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Number of items: 243.

A

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

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

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

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

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

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

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

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

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

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

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

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

Anzak, A and Tan, H and Pogosyan, A and Ling, H and Lees, AJ and Brown, P (2011) Improvements in rate of development and magnitude of force with intense auditory stimuli in patients with Parkinson's disease. European Journal of Neuroscience , 34 (1) 124 - 132.

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

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

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

B

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

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

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

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

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

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

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

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

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

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

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

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

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

C

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

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

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

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

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

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

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

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

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

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

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

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

D

Deas, E and Plun-Favreau, H and Gandhi, S and Desmond, H and Kjaer, S and Loh, SHY and Renton, AEM and Harvey, RJ and Whitworth, AJ and Martins, LM and Abramov, AY and Wood, NW (2011) PINK1 cleavage at position A103 by the mitochondrial protease PARL. Human Molecular Genetics , 20 (5) pp. 867-879. 10.1093/hmg/ddq526.
An open access version is available from UCL Discovery
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Deas, E and Wood, NW and Plun-Favreau, H (2011) Mitophagy and Parkinson's disease: The PINK1-parkin link. BBA-MOL CELL RES , 1813 (4) 623 - 633. 10.1016/j.bbamcr.2010.08.007.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

E

Evans, DM and Spencer, CCA and Pointon, JJ and Su, Z and Harvey, D and Kochan, G and Opperman, U and Dilthey, A and Pirinen, M and Stone, MA and Appleton, L and Moutsianis, L and Leslie, S and Wordsworth, T and Kenna, TJ and Karaderi, T and Thomas, GP and Ward, MM and Weisman, MH and Farrar, C and Bradbury, LA and Danoy, P and Inman, RD and Maksymowych, W and Gladman, D and Rahman, P and Morgan, A and Marzo-Ortega, H and Bowness, P and Gaffney, K and Gaston, JSH and Smith, M and Bruges-Armas, J and Couto, AR and Sorrentino, R and Paladini, F and Ferreira, MA and Xu, HJ and Liu, Y and Jiang, L and Lopez-Larrea, C and Diaz-Pena, R and Lopez-Vazquez, A and Zayats, T and Band, G and Bellenguez, C and Blackburn, H and Blackwell, JM and Bramon, E and Bumpstead, SJ and Casas, JP and Corvin, A and Craddock, N and Deloukas, P and Dronov, S and Duncanson, A and Edkins, S and Freeman, C and Gillman, M and Gray, E and Gwilliam, R and Hammond, N and Hunt, SE and Jankowski, J and Jayakumar, A and Langford, C and Liddle, J and Markus, HS and Mathew, CG and McCann, OT and McCarthy, MI and Palmer, CNA and Peltonen, L and Plomin, R and Potter, SC and Rautanen, A and Ravindrarajah, R and Ricketts, M and Samani, N and Sawcer, SJ and Strange, A and Trembath, RC and Viswanathan, AC and Waller, M and Weston, P and Whittaker, P and Widaa, S and Wood, NW and McVean, G and Reveille, JD and Wordsworth, BP and Brown, MA and Donnelly, P and Australo-Anglo-Amer Spondyloarthri, and Wellcome Trust Case Control Consor, and Spondyloarthrit Res Consortium Can, (2011) Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. NAT GENET , 43 (8) 761 - U67. 10.1038/ng.873.

F

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

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

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

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

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

Fletcher, E.V. (2011) Alternative splicing in SCN1A: biophysical consequences for NaV1.1 channels. Doctoral thesis, UCL (University College London).
An open access version is available from UCL Discovery
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Forrest, KML and Al-Sarraj, S and Sewry, C and Buk, S and Tan, SV and Pitt, M and Durward, A and McDougall, M and Irving, M and Hanna, MG and Matthews, E and Sarkozyi, A and Hudson, J and Barresi, R and Bushby, K and Jungbluth, H and Wraige, E (2011) Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. NEUROMUSCULAR DISORD , 21 (1) 37 - 40. 10.1016/j.nmd.2010.11.003.

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

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

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

G

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

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

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This list was generated on Fri May 24 10:45:24 2013 BST.