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Number of items: 217.

A

Abela, L; Kurian, MA; (2018) Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms. Journal of Inherited Metabolic Disease , 41 (6) pp. 1077-1091. 10.1007/s10545-018-0205-0. Green open access
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Adler, S; Blackwood, M; Northam, GB; Gunny, R; Hong, SJ; Bernhardt, BC; Bernasconi, A; ... Baldeweg, T; + view all (2018) Multimodal computational neocortical anatomy in pediatric hippocampal sclerosis. Annals of Clinical and Translational Neurology , 5 (10) pp. 1200-1210. 10.1002/acn3.634. Green open access
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Adler, S; Hong, S-J; Liu, M; Baldeweg, T; Cross, JH; Bernasconi, A; Bernhardt, BC; (2018) Topographic principles of cortical fluid-attenuated inversion recovery signal in temporal lobe epilepsy. Epilepsia , 59 (3) pp. 627-635. 10.1111/epi.14017. Green open access
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Aguti, S; Malerba, A; Zhou, H; (2018) The progress of AAV-mediated gene therapy in neuromuscular disorders. Expert Opinion on Biological Therapy , 18 (6) pp. 681-693. 10.1080/14712598.2018.1479739. Green open access
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Alves Nery, Fábio Rui; (2018) Development of an optimised non-invasive MRI method to measure renal perfusion in patients with impaired renal function. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Amin, S; Kingswood, JC; Bolton, PF; Elmslie, F; Gale, DP; Harland, C; Johnson, SR; ... O'Callaghan, FJ; + view all (2018) The UK guidelines for management and surveillance of Tuberous Sclerosis Complex. QJM: An International Journal of Medicine , Article hcy215. 10.1093/qjmed/hcy215. Green open access
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Astrea, G; Romano, A; Angelini, C; Antozzi, CG; Barresi, R; Battini, R; Battisti, C; ... Santorelli, FM; + view all (2018) Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. Orphanet Journal of Rare Diseases , 13 , Article 170. 10.1186/s13023-018-0863-x. Green open access
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Augustin, K; Khabbush, A; Williams, S; Eaton, SJ; Orford, M; Cross, H; Heales, SJ; ... Williams, R; + view all (2018) Mechanisms of action for the medium-chain triglyceride ketogenic diet in neurological and metabolic disorders. The Lancet Neurology , 17 (1) pp. 84-93. 10.1016/S1474-4422(17)30408-8. Green open access
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Auvin, S; Wirrell, E; Donald, KA; Berl, M; Hartmann, H; Valente, KD; Van Bogaert, P; ... Wilmshurst, JM; + view all (2018) Systematic review of the screening, diagnosis, and management of ADHD in children with epilepsy. Consensus paper of the Task Force on Comorbidities of the ILAE Pediatric Commission. Epilepsia , 59 (10) pp. 1867-1880. 10.1111/epi.14549. Green open access
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B

Baker, K; Gordon, SL; Melland, H; Bumbak, F; Scott, DJ; Jiang, TJ; Owen, D; ... Raymond, FL; + view all (2018) SYT1-associated neurodevelopmental disorder: a case series. Brain , 141 (9) pp. 2576-2591. 10.1093/brain/awy209. Green open access
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Baldassari, S; Picard, F; Verbeek, NE; van Kempen, M; Brilstra, EH; Lesca, G; Conti, V; ... Baulac, S; + view all (2018) The landscape of epilepsy-related GATOR1 variants. Genetics in Medicine 10.1038/s41436-018-0060-2. (In press). Green open access
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Bangash, MA; Alles, SRA; Santana-Varela, S; Millet, Q; Sikandar, S; de Clauser, L; Ter Heegde, F; ... Wood, JN; + view all (2018) Distinct transcriptional responses of mouse sensory neurons in models of human chronic pain conditions. Wellcome Open Research , 3 , Article 78. 10.12688/wellcomeopenres.14641.1. Green open access
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Baud, MO; Perneger, T; Rácz, A; Pensel, MC; Elger, C; Rydenhag, B; Malmgren, K; ... Seeck, M; + view all (2018) European trends in epilepsy surgery. Neurology , 91 (2) E96-E106. 10.1212/WNL.0000000000005776.

Beslow, LA; Dowling, MM; Hassanein, SMA; Lynch, JK; Zafeiriou, D; Sun, LR; Kopyta, I; ... Lee, J; + view all (2018) Mortality After Pediatric Arterial Ischemic Stroke. Pediatrics , 141 (5) , Article e20174146. 10.1542/peds.2017-4146. Green open access
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Bihlmeyer, NA; Brody, JA; Smith, AV; Warren, HR; Lin, H; Isaacs, A; Liu, C-T; ... Sotoodehnia, N; + view all (2018) ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals. Circulation: Genomic and Precision Medicine , 11 (1) , Article e001758. 10.1161/CIRCGEN.117.001758. Green open access
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Bishop, CA; Ricotti, V; Sinclair, CDJ; Evans, MRB; Butler, JW; Morrow, JM; Hanna, MG; ... Janiczek, RL; + view all (2018) Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy. Frontiers in Neurology , 9 , Article 9. 10.3389/fneur.2018.00009. Green open access
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Blencowe, N; Glasbey, J; Heywood, N; Kasivisvanathan, V; Lee, M; Nepogodiev, D; Wilkin, R; ... Williams, A; + view all (2018) Recognising contributions to work in research collaboratives: Guidelines for standardising reporting of authorship in collaborative research. International Journal of Surgery , 52 pp. 355-360. 10.1016/j.ijsu.2017.12.019. Green open access
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Bonthrone, Alexandra Faye; (2018) Brain Imaging Correlates of Developmental Coordination Disorder and Associated Impairments. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Bourke, JP; Watson, G; Muntoni, F; Spinty, S; Roper, H; Guglieri, M; Speed, C; ... DMD Heart Protection study group, .; + view all (2018) Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study. BMJ Open , 8 (12) , Article e022572. 10.1136/bmjopen-2018-022572. Green open access
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Braun, KPJ; Cross, JH; (2018) Pediatric epilepsy surgery: the earlier the better. Expert Review of Neurotherapeutics , 18 (4) pp. 261-263. 10.1080/14737175.2018.1455503. Green open access
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Brown, KL; Ridout, DA; Pagel, C; Lakhanpaul, M; Kakat, S; Banks, V; Franklin, R; ... Wray, J; + view all (2018) Validation of the Brief Developmental Assessment in pre-school children with heart disease. Cardiology in the Young , 28 (4) pp. 571-581. 10.1017/S1047951117002773. Green open access
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Buyse, GM; Rummey, C; Meier, T; Leinonen, M; Voit, T; McDonald, CM; Mayer, OH; (2018) Home-Based Monitoring of Pulmonary Function in Patients with Duchenne Muscular Dystroph. Journal of Neuromuscular Diseases , 5 (4) pp. 419-430. 10.3233/JND-180338. Green open access
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C

Catapano, F; Domingos, J; Perry, M; Ricotti, V; Phillips, L; Servais, L; Seferian, A; ... Muntoni, F; + view all (2018) Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients. Epigenomics , 10 (7) pp. 875-889. 10.2217/epi-2018-0022. Green open access
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Cearns, MD; Hettige, S; De Coppi, P; Thompson, DNP; (2018) Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach. Journal of Neurosurgery: Pediatrics , 22 (5) pp. 467-599. 10.3171/2018.5.PEDS17582. Green open access
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Charalambous, T; Prados Carrasco, F; Tur Gomez, C; Kanber, B; Ourselin, S; Chard, D; Clayden, JD; ... Toosy, A; + view all (2018) Longitudinal Analysis Framework of DWI Data for Reconstructing Structural Brain Networks with Application to Multiple Sclerosis. In: Kaden, E and Grussu, F and Ning, L and Tax, CMW and Veraart, J, (eds.) Computational Diffusion MRI. (pp. pp. 205-218). Springer: Cham, Switzerland.

Cossu, G; Birchall, M; Brown, T; De Coppi, P; Culme-Seymour, E; Gibbon, S; Hitchcock, J; ... Wilson, JGS; + view all (2018) Lancet Commission: Stem Cells and Regenerative Medicine. The Lancet , 391 (10123) pp. 883-910. 10.1016/S0140-6736(17)31366-1. Green open access
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Cox, SE; ELLINS, EA; Marealle, AI; Newton, C; Soka, D; Sasi, P; di Tanna, GL; ... Kirkham, F; + view all (2018) Ready-to-use food supplement +/- arginine & citrulline with daily chloroquine in Tanzanian children with sickle cell disease: a double blind random order cross-over trial. The Lancet Haematology , 5 (4) e147-e160. 10.1016/S2352-3026(18)30020-6. Gold open access
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D

D'Arco, F; Alves, CA; Raybaud, C; Chong, WKK; Ishak, GE; Ramji, S; Grima, M; ... Ganesan, V; + view all (2018) Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations. American Journal of Neuroradiology , 39 (11) pp. 2126-2131. 10.3174/ajnr.A5823. Green open access
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D'Arco, F; O'Hare, P; Dashti, F; Lassaletta, A; Loka, T; Tabori, U; Talenti, G; ... Laughlin, S; + view all (2018) Volumetric assessment of tumor size changes in pediatric low-grade gliomas: feasibility and comparison with linear measurements. Neuroradiology , 60 (4) pp. 427-436. 10.1007/s00234-018-1979-3. Green open access
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Day, KL; (2018) The Development Of Executive Functions And Information Processing Speeds In Toddlers Born Preterm. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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de Vries, PJ; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... Jansen, AC; + view all (2018) TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study. Orphanet Journal of Rare Diseases , 13 (1) , Article 157. 10.1186/s13023-018-0901-8. Green open access
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Devinsky, O; Patel, AD; Cross, JH; Villanueva, V; Wirrell, EC; Privitera, M; Greenwood, SM; ... Zuberi, SM; + view all (2018) Effect of Cannabidiol on Drop Seizures in the Lennox-Gastaut Syndrome. New England Journal of Medicine , 378 (20) pp. 1888-1897. 10.1056/NEJMoa1714631. Green open access
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Dlamini, N; Shah-Basak, P; Leung, J; Kirkham, F; Shroff, M; Kassner, A; Robertson, A; ... Logan, W; + view all (2018) Breath-Hold Blood Oxygen Level-Dependent MRI: A Tool for the Assessment of Cerebrovascular Reserve in Children with Moyamoya Disease. American Journal of Neuroradiology , 39 (9) pp. 1717-1723. 10.3174/ajnr.A5739. Green open access
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Domenger, C; Allais, M; François, V; Léger, A; Lecomte, E; Montus, M; Servais, L; ... Le Guiner, C; + view all (2018) RNA-Seq Analysis of an Antisense Sequence Optimized for Exon Skipping in Duchenne Patients Reveals No Off-Target Effect. Molecular Therapy: Nucleic Acids , 10 pp. 277-291. 10.1016/j.omtn.2017.12.008. Green open access
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Domingos, J; Ricotti, V; Martinez, AE; Muntoni, F; (2018) Severe persistent injection site reactions after subcutaneous 2'-O-methyl phosphorothioate oligonucleotide therapy for Duchenne muscular dystrophy. Neuromuscular Disorders , 28 (2) pp. 176-177. 10.1016/j.nmd.2017.11.015. Green open access
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Downes, M; Berg, C; Kirkham, FJ; Kischkel, L; McMurray, I; de Haan, M; (2018) Task utility and norms for the Preschool Executive Task Assessment (PETA). Child Neuropsychology , 24 (6) pp. 784-798. 10.1080/09297049.2017.1333092. Green open access
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Downes, M; de Haan, M; O'Leary, T; Telfer, PT; Kirkham, FJ; (2018) Temperament in preschool children with sickle cell anaemia. Archives of Disease in Childhood 10.1136/archdischild-2018-315054. (In press). Green open access
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Downes, M; Kelly, D; Day, K; Marlow, N; de Haan, M; (2018) Visual attention control differences in 12-month-old preterm infants. Infant Behavior and Development , 50 pp. 180-188. 10.1016/j.infbeh.2018.01.002. Green open access
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Downes, M; Kirkham, FJ; Telfer, PT; De Haan, M; (2018) Altered Neurophysiological Processing of Auditory Attention in Preschool Children With Sickle Cell Disease. Journal of Pediatric Psychology , 43 (8) pp. 856-869. 10.1093/jpepsy/jsx115. Green open access
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Downes, M; Kirkham, FJ; Telfer, PT; de Haan, M; (2018) Assessment of Executive Functions in Preschool Children With Sickle Cell Anemia. Journal of the International Neuropsychological Society , 24 (9) , Article Special Issue. 10.1017/S1355617718000255. Green open access
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Dragoumi, P; O'Callaghan, F; Zafeiriou, DI; (2018) Diagnosis of tuberous sclerosis complex in the fetus. European Journal of Paediatric Neurology , 22 (6) pp. 1027-1034. 10.1016/j.ejpn.2018.08.005. Green open access
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Dulal, S; Liégeois, F; Osrin, D; Kuczynski, A; Manandhar, D; Shrestha, B; Sen, A; ... Audrey, P; + view all (2018) Does antenatal micronutrient supplementation improve children’s cognitive function? Evidence from the follow-up of a double-blind randomised controlled trial in Nepal. BMJ Global Health , 3 (1) , Article e000527. 10.1136/bmjgh-2017-000527. Green open access
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E

Eldar, E; Roth, C; Dayan, P; Dolan, RJ; (2018) Decodability of Reward Learning Signals Predicts Mood Fluctuations. Current Biology , 28 (9) 1433-1439.e7. 10.1016/j.cub.2018.03.038. Green open access
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Elfeky, RA; Furtado-Silva, JM; Chiesa, R; Rao, K; Amrolia, P; Lucchini, G; Gilmour, K; ... Veys, P; + view all (2018) One hundred percent survival after transplantation of 34 patients with Wiskott-Aldrich syndrome over 20 years. [Letter]. Journal of Allergy and Clinical Immunology , 142 (5) 1654-1656.e7. 10.1016/j.jaci.2018.06.042. Green open access
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Elfeky, RA; Furtado-Silva, JM; Chiesa, R; Rao, K; Lucchini, G; Amrolia, P; Worth, A; ... Veys, P; + view all (2018) Umbilical cord blood transplantation without in vivo T-cell depletion for children with MHC class II deficiency. Journal of Allergy and Clinical Immunology , 141 (6) 2279-2282.e2. 10.1016/j.jaci.2017.10.051. Green open access
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Elward, RL; Vargha-Khadem, F; (2018) Semantic Memory in Developmental Amnesia. Neuroscience Letters , 680 pp. 23-30. 10.1016/j.neulet.2018.04.040. Green open access
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F

Faramand, AM; Barnes, N; Harrison, S; Gunny, R; Jacques, T; Tahir, MZ; Varadkar, SM; ... Tisdall, MM; + view all (2018) Seizure and cognitive outcomes after resection of glioneuronal tumors in children. Epilepsia , 59 (1) pp. 170-178. 10.1111/epi.13961. Green open access
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Farmery, JHR; Smith, ML; Lynch, AG; Huissoon, A; Furnell, A; Mead, A; Levine, AP; ... Tan, Y; + view all (2018) Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018). Scientific Reports , 8 , Article 13376. 10.1038/s41598-018-31524-0. Green open access
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Farmery, JHR; Smith, ML; NIHR BioResource - Rare Diseases, .; Lynch, AG; Mead, A; Levine, AP; Manzur, A; ... Huissoon, A; + view all (2018) Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. Scientific Reports , 8 , Article 1300. 10.1038/s41598-017-14403-y. Green open access
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Finkel, RS; Mercuri, E; Meyer, OH; Simonds, AK; Schroth, MK; Graham, RJ; Kirschner, J; ... Sejersen, T; + view all (2018) Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disorders , 28 (3) pp. 197-207. 10.1016/j.nmd.2017.11.004. Green open access
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Fisher, RS; Cross, JH; D Souza, C; French, JA; Haut, SR; Higurashi, N; Hirsch, E; ... Zuberi, SM; + view all (2018) Anleitung („instruction manual“) zur Anwendung der operationalen Klassifikation von Anfallsformen der ILAE 2017 // Instruction manual for the ILAE 2017 operational classification of seizure types. Zeitschrift fur Epileptologie , 31 (4) pp. 282-295. 10.1007/s10309-018-0217-7. Green open access
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Fisher, RS; Cross, JH; French, JA; Higurashi, N; Hirsch, E; Jansen, FE; Lagae, L; ... Zuberi, SM; + view all (2018) Operationale Klassifikation der Anfallsformen durch die Internationale Liga gegen Epilepsie: Positionspapier der ILAE-Klassifikations- und Terminologiekommission // Operational classification of seizure types by the International League Against Epilepsy: position paper of the ILAE Commission for Classification and Terminology. Zeitschrift fur Epileptologie , 31 (4) pp. 272-281. 10.1007/s10309-018-0216-8. Green open access
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G

Garavaglia, L; Pagliano, E; Baranello, G; Pittaccio, S; (2018) Why orthotic devices could be of help in the management of Movement Disorders in the young. Journal of NeuroEngineering and Rehabilitation , 15 , Article 118. 10.1186/s12984-018-0466-8. Green open access
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Gibbard, CR; Ren, J; Skuse, DH; Clayden, JD; Clark, CA; (2018) Structural connectivity of the amygdala in young adults with autism spectrum disorder. Human Brain Mapping , 39 (3) pp. 1270-1282. 10.1002/hbm.23915. Green open access
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Gopalan, V; Rennie, A; Robertson, F; Kanagarajah, L; Toolis, C; Bhate, S; Ganesan, V; (2018) Presentation, course, and outcome of postneonatal presentations of vein of Galen malformation: a large, single-institution case series. Developmental Medicine & Child Neurology , 60 (4) pp. 424-429. 10.1111/dmcn.13676. Green open access
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Gordon, AL; Nguyen, L; Panton, A; Mallick, AA; Ganesan, V; Wraige, E; McKevitt, C; (2018) Self-reported needs after pediatric stroke. European Journal of Paediatric Neurology , 22 (5) pp. 791-796. 10.1016/j.ejpn.2018.06.003. Green open access
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Gorman, KM; Meyer, E; Kurian, MA; (2018) Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B. [Review]. European Journal of Paediatric Neurology , 22 (2) pp. 245-256. 10.1016/j.ejpn.2017.11.009. Green open access
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Gregory, S; Crawford, H; Seunarine, K; Leavitt, B; Durr, A; Roos, RAC; Scahill, RI; ... Orth, M; + view all (2018) Natural biological variation of white matter microstructure is accentuated in Huntington's disease. Human Brain Mapping , 39 (9) pp. 3516-3527. 10.1002/hbm.24191. Green open access
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H

Habib, AM; Matsuyama, A; Okorokov, AL; Santana, S; Bras, JT; Aloisi, AM; Emery, EC; ... Cox, JJ; + view all (2018) A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. Brain , 141 (2) pp. 365-376. 10.1093/brain/awx326. Green open access
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Hales, PW; Smith, V; Dhanoa-Hayre, D; O'Hare, P; Mankad, K; d'Arco, F; Cooper, J; ... Clark, C; + view all (2018) Delineation of the visual pathway in paediatric optic pathway glioma patients using probabilistic tractography, and correlations with visual acuity. NeuroImage: Clinical , 17 pp. 541-548. 10.1016/j.nicl.2017.10.010. Green open access
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Hall, CL; Davies, EB; Andren, P; Murphy, T; Bennett, SD; Brown, BJ; Brown, S; ... Hollis, C; + view all (2018) Investigating a therapist-guided, parent-assisted remote digital behavioural intervention for tics in children and adolescents – ‘Online Remote Behavioural Intervention for Tics’ (ORBIT) Trial: protocol of an internal pilot study and single-blind randomised controlled trial. BMJ Open , 9 (1) , Article e027583. 10.1136/bmjopen-2018-027583. Green open access
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Harkness, W; (2018) Presidential address 2017 William Harkness FRCS October 10th 2017 Denver, Co USA: 2017—annus mirabilis, a global view of neurosurgery for children. Child's Nervous System , 34 (10) pp. 1817-1836. 10.1007/s00381-018-3931-6. Green open access
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Hayflick, SJ; Kurian, MA; Hogarth, P; (2018) Chapter 19 - Neurodegeneration with brain iron accumulation. Handbook of Clinical Neurology , 147 pp. 293-305. 10.1016/B978-0-444-63233-3.00019-1.

Hiller, M; Falzarano, MS; Garcia-Jimenez, I; Sardone, V; Verheul, RC; Popplewell, L; Anthony, K; ... Spitali, P; + view all (2018) A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures. PLoS One , 13 (10) , Article e0204485. 10.1371/journal.pone.0204485. Green open access
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Hood, A; Pulvers, K; (2018) Methodological and Statistical Challenges in the Study of How Anxiety and Stress Impair Working Memory Performance. SAGE Research Methods Cases in Psychology 10.4135/9781526449153. Green open access
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Hood, Anna; (2018) Biological Interventions to Improve Cognition in Children with Sickle Cell Disease. Doctoral thesis (Ph.D), Washington University in St. Louis. Green open access
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Howard, J; Slee, AE; Skene, S; Inusa, B; Kawadler, J; Downes, M; Gavlak, J; ... Liossi, C; + view all (2018) Overnight auto-adjusting continuous airway pressure + standard care compared with standard care alone in the prevention of morbidity in sickle cell disease phase II (POMS2b): study protocol for a randomised controlled trial. Trials , 19 (1) , Article 55. 10.1186/s13063-017-2419-0. Green open access
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Huang, J; Mis, MA; Tanaka, B; Adi, T; Estacion, M; Liu, S; Walker, S; ... Waxman, SG; + view all (2018) Atypical changes in DRG neuron excitability and complex pain phenotype associated with a Na(v)1.7 mutation that massively hyperpolarizes activation. Scientific Reports , 8 , Article 1811. 10.1038/s41598-018-20221-7. Green open access
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Hutchinson, JC; Kang, X; Shelmerdine, SC; Segers, V; Lombardi, CM; Cannie, MM; Sebire, NJ; ... Arthurs, OJ; + view all (2018) Postmortem microfocus computed tomography for early gestation fetuses: a validation study against conventional autopsy. American Journal of Obstetrics and Gynecology , 218 (4) 10.1016/j.ajog.2018.01.040. Green open access
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I

IJsselstijn, H; Breatnach, C; Hoskote, A; Greenough, A; Patel, N; Capolupo, I; Morini, F; ... CDH EURO Consortium Group; + view all (2018) Defining outcomes following congenital diaphragmatic hernia using standardised clinical assessment and management plan (SCAMP) methodology within the CDH EURO consortium. Pediatric Research , 84 pp. 181-189. 10.1038/s41390-018-0063-3. Green open access
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Ito, Y; Carss, KJ; Duarte, ST; Hartley, T; Keren, B; Kurian, MA; Marey, I; ... Revel-Vilk, S; + view all (2018) De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. American Journal of Human Genetics , 103 (1) pp. 144-153. 10.1016/j.ajhg.2018.06.001. Green open access
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J

Jacob, M; Saunders, DE; Kawadler, JM; Mussa, B; Murdoch, R; Lapidaire, W; Tluway, F; ... Kirkham, FJ; + view all (2018) Neuroimaging in patients with sickle cell anemia: capacity building in Africa. Blood Advances , 2 (Suppl 1) pp. 26-29. 10.1182/bloodadvances.2018GS112714. Green open access
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Jay, M; Thomas, B; Nandi, R; Howard, RF; (2018) On the Difficulties of Studying Pain Management in Individuals with Developmental Delay. [Letter]. Pain Medicine , 19 (7) pp. 1503-1504. 10.1093/pm/pny011. Green open access
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Jayakar, P; Jayakar, A; Libenson, M; Arzimanoglou, A; Rydenhag, B; Cross, JH; Bhatia, S; ... Gaillard, WD; + view all (2018) Epilepsy surgery near or in eloquent cortex in children—Practice patterns and recommendations for minimizing and reporting deficits. Epilepsia , 59 (8) pp. 1484-1491. 10.1111/epi.14510. Green open access
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Jin, B; Krishnan, B; Adler, S; Wagstyl, K; Hu, W; Jones, S; Najm, I; ... Wang, ZI; + view all (2018) Automated detection of focal cortical dysplasia type II with surface-based magnetic resonance imaging postprocessing and machine learning. Epilepsia , 59 (5) pp. 982-992. 10.1111/epi.14064. Green open access
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Jones, C; Atkinson, P; Cross, JH; Reilly, C; (2018) Knowledge of and attitudes towards epilepsy among teachers: A systematic review. Epilepsy & Behavior , 87 pp. 59-68. 10.1016/j.yebeh.2018.06.044. Green open access
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Jones, L; Laudiano-Dray, MP; Whitehead, K; Verriotis, M; Meek, J; Fitzgerald, M; Fabrizi, L; (2018) EEG, behavioural and physiological recordings following a painful procedure in human neonates. Scientific Data , 5 , Article 180248. 10.1038/sdata.2018.248. Green open access
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Jones, S; Moreland, NJ; Zancolli, M; Raynes, J; Loh, JMS; Smeesters, PR; Sriskandan, S; ... Goldblatt, D; + view all (2018) Development of an Opsonophagocytic Killing Assay for Group A Streptococcus. Vaccine , 36 (26) pp. 3756-3763. 10.1016/j.vaccine.2018.05.056. Green open access
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Jones, V; Wykes, V; Cohen, N; Thompson, D; Jacques, TS; (2018) The Pathology of Lumbosacral Lipomas: Macroscopic and Microscopic Disparity Have Implications for Embryogenesis and Mode of Clinical Deterioration. Histopathology , 72 (7) pp. 1136-1144. 10.1111/his.13469. Green open access
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Jordan, LC; Williams, DOR; Rodeghier, MJ; Covert, B; Ponisio, MR; Casella, JF; McKinstry, RC; ... DeBaun, MR; + view all (2018) Children with sickle cell anemia with normal TCD and without silent infarcts have a low incidence of new strokes. American Journal of Hematology , 93 (6) pp. 760-768. 10.1002/ajh.25085. Green open access
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Shelmerdine, SC; Simcock, IC; Hutchinson, JC; Aughwane, R; Melbourne, A; Nikitichev, DI; Ong, J-L; ... Arthurs, OJ; + view all (2018) 3D printing from microfocus computed tomography (micro-CT) in human specimens: education and future implications. British Journal of Radiology , 91 (1088) , Article 20180306. 10.1259/bjr.20180306. Green open access
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Sidlauskaite, E; Gibson, JW; Megson, IL; Whitfield, PD; Tovmasyan, A; Batinic-Haberle, I; Murphy, MP; ... Cobley, JN; + view all (2018) Mitochondrial ROS cause motor deficits induced by synaptic inactivity: Implications for synapse pruning. Redox Biology , 16 pp. 344-351. 10.1016/j.redox.2018.03.012. Green open access
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Silveira-Moriyama, L; Kovac, S; Kurian, MA; Houlden, H; Lees, AJ; Walker, MC; Roze, E; ... Warner, TT; + view all (2018) Phenotypes, genotypes, and the management of paroxysmal movement disorders. Development Medicine and Child Neurology , 60 (6) pp. 559-565. 10.1111/dmcn.13744. Green open access
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Silwal, A; Pitt, M; Phadke, R; Mankad, K; Davison, JE; Rossor, A; DeVile, C; ... Munot, P; + view all (2018) Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy. Neuromuscular Disorders , 28 (9) pp. 757-765. 10.1016/j.nmd.2018.06.001. Green open access
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Slatter, MA; Rao, K; Abd Hamid, IJ; Nademi, Z; Chiesa, R; Elfeky, R; Pearce, MS; ... Veys, P; + view all (2018) Treosulfan, Fludarabine Conditioning for HSCT in Children with Primary Immunodeficiency: UK Experience. Biology of Blood and Marrow Transplantation , 24 (3) pp. 529-536. 10.1016/j.bbmt.2017.11.009. Green open access
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Slee, A; Stotesbury, H; Kawadler, J; Koelbel, M; Chakravorty, S; Pelidis, M; Thein, SL; ... Kirkham, F; + view all (2018) Prevention of Morbidity in Sickle Cell Disease Phase 2 (POMS 2b pediatric): Improvement of Cognition in children with Sickle Cell Disease with Auto-adjusting Continuous Positive Airways Pressure: a single-blind, randomized, controlled phase II trial. Presented at: 58th Annual Scientific Meeting of the British-Society-for-Haematology, Liverpool, UK. Green open access
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Smith, C; Kawadler, J; Kirkham, F; Hogan, A; Telfer, P; Stotesbury, H; (2018) Residential proximity to major roads and cognitive function in asymptomatic children with Sickle Cell Anaemia: a longitudinal study. Presented at: 58th Annual Scientific Meeting of the British-Society-for-Haematology, Liverpool, UK. Green open access
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Smith, Martin; Kurian, Manju; (2018) Neurological gait disorders in childhood. [Review]. Paediatrics and Child Health , 28 (10) pp. 454-458. 10.1016/j.paed.2018.07.006. Green open access
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Spitali, P; Hettne, K; Tsonaka, R; Charrout, M; van den Bergen, J; Koeks, Z; Kan, HE; ... Aartsma-Rus, A; + view all (2018) Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies. Journal of Cachexia, Sarcopenia and Muscle , 9 (4) pp. 715-726. 10.1002/jcsm.12304. Green open access
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Stacey, A; Toolis, C; Ganesan, V; (2018) Rates and Risk Factors for Arterial Ischemic Stroke Recurrence in Children. Stroke , 49 (4) pp. 842-847. 10.1161/STROKEAHA.117.020159. Green open access
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Stone, TJ; Keeley, A; Virasami, A; Harkness, W; Tisdall, M; Izquierdo Delgado, E; Gutteridge, A; ... Jacques, TS; + view all (2018) Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours. Acta Neuropathologica , 135 (1) pp. 115-129. 10.1007/s00401-017-1773-z. Green open access
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Stotesbury, H; Hales, P; Kirkham, F; (2018) The promise of non-invasive cerebral hemodynamic assessment in Sickle Cell Anemia. Neurology Journal , 90 (13) pp. 585-586. 10.1212/WNL.0000000000005236.

Stotesbury, H; Kirkham, F; Koelbel, M; Balfour, P; Clayden, J; Sahota, S; Sarkaria, S; ... Kawadler, J; + view all (2018) White Matter Integrity and Processing Speed in Sickle Cell Anemia. Neurology , 90 (23) e2042-e2050. 10.1212/WNL.0000000000005644. Green open access
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Strasser, L; Downes, M; Kung, J; Cross, JH; De Haan, M; (2018) Prevalence and risk factors for autism spectrum disorder in epilepsy: a systematic review and meta-analysis. Developmental Medicine and Child Neurology , 60 (1) pp. 19-29. 10.1111/dmcn.13598. Green open access
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Stricker, PA; de Graaff, JC; Vutskits, L; Muhly, WT; Xu, T; Torborg, AM; Jiang, Y; ... Pediatric Perioperative Outcomes Group, .; + view all (2018) Pediatric perioperative outcomes group: Defining core outcomes for pediatric anesthesia and perioperative medicine. Pediatric Anesthesia , 28 (4) pp. 314-315. 10.1111/pan.13354. Green open access
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Suman, M; Sharpe, JA; Bentham, RB; Kotiadis, VN; Menegollo, M; Pignataro, V; Molgó, J; ... Szabadkai, G; + view all (2018) Inositol Trisphosphate Receptor Mediated Ca2+ Signalling Stimulates Mitochondrial Function and Gene Expression in Core Myopathy Patients. Human Molecular Genetics , 27 (13) pp. 2367-2382. 10.1093/hmg/ddy149. Green open access
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T

TAN, TJ; Garcia Canadilla, P; Bjinens, B; Dejea, H; Bonnin, A; Tran, V; Arthurs, O; ... Cook, A; + view all (2018) Using micro-CT and X-PCI to visualize coronary morphology and ventriculo-coronary arterial connections in the setting of Pulmonary Atresia with Intact Ventricular Septum. Presented at: UK Medical Careers Conference 2018, London, UK. Green open access
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Tewari, S; Renney, G; Brewin, J; Gardner, K; Kirkham, F; Inusa, B; Barrett, JE; ... Reese, DC; + view all (2018) Proteomic analysis of plasma from children with sickle cell anemia and silent cerebral infarction. Haematologica , 103 (7) pp. 1136-1142. 10.3324/haematol.2018.187815. Green open access
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Tho-Calvi, S; Thompson, D; Saunders, D; Agrawal, S; Basu, A; Chitre, M; Chow, G; ... Ganesan, V; + view all (2018) Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya. Neurology , 90 (9) e763-e767. 10.1212/WNL.0000000000005026. Green open access
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Thyoka, M; Adekunle, O; Pilkington, C; Walters, S; Arthurs, OJ; Humphries, P; Johnson, K; ... Offiah, AC; + view all (2018) Introduction of a novel magnetic resonance imaging-based scoring system for assessing disease activity in children with juvenile dermatomyositis. Rheumatology , 57 (9) pp. 1661-1668. 10.1093/rheumatology/key144. Green open access
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Tierney, TM; Holmes, N; Meyer, SS; Boto, E; Roberts, G; Leggett, J; Buck, S; ... Barnes, GR; + view all (2018) Cognitive neuroscience using wearable magnetometer arrays: Non-invasive assessment of language function. NeuroImage , 181 pp. 513-520. 10.1016/j.neuroimage.2018.07.035. Green open access
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Tiziano, FD; Lomastro, R; Abiusi, E; Pasanisi, MB; Di Pietro, L; Fiori, S; Baranello, G; ... Morandi, L; + view all (2018) Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol. Journal of Medical Genetics 10.1136/jmedgenet-2018-105482. (In press). Green open access
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Toescu, SM; Hales, PW; Aquilina, K; Clark, CA; (2018) Quantitative MRI in post-operative paediatric cerebellar mutism syndrome. European Journal of Radiology , 108 pp. 43-51. 10.1016/j.ejrad.2018.09.007. Green open access
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Toescu, SM; Hettige, S; Phipps, K; Smith, RJP; Haffenden, V; Clark, C; Hayward, R; ... Aquilina, K; + view all (2018) Post-operative paediatric cerebellar mutism syndrome: time to move beyond structural MRI. Child's Nervous System , 34 (11) pp. 2249-2257. 10.1007/s00381-018-3867-x. Green open access
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Toescu, SM; James, G; Phipps, K; Jeelani, O; Thompson, D; Hayward, R; Aquilina, K; (2018) Intracranial Neoplasms in the First Year of Life: Results of a Third Cohort of Patients From a Single Institution. Neurosurgery , 84 (3) pp. 636-646. 10.1093/neuros/nyy081. Green open access
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Tur, C; Eshaghi, A; Altmann, DR; Jenkins, TM; Prados, F; Grussu, F; Charalambous, T; ... Toosy, AT; + view all (2018) Structural cortical network reorganization associated with early conversion to multiple sclerosis. Scientific Reports , 8 , Article 10715. 10.1038/s41598-018-29017-1. Green open access
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Twomey, DM; Wrigley, C; Ahearne, C; Murphy, R; De Haan, M; Marlow, N; Murray, DM; (2018) Feasibility of using touch screen technology for early cognitive assessment in children. Archives of Disease in Childhood , 103 (9) pp. 853-858. 10.1136/archdischild-2017-314010. Green open access
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Tye, C; Thomas, LE; Sampson, JR; Lewis, J; O'Callaghan, F; Yates, JRW; Bolton, PF; (2018) Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms? Epilepsia Open , 3 (2) pp. 276-280. 10.1002/epi4.12111. Green open access
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Ullmann, U; D’Argenzio, L; Mathur, S; Whyte, T; Quinlivan, R; Longman, C; Farrugia, ME; ... Muntoni, F; + view all (2018) ECEL1 gene related contractural syndrome: long-term follow-up and update on clinical and pathological aspects. Neuromuscular Disorders , 28 (9) pp. 741-749. 10.1016/j.nmd.2018.05.012. Green open access
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Unni, MNM; Elfeky, R; Rao, K; Nademi, Z; Chiesa, R; Amrolia, P; Skinner, R; ... Slatter, MA; + view all (2018) Non-posttransplant lymphoproliferative disorder malignancy after hematopoietic stem cell transplantation in patients with primary immunodeficiency: UK experience. Journal of Allergy and Clinical Immunology , 141 (6) 2319-2321.e1. 10.1016/j.jaci.2018.02.038. Green open access
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Urciuolo, A; Urbani, L; Perin, S; Maghsoudlou, PL; Scottoni, F; Gjinovci, A; Collins-Hooper, H; ... De Coppi, P; + view all (2018) Decellularised skeletal muscles allow functional muscle regeneration by promoting host cell migration. Scientific Reports , 8 , Article 8398. 10.1038/s41598-018-26371-y. Green open access
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V

van Setten, J; Brody, JA; Jamshidi, Y; Swenson, BR; Butler, AM; Campbell, H; Del Greco, FM; ... Sotoodehnia, N; + view all (2018) PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. Nature Communications , 9 (1) , Article 2904. 10.1038/s41467-018-04766-9. Green open access
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Verbruggen, SW; Kainz, B; Shelmerdine, SC; Arthurs, OJ; Hajnal, JV; Rutherford, MA; Phillips, ATM; (2018) Altered biomechanical stimulation of the developing hip joint in presence of hip dysplasia risk factors. Journal of Biomechanics , 78 pp. 1-9. 10.1016/j.jbiomech.2018.07.016. Green open access
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Verbruggen, SW; Kainz, B; Shelmerdine, SC; Hajnal, JV; Rutherford, MA; Arthurs, OJ; Phillips, ATM; (2018) Stresses and strains on the human fetal skeleton during development. Interface , 15 (138) , Article 20170593. 10.1098/rsif.2017.0593. Green open access
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Verity, C; Winstone, AM; Will, R; Powell, A; Baxter, P; de Sousa, C; Gissen, P; ... Zuberi, S; + view all (2018) Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies? Archives of Disease in Childhood 10.1136/archdischild-2018-315458. (In press). Green open access
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Verriotis, M; Jones, L; Whitehead, K; Laudiano-Dray, M; Panayotidis, I; Patel, H; Meek, J; ... Fitzgerald, M; + view all (2018) The distribution of pain activity across the human neonatal brain is sex dependent. NeuroImage , 178 pp. 69-77. 10.1016/j.neuroimage.2018.05.030. Green open access
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Vicari, S; Piccini, G; Mercuri, E; Battini, R; Chieffo, D; Bulgheroni, S; Pecini, C; ... Alfieri, P; + view all (2018) Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment? PLoS One , 13 (1) , Article e0191164. 10.1371/journal.pone.0191164. Green open access
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Vigevano, F; Kirkham, FJ; Wilken, B; Raspall-Chaure, M; Grebla, R; Lee, D; Werner-Kiechle, T; (2018) Effect of rescue medication on seizure duration in non-institutionalized children with epilepsy. European Journal of Paediatric Neurology , 22 (1) pp. 56-63. 10.1016/j.ejpn.2017.07.017. Green open access
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Villaluz, MM; Lomax, LB; Jadhav, T; Cross, JH; Scheffer, IE; (2018) The ketogenic diet is effective for refractory epilepsy associated with acquired structural epileptic encephalopathy. Developmental Medicine and Child Neurology , 60 (7) pp. 718-723. 10.1111/dmcn.13687. Green open access
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Walker, SM; Melbourne, A; O'Reilly, H; Beckmann, J; Eaton-Rosen, Z; Ourselin, S; Marlow, N; (2018) Somatosensory function and pain in extremely preterm young adults from the UK EPICure cohort: sex-dependent differences and impact of neonatal surgery. British Journal of Anaesthesia 10.1016/j.bja.2018.03.035. (In press). Green open access
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Walker, SM; Moriarty, O; Harrington, L; Beggs, S; (2018) Opioid analgesia and the somatosensory memory of neonatal surgical injury in the adult rat. British Journal of Anaesthesia , 121 (1) pp. 314-324. 10.1016/j.bja.2017.11.111. Green open access
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Walker, SM; O'Reilly, H; Beckmann, J; Marlow, N; EPICure@19 Study Group, .; (2018) Conditioned pain modulation identifies altered sensitivity in extremely preterm young adult males and females. British Journal of Anaesthesia , 121 (3) pp. 636-646. 10.1016/j.bja.2018.05.066. Green open access
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Wasala, NB; Shin, J-H; Lai, Y; Yue, Y; Montanaro, F; Duan, D; (2018) Cardiac-Specific Expression of ΔH2-R15 Mini-Dystrophin Normalized All Electrocardiogram Abnormalities and the End-Diastolic Volume in a 23-Month-Old Mouse Model of Duchenne Dilated Cardiomyopathy. Human Gene Therapy , 29 (7) pp. 737-748. 10.1089/hum.2017.144. Green open access
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Webb, EA; Elliott, L; Carlin, D; Wilson, M; Hall, K; Netherton, J; Reed, J; ... Wood, AG; + view all (2018) Quantitative MRI brain in congenital adrenal hyperplasia: in vivo assessment of the cognitive and structural impact of steroid hormones. The Journal of Clinical Endocrinology & Metabolism , 103 (4) pp. 1330-1341. 10.1210/jc.2017-01481. Green open access
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Webb, K; Butler, G; Ciurtin, C; Peckham, H; Radziszewska, A; Wedderburn, L; Ioannou, J; (2018) Pubertal females produce an enhanced interferon-alpha anti-viral response compared to males, which is associated with X chromosome number, and not sex hormones. Presented at: 57th European Society of Paediatric Endocrinology Congress (ESPE), Athens, Greece. Green open access
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Webb, K; Butler, G; Ciurtin, C; Peckham, H; Radziszewska, A; Wedderburn, L; Ioannou, J; (2018) Sex Differences in Autoimmune Disease: Testosterone is Associated with a Decrease in Expression of Key Anti-viral Genes During Puberty, Which may Decrease the Risk of Autoimmunity in Males. Presented at: 57th European Society of Paediatric Endocrinology Congress (ESPE), Athens, Greece. Green open access
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Webb, K; Butler, G; Ciurtin, C; Peckham, H; Radziszewska, A; Wedderburn, L; Ioannou, Y; (2018) Juvenile systemic lupus erythematosus with a baseline high interferon signature associates with increased immune cell TLR7 expression and enhanced TLR7 dependent IFNα production. Presented at: 57th European Society of Paediatric Endocrinology Congress (ESPE), Athens, Greece. Green open access
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West, TO; Berthouze, L; Halliday, DM; Litvak, V; Sharott, A; Magill, PJ; Farmer, SF; (2018) Propagation of Beta/Gamma Rhythms in the Cortico-Basal Ganglia Circuits of the Parkinsonian Rat. Journal of Neurophysiology , 119 (5) pp. 1608-1628. 10.1152/jn.00629.2017. Green open access
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Whitehead, K; Laudiano-Dray, P; Pressler, R; Meek, J; Fabrizi, L; (2018) Somatosensory-evoked delta brush activity in very pre-term infants. Presented at: 31st International Congress of Clinical Neurophysiology (ICCN) of the IFCN, Washington, DC, USA. Green open access
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Willen, SM; Cohen, R; Rodeghier, M; Kirkham, F; Redline, SS; Rosen, C; Kirkby, J; (2018) Age is the only predictor of small decrease in lung function in children with sickle cell anemia. American Journal of Hematology , 93 (3) pp. 408-415. 10.1002/ajh.25003. Green open access
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Willen, SM; Rodeghier, M; Strunk, RC; Bacharier, LB; Rosen, CL; Kirkham, FJ; DeBaun, MR; (2018) Aeroallergen sensitization predicts acute chest syndrome in children with sickle cell anaemia. British Journal of Haematology , 180 (4) pp. 571-577. 10.1111/bjh.15076. Green open access
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Willoughby, J; Duff-Farrier, C; Desurkar, A; Kurian, M; Raghavan, A; DDD Study; Balasubramanian, M; (2018) Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient. American Journal of Medical Genetics Part A , 176 (5) pp. 1049-1054. 10.1002/ajmg.a.38656. Green open access
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Wilson, BA; Vargha-Khadem, F; Florschutz, G; (2018) Alexander's disease and the story of Louise. Neuropsychological Rehabilitation , 28 (2) pp. 199-207. 10.1080/09602011.2016.1222945. Green open access
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Wray, J; Brown, KL; Ridout, D; Lakhanpaul, M; Smith, L; Scarisbrick, A; O'Curry, S; (2018) Development and preliminary testing of the Brief Developmental Assessment: an early recognition tool for children with heart disease. Cardiology in the Young , 28 (4) pp. 582-591. 10.1017/S1047951117002918. Green open access
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Zagaglia, S; Selch, C; Nisevic, JR; Mei, D; Michalak, Z; Hernandez-Hernandez, L; Krithika, S; ... Sisodiya, SM; + view all (2018) Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. Neurology , 91 e1-e11. 10.1212/WNL.0000000000006567. Green open access
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Zaharieva, IT; Sarkozy, A; Munot, P; Manzur, A; O'Grady, G; Rendu, J; Malfatti, E; ... Muntoni, F; + view all (2018) STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Human Mutation , 39 (12) pp. 1980-1994. 10.1002/humu.23635. Green open access
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Zhou, H; Muntoni, F; (2018) Morpholino-Mediated Exon Inclusion for SMA. Exon Skipping and Inclusion Therapies , 1828 pp. 467-477. 10.1007/978-1-4939-8651-4_29. Green open access
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This list was generated on Wed May 8 17:58:00 2024 BST.