJ and Brown, P and Day, BL (2012) Hypokinesia without decrement distinguishes progressive supranuclear palsy from Parkinson's disease. Brain , 135 (Pt 4) 1141 - 1153. 10.1093/brain/aws038.

Ling, H and Petrovic, I and Day, BL and Lees, AJ (2012) Smoking-induced transient motor deterioration in a levodopa-treated patient with Parkinson's disease. J Neurol , 259 (11) 2419 - 2423. 10.1007/s00415-012-6515-5.

Liu, Y-T and Pittman, A and Hughes, D and Polke, JM and Sweeney, MG and Houlden, H and Reilly, MM (2012) Application of targeted resequencing panels in genetic diagnosis of Charcot-Marie-Tooth disease. In: JOURNAL OF MEDICAL GENETICS. (pp. S119 - S119).

Lo, C and Shorvon, S and Davis, M and Houlden, H and Gibbons, V and Wood, N (2012) Genetic linkage analysis of a large family with photoparoxysmal response. Epilepsy Res , 99 (1-2) 38 - 45. 10.1016/j.eplepsyres.2011.10.013.

Lohmann, E and Guerreiro, RJ and Erginel-Unaltuna, N and Gurunlian, N and Bilgic, B and Gurvit, H and Hanagasi, HA and Luu, N and Emre, M and Singleton, A (2012) Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. Neurobiol Aging , 33 (8) 1850.e17 - 1850.e27. 10.1016/j.neurobiolaging.2012.02.020.

Lubbe, SJ and Pittman, AM and Olver, B and Lloyd, A and Vijayakrishnan, J and Naranjo, S and Dobbins, S and Broderick, P and Gómez-Skarmeta, JL and Houlston, RS (2012) The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4. Oncogene , 31 (33) 3777 - 3784. 10.1038/onc.2011.564.

Lubbe, SJ and Pittman, AM and Olver, B and Lloyd, A and Vijayakrishnan, J and Naranjo, S and Dobbins, S and Broderick, P and Gómez-Skarmeta, JL and Houlston, RS (2012) The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4. Oncogene , 31 (33) 3777 - 3784.

Luk, C and Compta, Y and Magdalinou, N and Marti, MJ and Hondhamuni, G and Zetterberg, H and Blennow, K and Constantinescu, R and Pijnenburg, Y and Mollenhauer, B and Trenkwalder, C and Van Swieten, J and Chiu, WZ and Borroni, B and Camara, A and Cheshire, P and Williams, DR and Lees, AJ and de Silva, R (2012) Development and assessment of sensitive immuno-PCR assays for the quantification of cerebrospinal fluid three- and four-repeat tau isoforms in tauopathies. Journal of Neurochemistry 10.1111/j.1471-4159.2012.07911.x.

Machado, P and Cortese, A and Morrow, J and Dewar, L and Hiscock, A and Miller, A and Brady, S and Hilton-Jones, D and Parton, M and Hanna, MG (2012) The Natural History of Sporadic Inclusion Body Myositis-an Observational Longitudinal Study. In: ARTHRITIS AND RHEUMATISM. (pp. S99 - S100).

Machado, P and Hudson, J and Miller, A and Morrow, J and Parton, M and Bushby, K and Hanna, M (2012) VALOSIN CONTAINING PROTEIN (VCP) AND MYOFIBRILLAR MYOPATHIES (MFM) GENES' MUTATIONS ARE NOT ASSOCIATED WITH SPORADIC INCLUSION BODY MYOSITIS (sIBM). In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Machado, P and Hudson, J and Miller, A and Morrow, J and Parton, M and Bushby, K and Hanna, MG (2012) Myofibrillar myopathies (MFM), valosin containing protein (VCP) and glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) genes' mutations are not associated with sporadic inclusion body myositis (sIBM). In: NEUROMUSCULAR DISORDERS. (pp. S30 - S30).

Mahoney, CJ and Beck, J and Rohrer, JD and Lashley, T and Mok, K and Shakespeare, T and Yeatman, T and Warrington, EK and Schott, JM and Fox, NC and Rossor, MN and Hardy, J and Collinge, J and Revesz, T and Mead, S and Warren, JD (2012) Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain , 135 (Pt 3) 736 - 750. 10.1093/brain/awr361. An open access publication

Majounie, E and Abramzon, Y and Renton, AE and Perry, R and Bassett, SS and Pletnikova, O and Troncoso, JC and Hardy, J and Singleton, AB and Traynor, BJ (2012) Repeat Expansion in C9ORF72 in Alzheimer's Disease. NEW ENGLAND JOURNAL OF MEDICINE , 366 (3) 283 - 284. 10.1056/NEJMc1113592.

Majounie, E and Renton, AE and Mok, K and Dopper, EG and Waite, A and Rollinson, S and Chiò, A and Restagno, G and Nicolaou, N and Simon-Sanchez, J and van Swieten, JC and Abramzon, Y and Johnson, JO and Sendtner, M and Pamphlett, R and Orrell, RW and Mead, S and Sidle, KC and Houlden, H and Rohrer, JD and Morrison, KE and Pall, H and Talbot, K and Ansorge, O and Chromosome 9-ALS/FTD Consortium, and French research network on FTLD/FTLD/ALS, and ITALSGEN Consortium, and Hernandez, DG and Arepalli, S and Sabatelli, M and Mora, G and Corbo, M and Giannini, F and Calvo, A and Englund, E and Borghero, G and Floris, GL and Remes, AM and Laaksovirta, H and McCluskey, L and Trojanowski, JQ and Van Deerlin, VM and Schellenberg, GD and Nalls, MA and Drory, VE and Lu, CS and Yeh, TH and Ishiura, H and Takahashi, Y and Tsuji, S and Le Ber, I and Brice, A and Drepper, C and Williams, N and Kirby, J and Shaw, P and Hardy, J and Tienari, PJ and Heutink, P and Morris, HR and Pickering-Brown, S and Traynor, BJ (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol , 11 (4) 323 - 330. 10.1016/S1474-4422(12)70043-1.

Majounie, E and Renton, AE and Mok, K and Dopper, EGP and Waite, A and Rollinson, S and Chiò, A and Restagno, G and Nicolaou, N and Simon-Sanchez, J and van Swieten, JC and Abramzon, Y and Johnson, JO and Sendtner, M and Pamphlett, R and Orrell, RW and Mead, S and Sidle, KC and Houlden, H and Rohrer, JD and Morrison, KE and Pall, H and Talbot, K and Ansorge, O and Hernandez, DG and Arepalli, S and Sabatelli, M and Mora, G and Corbo, M and Giannini, F and Calvo, A and Englund, E and Borghero, G and Floris, GL and Remes, AM and Laaksovirta, H and McCluskey, L and Trojanowski, JQ and Van Deerlin, VM and Schellenberg, GD and Nalls, MA and Drory, VE and Lu, C-S and Yeh, T-H and Ishiura, H and Takahashi, Y and Tsuji, S and Le Ber, I and Brice, A and Drepper, C and Williams, N and Kirby, J and Shaw, P and Hardy, J and Tienari, PJ and Heutink, P and Morris, HR and Pickering-Brown, S and Traynor, BJ (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study. The Lancet Neurology , 11 (4) 323 - 330.

Majounie, E and Renton, AE and Mok, K and Dopper, EGP and Waite, A and Rollinson, S and Chiò, A and Restagno, G and Nicolaou, N and Simon-Sanchez, J and van Swieten, JC and Abramzon, Y and Johnson, JO and Sendtner, M and Pamphlett, R and Orrell, RW and Mead, S and Sidle, KC and Houlden, H and Rohrer, JD and Morrison, KE and Pall, H and Talbot, K and Ansorge, O and Hernandez, DG and Arepalli, S and Sabatelli, M and Mora, G and Corbo, M and Giannini, F and Calvo, A and Englund, E and Borghero, G and Floris, GL and Remes, AM and Laaksovirta, H and McCluskey, L and Trojanowski, JQ and Van Deerlin, VM and Schellenberg, GD and Nalls, MA and Drory, VE and Lu, C-S and Yeh, T-H and Ishiura, H and Takahashi, Y and Tsuji, S and Le Ber, I and Brice, A and Drepper, C and Williams, N and Kirby, J and Shaw, P and Hardy, J and Tienari, PJ and Heutink, P and Morris, HR and Pickering-Brown, S and Traynor, BJ (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study. The Lancet Neurology , 11 (4) 323 - 330.

Manzoni, C (2012) LRRK2 and autophagy: a common pathway for disease. Biochem Soc Trans , 40 (5) 1147 - 1151. 10.1042/BST20120126.

Martins, S and Soong, BW and Wong, VC and Giunti, P and Stevanin, G and Ranum, LP and Sasaki, H and Riess, O and Tsuji, S and Coutinho, P and Amorim, A and Sequeiros, J and Nicholson, GA (2012) Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala. Arch Neurol , 69 (6) 746 - 751. 10.1001/archneurol.2011.2504.

Massey, LA and Micallef, C and Paviour, DC and O'Sullivan, SS and Ling, H and Williams, DR and Kallis, C and Holton, JL and Revesz, T and Burn, DJ and Yousry, T and Lees, AJ and Fox, NC and Jäger, HR (2012) Conventional magnetic resonance imaging in confirmed progressive supranuclear palsy and multiple system atrophy. Mov Disord , 27 (14) 1754 - 1762. 10.1002/mds.24968.

Massey, LA and Micallef, C and Paviour, DC and O'Sullivan, SS and Ling, H and Williams, DR and Kallis, C and Holton, JL and Revesz, T and Burn, DJ and Yousry, T and Lees, AJ and Fox, NC and Jäger, HR (2012) Conventional magnetic resonance imaging in confirmed progressive supranuclear palsy and multiple system atrophy. Movement Disorders , 27 (14) 1754 - 1762.

Massey, LA and Miranda, MA and Zrinzo, L and Al-Helli, O and Parkes, HG and Thornton, JS and So, PW and White, MJ and Mancini, L and Strand, C and Holton, JL and Hariz, MI and Lees, AJ and Revesz, T and Yousry, TA (2012) High resolution MR anatomy of the subthalamic nucleus: imaging at 9.4 T with histological validation. Neuroimage , 59 (3) 2035 - 2044. 10.1016/j.neuroimage.2011.10.016.

Matsuki, T and Zaka, M and Guerreiro, R and van der Brug, MP and Cooper, JA and Cookson, MR and Hardy, JA and Howell, BW (2012) Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice. PLoS One , 7 (2) , Article e31152 . 10.1371/journal.pone.0031152. An open access publication. A version is also available from UCL Discovery.

Matthews, E and Plotz, PH and Portaro, S and Parton, M and Elliott, P and Humbel, RL and Holton, JL and Keegan, BM and Hanna, MG (2012) A case of necrotizing myopathy with proximal weakness and cardiomyopathy. Neurology , 78 (19) 1527 - 1532. 10.1212/WNL.0b013e3182553baa.

Mattsson, N and Andreasson, U and Carrillo, MC and Persson, S and Shaw, LM and Zegers, I and Zetterberg, H and Blennow, K (2012) Proficiency testing programs for Alzheimer's disease cerebrospinal fluid biomarkers. Biomark Med , 6 (4) 401 - 407. 10.2217/bmm.12.41.

Mattsson, N and Rosén, E and Hansson, O and Andreasen, N and Parnetti, L and Jonsson, M and Herukka, SK and van der Flier, WM and Blankenstein, MA and Ewers, M and Rich, K and Kaiser, E and Verbeek, MM and Olde Rikkert, M and Tsolaki, M and Mulugeta, E and Aarsland, D and Visser, PJ and Schröder, J and Marcusson, J and de Leon, M and Hampel, H and Scheltens, P and Wallin, A and Eriksdotter-Jönhagen, M and Minthon, L and Winblad, B and Blennow, K and Zetterberg, H (2012) Age and diagnostic performance of Alzheimer disease CSF biomarkers. Neurology , 78 (7) 468 - 476. 10.1212/WNL.0b013e3182477eed.

Mattsson, N and Zegers, I and Andreasson, U and Bjerke, M and Blankenstein, MA and Bowser, R and Carrillo, MC and Gobom, J and Heath, T and Jenkins, R and Jeromin, A and Kaplow, J and Kidd, D and Laterza, OF and Lockhart, A and Lunn, MP and Martone, RL and Mills, K and Pannee, J and Ratcliffe, M and Shaw, LM and Simon, AJ and Soares, H and Teunissen, CE and Verbeek, MM and Umek, RM and Vanderstichele, H and Zetterberg, H and Blennow, K and Portelius, E (2012) Reference measurement procedures for Alzheimer's disease cerebrospinal fluid biomarkers: definitions and approaches with focus on amyloid β42. Biomark Med , 6 (4) 409 - 417. 10.2217/bmm.12.39.

Mattsson, N and Zetterberg, H (2012) What is a certified reference material? Biomark Med , 6 (4) 369 - 370. 10.2217/bmm.12.37.

McGlincy, NJ and Valomon, A and Chesham, JE and Maywood, ES and Hastings, MH and Ule, J (2012) Regulation of alternative splicing by the circadian clock and food related cues. Genome biology , 13 R54 - ?. 10.1186/gb-2012-13-6-r54.

McNaughton, D and Knight, W and Guerreiro, R and Ryan, N and Lowe, J and Poulter, M and Nicholl, DJ and Hardy, J and Revesz, T and Lowe, J and Rossor, M and Collinge, J and Mead, S (2012) Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. Neurobiol Aging , 33 (2) 426.e13 - 426.e21. 10.1016/j.neurobiolaging.2010.10.010.

McNaughton, D and Knight, W and Guerreiro, R and Ryan, N and Lowe, J and Poulter, M and Nicholl, DJ and Hardy, J and Revesz, T and Rossor, M and Collinge, J and Mead, S (2012) Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. Neurobiology of Aging , 33 (2) 426.e13 - 426.e21.

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

Mead, S and Beck, J and Poulter, M and Rohrer, J and Adamson, G and Hensman, D and Polke, J and Campbell, T and Uphill, J and Borg, A and Tabrizi, S and Isaacs, A and Hardy, J and Warren, J and Collinge, J (2012) Large C9ORF72 hexanucleotide expansions arise spontaneously in the healthy population but can be distinguished from pathogenic mutations by Sothern Blotting. In: DEMENTIA AND GERIATRIC COGNITIVE DISORDERS. (pp. 285 - 286).

Miller, A and Ahmed, M and Hanna, MG and Greensmith, L (2012) DEVELOPING NEW THERAPEUTIC STRATEGIES FOR INCLUSION BODY MYOSITIS. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Mirza, B and Shi, WY and Phadke, R and Holton, JL and Turner, C and Plant, GT and Brew, S and Kitchen, N and Zrinzo, L (2012) Strawberries on the Brain-Intracranial Capillary Hemangioma: Two Case Reports and Systematic Literature Review in Children and Adults. World Neurosurg 10.1016/j.wneu.2012.12.013.

Mittag, F and Büchel, F and Saad, M and Jahn, A and Schulte, C and Bochdanovits, Z and Simón-Sánchez, J and Nalls, MA and Keller, M and Hernandez, DG and Gibbs, JR and Lesage, S and Brice, A and Heutink, P and Martinez, M and Wood, NW and Hardy, J and Singleton, AB and Zell, A and Gasser, T and Sharma, M (2012) Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities. Human Mutation , 33 (12) 1708 - 1718.

Mittag, F and Büchel, F and Saad, M and Jahn, A and Schulte, C and Bochdanovits, Z and Simón-Sánchez, J and Nalls, MA and Keller, M and Hernandez, DG and Gibbs, JR and Lesage, S and Brice, A and Heutink, P and Martinez, M and Wood, NW and Hardy, J and Singleton, AB and Zell, A and Gasser, T and Sharma, M and International Parkinson’s Disease Genomics Consortium, (2012) Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities. Hum Mutat , 33 (12) 1708 - 1718. 10.1002/humu.22161.

Mok, K and Traynor, BJ and Schymick, J and Tienari, PJ and Laaksovirta, H and Peuralinna, T and Myllykangas, L and Chiò, A and Shatunov, A and Boeve, BF and Boxer, AL and DeJesus-Hernandez, M and Mackenzie, IR and Waite, A and Williams, N and Morris, HR and Simón-Sánchez, J and van Swieten, JC and Heutink, P and Restagno, G and Mora, G and Morrison, KE and Shaw, PJ and Rollinson, PS and Al-Chalabi, A and Rademakers, R and Pickering-Brown, S and Orrell, RW and Nalls, MA and Hardy, J (2012) Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging , 33 (1) 209.e3 - 209.e8. 10.1016/j.neurobiolaging.2011.08.005.

Mok, KY and Koutsis, G and Schottlaender, LV and Polke, J and Panas, M and Houlden, H (2012) High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. Neurobiol Aging , 33 (8) 1851.e1 - 1851.e5. 10.1016/j.neurobiolaging.2012.02.021.

Morrow, J and Sinclair, CDJ and Fischmann, A and Thornton, JS and Yousry, TA and Reilly, MM and Hanna, MG (2012) MRI QUANTIFICATION OF LOWER LIMB MUSCLE FATTY ATROPHY: A POTENTIAL OUTCOME MEASURE IN CHRONIC NEUROMUSCULAR DISEASES. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Morrow, JM and D'Sa, S and Page, RA and Hilali, MA and Lunn, MP and Reilly, MM (2012) Rituximab responsive multiple radiculopathies and cranial nerve palsies in association with chronic lymphocytic leukaemia. J Neurol , 259 (3) 571 - 573. 10.1007/s00415-011-6217-4.

Morrow, JM and Sinclair, CDJ and Fischmann, A and Thornton, JS and Reilly, MM and Hanna, MG and Yousry, TA (2012) MRI quantification of abnormal muscle water distribution in chronic neuromuscular diseases: a sensitive biomarker. In: NEUROMUSCULAR DISORDERS. (pp. S33 - S33).

Murphy, SM and Davidson, GL and Brandner, S and Houlden, H and Reilly, MM (2012) Mutation in FAM134B causing severe hereditary sensory neuropathy. J Neurol Neurosurg Psychiatry , 83 (1) 119 - 120. 10.1136/jnnp.2010.228965.

Murphy, SM and Laura, M and Fawcett, K and Pandraud, A and Liu, YT and Davidson, GL and Rossor, AM and Polke, JM and Castleman, V and Manji, H and Lunn, MP and Bull, K and Ramdharry, G and Davis, M and Blake, JC and Houlden, H and Reilly, MM (2012) Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry , 83 (7) 706 - 710. 10.1136/jnnp-2012-302451.

Murphy, SM and Ovens, R and Polke, J and Siskind, CE and Laurà, M and Bull, K and Ramdharry, G and Houlden, H and Murphy, RP and Shy, ME and Reilly, MM (2012) X inactivation in females with X-linked Charcot-Marie-Tooth disease. Neuromuscul Disord , 22 (7) 617 - 621. 10.1016/j.nmd.2012.02.009.

Nesbitt, V and Pitceathly, R and Cockell, S and Poulton, J and Rahman, S and Hanna, M and Turnbull, D and McFarland, R (2012) The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study UK: from conceptualisation to utilisation. In: NEUROMUSCULAR DISORDERS. (pp. S24 - S24).

Nethisinghe, S and Menon, RP and Faggiano, S and Vannocci, T and Rezaei, H and Pemble, S and Sweeney, MG and Davis, MB and Wood, NW and Pastore, A and Giunti, P (2012) The role of interruptions in the polyglutamine tract of ATXN1 in SCA1 pathology. In: JOURNAL OF MEDICAL GENETICS. (pp. S91 - S91).

Noyce, A and Bestwick, J and Hawkes, CH and Knowles, CH and Hardy, J and Lees, AJ and Silveira-Moriyama, L and Giovannoni, G and Schrag, A (2012) AN ALGORITHM TO IDENTIFY INDIVIDUALS AT HIGH-RISK OF PARKINSON'S DISEASE IN THE COMMUNITY. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Noyce, A and Silveira-Moriyama, L and Lees, AJ and Schrag, A and Bestwick, J and Hawkes, CH and Giovannoni, G and Hardy, J and Knowles, CH (2012) A PILOT STUDY OF AN ALGORITHM DESIGNED TO IDENTIFY PARKINSON'S DISEASE IN THE EARLY, NON-MOTOR PHASE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Noyce, AJ and Silveira-Moriyama, L and Gilpin, P and Ling, H and Howard, R and Lees, AJ (2012) Severe dysphagia as a presentation of Parkinson's disease. Mov Disord , 27 (3) 457 - 458. 10.1002/mds.24006.

Ozawa, T and Revesz, T and Paviour, D and Lees, AJ and Quinn, N and Tada, M and Kakita, A and Onodera, O and Wakabayashi, K and Takahashi, H and Nishizawa, M and Holton, JL (2012) Difference in MSA Phenotype Distribution Between Populations: Genetics or Environment? JOURNAL OF PARKINSONS DISEASE , 2 (1) 7 - 18. 10.3233/JPD-2012-11056.

Paisán-Ruiz, C and Li, A and Schneider, SA and Holton, JL and Johnson, R and Kidd, D and Chataway, J and Bhatia, KP and Lees, AJ and Hardy, J and Revesz, T and Houlden, H (2012) Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging , 33 (4) 814 - 823. 10.1016/j.neurobiolaging.2010.05.009.

Papkovskaia, TD and Chau, KY and Inesta-Vaquera, F and Papkovsky, DB and Healy, DG and Nishio, K and Staddon, J and Duchen, MR and Hardy, J and Schapira, AH and Cooper, JM (2012) G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization. Hum Mol Genet , 21 (19) 4201 - 4213. 10.1093/hmg/dds244. An open access publication

Parén, L and Palmqvist, L and Barkhordar, GS and Hellgren, M and Zetterberg, H (2012) Pregnancy and a rare MTHFR haplotype. Acta Obstet Gynecol Scand , 91 (5) 635 - 636. 10.1111/j.1600-0412.2012.01380.x.

Patani, R and Lewis, PA and Trabzuni, D and Puddifoot, CA and Wyllie, DJ and Walker, R and Smith, C and Hardingham, GE and Weale, M and Hardy, J and Chandran, S and 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 (4) 738 - 751. 10.1111/j.1471-4159.2012.07825.x.

Patani, R and Sibley, CR and Chandran, S and Ule, J (2012) Using human pluripotent stem cells to study post-transcriptional mechanisms of neurodegenerative diseases. Brain Res , 1462 129 - 138. 10.1016/j.brainres.2011.12.057.

Paudel, R and Hardy, J and Revesz, T and Holton, JL and Houlden, H (2012) Review: genetics and neuropathology of primary pure dystonia. Neuropathol Appl Neurobiol , 38 (6) 520 - 534. 10.1111/j.1365-2990.2012.01298.x.

Paudel, R and Hardy, J and Revesz, T and Holton, JL and Houlden, H (2012) Review: Genetics and neuropathology of primary pure dystonia. Neuropathology and Applied Neurobiology , 38 (6) 520 - 534.

Peall, K and Waite, A and Kurian, M and Wardle, M and Hedderly, T and Lin, JP and Smith, M and Pall, H and King, M and Lynch, T and White, C and Chinnery, P and Warner, T and Blake, D and Owen, M and Morris, H (2012) Myoclonus dystonia syndrome: SGCE mutations and psychiatric disease. In: JOURNAL OF NEUROLOGY. (pp. S30 - S30).

Peall, K and Waite, AJ and Kurian, MA and Hedderly, T and Smith, M and Lin, JP and Warner, TT and Pall, H and Chinnery, P and Whone, A and Owen, MJ and Blake, DJ and Morris, HR (2012) MYOCLONUS DYSTONIA: A CLINICAL AND GENETIC DESCRIPTION. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Petrovic, IN and Ling, H and Asi, Y and Ahmed, Z and Kukkle, PL and Hazrati, LN and Lang, AE and Revesz, T and Holton, JL and Lees, AJ (2012) Multiple system atrophy-parkinsonism with slow progression and prolonged survival: a diagnostic catch. Mov Disord , 27 (9) 1186 - 1190. 10.1002/mds.25115.

Piceathly, RDS and Smith, C and Fratter, C and Blakely, EL and Alston, CL and Deschauer, M and Horvath, R and Hanna, MG and Chinnery, PF and Turnbull, DM and Poulton, J and Taylor, RW and Gorman, GS (2012) Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease. In: NEUROMUSCULAR DISORDERS. (pp. S23 - S23).

Pimenta de Castro, I and Costa, AC and Lam, D and Tufi, R and Fedele, V and Moisoi, N and Dinsdale, D and Deas, E and Loh, SH and Martins, LM (2012) Genetic analysis of mitochondrial protein misfolding in Drosophila melanogaster. Cell Death Differ , 19 (8) 1308 - 1316. 10.1038/cdd.2012.5.

Pitceathly, RD and Murphy, SM and Cottenie, E and Chalasani, A and Sweeney, MG and Woodward, C and Mudanohwo, EE and Hargreaves, I and Heales, S and Land, J and Holton, JL and Houlden, H and Blake, J and Champion, M and Flinter, F and Robb, SA and Page, R and Rose, M and Palace, J and Crowe, C and Longman, C and Lunn, MP and Rahman, S and Reilly, MM and Hanna, MG (2012) Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. In: Neurology. (pp. 1145 - 1154).

Pitceathly, RD and Rahman, S and Hanna, MG (2012) Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice. Neuromuscul Disord , 22 (7) 577 - 586. 10.1016/j.nmd.2012.03.009.

Pitceathly, RD and Smith, C and Fratter, C and Alston, CL and He, L and Craig, K and Blakely, EL and Evans, JC and Taylor, J and Shabbir, Z and Deschauer, M and Pohl, U and Roberts, ME and Jackson, MC and Halfpenny, CA and Turnpenny, PD and Lunt, PW and Hanna, MG and Schaefer, AM and McFarland, R and Horvath, R and Chinnery, PF and Turnbull, DM and Poulton, J and Taylor, RW and Gorman, GS (2012) Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain , 135 (Pt 11) 3392 - 3403. 10.1093/brain/aws231. An open access publication

Pitceathly, RDS and Murphy, SM and Cottenie, E and Chalasani, A and Sweeney, MG and Woodward, C and Mudanohwo, EE and Hargreaves, I and Heales, S and Land, J and Holton, JL and Houlden, H and Blake, J and Champion, M and Flinter, F and Robb, SA and Page, R and Palace, J and Crowe, C and Longman, C and Lunn, MP and Rahman, S and Reilly, MM and Hanna, MG (2012) Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. NEUROLOGY , 79 (11) 1145 - 1154.

Pitceathly, RDS and Rahman, S and Hanna, MG (2012) Single deletions in mitochondrial DNA - Molecular mechanisms and disease phenotypes in clinical practice. Neuromuscular Disorders , 22 (7) 577 - 586.

Pitceathly, RDS and Smith, C and Fratter, C and Alston, CL and He, L and Craig, K and Blakely, EL and Evans, JC and Taylor, J and Shabbir, Z and Deschauer, M and Pohl, U and Roberts, ME and Jackson, MC and Halfpenny, CA and Turnpenny, PD and Lunt, PW and Hanna, MG and Schaefer, AM and McFarland, R and Horvath, R and Chinnery, PF and Turnbull, DM and Poulton, J and Taylor, RW and Gorman, GS (2012) Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain , 135 (11) 3392 - 3403.

Pitceathly, RDS and Tomlinson, SE and Hargreaves, I and Bhardwaj, N and Holton, JL and Evans, J and Smith, C and Fratter, C and Woodward, C and Sweeney, MG and Hanna, MG and Rahman, S (2012) NOVEL DOMINANT POLG MUTATIONS CAUSE DISTAL MYOPATHY. In: JOURNAL OF INHERITED METABOLIC DISEASE. (pp. S119 - S119).

Pittman, A and Mencacci, N and Sheerin, U and Charlesworth, G and Deborah, H and Haworth, A and Sweeney, M and Wood, N and Houlden, H and Hardy, J and Lees, A (2012) A comprehensive diagnostic test for familial and early onset Parkinson's disease based on next-generation sequencing. In: JOURNAL OF MEDICAL GENETICS. (pp. S122 - S122).

Plagnol, V and Curtis, J and Epstein, M and Mok, KY and Stebbings, E and Grigoriadou, S and Wood, NW and Hambleton, S and Burns, SO and Thrasher, AJ and Kumararatne, D and Doffinger, R and Nejentsev, S (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. An open access publication

Plun-Favreau, H and Burchell, VS and Holmström, KM and Yao, Z and Deas, E and Cain, K and Fedele, V and Moisoi, N and Campanella, M and Miguel Martins, L and Wood, NW and Gourine, AV and Abramov, AY (2012) HtrA2 deficiency causes mitochondrial uncoupling through the F₁F₀-ATP synthase and consequent ATP depletion. Cell Death Dis , 3 e335 - ?. 10.1038/cddis.2012.77. An open access publication

Polke, J and Mok, K and Poulter, M and Lashley, T and Beck, J and Wood, NW and Hardy, J and Sweeney, MG and Haworth, A and Houlden, H (2012) Diagnostic testing for the frontotemporal dementia/amyotrophic lateral sclerosis (GGGGCC)n expansion in C9orf72. In: JOURNAL OF MEDICAL GENETICS. (pp. S122 - S122).

Pradeepa, MM and Sutherland, HG and Ule, J and Grimes, GR and Bickmore, WA (2012) Psip1/Ledgf p52 binds methylated histone H3K36 and splicing factors and contributes to the regulation of alternative splicing. PLoS Genet , 8 e1002717 - ?. 10.1371/journal.pgen.1002717. An open access publication

Pressey, SN and Smith, DA and Wong, AM and Platt, FM and Cooper, JD (2012) Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice. Neurobiol Dis , 45 (3) 1086 - 1100. 10.1016/j.nbd.2011.12.027.

Proukakis, C and Moore, D and Labrum, R and Wood, NW and Houlden, H (2012) HEREDITARY SPASTIC PARAPLEGIA CAUSED BY SPASTIN (SPAST, SPG4) MUTATIONS IS FOUND MORE OFTEN IN MALES: REPORT OF NOVEL MUTATIONS FROM ONE CENTRE, AND REVIEW OF PUBLISHED LITERATURE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Pulkes, T and Dejthevaporn, C and Apiwattanakul, M and Papsing, C and Hanna, MG (2012) Paroxysmal neuromyotonia: A new sporadic channelopathy. NEUROMUSCULAR DISORDERS , 22 (6) 479 - 482. 10.1016/j.nmd.2012.01.004.

Raheem, O and Penttila, S and Suominen, T and Kaakinen, M and Burge, J and Haworth, A and Sud, R and Schorge, S and Haapasalo, H and Sandell, S and Metsikko, K and Hanna, M and Udd, B (2012) New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics. In: NEUROMUSCULAR DISORDERS. (pp. 898 - 898).

Raheem, O and Penttilä, S and Suominen, T and Kaakinen, M and Burge, J and Haworth, A and Sud, R and Schorge, S and Haapasalo, H and Sandell, S and Metsikkö, K and Hanna, M and Udd, B (2012) New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics. Neurology , 79 (22) 2194 - 2200. 10.1212/WNL.0b013e31827595e2.

Raja Rayan, DL and Haworth, A and Sud, R and Matthews, E and Fialho, D and Burge, J and Portaro, S and Schorge, S and Tuin, K and Lunt, P and McEntagart, M and Toscano, A and Davis, MB and Hanna, MG (2012) A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. Neurology , 78 (24) 1953 - 1958. 10.1212/WNL.0b013e318259e19c. An open access publication

Rajakulendran, S and Kaski, D and Hanna, MG (2012) Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS. Nat Rev Neurol , 8 (2) 86 - 96. 10.1038/nrneurol.2011.228.

Rayan, DLR and Matthews, E and Barreto, G and Tan, SV and Dewar, L and Burge, J and Wang, Y and Trivedi, J and Ciafaloni, E and Salajegheh, M and Venance, S and Meola, G and Bundy, B and Herbelin, L and Statland, J and Griggs, R and Barohn, R and Hanna, MG and Grp, CINCH (2012) Efficacy of mexiletine in non-dystrophic myotonia: results of an international multi-centred randomised controlled trial. In: NEUROMUSCULAR DISORDERS. (pp. S4 - S4).

Rayan, DR and Barohn, RJ and Bundy, B and Wang, Y and Herbelin, L and Trivedi, J and Venance, S and Meola, G and Griggs, RC and Hanna, MG and Grp, CINCHS (2012) MEXILETINE IS AN EFFECTIVE TREATMENT IN NON-DYSTROPHIC MYOTONIA. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Rayan, DR and Haworth, A and Sud, R and Matthews, E and Fialho, D and Burge, J and Portaro, S and Toscano, A and Davis, MD and Hanna, MG (2012) SKELETAL MUSCLE CHLORIDE CHANNEL GENE (CLCN1) COPY NUMBER VARIATION CAN CAUSE MYOTONIA CONGENITA. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Rayan, DR and Haworth, A and Sud, R and McCall, S and Tan, SV and Durran, S and Davis, M and Hanna, MG (2012) IDENTIFYING THE CAUSE OF PHENOTYPIC VARIABILITY IN A FAMILY WITH NON-DYSTROPHIC MYOTONIA. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Revesz, T (2012) Update on tauopathies: pathological features. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 822 - 822).

Reza, M and Johnson, D and Cox, D and Laval, S and Chaouch, A and Barresi, R and Morgan, J and Bushby, K and Straub, V and Muntoni, F and Lochmueller, H (2012) MRC NMD Centre Biobank: An overview. In: NEUROMUSCULAR DISORDERS. (pp. S34 - S34).

Ricotti, V and Engledow, E and Emmanuel, A and Knowles, J and Walker, D and Giordano, P and Simonds, A and Hanna, M and Quinlivan, R (2012) Recurrent pseudo-obstruction and sigmoid volvulus in Duchenne Muscular Dystrophy: A case report. In: NEUROMUSCULAR DISORDERS. (pp. 887 - 888).

Ricotti, V and Scoto, M and Mandy, WPL and Entwistle, K and Robb, SA and Mercuri, E and Skuse, DH and Muntoni, F (2012) Neurobehavioural disorders in Duchenne Muscular Dystrophy. In: NEUROMUSCULAR DISORDERS. (pp. 887 - 887).

Rogelj, B and Easton, LE and Bogu, GK and Stanton, LW and Rot, G and Curk, T and Zupan, B and Sugimoto, Y and Modic, M and Haberman, N and Tollervey, J and Fujii, R and Takumi, T and Shaw, CE and Ule, J (2012) Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain. Scientific reports , 2 603 - ?. 10.1038/srep00603. An open access publication

Rogers, I and Kerr, F and Martinez, P and Hardy, J and Lovestone, S and Partridge, L (2012) Ageing increases vulnerability to aβ42 toxicity in Drosophila. PLOS One , 7 (7) , Article e40569. 10.1371/journal.pone.0040569. An open access publication. A version is also available from UCL Discovery.

Rossor, A and Kalmar, B and Gray, A and Mustill, W and Schiavo, G and Cheetham, ME and Reilly, MM and Greensmith, L and Novoselov, S (2012) AN IN-VITRO STUDY OF DISTAL HEREDITARY MOTOR NEUROPATHY DUE TO HOMOZYGOUS HSJ1 MUTATIONS. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Rossor, AM and Davidson, G and Houlden, HH and Kalmar, B and Greensmith, L and Reilly, MM (2012) A novel p.glu175x premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2. In: NEUROMUSCULAR DISORDERS. (pp. S21 - S21).

Rossor, AM and Davidson, GL and Blake, J and Polke, JM and Murphy, SM and Houlden, H and Innes, A and Kalmar, B and Greensmith, L and Reilly, MM (2012) A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2. J Peripher Nerv Syst , 17 (2) 201 - 205. 10.1111/j.1529-8027.2012.00400.x.

Rossor, AM and Kalmar, B and Greensmith, L and Reilly, MM (2012) The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry , 83 (1) 6 - 14. 10.1136/jnnp-2011-300952.

Rossor, AM and Murphy, S and Reilly, MM (2012) Knee bobbing in Charcot-Marie-Tooth disease. Pract Neurol , 12 (3) 182 - 183. 10.1136/practneurol-2011-000167.

Sailer, A and Houlden, H (2012) Recent advances in the genetics of cerebellar ataxias. Curr Neurol Neurosci Rep , 12 (3) 227 - 236. 10.1007/s11910-012-0267-6.

Sailer, A and Scholz, SW and Gibbs, JR and Tucci, A and Johnson, JO and Wood, NW and Plagnol, V and Hummerich, H and Ding, J and Hernandez, D and Hardy, J and Federoff, HJ and Traynor, BJ and Singleton, AB and Houlden, H (2012) Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology , 79 (2) 127 - 131. 10.1212/WNL.0b013e31825f048e. An open access publication

Scharf, J and Yu, D and Mathews, C and Neale, B and Stewart, E and Fagerness, J and Evans, P and Gamazon, E and Service, S and Osiecki, L and Illmann, C and Cath, D and King, R and Dion, Y and Sandor, P and Barr, C and Budman, C and Lyon, G and Grados, M and Singer, H and Jankovic, J and Gilbert, D and Hoekstra, P and Heiman, G and Tischfield, J and State, M and Robertson, M and Kurlan, R and Ophoff, R and Gibbs, JR and Cookson, M and Hardy, J and Singleton, A and Ruiz-Linares, A and Rouleau, G and Heutink, P and Oostra, B and McMahon, W and Freimer, N and Cox, N and Pauls, D (2012) Genome-Wide Association Study of Gilles de la Tourette Syndrome. In: NEUROLOGY.

Schneider, SA and Hardy, J and Bhatia, KP (2012) Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord , 27 (1) 42 - 53. 10.1002/mds.23971.

Schor, IE and Lleres, D and Risso, GJ and Pawellek, A and Ule, J and Lamond, AI and Kornblihtt, AR (2012) Perturbation of chromatin structure globally affects localization and recruitment of splicing factors. PLoS One , 7 e48084 - ?. 10.1371/journal.pone.0048084. An open access publication

Schottlaender, LV and Mencacci, N and Koepp, M and Hanna, M and Hardy, J and Lees, AJ and Houlden, H (2012) Interesting clinical features associated with mutations in the SLC20A2 gene. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 40 - 40).

Seow, Y and Sibley, CR and Wood, MJ (2012) Artificial mirtron-mediated gene knockdown: functional DMPK silencing in mammalian cells. RNA , 18 (7) 1328 - 1337. 10.1261/rna.030601.111.

Setó-Salvia, N and Pagonabarraga, J and Houlden, H and Pascual-Sedano, B and Dols-Icardo, O and Tucci, A and Paisán-Ruiz, C and Campolongo, A and Antón-Aguirre, S and Martín, I and Muñoz, L and Bufill, E and Vilageliu, L and Grinberg, D and Cozar, M and Blesa, R and Lleó, A and Hardy, J and Kulisevsky, J and Clarimón, J (2012) Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course. Mov Disord , 27 (3) 393 - 399. 10.1002/mds.24045.

Sheerin, UM and Charlesworth, G and Bras, J and Guerreiro, R and Bhatia, K and Foltynie, T and Limousin, P and Silveira-Moriyama, L and Lees, A and Wood, N (2012) Screening for VPS35 mutations in Parkinson's disease. Neurobiol Aging , 33 (4) 838.e1 - 838.e5. 10.1016/j.neurobiolaging.2011.10.032.

Sibley, CR and Attig, J and Ule, J (2012) The greatest catch: big game fishing for mRNA-bound proteins. Genome Biol , 13 (7) 163 - ?. 10.1186/gb4030.

Sibley, CR and Seow, Y and Curtis, H and Weinberg, MS and Wood, MJ (2012) Silencing of Parkinson's disease-associated genes with artificial mirtron mimics of miR-1224. Nucleic Acids Res , 40 (19) 9863 - 9875. 10.1093/nar/gks712.

Sibley, CR and Seow, Y and Saayman, S and Dijkstra, KK and El Andaloussi, S and Weinberg, MS and Wood, MJ (2012) The biogenesis and characterization of mammalian microRNAs of mirtron origin. Nucleic Acids Res , 40 (1) 438 - 448. 10.1093/nar/gkr722.

Simon-Sanchez, J and Kilarski, LL and Nalls, MA and Martinez, M and Schulte, C and Holmans, P and Gasser, T and Hardy, J and Singleton, AB and Wood, NW and Brice, A and Heutink, P and Williams, N and Morris, HR and Conso, IPDG and Consor, WTCC (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. An open access publication. A version is also available from UCL Discovery.

Sinclair, CD and Morrow, JM and Fischmann, A and Hanna, MG and Reilly, MM and Yousry, TA and Golay, X and Thornton, JS (2012) Novel muscle fat-fraction MRI metrics for quantifying neuromuscular pathology. In: NEUROMUSCULAR DISORDERS. (pp. S33 - S33).

Sinclair, CD and Morrow, JM and Hanna, MG and Reilly, MM and Yousry, TA and Golay, X and Thornton, JS (2012) Correcting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps. NMR Biomed , 25 (2) 262 - 270. 10.1002/nbm.1744.

Sinclair, CD and Morrow, JM and Miranda, MA and Davagnanam, I and Cowley, PC and Mehta, H and Hanna, MG and Koltzenburg, M and Yousry, TA and Reilly, MM and Thornton, JS (2012) Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies. J Neurol Neurosurg Psychiatry , 83 (1) 29 - 32. 10.1136/jnnp.2011.246116.

Sinclair, CDJ and Morrow, JM and Hanna, MG and Reilly, MM and Yousry, TA and Golay, X and Thornton, JS (2012) Correcting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps. NMR in Biomedicine , 25 (2) 262 - 270.

Sinclair, CDJ and Morrow, JM and Miranda, MA and Davagnanam, I and Cowley, PC and Mehta, H and Hanna, MG and Koltzenburg, M and Yousry, TA and Reilly, MM and Thornton, JS (2012) Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies. Journal of Neurology, Neurosurgery and Psychiatry , 83 (1) 29 - 32.

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

Statland, J and Salajegheh, M and Bundy, B and Wang, Y and Rayan, DR and Trivedi, J and Sansone, V and Venance, S and Ciafaloni, E and Matthews, E and Meola, G and Zanolini, A and Ciocca, M and Herbelin, L and Griggs, R and Barohn, R and Hanna, M and Invest, CC (2012) Phase II Therapeutic Trial of Mexiletine in Non-Dystrophic Myotonia: Secondary Outcomes Show Improvement in Symptoms and Signs of Myotonia. In: NEUROLOGY.

Statland, JM and Bundy, BN and Wang, Y and Rayan, DR and Trivedi, JR and Sansone, VA and Salajegheh, MK and Venance, SL and Ciafaloni, E and Matthews, E and Meola, G and Herbelin, L and Griggs, RC and Barohn, RJ and Hanna, MG and Consortium for Clinical Investigation of Neurologic Channelopathies, (2012) Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. JAMA , 308 (13) 1357 - 1365. 10.1001/jama.2012.12607.

Statland, JM and Bundy, BN and Wang, Y and Trivedi, JR and Raja Rayan, D and Herbelin, L and Donlan, M and McLin, R and Eichinger, KJ and Findlater, K and Dewar, L and Pandya, S and Martens, WB and Venance, SL and Matthews, E and Amato, AA and Hanna, MG and Griggs, RC and Barohn, RJ and CINCH Consortium, (2012) A quantitative measure of handgrip myotonia in non-dystrophic myotonia. Muscle Nerve , 46 (4) 482 - 489. 10.1002/mus.23402.

Stein, JL and Medland, SE and Vasquez, AA and Hibar, DP and Senstad, RE and Winkler, AM and Toro, R and Appel, K and Bartecek, R and Bergmann, Ø and Bernard, M and Brown, AA and Cannon, DM and Chakravarty, MM and Christoforou, A and Domin, M and Grimm, O and Hollinshead, M and Holmes, AJ and Homuth, G and Hottenga, JJ and Langan, C and Lopez, LM and Hansell, NK and Hwang, KS and Kim, S and Laje, G and Lee, PH and Liu, X and Loth, E and Lourdusamy, A and Mattingsdal, M and Mohnke, S and Maniega, SM and Nho, K and Nugent, AC and O'Brien, C and Papmeyer, M and Pütz, B and Ramasamy, A and Rasmussen, J and Rijpkema, M and Risacher, SL and Roddey, JC and Rose, EJ and Ryten, M and Shen, L and Sprooten, E and Strengman, E and Teumer, A and Trabzuni, D and Turner, J and van Eijk, K and van Erp, TG and van Tol, MJ and Wittfeld, K and Wolf, C and Woudstra, S and Aleman, A and Alhusaini, S and Almasy, L and Binder, EB and Brohawn, DG and Cantor, RM and Carless, MA and Corvin, A and Czisch, M and Curran, JE and Davies, G and de Almeida, MA and Delanty, N and Depondt, C and Duggirala, R and Dyer, TD and Erk, S and Fagerness, J and Fox, PT and Freimer, NB and Gill, M and Göring, HH and Hagler, DJ and Hoehn, D and Holsboer, F and Hoogman, M and Hosten, N and Jahanshad, N and Johnson, MP and Kasperaviciute, D and Kent, JW and Kochunov, P and Lancaster, JL and Lawrie, SM and Liewald, DC and Mandl, R and Matarin, M and Mattheisen, M and Meisenzahl, E and Melle, I and Moses, EK and Mühleisen, TW and Nauck, M and Nöthen, MM and Olvera, RL and Pandolfo, M and Pike, GB and Puls, R and Reinvang, I and Rentería, ME and Rietschel, M and Roffman, JL and Royle, NA and Rujescu, D and Savitz, J and Schnack, HG and Schnell, K and Seiferth, N and Smith, C and Steen, VM and Valdés Hernández, MC and Van den Heuvel, M and van der Wee, NJ and Van Haren, NE and Veltman, JA and Völzke, H and Walker, R and Westlye, LT and Whelan, CD and Agartz, I and Boomsma, DI and Cavalleri, GL and Dale, AM and Djurovic, S and Drevets, WC and Hagoort, P and Hall, J and Heinz, A and Jack, CR and Foroud, TM and Le Hellard, S and Macciardi, F and Montgomery, GW and Poline, JB and Porteous, DJ and Sisodiya, SM and Starr, JM and Sussmann, J and Toga, AW and Veltman, DJ and Walter, H and Weiner, MW and Alzheimer's Disease Neuroimaging Initiative, and EPIGEN Consortium, and IMAGEN Consortium, and Saguenay Youth Study Group, and Bis, JC and Ikram, MA and Smith, AV and Gudnason, V and Tzourio, C and Vernooij, MW and Launer, LJ and DeCarli, C and Seshadri, S and Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium, and Andreassen, OA and Apostolova, LG and Bastin, ME and Blangero, J and Brunner, HG and Buckner, RL and Cichon, S and Coppola, G and de Zubicaray, GI and Deary, IJ and Donohoe, G and de Geus, EJ and Espeseth, T and Fernández, G and Glahn, DC and Grabe, HJ and Hardy, J and Hulshoff Pol, HE and Jenkinson, M and Kahn, RS and McDonald, C and McIntosh, AM and McMahon, FJ and McMahon, KL and Meyer-Lindenberg, A and Morris, DW and Müller-Myhsok, B and Nichols, TE and Ophoff, RA and Paus, T and Pausova, Z and Penninx, BW and Potkin, SG and Sämann, PG and Saykin, AJ and Schumann, G and Smoller, JW and Wardlaw, JM and Weale, ME and Martin, NG and Franke, B and Wright, MJ and Thompson, PM and Enhancing Neuro Imaging Genetics through Meta-Analysis Consortium, (2012) Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet , 44 (5) 552 - 561. 10.1038/ng.2250.

Stein, JL and Medland, SE and Vasquez, AA and Hibar, DP and Senstad, RE and Winkler, AM and Toro, R and Appel, K and Bartecek, R and Bergmann, O and Bernard, M and Brown, AA and Cannon, DM and Chakravarty, MM and Christoforou, A and Domin, M and Grimm, O and Hollinshead, M and Holmes, AJ and Homuth, G and Hottenga, J-J and Langan, C and Lopez, LM and Hansell, NK and Hwang, KS and Kim, S and Laje, G and Lee, PH and Liu, X and Loth, E and Lourdusamy, A and Mattingsdal, M and Mohnke, S and Maniega, SM and Nho, K and Nugent, AC and O'brien, C and Papmeyer, M and Pütz, B and Ramasamy, A and Rasmussen, J and Rijpkema, M and Risacher, SL and Roddey, JC and Rose, EJ and Ryten, M and Shen, L and Sprooten, E and Strengman, E and Teumer, A and Trabzuni, D and Turner, J and Van Eijk, K and Van Erp, TGM and Van Tol, M-J and Wittfeld, K and Wolf, C and Woudstra, S and Aleman, A and Alhusaini, S and Almasy, L and Binder, EB and Brohawn, DG and Cantor, RM and Carless, MA and Corvin, A and Czisch, M and Curran, JE and Davies, G and De Almeida, MAA and Delanty, N and Depondt, C and Duggirala, R and Dyer, TD and Erk, S and Fagerness, J and Fox, PT and Freimer, NB and Gill, M and Göring, HHH and Hagler, DJ and Hoehn, D and Holsboer, F and Hoogman, M and Hosten, N and Jahanshad, N and Johnson, MP and Kasperaviciute, D and Kent, JW and Kochunov, P and Lancaster, JL and Lawrie, SM and Liewald, DC and Mandl, R and Matarin, M and Mattheisen, M and Meisenzahl, E and Melle, I and Moses, EK and Mühleisen, TW and Nauck, M and Nöthen, MM and Olvera, RL and Pandolfo, M and Pike, GB and Puls, R and Reinvang, I and Rentería, ME and Rietschel, M and Roffman, JL and Royle, NA and Rujescu, D and Savitz, J and Schnack, HG and Schnell, K and Seiferth, N and Smith, C and Steen, VM and Hernández, MCV and Van Den Heuvel, M and Van Der Wee, NJ and Van Haren, NEM and Veltman, JA and Völzke, H and Walker, R and Westlye, LT and Whelan, CD and Agartz, I and Boomsma, DI and Cavalleri, GL and Dale, AM and Djurovic, S and Drevets, WC and Hagoort, P and Hall, J and Heinz, A and Jack, CR and Foroud, TM and Le Hellard, S and Macciardi, F and Montgomery, GW and Poline, JB and Porteous, DJ and Sisodiya, SM and Starr, JM and Sussmann, J and Toga, AW and Veltman, DJ and Walter, H and Weiner, MW and Bis, JC and Ikram, MA and Smith, AV and Gudnason, V and Tzourio, C and Vernooij, MW and Launer, LJ and Decarli, C and Seshadri, S and Andreassen, OA and Apostolova, LG and Bastin, ME and Blangero, J and Brunner, HG and Buckner, RL and Cichon, S and Coppola, G and De Zubicaray, GI and Deary, IJ and Donohoe, G and De Geus, EJC and Espeseth, T and Fernéndez, G and Glahn, DC and Grabe, HJ and Hardy, J and Hulshoff Pol, HE and Jenkinson, M and Kahn, RS and Mcdonald, C and Mcintosh, AM and Mcmahon, FJ and Mcmahon, KL and Meyer-Lindenberg, A and Morris, DW and Müller-Myhsok, B and Nichols, TE and Ophoff, RA and Paus, T and Pausova, Z and Penninx, BW and Potkin, SG and Sämann, PG and Saykin, AJ and Schumann, G and Smoller, JW and Wardlaw, JM and Weale, ME and Martin, NG and Franke, B and Wright, MJ and Thompson, PM (2012) Identification of common variants associated with human hippocampal and intracranial volumes. Nature Genetics , 44 (5) 552 - 561.

Stevens, J and Murphy, SM and Davagnanam, I and Phadke, R and Bremner, F and Anderson, G and Nethisinghe, S and Giunti, P and Reilly, MM (2012) ARSACS: A NOVEL PHENOTYPE CAUSING PERIPHERAL NEUROPATHY, ATAXIA AND SPASTICITY WITH SUPRANUCLEAR GAZE PALSY, MYOCLONUS AND EPILEPSY. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Stockner, H and Schwingenschuh, P and Djamshidian, A and Silveira-Moriyama, L and Katschnig, P and Seppi, K and Dickson, J and Edwards, MJ and Lees, AJ and Poewe, W and Bhatia, KP (2012) Is transcranial sonography useful to distinguish scans without evidence of dopaminergic deficit patients from Parkinson's disease? Movement Disorders , 27 (9) 1182 - 1185. 10.1002/mds.25102. An open access publication. A version is also available from UCL Discovery.

Strange, A and Riley, BP and Spencer, CCA and Morris, DW and Pirinen, M and O'Dushlaine, CT and Su, Z and Maher, BS and Freeman, C and Cormican, P and Bellenguez, C and Kenny, EM and Band, G and Wormley, B and Donohoe, G and Dilthey, A and Moutsianas, L and Quinn, E and Edkins, S and Judge, R and Coleman, K and Hunt, S and Tropea, D and Roche, S and Cummings, L and Kelleher, E and McKeon, P and Dinan, T and McDonald, C and Murphy, KC and O'Callaghan, E and O'Neill, FA and Waddington, JL and Walsh, D and Giannoulatou, E and Langford, C and Deloukas, P and Gray, E and Dronov, S and Potter, S and Pearson, R and Vukcevic, D and Tashakkori-Ghanbaria, A and Blackwell, JM and Bramon, E and Brown, MA and Casas, JP and Duncanson, A and Jankowski, J and Markus, HS and Mathew, CG and Palmer, CNA and Plomin, R and Rautanen, A and Sawcer, SJ and Trembath, RC and Viswanathan, AC and Wood, NW and Stone, J and Scolnick, E and Purcell, S and Sklar, P and Ripke, S and Walters, J and Owen, MJ and O'Donovan, MC and Peltonen, L and McVean, G and Kendler, KS and Gill, M and Donnelly, P and Corvin, A and Conso, ISG and Consortium, SGENE and Psychiat, SWG and Consor, WTCC (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) 620 - 628. 10.1016/j.biopsych.2012.05.035.

Sugimoto, Y and Konig, J and Hussain, S and Zupan, B and Curk, T and Frye, M and Ule, J (2012) Analysis of CLIP and iCLIP methods for nucleotide-resolution studies of protein-RNA interactions. Genome biology , 13 R67 - ?. 10.1186/gb-2012-13-8-r67.

Swaminathan, S and Huentelman, MJ and Corneveaux, JJ and Myers, AJ and Faber, KM and Foroud, T and Mayeux, R and Shen, L and Kim, S and Turk, M and Hardy, J and Reiman, EM and Saykin, AJ and ADNI, and Grp, NIA-LOADNCRADFS (2012) Analysis of Copy Number Variation in Alzheimer's Disease in a Cohort of Clinically Characterized and Neuropathologically Verified Individuals. PLOS ONE , 7 (12) , Article e50640. 10.1371/journal.pone.0050640. An open access publication. A version is also available from UCL Discovery.

Tan, SV and Z'graggen, WJ and Boërio, D and Rayan, DL and Howard, R and Hanna, MG and Bostock, H (2012) Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles. Muscle Nerve , 46 (2) 193 - 203. 10.1002/mus.23293.

Tomlinson, SE and Bostock, H and Grinton, B and Hanna, MG and Kullmann, DM and Kiernan, MC and Scheffer, IE and Berkovic, SF and Burke, D (2012) In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission. BRAIN , 135 3144 - 3152. 10.1093/brain/aws241.

Trabzuni, D and Ryten, M and Walker, R and Smith, C and Imran, S and Ramasamy, A and Weale, M and Hardy, J (2012) Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies (vol 119, pg 275, 2011). JOURNAL OF NEUROCHEMISTRY , 120 (3) 473 - 473. 10.1111/j.1471-4159.2011.07602.x.

Trabzuni, D and Wray, S and Vandrovcova, J and Ramasamy, A and Walker, R and Smith, C and Luk, C and Gibbs, JR and Dillman, A and Hernandez, DG and Arepalli, S and Singleton, AB and Cookson, MR and Pittman, AM and de Silva, R and Weale, ME and Hardy, J and Ryten, M (2012) MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Hum Mol Genet , 21 (18) 4094 - 4103. 10.1093/hmg/dds238. An open access publication

Trancikova, A and Mamais, A and Webber, PJ and Stafa, K and Tsika, E and Glauser, L and West, AB and Bandopadhyay, R and Moore, DJ (2012) Phosphorylation of 4E-BP1 in the mammalian brain is not altered by LRRK2 expression or pathogenic mutations. PLoS One , 7 (10) , Article e47784 . 10.1371/journal.pone.0047784. An open access publication. A version is also available from UCL Discovery.

Trivedi, J and Bundy, B and Rayan, DR and Salajegheh, M and Statland, J and Venance, S and Wang, Y and Fialho, D and Hart, K and Gorham, N and Herbelin, L and Amato, A and Hanna, M and Griggs, R and Barohn, R (2012) Clinical and Molecular Characterization of Non-Dystrophic Myotonia. In: NEUROLOGY.

Tsoi, LC and Spain, SL and Knight, J and Ellinghaus, E and Stuart, PE and Capon, F and Ding, J and Li, Y and Tejasvi, T and Gudjonsson, JE and Kang, HM and Allen, MH and McManus, R and Novelli, G and Samuelsson, L and Schalkwijk, J and Ståhle, M and Burden, AD and Smith, CH and Cork, MJ and Estivill, X and Bowcock, AM and Krueger, GG and Weger, W and Worthington, J and Tazi-Ahnini, R and Nestle, FO and Hayday, A and Hoffmann, P and Winkelmann, J and Wijmenga, C and Langford, C and Edkins, S and Andrews, R and Blackburn, H and Strange, A and Band, G and Pearson, RD and Vukcevic, D and Spencer, CC and Deloukas, P and Mrowietz, U and Schreiber, S and Weidinger, S and Koks, S and Kingo, K and Esko, T and Metspalu, A and Lim, HW and Voorhees, JJ and Weichenthal, M and Wichmann, HE and Chandran, V and Rosen, CF and Rahman, P and Gladman, DD and Griffiths, CE and Reis, A and Kere, J and Collaborative Association Study of Psoriasis (CASP), and Genetic Analysis of Psoriasis Consortium, and Psoriasis Association Genetics Extension, and Wellcome Trust Case Control Consortium 2, and Nair, RP and Franke, A and Barker, JN and Abecasis, GR and Elder, JT and Trembath, RC (2012) Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet , 44 (12) 1341 - 1348. 10.1038/ng.2467.

Tucci, A and Charlesworth, G and Sheerin, U-M and Plagnol, V and Wood, NW and Hardy, J (2012) Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. Neuroscience Letters , 518 (1) 19 - 22.

Tucci, A and Charlesworth, G and Sheerin, UM and Plagnol, V and Wood, NW and 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.

Wagnon, JL and Briese, M and Sun, W and Mahaffey, CL and Curk, T and Rot, G and Ule, J and Frankel, WN (2012) CELF4 regulates translation and local abundance of a vast set of mRNAs, including genes associated with regulation of synaptic function. PLoS Genet , 8 (11) , Article e1003067. 10.1371/journal.pgen.1003067. An open access publication. A version is also available from UCL Discovery.

Wang, Y and He, J and McVey, A and Pasnoor, M and Gallagher, P and Herbelin, L and Statland, J and Miller, A and Greensmith, L and Machado, P and Hanna, M and Barohn, R and Dimachkie, M (2012) Twelve-Month Change of IBMFRS in the Arimocolomol Inclusion Body Myositis Pilot Study. In: NEUROLOGY.

Wanngren, J and Ottervald, J and Parpal, S and Portelius, E and Strömberg, K and Borgegård, T and Klintenberg, R and Juréus, A and Blomqvist, J and Blennow, K and Zetterberg, H and Lundkvist, J and Rosqvist, S and Karlström, H (2012) Second generation γ-secretase modulators exhibit different modulation of Notch β and Aβ production. J Biol Chem , 287 (39) 32640 - 32650. 10.1074/jbc.M112.376541. An open access publication

Warren, JD and Rohrer, JD and Hardy, J (2012) Disintegrating brain networks: from syndromes to molecular nexopathies. Neuron , 73 (6) 1060 - 1062. 10.1016/j.neuron.2012.03.006. An open access publication

Woodward, C and Sweeney, MG and Pitceathly, RDS and Mudanohwo, EE and Hughes, D and Pittman, A and Houlden, H and Rahman, S and Hanna, MG (2012) Next Generation Sequencing as a potential diagnostic tool for mitochondrial DNA diseases. In: JOURNAL OF MEDICAL GENETICS. (pp. S116 - S116).

Wray, S and Self, M and NINDS Parkinson's Disease iPSC Consortium, and NINDS Huntington's Disease iPSC Consortium, and NINDS ALS iPSC Consortium, and Lewis, PA and Taanman, JW and Ryan, NS and Mahoney, CJ and Liang, Y and Devine, MJ and Sheerin, UM and Houlden, H and Morris, HR and Healy, D and Marti-Masso, JF and Preza, E and Barker, S and Sutherland, M and Corriveau, RA and D'Andrea, M and Schapira, AH and Uitti, RJ and Guttman, M and Opala, G and Jasinska-Myga, B and Puschmann, A and Nilsson, C and Espay, AJ and Slawek, J and Gutmann, L and Boeve, BF and Boylan, K and Stoessl, AJ and Ross, OA and Maragakis, NJ and Van Gerpen, J and Gerstenhaber, M and Gwinn, K and Dawson, TM and Isacson, O and Marder, KS and Clark, LN and Przedborski, SE and Finkbeiner, S and Rothstein, JD and Wszolek, ZK and Rossor, MN and Hardy, J (2012) Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLOS One , 7 (8) , Article e43099. 10.1371/journal.pone.0043099. An open access publication. A version is also available from UCL Discovery.

Xiromerisiou, G and Houlden, H and Sailer, A and Silveira-Moriyama, L and Hardy, J and Lees, AJ (2012) Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Mov Disord , 27 (10) 1323 - ?. 10.1002/mds.24924.

Xiromerisiou, G and Houlden, H and Scarmeas, N and Stamelou, M and Kara, E and Hardy, J and Lees, AJ and Korlipara, P and Limousin, P and Paudel, R and Hadjigeorgiou, GM and Bhatia, KP (2012) THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord , 27 (10) 1290 - 1294. 10.1002/mds.25146.

Xiromerisiou, G and Houlden, H and Scarmeas, N and Stamelou, M and Kara, E and Hardy, J and Lees, AJ and Korlipara, P and Limousin, P and Paudel, R and Hadjigeorgiou, GM and Bhatia, KP (2012) THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations. Movement Disorders , 27 (10) 1290 - 1294.

Zadeh, G and Salehi, F and An, S and Uff, C and Camp, S and Revesz, T and Holton, J and Thom, M and McEvoy, AW and Grieve, J and Kitchen, N and Brandner, S (2012) Diagnostic implications of histological analysis of neurosurgical aspirate in addition to routine resections. Neuropathology , 32 (1) 44 - 50. 10.1111/j.1440-1789.2011.01234.x.

Zadeh, G and Salehi, F and An, S and Uff, C and Camp, S and Revesz, T and Holton, J and Thom, M and Mcevoy, AW and Grieve, J and Kitchen, N and Brandner, S (2012) Diagnostic implications of histological analysis of neurosurgical aspirate in addition to routine resections. Neuropathology , 32 (1) 44 - 50.

Zetterberg, H and Hammarström, P (2012) Power tools for Alzheimer's disease - an electrochemical preamp for Aβ. J Neurochem 10.1111/j.1471-4159.2012.07730.x.

Zetterberg, H and Visser, PJ (2012) Fluid biomarkers for Alzheimer's disease: standardization and recent developments. Biomark Med , 6 (4) 363 - 364. 10.2217/bmm.12.40.

2011

Abeti, R and Abramov, AY and Duchen, MR (2011) beta-amyloid activates PARP causing astrocytic metabolic failure and neuronal death. BRAIN , 134 1658 - 1672. 10.1093/brain/awr104.

Abeti, R and Abramov, AY and Duchen, MR (2011) β-amyloid activates PARP causing astrocytic metabolic failure and neuronal death. Brain , 134 (6) 1658 - 1672.

Abramov, AY and Duchen, MR (2011) Measurements of threshold of mitochondrial permeability transition pore opening in intact and permeabilized cells by flash photolysis of caged calcium. Methods Mol Biol , 793 299 - 309. 10.1007/978-1-61779-328-8_19.

Abramov, AY and Gegg, M and Grunewald, A and Wood, NW and Klein, C and Schapira, AHV (2011) Bioenergetic Consequences of PINK1 Mutations in Parkinson Disease. PLOS ONE , 6 (10) , Article e25622. 10.1371/journal.pone.0025622. An open access publication. A version is also available from UCL Discovery.

Abramov, AY and Ionov, M and Pavlov, E and Duchen, MR (2011) Membrane cholesterol content plays a key role in the neurotoxicity of beta-amyloid: implications for Alzheimer's disease. AGING CELL , 10 (4) 595 - 603. 10.1111/j.1474-9726.2011.00685.x.

Ahmed, M and Miller, A and Hanna, MG and Greensmith, L (2011) Investigating the effects of pharmacological up-regulation of the heat shock response on protein degradation pathways in an in-vitro model of sporadic inclusion body myositis. In: NEUROMUSCULAR DISORDERS. (pp. S26 - S27). PERGAMON-ELSEVIER SCIENCE LTD

Ahmed, Z and Asi, YT and Lees, AJ and Revesz, T and Holton, JL (2011) Investigating the role of oligodendroglial precursor cells in multiple system atrophy and progressive supranuclear palsy. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 21 - 21). WILEY-BLACKWELL PUBLISHING, INC

Ahmed, Z and Doherty, K and Silveira-Moriyama, L and Bandopadhyay, R and Lashley, T and Mamais, A and Hondhamuni, G and Newcombe, J and O'Sullivan, SS and Wroe, S and De Silva, R and Holton, JL and Lees, AJ and Revesz, T (2011) GLOBULAR GLIAL TAUOPATHIES: AN EMERGING GROUP OF 4-REPEAT TAUOPATHIES PRESENTING WITH MOTOR NEURON DISEASE OR FRONTOTEMPORAL DEMENTIA. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 22 - 22). WILEY-BLACKWELL

Ahmed, Z and Doherty, K and Silveira-Moriyama, L and Bandopadhyay, R and Lashley, T and Newcombe, J and O'sullivan, SS and Wroe, S and De Silva, R and Holton, JL and Lees, AJ and Revesz, T (2011) Clinicopathological comparison of globular glial tauopathies presenting with motor neuron disease or frontotemporal dementia: An emerging group of 4-repeat tauopathies. In: MOVEMENT DISORDERS. (pp. S328 - S329).

Ahmed, Z and Doherty, KM and Silveira-Moriyama, L and Bandopadhyay, R and Lashley, T and Mamais, A and Hondhamuni, G and Wray, S and Newcombe, J and O'Sullivan, SS and Wroe, S and de Silva, R and Holton, JL and Lees, AJ and Revesz, T (2011) Globular glial tauopathies (GGT) presenting with motor neuron disease or frontotemporal dementia: an emerging group of 4-repeat tauopathies. ACTA NEUROPATHOL , 122 (4) 415 - 428. 10.1007/s00401-011-0857-4.

Allen, G.F.G. (2011) The neurochemical consequences of aromatic L-amino acid decarboxylase deficiency. Doctoral thesis, UCL (University College London). An open access version is available from UCL Discovery

Anaya, F and Lees, A and de Silva, R (2011) TAU GENE PROMOTER rs242557 AND ALLELE-SPECIFIC PROTEIN BINDING. TRANSLATIONAL NEUROSCIENCE , 2 (2) 176 - 205. 10.2478/s13380-011-0021-6.

Anzak, A and Tan, HL and Pogosyan, A and Djamshidian, A and Ling, HL and Lees, A and Brown, P (2011) Improvements in rate of development and magnitude of force with intense auditory stimuli in patients with Parkinson's disease. EUR J NEUROSCI , 34 (1) 124 - 132. 10.1111/j.1460-9568.2011.07735.x.

Ayala, YM and De Conti, L and Avendano-Vazquez, SE and Dhir, A and Romano, M and D'Ambrogio, A and Tollervey, J and Ule, J and Baralle, M and Buratti, E and Baralle, FE (2011) TDP-43 regulates its mRNA levels through a negative feedback loop. Embo J , 30 277 - 288. 10.1038/emboj.2010.310.

Aylward, EH and Nopoulos, PC and Ross, CA and Langbehn, DR and Pierson, RK and Mills, JA and Johnson, HJ and Magnotta, VA and Juhl, AR and Paulsen, JS and Coordina, PREDICT-HDI (2011) Longitudinal change in regional brain volumes in prodromal Huntington disease. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 82 (4) 405 - 410. 10.1136/jnnp.2010.208264.

Balazs, R and Vernon, J and Hardy, J (2011) Epigenetic mechanisms in Alzheimer's disease: progress but much to do. NEUROBIOL AGING , 32 (7) 1181 - 1187. 10.1016/j.neurobiolaging.2011.02.024.

Bandopadhyay, R and Mamais, A and Lashley, T and Griffiths, C and Goswami, N and Holton, JL and Revesz, T and Lees, AJ (2011) The role of 4E-BP1, a putative LRRK2 interactor in the pathology of IPD and in G2019S LRRK2 mutation cases. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 21 - 21). WILEY-BLACKWELL PUBLISHING, INC

Barohn, RJ and Wang, YX and Herbelin, LL and Bundy, B and Trivedi, J and Hanna, M and Rayan, DR and Statland, J and Venance, S and Ciafaloni, E and Salajegheh, M and Meola, G and Sansone, V and Zanolini, A and Griggs, R and CINCH Study Grp, (2011) Phase II Therapeutic Trial of Mexiletine in Non-Dystrophic Myotonia. In: NEUROLOGY. (pp. A645 - A645). LIPPINCOTT WILLIAMS & WILKINS

Becker, EBE and Fogel, BL and Rajakulendran, S and Dulneva, A and Hanna, MG and Perlman, SL and Geschwind, DH and Davies, KE (2011) Candidate Screening of the TRPC3 Gene in Cerebellar Ataxia. CEREBELLUM , 10 (2) 296 - 299. 10.1007/s12311-011-0253-6.

Bettencourt, C and Lima, M (2011) Machado-Joseph disease: From first descriptions to new perspectives. Orphanet Journal of Rare Diseases , 6 (1) An open access publication

Blazek, D and Kohoutek, J and Bartholomeeusen, K and Johansen, E and Hulinkova, P and Luo, Z and Cimermancic, P and Ule, J and Peterlin, BM (2011) The Cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes. Genes Dev , 25 2158 - 2172. 10.1101/gad.16962311.

Brady, S and Squier, W and Hanna, MG and Hilton-Jones, D and Sewry, C and Holton, JL (2011) Inclusion body myositis: a diagnostic challenge. In: NEUROMUSCULAR DISORDERS. (pp. S27 - S27). PERGAMON-ELSEVIER SCIENCE LTD

Brady, S and Squier, W and Hilton-Jones, D and Sewry, C and Holton, JL (2011) Inclusion body myositis: A diagnostic challenge. In: NEUROMUSCULAR DISORDERS. (pp. 732 - 733).

Bras, JM and Singleton, AB (2011) Exome sequencing in Parkinson's disease. CLIN GENET , 80 (2) 104 - 109. 10.1111/j.1399-0004.2011.01722.x.

Brelstaff, J and Lashley, T and Holton, JL and Lees, AJ and Rossor, MN and Bandopadhyay, R and Revesz, T (2011) Transportin1: a marker of FTLD-FUS. ACTA NEUROPATHOL , 122 (5) 591 - 600. 10.1007/s00401-011-0863-6.

Brooks, JA and Houlden, H and Melchers, A and Islam, AJ and Ding, J and Li, A and Paudel, R and Revesz, T and Holton, JL and Wood, N and Lees, A and Singleton, AB and Scholz, SW (2011) Mutational analysis of parkin and PINK1 in multiple system atrophy. Neurobiology of Aging , 32 (3) 548.e5 - 548.e7.

Brooks, JA and Houlden, H and Melchers, A and Islam, AJ and Ding, JH and Li, A and Paudel, R and Revesz, T and Holton, JL and Wood, N and Lees, A and Singleton, AB and Scholz, SW (2011) Mutational analysis of parkin and PINK1 in multiple system atrophy. NEUROBIOL AGING , 32 (3) , Article 548.e5. 10.1016/j.neurobiolaging.2009.11.020.

Burge, J and Horga, A and Griggs, RC and Hanna, MG and HYP HOP Investigators, (2011) Double-blind, placebo-controlled, parallel group, phase Ill study comparing dichlorphenamide vs. placebo for the treatment of periodic paralysis (HYP HOP trial). In: NEUROMUSCULAR DISORDERS. (pp. S13 - S13). PERGAMON-ELSEVIER SCIENCE LTD

Camargos, ST and Gurgel-Giannetti, J and Lees, A and Hardy, J and Singleton, A and Cardoso, F (2011) Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 82 (9) 1059 - +. 10.1136/jnnp.2009.200808.

Cardoso, F and Hodges, J and Evans, AH and Revesz, T and Williams, DR (2011) Postural Instability, Frontotemporal Dementia, and Ophthalmoplegia: Clinicopathological Case. MOVEMENT DISORD , 26 (10) 1808 - 1813. 10.1002/mds.23359.

Cardoso, F and Hodges, J and Evans, AH and Revesz, T and Williams, DR (2011) Postural instability, frontotemporal dementia, and ophthalmoplegia: Clinicopathological case. Movement Disorders

Carlozzi, NE and Stout, JC and Mills, JA and Duff, K and Beglinger, LJ and Aylward, EH and Whitlock, KB and Solomon, AC and Queller, S and Langbehn, DR and Johnson, SA and Paulsen, JS and Huntingto, PREDICT-HDI (2011) Estimating Premorbid IQ in the Prodromal Phase of a Neurodegenerative Disease. CLINICAL NEUROPSYCHOLOGIST , 25 (5) 757 - 777. 10.1080/13854046.2011.577811.

Carvajal-Carmona, LG and Cazier, J-B and Jones, AM and Howarth, K and Broderick, P and Pittman, A and Dobbins, S and Tenesa, A and Farrington, S and Prendergast, J and Theodoratou, E and Barnetson, R and Conti, D and Newcomb, P and Hopper, JL and Jenkins, MA and Gallinger, S and Duggan, DJ and Campbell, H and Kerr, D and Casey, G and Houlston, R and Dunlop, M and Tomlinson, I (2011) Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes. HUMAN MOLECULAR GENETICS , 20 (14) 2879 - 2888. 10.1093/hmg/ddr190.

Carvalho, OP and Thornton, GK and Hertecant, J and Houlden, H and Nicholas, AK and Cox, JJ and Rielly, M and Al-Gazali, L and Woods, CG (2011) A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. J MED GENET , 48 (2) 131 - 135. 10.1136/jmg.2010.081455.

Casper, CJ and Warner, TT and Taanman, JW and Nathwani, AC (2011) Generation of iPS-derived dopaminergic neurons as an in-vitro model of Rapid-Onset Dystonia Parkinsonism. HUMAN GENE THERAPY , 22 (10) A42 - A43.

Chen, CWR and Kachramanoglou, C and Revesz, T and Choi, D (2011) Rosai-Dorfman disease presenting as a thoracic intradural extramedullary spinal tumor but without extraspinal manifestations. Acta Neurochirurgica 1 - 2.

Chibnik, LB and Shulman, JM and Leurgans, SE and Schneider, JA and Wilson, RS and Tran, D and Aubin, C and Buchman, AS and Heward, CB and Myers, AJ and Hardy, JA and Huentelman, MJ and Corneveaux, JJ and Reiman, EM and Evans, DA and Bennett, DA and De Jager, PL (2011) CR1 Is Associated with Amyloid Plaque Burden and Age-Related Cognitive Decline. ANN NEUROL , 69 (3) 560 - 569. 10.1002/ana.22277.

Cleeter, M and Houlden, H and Simons, P and Al-Shawi, R and Stevanin, G and Durr, A and Hsuan, J and Warner, TT (2011) Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia. AMYOTROPH LATERAL SC , 12 (2) 148 - 149. 10.3109/17482968.2010.543689.

Compta, Y and Parkkinen, L and O'Sullivan, SS and Vandrovcova, J and Holton, JL and Collins, C and Lashley, T and Kallis, C and Williams, DR and de Silva, R and Lees, AJ and Revesz, T (2011) Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important? BRAIN , 134 1493 - 1505. 10.1093/brain/awr031.

Crehan, H and Pocock, JM and Hardy, J (2011) THE ROLE OF MICROGLIAL COMPLEMENT RECEPTOR 1 (CR1) IN ALZHEIMER'S DISEASE. In: GLIA. (pp. S135 - S135). WILEY-BLACKWELL

Deas, E and Plun-Favreau, H and Gandhi, S and Desmond, H and Kjaer, S and Loh, SHY and Renton, AEM and Harvey, RJ and Whitworth, AJ and Martins, LM and Abramov, AY and Wood, NW (2011) PINK1 cleavage at position A103 by the mitochondrial protease PARL. Human Molecular Genetics , 20 (5) pp. 867-879. 10.1093/hmg/ddq526. An open access version is available from UCL Discovery

Deas, E and Wood, NW and 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.

Deriziotis, P and André, R and Smith, DM and Goold, R and Kinghorn, KJ and Kristiansen, M and Nathan, JA and Rosenzweig, R and Krutauz, D and Glickman, MH and Collinge, J and Goldberg, AL and Tabrizi, SJ (2011) Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry. EMBO Journal

Deriziotis, P and Andre, R and Smith, DM and Goold, R and Kinghorn, KJ and Kristiansen, M and Nathan, JA and Rosenzweig, R and Krutauz, D and Glickman, MH and Collinge, J and Goldberg, AL and Tabrizi, SJ (2011) Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry. EMBO J , 30 (15) 3065 - 3077. 10.1038/emboj.2011.224.

Devine, M and Bentley, P and Jones, B and Jenkins, H and Malhotra, P (2011) PERSISTENT PSYCHOSIS IN THREE SUSCEPTIBLE INDIVIDUALS WITH RIGHT INFERIOR FRONTAL LOBE STROKE. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 420 - 420). WILEY-BLACKWELL

Devine, MJ and Gwinn, K and Singleton, A and Hardy, J (2011) Parkinson's Disease and alpha-Synuclein Expression. MOVEMENT DISORD , 26 (12) 2160 - 2168. 10.1002/mds.23948.

Devine, MJ and Kaganovich, A and Ryten, M and Mamais, A and Trabzuni, D and Manzoni, C and McGoldrick, P and Chan, D and Dillman, A and Zerle, J and Horan, S and Taanman, JW and Hardy, J and Marti-Masso, JF and Healy, D and Schapira, AH and Wolozin, B and Bandopadhyay, R and Cookson, MR and van der Brug, MP and Lewis, PA (2011) Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLOS ONE , 6 (7) , Article e22489. 10.1371/journal.pone.0022489. An open access publication. A version is also available from UCL Discovery.

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

Devine, MJ and Ryten, M and Vodicka, P and Thomson, AJ and Burdon, T and Houlden, H and Cavaleri, F and Nagano, M and Drummond, NJ and Taanman, JW and Schapira, AH and Gwinn, K and Hardy, J and Lewis, PA and Kunath, T (2011) Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus. NAT COMMUN , 2 , Article 440. 10.1038/ncomms1453. An open access publication

Dihanich, S and Manzoni, C (2011) LRRK2: A Problem Lurking in Vesicle Trafficking? J NEUROSCI , 31 (27) 9787 - 9788. 10.1523/JNEUROSCI.1976-11.2011. An open access publication

Djamshidian, A and Averbeck, BB and Lees, AJ and O'Sullivan, SS (2011) Clinical aspects of impulsive compulsive behaviours in Parkinson's disease. J Neurol Sci , 310 (1-2) 183 - 188. 10.1016/j.jns.2011.07.031.

Djamshidian, A and Cardoso, F and Grosset, D and Bowden-Jones, H and Lees, AJ (2011) Pathological Gambling in Parkinson's Disease-A Review of the Literature. MOVEMENT DISORD , 26 (11) 1976 - 1984. 10.1002/mds.23821.

Djamshidian, A and O'Sullivan, SS and Doherty, K and Lees, AJ and Averbeck, BB (2011) Altruistic punishment in patients with Parkinson's disease with and without impulsive behaviour. NEUROPSYCHOLOGIA , 49 (1) 103 - 107. 10.1016/j.neuropsychologia.2010.10.012.

Djamshidian, A and O'Sullivan, SS and Lees, A and Averbeck, BB (2011) Stroop test performance in impulsive and non impulsive patients with Parkinson's disease. PARKINSONISM RELAT D , 17 (3) 212 - 214. 10.1016/j.parkreldis.2010.12.014.

Djamshidian, A and O'Sullivan, SS and Papadopoulos, A and Bassett, P and Shaw, K and Averbeck, BB and Lees, A (2011) Salivary cortisol levels in Parkinson's disease and its correlation to risk behaviour. J NEUROL NEUROSUR PS , 82 (10) 1107 - 1111. 10.1136/jnnp.2011.245746. An open access publication

Djamshidian, A and O'sullivan, SS and Papadopoulos, A and Bassett, P and Shaw, K and Averbeck, BB and Lees, AJ (2011) Salivary cortisol levels in Parkinson's disease and its correlation to risk behaviour. In: MOVEMENT DISORDERS. (pp. S101 - S101).

Djamshidian, A and O'Sullivan, SS and Wittmann, BC and Lees, AJ and Averbeck, BB (2011) Novelty seeking behaviour in Parkinson's disease. NEUROPSYCHOLOGIA , 49 (9) 2483 - 2488. 10.1016/j.neuropsychologia.2011.04.026.

Doherty, KM and van de Warrenburg, BP and Peralta, MC and Silveira-Moriyama, L and Azulay, JP and Gershanik, OS and Bloem, BR (2011) Postural deformities in Parkinson's disease. LANCET NEUROL , 10 (6) 538 - 549. 10.1016/S1474-4422(11)70067-9.

Domijan, AM and Abramov, AY (2011) Fumonisin B-1 inhibits mitochondrial respiration and deregulates calcium homeostasis-Implication to mechanism of cell toxicity. INT J BIOCHEM CELL B , 43 (6) 897 - 904. 10.1016/j.biocel.2011.03.003.

Duchen, MR and Heath, K and Baruch, NB and Hanna, MG and Muntoni, F (2011) Dysregulation of calcium and mitochondrial function as potential therapeutic targets in muscle disease. In: NEUROMUSCULAR DISORDERS. (pp. S1 - S2). PERGAMON-ELSEVIER SCIENCE LTD

Dunn, L.M. (2011) Characterisation of leucine-rich repeat kinase-2 regulation and kinase function. Doctoral thesis, UCL (University College London). An open access version is available from UCL Discovery

Durran, S and Matthews, E and Rayan, DLR and Sud, R and Polke, J and Haworth, A and Holton, JL and Sweeney, MG and Hanna, MG (2011) Genetic heterogeneity and mechanisms of phenotypic variability in human skeletal muscle channelopathies - a new S4 mutation not associated with HypoPP. In: NEUROMUSCULAR DISORDERS. (pp. S13 - S13). PERGAMON-ELSEVIER SCIENCE LTD

Evans, DM and Spencer, CCA and Pointon, JJ and Su, Z and Harvey, D and Kochan, G and Opperman, U and Dilthey, A and Pirinen, M and Stone, MA and Appleton, L and Moutsianis, L and Leslie, S and Wordsworth, T and Kenna, TJ and Karaderi, T and Thomas, GP and Ward, MM and Weisman, MH and Farrar, C and Bradbury, LA and Danoy, P and Inman, RD and Maksymowych, W and Gladman, D and Rahman, P and Morgan, A and Marzo-Ortega, H and Bowness, P and Gaffney, K and Gaston, JSH and Smith, M and Bruges-Armas, J and Couto, AR and Sorrentino, R and Paladini, F and Ferreira, MA and Xu, HJ and Liu, Y and Jiang, L and Lopez-Larrea, C and Diaz-Pena, R and Lopez-Vazquez, A and Zayats, T and Band, G and Bellenguez, C and Blackburn, H and Blackwell, JM and Bramon, E and Bumpstead, SJ and Casas, JP and Corvin, A and Craddock, N and Deloukas, P and Dronov, S and Duncanson, A and Edkins, S and Freeman, C and Gillman, M and Gray, E and Gwilliam, R and Hammond, N and Hunt, SE and Jankowski, J and Jayakumar, A and Langford, C and Liddle, J and Markus, HS and Mathew, CG and McCann, OT and McCarthy, MI and Palmer, CNA and Peltonen, L and Plomin, R and Potter, SC and Rautanen, A and Ravindrarajah, R and Ricketts, M and Samani, N and Sawcer, SJ and Strange, A and Trembath, RC and Viswanathan, AC and Waller, M and Weston, P and Whittaker, P and Widaa, S and Wood, NW and McVean, G and Reveille, JD and Wordsworth, BP and Brown, MA and Donnelly, P and Australo-Anglo-Amer Spondyloarthri, and Wellcome Trust Case Control Consor, and Spondyloarthrit Res Consortium Can, (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.

Fabbrini, G and Merello, M and Evans, AH and Lees, AJ and Holton, J and Williams, DR (2011) Progressive Parkinsonism, Oculomotor Abnormalities and Autonomic Dysfunction: Clinicopathological Case. MOVEMENT DISORD , 26 (3) 424 - 429. 10.1002/mds.23302.

Farfel-Becker, T and Vitner, EB and Pressey, SNR and Eilam, R and Cooper, JD and Futerman, AH (2011) Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease. HUM MOL GENET , 20 (7) 1375 - 1386. 10.1093/hmg/ddr019.

Fawcett, K and Murphy, SM and Polke, J and Reilly, MM and Houlden, H (2011) TRPV4 mutations and functional characterisation in a cohort of patients with hereditary neuropathy. In: NEUROMUSCULAR DISORDERS. (pp. S16 - S16). PERGAMON-ELSEVIER SCIENCE LTD

Fawcett, K and Murphy, SM and Reilly, MM and Houlden, H (2011) TRPV4 MUTATIONS AND FUNCTIONAL CHARACTERISATION IN A COHORT OF PATIENTS WITH HEREDITARY NEUROPATHY. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S36 - S36). WILEY-BLACKWELL

Ferrari, R and Hardy, J and Momeni, P (2011) Frontotemporal Dementia: From Mendelian Genetics Towards Genome Wide Association Studies. JOURNAL OF MOLECULAR NEUROSCIENCE , 45 (3) 500 - 515. 10.1007/s12031-011-9635-y.

Fletcher, E.V. (2011) Alternative splicing in SCN1A: biophysical consequences for NaV1.1 channels. Doctoral thesis, UCL (University College London). An open access version is available from UCL Discovery

Forrest, KML and Al-Sarraj, S and Sewry, C and Buk, S and Tan, SV and Pitt, M and Durward, A and McDougall, M and Irving, M and Hanna, MG and Matthews, E and Sarkozyi, A and Hudson, J and Barresi, R and Bushby, K and Jungbluth, H and Wraige, E (2011) Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. NEUROMUSCULAR DISORD , 21 (1) 37 - 40. 10.1016/j.nmd.2010.11.003.

Fratter, C and Raman, P and Alston, C and Blakely, EL and Craig, K and Smith, C and Evans, J and Seller, A and Czermin, B and Hanna, MG and Poulton, J and Brierley, C and Staunton, TG and Turnpenny, PD and Schaefer, AM and Chinnery, PF and Horvath, R and Turnbull, DM and Gorman, GS and Taylor, RW (2011) Dominant and recessive RRM2B mutations cause familial PEO and multiple mtDNA deletions in muscle. In: NEUROMUSCULAR DISORDERS. (pp. S23 - S23). PERGAMON-ELSEVIER SCIENCE LTD

Fratter, C and Raman, P and Alston, CL and Blakely, EL and Craig, K and Smith, C and Evans, J and Seller, A and Czermin, B and Hanna, MG and Poulton, J and Brierley, C and Staunton, TG and Turnpenny, PD and Schaefer, AM and Chinnery, PF and Horvath, R and Turnbull, DM and Gorman, GS and Taylor, RW (2011) RRM2B MUTATIONS ARE FREQUENT IN FAMILIAL PEO WITH MULTIPLE mtDNA DELETIONS. NEUROLOGY , 76 (23) 2032 - 2034. 10.1212/WNL.0b013e31821e558b.

Fratter, C and Raman, P and Alston, CL and Blakely, EL and Craig, K and Smith, C and Evans, J and Seller, A and Czermin, B and Pitceathly, RDS and Hanna, MG and Poulton, J and Brierley, C and Staunton, TG and Tumpenny, PD and Schaefer, AM and Chinnery, PF and Horvath, R and Tumbull, DM and Gorman, GS (2011) Dominant and recessive RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. In: JOURNAL OF MEDICAL GENETICS. (pp. S69 - S69). B M J PUBLISHING GROUP

Gallagher, DA and Parkkinen, L and O'Sullivan, SS and Spratt, A and Shah, A and Davey, CC and Bremner, FD and Revesz, T and Williams, DR and Lees, AJ and Schrag, A (2011) Testing an aetiological model of visual hallucinations in Parkinson's disease. BRAIN , 134 3299 - 3309. 10.1093/brain/awr225.

Gasser, T and Hardy, J and Mizuno, Y (2011) Milestones in PD Genetics. MOVEMENT DISORD , 26 (6) 1042 - 1048. 10.1002/mds.23637.

Giaccone, G and Arzberger, T and Alafuzoff, I and Al-Sarraj, S and Budka, H and Duyckaerts, C and Falkai, P and Ferrer, I and Ironside, JW and Kovacs, GG and Meyronet, D and Parchi, P and Patsouris, E and Revesz, T and Riederer, P and Rozemuller, A and Schmitt, A and Winblad, B and Kretzschmar, H and Consortium, BE (2011) New lexicon and criteria for the diagnosis of Alzheimer's disease. LANCET NEUROLOGY , 10 (4) 298 - 299.

Granata, A and Koo, SJ and Haucke, V and Schiavo, G and Warner, TT (2011) CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process. EMBO J , 30 (1) 181 - 193. 10.1038/emboj.2010.285. An open access publication

Gray, A and Malik, B and Montague, K and Dick, J and Hanna, MG and Greensmith, L (2011) Investigating pathophysiology and therapeutic strategies in a mouse model of spinal and bulbar muscular atrophy (SBMA). In: NEUROMUSCULAR DISORDERS. (pp. S10 - S10). PERGAMON-ELSEVIER SCIENCE LTD

Guergueltcheva, V and Müller, JS and Dusl, M and Senderek, J and Oldfors, A and Lindbergh, C and Maxwell, S and Colomer, J and Mallebrera, CJ and Nascimento, A and Vilchez, JJ and Muelas, N and Kirschner, J and Nafissi, S and Kariminejad, A and Nilipour, Y and Bozorgmehr, B and Najmabadi, H and Rodolico, C and Sieb, JP and Schlotter, B and Schoser, B and Herrmann, R and Voit, T and Steinlein, OK and Najafi, A and Urtizberea, A and Soler, DM and Muntoni, F and Hanna, MG and Chaouch, A and Straub, V and Bushby, K and Palace, J and Beeson, D and Abicht, A and Lochmüller, H (2011) Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol 10.1007/s00415-011-6262-z.

Guerreiro, RJ and Hardy, J (2011) Alzheimer's disease genetics: lessons to improve disease modelling. BIOCHEM SOC T , 39 910 - 916. 10.1042/BST0390910.

Gwinn, K and Devine, MJ and Jin, LW and Johnson, J and Bird, T and Muenter, M and Waters, C and Adler, CH and Caselli, R and Houlden, H and Lopez, G and Singleton, A and Hardy, J and Singleton, A (2011) Clinical Features, with Video Documentation, of the Original Familial Lewy Body Parkinsonism Caused By alpha-Synuclein Triplication (Iowa Kindred). MOVEMENT DISORD , 26 (11) 2134 - 2136. 10.1002/mds.23776.

Halliday, GM and Holton, JL and Revesz, T and Dickson, DW (2011) Neuropathology underlying clinical variability in patients with synucleinopathies. ACTA NEUROPATHOL , 122 (2) 187 - 204. 10.1007/s00401-011-0852-9.

Hardy, J (2011) Read all about it! NEW SCI , 211 (2822) 22 - 23.

Hardy, J and Guerreiro, R (2011) A new way APP mismetabolism can lead to Alzheimer's disease. EMBO MOL MED , 3 (5) 247 - 248. 10.1002/emmm.201100139. An open access publication

Hardy, J and Guerreiro, R and Lovestone, S (2011) Clusterin as an Alzheimer biomarker. Arch Neurol , 68 (11) 1459 - 1460. 10.1001/archneurol.2011.1000.

Hardy, J and Guerreiro, R and Wray, S and Ferrari, R and Momeni, P (2011) The Genetics of Alzheimer's Disease and Other Tauopathies. J ALZHEIMERS DIS , 23 S33 - S39.

Hardy, J and Low, NC (2011) Genes and Environment in Psychiatry Winner's Curse or Cure? ARCH GEN PSYCHIAT , 68 (5) 455 - 456.

Hardy, J and Thompson, AJ (2011) Dissecting the Familial Risk of Multiple Sclerosis. ANN NEUROL , 69 (1) 11 - 12. 10.1002/ana.22353.

Haworth, A and Bertram, L and Carrera, P and Elson, JL and Braastad, CD and Cox, DW and Cruts, M and den Dunnen, JT and Farrer, MJ and Fink, JK and Hamed, SA and Houlden, H and Johnson, DR and Nuytemans, K and Palau, F and Rayan, DLR and Robinson, PN and Salas, A and Schule, B and Sweeney, MG and Woods, MO and Amigo, J and Cotton, RGH and Sobrido, MJ (2011) Call for participation in the neurogenetics consortium within the Human Variome Project. NEUROGENETICS , 12 (3) 169 - 173. 10.1007/s10048-011-0287-4.

Hersheson, J and Ali, FR and Little, S and Leather, A and Finlayson, AE (2011) SUPPORTING POSTGRADUATE MEDICAL EDUCATION IN AFRICA: REAL-TIME INTERACTIVE NEUROLOGY TEACHING OF TRAINEE PHYSICIANS USING A DEDICATED SOCIAL-NETWORKING PORTAL. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 448 - 448). WILEY-BLACKWELL

Hoglinger, GU and Melhem, NM and Dickson, DW and Sleiman, PMA and Wang, LS and Klei, L and Rademakers, R and de Silva, R and Litvan, I and Riley, DE and van Swieten, JC and Heutink, P and Wszolek, ZK and Uitti, RJ and Vandrovcova, J and Hurtig, HI and Gross, RG and Maetzler, W and Goldwurm, S and Tolosa, E and Borroni, B and Pastor, P and Cantwell, LB and Han, MR and Dillman, A and van der Brug, MP and Gibbs, JR and Cookson, MR and Hernandez, DG and Singleton, AB and Farrer, MJ and Yu, CE and Golbe, LI and Revesz, T and Hardy, J and Lees, AJ and Devlin, B and Hakonarson, H and Muller, U and Schellenberg, GD and PSP Genetics Study Grp, (2011) Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. NAT GENET , 43 (7) 699 - U125. 10.1038/ng.859.

Hollingworth, P and Harold, D and Sims, R and Gerrish, A and Lambert, JC and Carrasquillo, MM and Abraham, R and Hamshere, ML and Pahwa, JS and Moskvina, V and Dowzell, K and Jones, N and Stretton, A and Thomas, C and Richards, A and Ivanov, D and Widdowson, C and Chapman, J and Lovestone, S and Powell, J and Proitsi, P and Lupton, MK and Brayne, C and Rubinsztein, DC and Gill, M and Lawlor, B and Lynch, A and Brown, KS and Passmore, PA and Craig, D and McGuinness, B and Todd, S and Holmes, C and Mann, D and Smith, AD and Beaumont, H and Warden, D and Wilcock, G and Love, S and Kehoe, PG and Hooper, NM and Vardy, ERLC and Hardy, J and Mead, S and Fox, NC and Rossor, M and Collinge, J and Maier, W and Jessen, F and Ruther, E and Schurmann, B and Heun, R and Kolsch, H and van den Bussche, H and Heuser, I and Kornhuber, J and Wiltfang, J and Dichgans, M and Frolich, L and Hampel, H and Gallacher, J and Hull, M and Rujescu, D and Giegling, I and Goate, AM and Kauwe, JSK and Cruchaga, C and Nowotny, P and Morris, JC and Mayo, K and Sleegers, K and Bettens, K and Engelborghs, S and De Deyn, PP and Van Broeckhoven, C and Livingston, G and Bass, NJ and Gurling, H and McQuillin, A and Gwilliam, R and Deloukas, P and Al-Chalabi, A and Shaw, CE and Tsolaki, M and Singleton, AB and Guerreiro, R and Muhleisen, TW and Nothen, MM and Moebus, S and Jockel, KH and Klopp, N and Wichmann, HE and Pankratz, VS and Sando, SB and Aasly, JO and Barcikowska, M and Wszolek, ZK and Dickson, DW and Graff-Radford, NR and Petersen, RC and van Duijn, CM and Breteler, MMB and Ikram, MA and DeStefano, AL and Fitzpatrick, AL and Lopez, O and Launer, LJ and Seshadri, S and Berr, C and Campion, D and Epelbaum, J and Dartigues, JF and Tzourio, C and Alperovitch, A and Lathrop, M and Feulner, TM and Friedrich, P and Riehle, C and Krawczak, M and Schreiber, S and Mayhaus, M and Nicolhaus, S and Wagenpfeil, S and Steinberg, S and Stefansson, H and Stefansson, K and Snaedal, J and Bjornsson, S and Jonsson, PV and Chouraki, V and Genier-Boley, B and Hiltunen, M and Soininen, H and Combarros, O and Zelenika, D and Delepine, M and Bullido, MJ and Pasquier, F and Mateo, I and Frank-Garcia, A and Porcellini, E and Hanon, O and Coto, E and Alvarez, V and Bosco, P and Siciliano, G and Mancuso, M and Panza, F and Solfrizzi, V and Nacmias, B and Sorbi, S and Bossu, P and Piccardi, P and Arosio, B and Annoni, G and Seripa, D and Pilotto, A and Scarpini, E and Galimberti, D and Brice, A and Hannequin, D and Licastro, F and Jones, L and Holmans, PA and Jonsson, T and Riemenschneider, M and Morgan, K and Younkin, SG and Owen, MJ and O'Donovan, M and Amouyel, P and Williams, J and Alzheimer's Dis Neuroimaging, and CHARGE Consortium, and EADI1 Consortium, (2011) Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. NAT GENET , 43 (5) 429 - +. 10.1038/ng.803.

Holmes, MV and Newcombe, P and Hubacek, JA and Sofat, R and Ricketts, SL and Cooper, J and Breteler, MMB and Bautista, LE and Sharma, P and Whittaker, JC and Smeeth, L and Fowkes, FGR and Algra, A and Shmeleva, V and Szolnoki, Z and Roest, M and Linnebank, M and Zacho, J and Nalls, MA and Singleton, AB and Ferrucci, L and Hardy, J and Worrall, BB and Rich, SS and Matarin, M and Norman, PE and Flicker, L and Almeida, OP and van Bockxmeer, FM and Shimokata, H and Khaw, KT and Wareham, NJ and Bobak, M and Sterne, JAC and Smith, GD and Talmud, PJ and van Duijn, C and Humphries, SE and Price, JF and Ebrahim, S and Lawlor, DA and Hankey, GJ and Meschia, JF and Sandhu, MS and Hingorani, AD and Casas, JP (2011) Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials. LANCET , 378 (9791) 584 - 594. 10.1016/S0140-6736(11)60872-6. An open access publication

Hutton, EJ and Carty, L and Laurá, M and Houlden, H and Lunn, MP and Brandner, S and Mirsky, R and Jessen, K and Reilly, MM (2011) c-Jun expression in human neuropathies: a pilot study. J Peripher Nerv Syst , 16 (4) 295 - 303. 10.1111/j.1529-8027.2011.00360.x.

Innes, A and Kalmar, B and Houlden, H and Reilly, MM and Greensmith, L (2011) Characterisation of novel mutations within heat shock protein 27 causing motor axonopathies. In: NEUROMUSCULAR DISORDERS. (pp. S3 - S3). PERGAMON-ELSEVIER SCIENCE LTD

Ionov, M and Burchell, V and Klajnert, B and Bryszewska, M and Abramov, AY (2011) MECHANISM OF NEUROPROTECTION OF MELATONIN AGAINST BETA-AMYLOID NEUROTOXICITY. NEUROSCIENCE , 180 229 - 237. 10.1016/j.neuroscience.2011.02.045.

Jacobi, H and Bauer, P and Giunti, P and Labrum, R and Sweeney, MG and Charles, P and Duerr, A and Marelli, C and Globas, C and Linnemann, C and Schoels, L and Rakowicz, M and Rola, R and Zdzienicka, E and Schmitz-Huebsch, T and Facellu, R and Mariotti, C and Tomasello, C and Baliko, L and Melegh, B and Filla, A and Rinaldi, C and van de Warrenburg, BP and Verstappen, CCP and Szymanski, S and Berciano, J and Infante, J and Timmann, D and Boesch, S and Hering, S and Depondt, C and Pandolfo, M and Kang, J-S and Ratzka, S and Schulz, J and du Montcel, ST and Klockgether, T (2011) The natural history of spinocerebellar ataxia type 1, 2, 3 and 6: A 2-year follow-up study. In: MOVEMENT DISORDERS. (pp. S5 - S5).

Jacobi, H and Bauer, P and Giunti, P and Labrum, R and Sweeney, MG and Charles, P and Durr, A and Marelli, C and Globas, C and Linnemann, C and Schols, L and Rakowicz, M and Rola, R and Zdzienicka, E and Schmitz-Hubsch, T and Fancellu, R and Mariotti, C and Tomasello, C and Baliko, L and Melegh, B and Filla, A and Rinaldi, C and van de Warrenburg, BP and Verstappen, CCP and Szymanski, S and Berciano, J and Infante, J and Timmann, D and Boesch, S and Hering, S and Depondt, C and Pandolfo, M and Kang, JS and Ratzka, S and Schulz, J and du Montcel, ST and Klockgether, T (2011) The natural history of spinocerebellar ataxia type 1, 2, 3, and 6 A 2-year follow-up study. NEUROLOGY , 77 (11) 1035 - 1041.

Janiczek, RL and Gambarota, G and Sinclair, CDJ and Yousry, TA and Thornton, JS and Golay, X and Newbould, RD (2011) Simultaneous T-2 and Lipid Quantitation Using IDEAL-CPMG. MAGN RESON MED , 66 (5) 1293 - 1302. 10.1002/mrm.22916.

Jones, L and Holmans, PA and Hamshere, ML and Harold, D and Moskvina, V and Ivanov, D and Pocklington, A and Abraham, R and Hollingworth, P and Sims, R and Gerrish, A and Pahwa, JS and Jones, N and Stretton, A and Morgan, AR and Lovestone, S and Powell, J and Proitsi, P and Lupton, MK and Brayne, C and Rubinsztein, DC and Gill, M and Lawlor, B and Lynch, A and Morgan, K and Brown, KS and Passmore, PA and Craig, D and McGuinness, B and Todd, S and Holmes, C and Mann, D and Smith, AD and Love, S and Kehoe, PG and Mead, S and Fox, N and Rossor, M and Collinge, J and Maier, W and Jessen, F and Schürmann, B and van den Bussche, H and Heuser, I and Peters, O and Kornhuber, J and Wiltfang, J and Dichgans, M and Frölich, L and Hampel, H and Hüll, M and Rujescu, D and Goate, AM and Kauwe, JS and Cruchaga, C and Nowotny, P and Morris, JC and Mayo, K and Livingston, G and Bass, NJ and Gurling, H and McQuillin, A and Gwilliam, R and Deloukas, P and Al-Chalabi, A and Shaw, CE and Singleton, AB and Guerreiro, R and Mühleisen, TW and Nöthen, MM and Moebus, S and Jöckel, KH and Klopp, N and Wichmann, HE and Rüther, E and Carrasquillo, MM and Pankratz, VS and Younkin, SG and Hardy, J and O'Donovan, MC and Owen, MJ and Williams, J (2011) Correction: genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One , 6 (2) , Article e13950. 10.1371/journal.pone.0013950. An open access publication. A version is also available from UCL Discovery.

Kalmar, B and Innes, A and Rossor, AM and Houlden, H and Schiavo, G and Reilly, MM and Greensmith, L (2011) ASSESSMENT OF FUNCTIONAL IMPAIRMENTS IN CELLULAR MODELS OF MUTANT HSPB1 INDUCED NEUROPATHIES. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S62 - S63). WILEY-BLACKWELL

König, J and Zarnack, K and Luscombe, NM and Ule, J (2011) Protein-RNA interactions: new genomic technologies and perspectives. Nat Rev Genet , 13 (2) 77 - 83. 10.1038/nrg3141.

Kinghorn, KJ (2011) Pathological looping in the synucleinopathies: Investigating the link between Parkinson's disease and Gaucher disease. DMM Disease Models and Mechanisms , 4 (6) 713 - 715. An open access publication

Koepke, J and Kaffarnik, F and Haag, C and Zarnack, K and Luscombe, NM and König, J and Ule, J and Kellner, R and Begerow, D and Feldbrügge, M (2011) The RNA-binding protein Rrm4 is essential for efficient secretion of endochitinase Cts1. Mol Cell Proteomics , 10 (12) M111.011213 - ?. 10.1074/mcp.M111.011213.

Konig, J and Zarnack, K and Rot, G and Curk, T and Kayikci, M and Zupan, B and Turner, DJ and Luscombe, NM and Ule, J (2011) iCLIP--transcriptome-wide mapping of protein-RNA interactions with individual nucleotide resolution. J Vis Exp (50) 10.3791/2638.

Kovac, S and Domijan, A and Walker, MC and Abramov, AY (2011) PROLONGED SEIZURE ACTIVITY IMPAIRS MITOCHONDRIAL BIOENERGETICS AND INDUCES CELL DEATH. In: EPILEPSIA. (pp. 85 - 85). WILEY-BLACKWELL

Kovac, S and Domijan, AM and Walker, MC and Abramov, AY (2011) ROLE OF MITOCHONDRIAL FUNCTION IN SEIZURE-INDUCED NEURONAL CELL DEATH. In: EPILEPSIA. (pp. 45 - 45). WILEY-BLACKWELL

Kruer, MC and Steiner, RD and Merkens, M and Blasco, PA and Phelps, R and Fan, GA and Houlden, H and Paisan-Ruiz, C (2011) Phenotypic Characterization and Autozygosity Mapping of a Novel Locus for Complicated Hereditary Spastic Paraplegia. In: NEUROLOGY. (pp. A89 - A89). LIPPINCOTT WILLIAMS & WILKINS

Kuo, LT and Tsai, SY and Groves, MJ and An, SF and Scaravilli, F (2011) Gene Expression Profile in Rat Dorsal Root Ganglion Following Sciatic Nerve Injury and Systemic Neurotrophin-3 Administration. J MOL NEUROSCI , 43 (3) 503 - 515. 10.1007/s12031-010-9473-3.

Lashley, T and Holton, JL and Revesz, T (2011) TDP-43 pathology may occur in the BRI2 gene-related dementias. ACTA NEUROPATHOL , 121 (4) 559 - 560. 10.1007/s00401-011-0811-5.

Lashley, T and Rohrer, JD and Bandopadhyay, R and Fry, C and Ahmed, Z and Isaacs, AM and Brelstaff, JH and Borroni, B and Warren, JD and Troakes, C and King, A and Al-Saraj, S and Newcombe, J and Quinn, N and Ostergaard, K and Schroder, HD and Bojsen-Moller, M and Braendgaard, H and Fox, NC and Rossor, MN and Lees, AJ and Holton, JL and Revesz, T (2011) A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies. BRAIN , 134 2548 - 2564. 10.1093/brain/awr160.

Laura, M and Eichler, FS and Hornemann, T and Polke, J and Davis, M and Bull, K and Houlden, H and Reilly, MM (2011) HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1: CORRELATION OF SEVERITY AND PLASMA ATYPICAL DEOXY-SPHYNGOID BASES. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S72 - S73). WILEY-BLACKWELL

Laura, M and Murphy, SM and Rossor, A and Hiscock, A and Main, M and Shy, ME and Muntoni, F and Reilly, MM (2011) Charcot-Marie-Tooth disease and related disorders: a natural history study. In: NEUROMUSCULAR DISORDERS. (pp. S17 - S17). PERGAMON-ELSEVIER SCIENCE LTD

Leveille, N and Elkon, R and Davalos, V and Manoharan, V and Hollingworth, D and Oude Vrielink, J and le Sage, C and Melo, CA and Horlings, HM and Wesseling, J and Ule, J and Esteller, M and Ramos, A and Agami, R (2011) Selective inhibition of microRNA accessibility by RBM38 is required for p53 activity. Nat Commun , 2 513 - ?. 10.1038/ncomms1519.

Ling, H and Bhidayasiri, R (2011) Reduced serum caeruloplasmin levels in non-wilsonian movement disorders. Eur Neurol , 66 (3) 123 - 127. 10.1159/000330538.

Ling, H and Braschinsky, M and Taba, P and Luus, SM and Doherty, K and Hotter, A and Poewe, W and Lees, AJ (2011) Decades of Delayed Diagnosis in 4 Levodopa-Responsive Young-Onset Monogenetic Parkinsonism Patients. MOVEMENT DISORD , 26 (7) 1337 - 1340. 10.1002/mds.23563.

Ling, H and Polke, JM and Sweeney, MG and Haworth, A and Sandford, CA and Heales, SJR and Wood, NW and Davis, MB and Lees, AJ (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.

Liu, YT and Murphy, SM and Houlden, H and Reilly, MM (2011) Neurofilament light chain polypeptide gene (NEFL) mutations in autosomal dominant or sporadic Charcot-Marie-Tooth disease. In: NEUROMUSCULAR DISORDERS. (pp. S17 - S17). PERGAMON-ELSEVIER SCIENCE LTD

Lubbe, SJ and Pittman, AM and Matijssen, C and Twiss, P and Olver, B and Lloyd, A and Qureshi, M and Brown, N and Nye, E and Stamp, G and Blagg, J and Houlston, RS (2011) Evaluation of germline BMP4 mutation as a cause of colorectal cancer. Hum Mutat , 32 (1) E1928 - E1938. 10.1002/humu.21376.

Machado, P and Miller, A and Parton, M and Dewar, L and Holton, JL and Dimachkie, M and Herbelir, L and Greensmith, L and Barohn, R and Hanna, MG (2011) A randomised, double-blinded, placebo-controlled pilot study assessing the safety and tolerability of Arimoclomol in sporadic inclusion body myositis (IBM). In: NEUROMUSCULAR DISORDERS. (pp. S27 - S27). PERGAMON-ELSEVIER SCIENCE LTD

Malik, B and Nirmalananthan, N and Bilsland, LG and La Spada, AR and Hanna, MG and Schiavo, G and Gallo, JM and Greensmith, L (2011) Absence of disturbed axonal transport in spinal and bulbar muscular atrophy. HUM MOL GENET , 20 (9) 1776 - 1786. 10.1093/hmg/ddr061.

Manzoni, C and Colombo, L and Bigini, P and Diana, V and Cagnotto, A and Messa, M and Lupi, M and Bonetto, V and Pignataro, M and Airoldi, C and Sironi, E and Williams, A and Salmona, M (2011) The Molecular Assembly of Amyloid A beta Controls Its Neurotoxicity and Binding to Cellular Proteins. PLOS ONE , 6 (9) , Article e24909. 10.1371/journal.pone.0024909. An open access publication. A version is also available from UCL Discovery.

Marelli, C and van de Leemput, J and Johnson, JO and Tison, F and Thauvin-Robinet, C and Picard, F and Tranchant, C and Hernandez, DG and Huttin, B and Boulliat, J and Sangla, I and Marescaux, C and Brique, S and Dollfus, H and Arepalli, S and Benatru, I and Ollagnon, E and Forlani, S and Hardy, J and Stevanin, G and Durr, A and Singleton, A and Brice, A (2011) SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia. ARCH NEUROL-CHICAGO , 68 (5) 637 - 643.

Massey, LA and Miranda, MA and Zrinzo, L and Al-Helli, O and Parkes, HG and Thornton, JS and So, P-W and White, MJ and Mancini, L and Strand, C and Holton, JL and Hariz, MI and Lees, AJ and Revesz, T and Yousry, TA (2011) High resolution MR anatomy of the subthalamic nucleus: Imaging at 9.4 T with histological validation. NeuroImage

Matthews, E and Manzur, AY and Sud, R and Muntoni, F and Hanna, MG (2011) Stridor as a Neonatal Presentation of Skeletal Muscle Sodium Channelopathy. ARCH NEUROL-CHICAGO , 68 (1) 127 - 129.

Matthews, E and Miller, JAL and Macleod, MR and Ironside, J and Ambler, G and Labrum, R and Sud, R and Holton, JL and Hanna, MG (2011) SODIUM AND CHLORIDE CHANNELOPATHIES WITH MYOSITIS: COINCIDENCE OR CONNECTION? MUSCLE NERVE , 44 (2) 283 - 288. 10.1002/mus.22120.

Matthews, E and Portaro, S and Ke, Q and Sud, R and Haworth, A and Davis, MB and Griggs, RC and Hanna, MG (2011) Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype. Neurology , 77 (22) 1960 - 1964. 10.1212/WNL.0b013e31823a0cb6.

McManus, IC and Jonvik, H and Richards, P and Paice, E (2011) Vocation and avocation: leisure activities correlate with professional engagement, but not burnout, in a cross-sectional survey of UK doctors. BMC MED , 9 , Article 100. 10.1186/1741-7015-9-100. An open access publication

Meschia, JF and Nalls, M and Matarin, M and Brott, TG and Brown, RD and Hardy, J and Kissela, B and Rich, SS and Singleton, A and Hernandez, D and Ferrucci, L and Pearce, K and Keller, M and Worrall, BB and Siblings Ischemic Stroke Study, (2011) Siblings With Ischemic Stroke Study Results of a Genome-Wide Scan for Stroke Loci. STROKE , 42 (10) 2726 - U83. 10.1161/STROKEAHA.111.620484.

Meschia, JF and Nalls, MA and Rich, SS and Singleton, A and Hardy, JA and Brott, TG and Brown, RD and Kissela, B and Worrall, BB and SWISS Investigators, (2011) Genome-wide Search for Ischemic Stroke Genes: The Siblings with Ischemic Stroke Study (SWISS). In: STROKE. (pp. E269 - E269). LIPPINCOTT WILLIAMS & WILKINS

Meschia, JF and Singleton, A and Nalls, MA and Rich, SS and Sharma, P and Ferrucci, L and Matarin, M and Hernandez, DG and Pearce, K and Brott, TG and Brown, RD and Hardy, J and Worrall, BB (2011) Genomic Risk Profiling of Ischemic Stroke: Results of an International Genome-Wide Association Meta-Analysis. PLOS ONE , 6 (9) , Article e23161. 10.1371/journal.pone.0023161. An open access publication. A version is also available from UCL Discovery.

Miller, A and Ahmed, M and Hanna, MG and Greensmith, L (2011) The effects of arimoclomol on pathological outcome measures of inclusion body myositis in vitro. In: NEUROMUSCULAR DISORDERS. (pp. S27 - S27). PERGAMON-ELSEVIER SCIENCE LTD

Miller, A and Machado, P and Morrow, JM and Hiscock, A and Dewar, L and Brady, S and Hilton-Jones, D and Hanna, MG and Parton, M (2011) The natural history of sporadic inclusion body myositis: development of an electronic database IBMnet. In: NEUROMUSCULAR DISORDERS. (pp. S29 - S29). PERGAMON-ELSEVIER SCIENCE LTD

Morrow, JM and Dewar, EL and Ramdharry, GM and Laura, M and Yousry, TA and Hanna, MG and Reilly, MM (2011) ISOMETRIC AND ISOKINETIC LOWER LIMB STRENGTH IN CHARCOT-MARIE-TOOTH DISEASE 1A. In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. (pp. S90 - S90). WILEY-BLACKWELL

Morrow, JM and Matthew