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UCL University College London Eprints (411.880 recursos)

UCL Eprints collects the work of UCL researchers and makes it freely available over the web, helping the worldwide scholarly community to discover UCL research. Institutional repositories like UCL Eprints complement the traditional academic publishing and scholarly communications processes. They raise the visibility of research and help to maximise its impact. UCL researchers are encouraged to deposit a copy of each journal article, conference paper, working paper, and any other research output, in the UCL Eprints at the earliest opportunity, ensuring that their research reaches as wide an audience as possible.

Mostrando recursos 161 - 180 de 63.035

  1. De Novo Coding Variants Are Strongly Associated with Tourette Disorder

    Willsey, AJ; Fernandez, TV; Yu, D; King, RA; Dietrich, A; Xing, J; Sanders, SJ; Mandell, JD; Huang, AY; Richer, P; Smith, L; Dong, S; Samocha, KE; Abdulkadir, M; Bohnenpoll, J; Bromberg, Y; Brown, LW; Cheon, KA; Coffey, BJ; Deng, L; Dietrich, A; Dong, S; Elzerman, L; Fernandez, TV; Fründt, O; Garcia-Delgar, B; Gedvilaite, E; Gilbert, DL; Grice, DE; Hagstrøm, J; Hedderly, T; Heiman, GA; Heyman, I; Hoekstra, PJ; Hong, HJ; Huyser, C; Ibanez-Gomez, L; Kim, YK; Kim, YS; King, RA; Koh, YJ; Kook, S; Kuperman, S; Lamerz, A; Leventhal, B; Ludolph, AG; Lühr da Silva, C; Madruga-Garrido, M; Mandell, JD; Maras, A; Mir, P; Morer, A; Münchau, A; Murphy, TL; Nasello, C; Openneer, TJC; Plessen, KJ; Richer, P; Roessner, V; Sanders, S; Shin, EY; Sival, DA; Smith, L; Song, DH; Song, J; State, MW; Stolte, AM; Sun, N; Tischfield, JA; Tübing, J; Visscher, F; Walker, MF; Wanderer, S; Wang, S; Willsey, AJ; Woods, M; Xing, J; Zhang, Y; Zhou, A; Zinner, SH; Barr, CL; Batterson, JR; Berlin, C; Bruun, RD; Budman, CL; Cath, DC; Chouinard, S; Coppola, G; Cox, NJ; Darrow, S; Davis, LK; Dion, Y; Freimer, NB; Grados, MA
    © 2017 Elsevier Inc.Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely...

  2. Understanding city-regionalism in China: regional cooperation in the Yangtze River Delta

    Li, Y; Wu, F
    © 2017 Regional Studies AssociationUnderstanding city-regionalism in China: regional cooperation in the Yangtze River Delta. Regional Studies. China has witnessed the orchestration of city-regionalism and two different regional-scale mechanisms have influenced this integration and cooperation: the top-down state-mandated process and the bottom-up process initiated by local governments. However, this has not been a smooth process and it is shaped by the internal politics generated by China’s state configurations. Using the Yangtze River Delta as a case study, this paper argues that China’s territorial administrative divisions are a historical configuration that is essential to understand the efforts to construct city-regions as...

  3. Reyner banham's hat

    Fraser, M
    © 2014 John Wiley & Sons Ltd. All rights reserved.This chapter greatly admires Reyner Banham's energetic and vivid style. The author recalls him entering the rather drab seminar room in University College London to look like a cowboy. Adrian Forty greatly admired Banham, but was also far too aware of the latter's blind spots and weaknesses. He took so much from Banham, possibly in part subconsciously, something that was to become more evident over the years. The author contends that there are two main infusions from the Banham influence that shaped Adrian's writings. Taking the first point, in this sense...

  4. Does body movement engage you more in digital game play? and why?

    Bianchi-Berthouze, N; Kim, WW; Patel, D

  5. Functional organization of excitatory synaptic strength in primary visual cortex

    Cossell, L; Iacaruso, MF; Muir, DR; Houlton, R; Sader, EN; Ko, H; Hofer, SB; Mrsic-Flogel, TD

  6. The empirical variance estimator for computer aided diagnosis: lessons for algorithm validation.

    Mendelson, AF; Zuluaga, MA; Thurfjell, L; Hutton, BF; Ourselin, S
    Computer aided diagnosis is an established field in medical image analysis; a great deal of effort goes into the development and refinement of pipelines to achieve greater performance. This improvement is dependent on reliable comparison, which is intimately related to variance estimation. For supervised methods, this can be confounded by statistical issues at the comparatively small sample sizes typical of the field. Given the importance of reliable comparison to pipeline development, this issue has received relatively little attention. As a solution, we advocate an empirical variance estimator based on validation within disjoint subsets of the available data. Using Alzheimer's disease...

  7. Understanding Epileptiform After-Discharges as Rhythmic Oscillatory Transients

    Baier, G; Taylor, PN; Wang, Y


    May, P; Dexter, F; Hussein, A; Ahmed, Y; Hosseini, A; Wiklund, P; Peabody, J; Ho-Rha, K; Richstone, L; Khan, S; Wijburg, C; Saar, M; Canda, AE; Kaouk, J; Wagner, A; Yuh, B; Redorta, J; Balbay, MD; Maatman, T; Smits, G; Menon, M; Stoeckle, M; Kawa, O; Hemal, A; Pini, G; Gaboardi, F; Mottrie, A; Kelly, J; Tan, WS; Schanne, F; Weizer, A; Peak, TC; Guru, K


    Khetrapal, P; Dong, L; Wong, YNS; Tan, WS; Rodney, S; Lamb, B; Sridhar, A; Briggs, T; Kelly, J; Feber, A

  10. Update on Foregut Molecular Embryology and Role of Regenerative Medicine Therapies.

    Perin, S; McCann, CJ; Borrelli, O; De Coppi, P; Thapar, N
    Esophageal atresia (OA) represents one of the commonest and most severe developmental disorders of the foregut, the most proximal segment of the gastrointestinal (GI) tract (esophagus and stomach) in embryological terms. Of intrigue is the common origin from this foregut of two very diverse functional entities, the digestive and respiratory systems. OA appears to result from incomplete separation of the ventral and dorsal parts of the foregut during development, resulting in disruption of esophageal anatomy and frequent association with tracheo-oesophageal fistula. Not surprisingly, and likely inherent to OA, are associated abnormalities in components of the enteric neuromusculature and ultimately loss...

  11. Social Reward Questionnaire-Adolescent Version and its association with callous-unemotional traits.

    Foulkes, L; Neumann, CS; Roberts, R; McCrory, E; Viding, E
    During adolescence, social interactions are a potent source of reward. However, no measure of social reward value exists for this age group. In this study, we adapted the adult Social Reward Questionnaire, which we had previously developed and validated, for use with adolescents. Participants aged 11-16 (n = 568; 50% male) completed the Social Reward Questionnaire-Adolescent Version (SRQ-A), alongside measures of personality traits-five-factor model (FFM) and callous-unemotional (CU) traits-for construct validity purposes. A confirmatory factor analysis of the SRQ-A supported a five-factor structure (Comparative Fit Index = 0.90; Root Mean Square Error of Approximation = 0.07), equating to five questionnaire subscales: enjoyment of Admiration, Negative Social...

  12. Predictors of atrial fibrillation in hypertrophic cardiomyopathy

    Guttmann, OP; Pavlou, M; O'Mahony, C; Monserrat, L; Anastasakis, A; Rapezzi, C; Biagini, E; Gimeno, JR; Limongelli, G; Garcia-Pavia, P; McKenna, WJ; Omar, RZ; Elliott, PM

  13. Acting without being in control: Exploring volition in Parkinson's disease with impulsive compulsive behaviours.

    Ricciardi, L; Haggard, P; de Boer, L; Sorbera, C; Stenner, M-P; Morgante, F; Edwards, MJ
    BACKGROUND: Several aspects of volitional control of action may be relevant in the pathophysiology of impulsive-compulsive behaviours (ICB) in Parkinson's disease (PD). We aimed to explore multiple aspects of action control, assessing reward-related behaviour, inhibition (externally and internally triggered) and sense of agency in PD patients, with and without ICB compared to healthy subjects. METHODS: Nineteen PD patients with ICB (PD-ICB), 19 PD without ICB (PD-no-ICB) and 19 healthy controls (HC) underwent a battery of tests including: Intentional Binding task which measures sense of agency; Stop Signal Reaction Time (SSRT) measuring capacity for reactive inhibition; the Marble task, assessing intentional...

  14. Choosing, Doing, and Controlling: Implicit Sense of Agency Over Somatosensory Events.

    Borhani, K; Beck, B; Haggard, P
    Sense of agency-a feeling of control over one's actions and their outcomes-might include at least two components: free choice over which outcome to pursue and motoric control over the action causing the outcome. We orthogonally manipulated locus of outcome choice (free or instructed choice) and motoric control (active or passive movement), while measuring the perceived temporal attraction between actions and outcomes ( temporal binding) as an implicit marker of agency. Participants also rated stimulus intensity so that we could measure sensory attenuation, another possible implicit marker of agency. Actions caused higher or lower levels of either painful heat or mild...

  15. The Power of Suggestion: Posthypnotically Induced Changes in the Temporal Binding of Intentional Action Outcomes.

    Lush, P; Caspar, EA; Cleeremans, A; Haggard, P; Magalhães De Saldanha da Gama, PA; Dienes, Z
    The sense of agency is the experience of initiating and controlling one's voluntary actions and their outcomes. Intentional binding (i.e., when voluntary actions and their outcomes are perceived to occur closer together in time than involuntary actions and their outcomes) is increased in intentional action but requires no explicit reflection on agency. The reported experience of involuntariness is central to hypnotic responding, during which strategic action is experienced as involuntary. We report reduced intentional binding in a hypnotically induced experience of involuntariness, providing an objective correlate of reports of involuntariness. We argue that this reduced binding results from the diminished...

  16. Increase in Extracellular Hydration Status After Initiating Peritoneal Dialysis Electively.

    Panorchan, K; Davenport, A
    Renal replacement therapy is designed to treat uremic symptoms and correct hypervolemia. We hypothesized that starting peritoneal dialysis (PD) should reduce overhydration, and we measured body composition and hydration status using bioimpedance in PD patients prior to training and then at the first assessment of peritoneal membrane function. We studied 100 consecutive patients with a planned start to PD, without peritoneal infections or mechanical catheter problems, mean age 54.7 ± 17.1 years, 57% male and 25% diabetic. Extracellular water (ECW) overhydration increased from -0.06 (-1.21 to 0.97) L to 0.96 (0.50 to 3.01) L, p < 0.001. Fat mass increased...

  17. Visual-spatial cognition in women with polycystic ovarian syndrome: the role of androgens

    Barry, JA; Parekh, HSK; Hardiman, PJ
    STUDY QUESTION: Are women with polycystic ovary syndrome (PCOS) better at three-dimensional mental rotation than other women? SUMMARY ANSWER: Women with PCOS scored significantly higher on a mental rotation task than a female control group. WHAT IS KNOWN ALREADY: PCOS is a condition characterized by elevated testosterone levels. Some researches have found that three-dimensional mental rotation task performance is positively correlated with testosterone levels. STUDY DESIGN, SIZE, DURATION: This cross-sectional study was conducted between June 2006 and January 2009. The participants were 69 women with PCOS and 41 controls recruited from five gynaecology clinics in London. The control group consisted...

  18. Consensus statement on diagnosis, investigation, treatment and prevention of acute bacterial meningitis in immunocompetent adults

    Begg, N; Cartwright, KAV; Cohen, J; Kaczmarski, EB; Innes, JA; Leen, CLS; Nathwani, D; Singer, M; Southgate, L; Todd, WTA; Welsby, PD; Wood, MJ

  19. Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates.

    Bartolome, F; Esteras, N; Martin-Requero, A; Boutoleau-Bretonniere, C; Vercelletto, M; Gabelle, A; Le Ber, I; Honda, T; Dinkova-Kostova, AT; Hardy, J; Carro, E; Abramov, AY
    Abnormal mitochondrial function has been found in patients with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Mutations in the p62 gene (also known as SQSTM1) which encodes the p62 protein have been reported in both disorders supporting the idea of an ALS/FTD continuum. In this work the role of p62 in energy metabolism was studied in fibroblasts from FTD patients carrying two independent pathogenic mutations in the p62 gene, and in a p62-knock-down (p62 KD) human dopaminergic neuroblastoma cell line (SH-SY5Y). We found that p62 deficiency is associated with inhibited complex I mitochondrial respiration due to lack of NADH...

  20. A randomized clinical trial comparing fixed vs pro-re-nata dosing of Ozurdex in refractory diabetic macular oedema (OZDRY study).

    Ramu, J; Yang, Y; Menon, G; Bailey, C; Narendran, N; Bunce, C; Quartilho, A; Prevost, AT; Hykin, P; Sivaprasad, S; OZDRY Study Group,
    OBJECTIVE: To compare the clinical effectiveness and safety of 5-monthly fixed dosing vs pro-re-nata (PRN) Ozurdex treatment in patients with refractory diabetic macular oedema (DMO). DESIGN: Prospective, multicentre, randomized active-controlled non-inferiority clinical trial. PARTICIPANTS: Participants were 100 patients who attended Medical Retina Clinics for management of centre-involving refractory DMO. INTERVENTIONS: Participants were randomized 1 : 1 to either 5-monthly fixed dosing or optical coherence tomography (OCT)-guided PRN regimen of Ozurdex therapy for DMO. Data were collected on best-corrected visual acuity (BCVA), patient-reported outcome measures (PROM), macular thickness and morphology, diabetic retinopathy status, number of injections and adverse events from baseline for a...

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