UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Browse by UCL Departments and Centres

Up a level
Export as [feed] RSS 2.0 [feed] RSS 1.0 [feed] Atom
Group by: Author | Type
Jump to: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | W | X | Z
Number of items: 293.

A

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.

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.

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) Authors response to scientific correspondence. Neuropathology and Applied Neurobiology , 38 (4) 381 - 381.

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.

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.

B

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.

C

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 , 135 751 - 764. 10.1093/brain/awr365.

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.

D

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
 file

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.
 file

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.
 file

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.

E

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.

F

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. Neurobiology of Aging , 33 (8) e1 - e11.

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.

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

G

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.
 file

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.

H

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.

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.

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.
 file

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 1 - 14.

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.

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.

I

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.

J

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.

K

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. Neurobiology of Aging , 33 (9) 2231e7 - 2231e14.

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.

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
 file

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. Neuroscience Letters , 523 (1) 35 - 38.

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.

L

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.
 file

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.

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 (2012) Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Neuropathol Appl Neurobiol 10.1111/j.1365-2990.2012.01269.x.

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.
 file

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.

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.

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.

M

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. Movement Disorders , 27 (14) 1754 - 1762.

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 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.
 file

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.

N

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.

O

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.

P

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. Neuropathology and Applied Neurobiology , 38 (6) 520 - 534.

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.

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.

R

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.
 file

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.

S

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.
 file

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? Mov Disord , 27 (9) 1182 - 1185. 10.1002/mds.25102.

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.
 file

T

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.
 file

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.

W

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 e1003067 - ?. 10.1371/journal.pgen.1003067.
An open access publication

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.
 file

X

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. Movement Disorders , 27 (10) 1290 - 1294.

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.

Z

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.

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.

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.

This list was generated on Wed Jun 12 06:24:15 2013 BST.