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Number of items: 417.

A

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

Abeti, R; 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; Miller, A; Hanna, MG; 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; Asi, YT; Sailer, A; Lees, AJ; Houlden, H; Revesz, T; 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; Revesz, T; 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.

Alg, VS; Sofat, R; Houlden, H; Grieve, J; Watkins, LD; Werring, DJ; (2012) Genetic association studies of intracranial aneurysms: systematic review and meta-analysis in over 106 000 individuals. INTERNATIONAL JOURNAL OF STROKE , 7 8 - 8.

Andreasson, U; Portelius, E; Pannee, J; Zetterberg, H; Blennow, K; (2012) Multiplexing and multivariate analysis in neurodegeneration. Methods , 56 (4) 464 - 470. 10.1016/j.ymeth.2012.02.004.

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

Angel, TE; Jacobs, JM; Spudich, SS; Gritsenko, MA; Fuchs, D; Liegler, T; ... Smith, RD; + view all (2012) The cerebrospinal fluid proteome in HIV infection: change associated with disease severity. Clin Proteomics , 9 (1) 3 - ?. 10.1186/1559-0275-9-3.

Ä

Änkö, ML; Müller-McNicoll, M; Brandl, H; Curk, T; Gorup, C; Henry, I; ... Neugebauer, KM; + view all (2012) The RNA-binding landscapes of two SR proteins reveal unique functions and binding to diverse RNA classes. Genome Biol , 13 (3) R17 - ?. 10.1186/gb-2012-13-3-r17.

B

Bartlett, JW; Frost, C; Mattsson, N; Skillbäck, T; Blennow, K; Zetterberg, H; 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; Duchen, M; Hanna, MG; (2012) Muscle degeneration in ion channel dysfunction. In: NEUROMUSCULAR DISORDERS. (pp. S16 - S16).

Beall, C; Hamilton, DL; Gallagher, J; Logie, L; Wright, K; Soutar, MP; ... Ashford, ML; + view all (2012) Mouse hypothalamic GT1-7 cells demonstrate AMPK-dependent intrinsic glucose-sensing behaviour. Diabetologia , 55 (9) 2432 - 2444. 10.1007/s00125-012-2617-y.

Bech, S; Hjermind, LE; Salvesen, L; Nielsen, JE; Heegaard, NH; Jørgensen, HL; ... Winge, K; + view all (2012) Amyloid-related biomarkers and axonal damage proteins in parkinsonian syndromes. Parkinsonism Relat Disord , 18 (1) 69 - 72. 10.1016/j.parkreldis.2011.08.012.

Bendlin, BB; Carlsson, CM; Johnson, SC; Zetterberg, H; Blennow, K; Willette, AA; ... Sager, MA; + view all (2012) CSF T-Tau/Aβ42 predicts white matter microstructure in healthy adults at risk for Alzheimer's disease. PLoS One , 7 (6) e37720 - ?. 10.1371/journal.pone.0037720.

Benilova, I; Karran, E; De Strooper, B; (2012) The toxic Aβ oligomer and Alzheimer's disease: an emperor in need of clothes. Nat Neurosci , 15 (3) 349 - 357. 10.1038/nn.3028.

BenMoyal-Segal, L; Soreq, L; Ben-Shaul, Y; Ben-Ari, S; Ben-Moshe, T; Aviel, S; ... Soreq, H; + view all (2012) Adaptive Alternative Splicing Correlates with Less Environmental Risk of Parkinsonism. Neurodegenerative Diseases , 9 (2) 87 - 98. 10.1159/000331328.

Bettencourt, C; Bruges-Armas, J; Lima, M; Raposo, M; Ros, R; Montiel, R; (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. 10.1007/s12031-012-9832-3.

Bettencourt, C; Kazachkova, N; Sequeiros, J; Bruges-Armas, J; Lima, M; Raposo, M; ... Jardim, LB; + view all (2012) Sequence analysis of 5′ regulatory regions of the Machado-Joseph disease gene (ATXN3). Cerebellum , 11 (4) 1045 - 1050. 10.1007/s12311-012-0373-7.

Bettencourt, C; 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; Lima, M; 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; Ros, R; Ampuero, I; de Yébenes, JG; Quintáns, B; Yáñez, Z; ... Pascual, SI; + view all (2012) Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias. Human Mutation , 33 (9) 1315 - 1323. 10.1002/humu.22148.

Bezprozvanny, I; Supnet, C; Sun, S; Zhang, H; De Strooper, B; (2012) Response to Shilling et al. (10.1074/jbc.M111.300491). J Biol Chem , 287 (24) 20469 - ?. 10.1074/jbc.L112.356790.

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

Blennow, K; Zetterberg, H; Fagan, AM; (2012) Fluid biomarkers in Alzheimer disease. Cold Spring Harb Perspect Med , 2 (9) a006221 - ?. 10.1101/cshperspect.a006221.

Blennow, K; Zetterberg, H; Rinne, JO; Salloway, S; Wei, J; Black, R; ... AAB-001 201/202 Investigators,; + view all (2012) Effect of immunotherapy with bapineuzumab on cerebrospinal fluid biomarker levels in patients with mild to moderate Alzheimer disease. Arch Neurol , 69 (8) 1002 - 1010. 10.1001/archneurol.2012.90.

Borgegård, T; Gustavsson, S; Nilsson, C; Parpal, S; Klintenberg, R; Berg, AL; ... Lundkvist, J; + view all (2012) Alzheimer's disease: presenilin 2-sparing γ-secretase inhibition is a tolerable Aβ peptide-lowering strategy. J Neurosci , 32 (48) 17297 - 17305. 10.1523/JNEUROSCI.1451-12.2012.

Bowen, J; Southgate, R; Ali, A; Little, S; Liakos, A; Greaves, F; ... Finlayson, A; + view all (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; Squier, W; Hilton-Jones, D; Sewry, C; Hanna, M; Holton, JL; (2012) A histological evaluation of protein accumulation in inflammatory myopathies. In: NEUROMUSCULAR DISORDERS. (pp. S27 - S27).

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

Bras, J; Guerreiro, R; 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; Verloes, A; Schneider, SA; Mole, SE; Guerreiro, RJ; (2012) Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Human Molecular Genetics , 21 (12) 2646 - 2650. 10.1093/hmg/dds089. Green and gold open access
filefile

Brinkmalm, G; Portelius, E; Öhrfelt, A; Mattsson, N; Persson, R; Gustavsson, MK; ... Brinkmalm, A; + view all (2012) An online nano-LC-ESI-FTICR-MS method for comprehensive characterization of endogenous fragments from amyloid β and amyloid precursor protein in human and cat cerebrospinal fluid. J Mass Spectrom , 47 (5) 591 - 603. 10.1002/jms.2987.

Bromander, S; Anckarsäter, R; Kristiansson, M; Blennow, K; Zetterberg, H; Anckarsäter, H; Wass, CE; (2012) Changes in serum and cerebrospinal fluid cytokines in response to non-neurological surgery: an observational study. J Neuroinflammation , 9 242 - ?. 10.1186/1742-2094-9-242.

Brouillette, J; Caillierez, R; Zommer, N; Alves-Pires, C; Benilova, I; Blum, D; ... Buée, L; + view all (2012) Neurotoxicity and memory deficits induced by soluble low-molecular-weight amyloid-β1-42 oligomers are revealed in vivo by using a novel animal model. J Neurosci , 32 (23) 7852 - 7861. 10.1523/JNEUROSCI.5901-11.2012.

Bruno, D; Pomara, N; Nierenberg, J; Ritchie, JC; Lutz, MW; Zetterberg, H; Blennow, K; (2012) Levels of cerebrospinal fluid neurofilament light protein in healthy elderly vary as a function of TOMM40 variants. Exp Gerontol , 47 (5) 347 - 352. 10.1016/j.exger.2011.09.008.

Buchhave, P; Minthon, L; Zetterberg, H; Wallin, AK; Blennow, K; Hansson, O; (2012) Cerebrospinal fluid levels of β-amyloid 1-42, but not of tau, are fully changed already 5 to 10 years before the onset of Alzheimer dementia. Arch Gen Psychiatry , 69 (1) 98 - 106. 10.1001/archgenpsychiatry.2011.155.

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

Burge, JA; 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

Cai, J; Qi, X; Kociok, N; Skosyrski, S; Emilio, A; Ruan, Q; ... Boulton, ME; + view all (2012) β-Secretase (BACE1) inhibition causes retinal pathology by vascular dysregulation and accumulation of age pigment. EMBO Mol Med , 4 (9) 980 - 991. 10.1002/emmm.201101084.

Cambray, S; Arber, C; Little, G; Dougalis, AG; de Paola, V; Ungless, MA; ... Rodríguez, TA; + view all (2012) Activin induces cortical interneuron identity and differentiation in embryonic stem cell-derived telencephalic neural precursors. Nature Communications , 3 841 - 841. 10.1038/ncomms1817.

Cantó, E; Reverter, F; Morcillo-Suárez, C; Matesanz, F; Fernández, O; Izquierdo, G; ... Comabella, M; + view all (2012) Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis. Mult Scler , 18 (7) 983 - 990. 10.1177/1352458511433063.

Carmeliet, P; De Strooper, B; (2012) Alzheimer's disease: A breach in the blood-brain barrier. Nature , 485 (7399) 451 - 452. 10.1038/485451a.

Casas, JP; Hingorani, AD; (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. Green and gold open access
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Chan, MV; Bubb, KJ; Noyce, A; Villar, IC; Duchene, J; Hobbs, AJ; ... Ahluwalia, A; + view all (2012) Distinct endothelial pathways underlie sexual dimorphism in vascular auto-regulation. Br J Pharmacol , 167 (4) 805 - 817. 10.1111/j.1476-5381.2012.02012.x.

Charlesworth, G; Gandhi, S; Bras, JM; Barker, RA; Burn, DJ; Chinnery, PF; ... Wood, NW; + view all (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; Gandhi, S; Bras, JM; Gentleman, SM; Guerreiro, R; Hardy, J; ... Wood, NW; + view all (2012) First stage association analysis of neuropatholically proven PD confirms MAPT as an independent risk factor for PD. In: MOVEMENT DISORDERS. (pp. S450 - S451).

Charlesworth, G; Gandhi, S; Bras, JM; Guerreiro, R; Hardy, J; Sheerin, U-M; ... Morris, H; + view all (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiology of Aging , 33 (4) 10.1016/j.neurobiolaging.2011.11.001.

Charlesworth, G; Plagnol, V; Holmström, KM; Bras, J; Sheerin, UM; Preza, E; ... Wood, NW; + view all (2012) Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. The American Journal of Human Genetics , 91 (6) 1041 - 1050. 10.1016/j.ajhg.2012.10.024. Green and gold open access
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Chávez-Gutiérrez, L; Bammens, L; Benilova, I; Vandersteen, A; Benurwar, M; Borgers, M; ... De Strooper, B; + view all (2012) The mechanism of γ-Secretase dysfunction in familial Alzheimer disease. EMBO J , 31 (10) 2261 - 2274. 10.1038/emboj.2012.79.

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

Connick, P; Kolappan, M; Crawley, C; Webber, DJ; Patani, R; Michell, AW; ... Chandran, S; + view all (2012) Autologous mesenchymal stem cells for the treatment of secondary progressive multiple sclerosis: an open-label phase 2a proof-of-concept study. Lancet Neurol , 11 (2) 150 - 156. 10.1016/S1474-4422(11)70305-2.

Cooper-Knock, J; Hewitt, C; Highley, JR; Brockington, A; Milano, A; Man, S; ... Shaw, PJ; + view all (2012) Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain , 135 (3) 751 - 764. 10.1093/brain/awr365. Green and gold open access
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Coppola, G; Chinnathambi, S; Lee, JJ; Dombroski, BA; Baker, MC; Soto-Ortolaza, AI; ... Geschwind, DH; + view all (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; Machado, P; Miller, A; Brady, S; Hilton-Jones, D; Morrow, J; ... Hanna, M; + view all (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; Machado, P; Morrow, J; Dewar, L; Hiscock, A; Miller, A; ... Hanna, MG; + view all (2012) The natural history of sporadic inclusion body myositis: data from the IBM-Net prospective cohort study. In: NEUROMUSCULAR DISORDERS. (pp. S27 - S27).

Costa, C; Arrambide, G; Tintore, M; Castilló, J; Sastre-Garriga, J; Tur, C; ... Montalban, X; + view all (2012) Value of NMO-IgG determination at the time of presentation as CIS. Neurology , 78 (20) 1608 - 1611. 10.1212/WNL.0b013e3182563b32.

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

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

Crehan, H; Holton, P; Wray, S; Pocock, J; Guerreiro, R; 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; Cohen, SI; Deas, E; Abramov, AY; Chen, AY; Orte, A; ... Klenerman, D; + view all (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; Sibley, CR; 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; Andreasson, U; Pekna, M; Lautner, R; Hanse, E; Minthon, L; ... Zetterberg, H; + view all (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.

Dale, RC; Gardiner, A; Antony, J; Houlden, H; (2012) Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol , 54 (10) 958 - 960. 10.1111/j.1469-8749.2012.04394.x.

Davidson, G; Murphy, S; Polke, J; Laura, M; Salih, M; Muntoni, F; ... Reilly, M; + view all (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.

De Strooper, B; Iwatsubo, T; Wolfe, MS; (2012) Presenilins and γ-secretase: structure, function, and role in Alzheimer Disease. Cold Spring Harb Perspect Med , 2 (1) a006304 - ?. 10.1101/cshperspect.a006304.

De Strooper, B; Scorrano, L; (2012) Close encounter: mitochondria, endoplasmic reticulum and Alzheimer's disease. EMBO J , 31 (21) 4095 - 4097. 10.1038/emboj.2012.279.

De Strooper, B; Voet, T; (2012) Alzheimer's disease: A protective mutation. Nature , 488 (7409) 38 - 39. 10.1038/488038a.

Devine, MJ; (2012) Patient-derived cell models of Parkinson’s disease. Doctoral thesis, UCL (University College London). Green open access
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Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; ... Lewis, PA; + view all (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. Green and gold open access
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Dihanich, S; (2012) MASL1: a neglected ROCO protein. Biochem Soc Trans , 40 (5) 1090 - 1094. 10.1042/BST20120127.

Ding, S; Riddoch-Contreras, J; Abramov, AY; Qi, Z; 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; Riddoch-Contreras, J; Abramov, AY; Qi, Z; 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; O'Sullivan, SS; Lees, A; 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. Green and gold open access
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Djamshidian, A; O'Sullivan, SS; Sanotsky, Y; Sharman, S; Matviyenko, Y; Foltynie, T; ... Averbeck, BB; + view all (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; Stefanova, E; Jankovic, M; Gurunlian, N; Novakovic, I; Hardy, J; ... Guerreiro, R; + view all (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; Noyce, AJ; Silveira-Moriyama, L; Nisbet, A; Quinn, N; Lees, AJ; (2012) Familial camptocormia: from dystonia to myopathy. J Neurol Neurosurg Psychiatry , 83 (3) 350 - 351. 10.1136/jnnp.2011.246561.

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

Doherty, KM; Silveira-Moriyama, L; Giladi, N; Bhatia, KP; Parton, M; 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.

Doherty, KM; Silveira-Moriyama, L; Parkkinen, L; Healy, D; Farrell, M; Mencacci, NE; ... Holton, JL; + view all (2012) A clinicopathological study of parkin-linked parkinsonism - A study of 5 cases and comparison with Parkinson's disease. In: MOVEMENT DISORDERS. (pp. S453 - S453).

Domijan, AM; Kovac, S; 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; Hardy, J; McNeill, A; Schapira, AHV; Mehta, A; Hughes, D; ... Deegan, P; + view all (2012) Novel pathogenic mutations in the glucocerebrosidase locus. Molecular Genetics and Metabolism , 106 (4) 495 - 497. 10.1016/j.ymgme.2012.05.006.

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

E

Englund, E; Gustafson, L; Passant, U; Majounie, E; Renton, AE; Traynor, BJ; ... Hardy, J; + view all (2012) Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion. NEUROBIOLOGY OF AGING , 33 (8) , Article ARTN 1850.e13. 10.1016/j.neurobiolaging.2012.02.019.

Esselens, C; Sannerud, R; Gallardo, R; Baert, V; Kaden, D; Serneels, L; ... Annaert, W; + view all (2012) Peptides based on the presenilin-APP binding domain inhibit APP processing and Aβ production through interfering with the APP transmembrane domain. FASEB J , 26 (9) 3765 - 3778. 10.1096/fj.11-201368.

Everett, CM; Kara, E; Maresh, KE; Houlden, H; (2012) Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11. Journal of Neurology , 259 (12) 2726 - 2728. 10.1007/s00415-012-6642-z.

Everett, CM; Kara, E; Maresh, KE; Houlden, H; (2012) Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11. J Neurol , 259 (12) 2726 - 2728. 10.1007/s00415-012-6642-z.

F

Fahlke, C; Berggren, U; Berglund, KJ; Zetterberg, H; Blennow, K; Engel, JA; Balldin, J; (2012) Neuroendocrine assessment of serotonergic, dopaminergic, and noradrenergic functions in alcohol-dependent individuals. Alcohol Clin Exp Res , 36 (1) 97 - 103. 10.1111/j.1530-0277.2011.01598.x.

Fassone, E; Taanman, JW; Sweeney, MG; Woodward, C; Hargreaves, IP; Hanna, MG; ... Rahman, S; + view all (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; Murphy, SM; Polke, JM; Manji, H; Quinlivan, RM; Reilly, MM; ... Zdebik, AA; + view all (2012) Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. Journal of Neurology, Neurosurgery and Psychiatry , 83 (12) 1204 - 1209. 10.1136/jnnp-2012-303055.

Fawcett, KA; Murphy, SM; Polke, JM; Wray, S; Burchell, VS; Manji, H; ... Houlden, H; + view all (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; Mok, K; Moreno, JH; Cosentino, S; Goldman, J; Pietrini, P; ... Momeni, P; + view all (2012) Screening for C9ORF72 repeat expansion in FTLD. Neurobiol Aging , 33 (8) 1850.e1 - 1850.11. 10.1016/j.neurobiolaging.2012.02.017.

Ferrari, R; Moreno, JH; Momeni, P; Mok, K; Hardy, J; Cosentino, S; ... Ghetti, B; + view all (2012) Screening for C9ORF72 repeat expansion in FTLD. Neurobiology of Aging , 33 (8) 10.1016/j.neurobiolaging.2012.02.017.

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This list was generated on Sun Apr 20 04:03:50 2014 BST.