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Article

Aartsma-Rus, A; Morgan, J; Lonkar, P; Neubert, H; Owens, J; Binks, M; Montolio, M; ... Arechavala-Gomeza, V; + view all (2019) Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology. Journal of Neuromuscular Diseases 10.3233/JND-180357. (In press). Green open access
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Abdel-Mannan, O; D'Argenzio, L; Pitt, M; D'Arco, F; Bhate, S; Hacohen, Y; Kaliakatsos, M; (2019) Two Cases of Guillain-Barré Syndrome Variants Presenting With Dysautonomia. Child Neurology Open , 6 (1-5) 10.1177/2329048X19856778. Green open access
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Amin, S; Lux, A; O'Callaghan, F; (2019) The journey of metformin from glycaemic control to mTOR inhibition and the suppression of tumour growth. British Journal of Clinical Pharmacology , 85 (1) pp. 37-46. 10.1111/bcp.13780. Green open access
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Amin, S; Mallick, AA; Lux, A; O'Callaghan, F; (2019) Quality of life in patients with Tuberous Sclerosis Complex (TSC). European Journal of Paediatric Neurology , 23 (6) pp. 801-807. 10.1016/j.ejpn.2019.09.006. Green open access
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Angius, A; Uva, P; Oppo, M; Buers, I; Persico, I; Onano, S; Cuccuru, G; ... Crisponi, L; + view all (2019) Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses. Clinical Genetics , 95 (5) pp. 607-614. 10.1111/cge.13532. Green open access
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Annear, NMP; Appleton, RE; Bassi, Z; Bhatt, R; Bolton, PF; Crawford, P; Crowe, A; ... Kingswood, JC; + view all (2019) Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care. Frontiers in Neurology , 10 , Article 1116. 10.3389/fneur.2019.01116. Green open access
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Apps, J; Hutchinson, C; Shelmerdine, S; Virasami, A; Winter, E; Jacques, T; Martinez-Barbera, J-P; ... Czech, T; + view all (2019) Learning from cases: Analysis of two cases of craniopharyngioma from the 19th to the 21st centuries. [version 1; peer review: 2 approved]. F1000Research , 8 , Article 1544. 10.12688/f1000research.19626.1. Green open access
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Ardicli, D; Sarkozy, A; Zaharieva, I; Deshpande, C; Bodi, I; Siddiqui, A; U-King-Im, JM; ... Muntoni, F; + view all (2019) A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement. Neuromuscular Disorders , 29 (6) pp. 448-455. 10.1016/j.nmd.2019.03.011. Green open access
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Argyropoulos, GPD; Watkins, KE; Belton- Pagnamenta, E; Liégeois, FJ; Saleem, KS; Mishkin, M; Vargha-Khadem, F; (2019) Neocerebellar Crus I abnormalities associated with a speech and language disorder due to a mutation in FOXP2. The Cerebellum 10.1007/s12311-018-0989-3. (In press). Green open access
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Arthur, L; Keen, K; Verriotis, M; Peters, J; Kelly, A; Howard, RF; Dib-Hajj, SD; ... Walker, SM; + view all (2019) Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series. The Journal of Pediatrics , 206 217-224.e9. 10.1016/j.jpeds.2018.10.024. Green open access
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Aughwane, R; Schaaf, C; Hutchinson, JC; Virasami, A; Zuluaga, MA; Sebire, N; Arthurs, OJ; ... David, AL; + view all (2019) Micro-CT and histological investigation of the spatial pattern of feto-placental vascular density. Placenta 10.1016/j.placenta.2019.09.014. (In press). Green open access
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Auvin, S; Avbersek, A; Bast, T; Chiron, C; Guerrini, R; Kaminski, RM; Lagae, L; ... Cross, JH; + view all (2019) Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions. Drugs , 79 (18) pp. 1917-1935. 10.1007/s40265-019-01223-9. Green open access
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Bachmann, C; Noreen, F; Voermans, NC; Schar, PL; Vissing, J; Fock, JM; Bulk, S; ... Treves, S; + view all (2019) Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. Human Mutation , 40 (7) pp. 962-974. 10.1002/humu.23745. Green open access
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Baranello, G; Vai, S; Broggi, F; Masson, R; Arnoldi, MT; Zanin, R; Mastella, C; (2019) Evolution of bone mineral density, bone metabolism and fragility fractures in Spinal Muscular Atrophy (SMA) types 2 and 3. Neuromuscular Disorders , 29 (7) pp. 525-532. 10.1016/j.nmd.2019.06.001. Green open access
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Barona, M; Brown, M; Clark, C; Frangou, S; White, T; Micali, N; (2019) White matter alterations in anorexia nervosa: Evidence from a voxel-based meta-analysis. Neuroscience & Biobehavioral Reviews , 100 pp. 285-295. 10.1016/j.neubiorev.2019.03.002. Green open access
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Baruteau, J; Khalil, Y; Grunewald, S; Zancolli, M; Chakrapani, A; Cleary, M; Davison, J; ... Mills, P; + view all (2019) Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment. Metabolites , 9 (11) , Article 275. 10.3390/metabo9110275. Green open access
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Bathelt, J; Dale, NJ; de Haan, M; Clark, CA; (2019) Brain structure in children with congenital visual disorders and visual impairment. Developmental Medicine and Child Neurology 10.1111/dmcn.14322. (In press). Green open access
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Bathelt, J; de Haan, M; Dale, NJ; (2019) Adaptive behaviour and quality of life in school-age children with congenital visual disorders and different levels of visual impairment. Research in Developmental Disabilities , 85 pp. 154-162. 10.1016/j.ridd.2018.12.003. Green open access
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Bertoli, S; Foppiani, A; De Amicis, R; Leone, A; Mastella, C; Bassano, M; Giaquinto, E; ... Battezzati, A; + view all (2019) Anthropometric measurement standardization for a multicenter nutrition survey in children with spinal muscular atrophy. European Journal of Clinical Nutrition 10.1038/s41430-019-0392-2. (In press). Green open access
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Bigoni, S; Neri, M; Scotton, C; Farina, R; Sabatelli, P; Jiang, C; Zhang, J; ... Ferlini, A; + view all (2019) Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family. Frontiers in Genetics , 9 , Article 723. 10.3389/fgene.2018.00723. Green open access
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Bolduc, V; Foley, AR; Solomon-Degefa, H; Sarathy, A; Donkervoort, S; Hu, Y; Chen, GS; ... Bönnemann, CG; + view all (2019) A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight , 4 (6) 10.1172/jci.insight.124403. Green open access
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Brayson, D; Frigiola, A; Clark, JE; (2019) Dynamic heart rate response to multi-day unsupported ultra-endurance cycle racing: a case report. Experimental Physiology , 104 (2) pp. 174-179. 10.1113/EP087341. Green open access
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Brayson, D; Frustaci, A; Verardo, R; Chimenti, C; Russo, MA; Hayward, R; Ahmad, SM; ... Shanahan, CM; + view all (2019) Prelamin A mediates inflammation in dilated and HIV associated cardiomyopathies. JCI Insight , 4 (22) , Article e126315. 10.1172/jci.insight.126315. Green open access
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Brewin, J; Tewari, S; Menzel, S; Kirkham, F; Inusa, B; Renney, G; Ward, M; (2019) The effects of hydroxycarbamide on the plasma proteome of children with sickle cell anaemia. British Journal of Haematology , 186 (6) pp. 879-886. 10.1111/bjh.15996. Green open access
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Brogna, C; Coratti, G; Pane, M; Ricotti, V; Messina, S; D'Amico, A; Bruno, C; ... on behalf on the International DMD group, .; + view all (2019) Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53. PLoS One , 14 (6) , Article e0218683. 10.1371/journal.pone.0218683. Green open access
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Burgess, R; Wang, S; McTague, A; Boysen, KE; Yang, X; Zeng, Q; Myers, KA; ... Scheffer, IE; + view all (2019) Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. Annals of Neurology , 86 (6) pp. 821-831. 10.1002/ana.25619. Green open access
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Cacucci, F; Vargha-Khadem, F; (2019) Contributions of nonhuman primate research to understanding the consequences of human brain injury during development. Proceedings of the National Academy of Sciences of the United States of America , 116 (52) pp. 26204-26209. 10.1073/pnas.1912952116. Green open access
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Carecchio, M; Invernizzi, F; Gonzàlez-Latapi, P; Panteghini, C; Zorzi, G; Romito, L; Leuzzi, V; ... Nardocci, N; + view all (2019) Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. Movement Disorders 10.1002/mds.27771. (In press).

Chalkiadis, G; Goobie, S; Walker, S; (2019) Are opioids pediatric anesthesiologists' sword of Damocles? With great power comes great responsibility and risk. Pediatric Anesthesia , 29 (6) pp. 544-546. 10.1111/pan.13659. Green open access
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Charalambous, T; Tur, C; Prados, F; Kanber, B; Chard, DT; Ourselin, S; Clayden, JD; ... Toosy, AT; + view all (2019) Structural network disruption markers explain disability in multiple sclerosis. Journal of Neurology, Neurosurgery and Psychiatry , 90 (2) pp. 219-226. 10.1136/jnnp-2018-318440. Green open access
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Clayden, J; Thomas, D; Kraskov, A; (2019) Tractography-based parcellation does not provide strong evidence of anatomical organisation within the thalamus. NeuroImage , 199 pp. 418-426. 10.1016/j.neuroimage.2019.06.019. Green open access
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Cooper, HE; Kaden, E; Halliday, LF; Bamiou, D-E; Mankad, K; Peters, C; Clark, CA; (2019) White matter microstructural abnormalities in children with severe congenital hypothyroidism. NeuroImage: Clinical , 24 , Article 101980. 10.1016/j.nicl.2019.101980. Green open access
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Coppola, A; Cellini, E; Stamberger, H; Saarentaus, E; Cetica, V; Lal, D; Djémié, T; ... EpiCNV Consortium, .; + view all (2019) Diagnostic implications of genetic copy number variation in epilepsy plus. Epilepsia 10.1111/epi.14683. (In press). Green open access
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Corbet Burcher, G; Liang, H; Lancaster, R; Cross, JH; Tisdall, M; Varadkar, S; Spoudeas, HA; ... Heyman, I; + view all (2019) Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series. Developmental Medicine and Child Neurology , 61 (12) pp. 1377-1385. 10.1111/dmcn.14241. Green open access
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Corcoles-Parada, M; Gimenez-Mateo, R; Serrano-del-Pueblo, V; Lopez, L; Perez-Hernandez, E; Mansilla, F; Martinez, A; ... Munoz-Lopez, M; + view all (2019) Born Too Early and Too Small: Higher Order Cognitive Function and Brain at Risk at Ages 8-16. Frontiers in Psychology , 10 , Article 1942. 10.3389/fpsyg.2019.01942. Green open access
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Cross, JH; Caraballo, RH; Nabbout, R; Vigevano, F; Guerrini, R; Lagae, L; (2019) Dravet syndrome: Treatment options and management of prolonged seizures. Epilepsia , 60 (S3) S39-S48. 10.1111/epi.16334. Green open access
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Darras, BT; Crawford, TO; Finkel, RS; Mercuri, E; De Vivo, DC; Oskoui, M; Tizzano, EF; ... Sumner, CJ; + view all (2019) Neurofilament as a potential biomarker for spinal muscular atrophy. Annals of Clinical and Translational Neurology , 6 (5) pp. 932-944. 10.1002/acn3.779. Green open access
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Deguise, M-O; Baranello, G; Mastella, C; Beauvais, A; Michaud, J; Leone, A; De Amicis, R; ... Kothary, R; + view all (2019) Abnormal fatty acid metabolism is a core component of spinal muscular atrophy. Annals of Clinical and Translational Neurology , 6 (8) pp. 1519-1532. 10.1002/acn3.50855. Green open access
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Demarest, S; Pestana-Knight, EM; Olson, HE; Downs, J; Marsh, ED; Kaufmann, WE; Partridge, C-A; ... Benke, TA; + view all (2019) Severity Assessment in CDKL5 Deficiency Disorder. Pediatric Neurology , 97 pp. 38-42. 10.1016/j.pediatrneurol.2019.03.017. Green open access
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deVeber, G; Kirkham, F; Shannon, K; Brandao, L; Straeter, R; Kenet, G; Clausnizer, H; ... Nowak-Goettl, U; + view all (2019) Recurrent Stroke: The Role Of Thrombophilia In A Large International Pediatric Stroke Population. [Corrigendum]. Haematologica , 104 (10) p. 2116. 10.3324/haematol.2019.234666. Green open access
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deVeber, G; Kirkham, F; Shannon, K; Brandão, L; Sträter, R; Kenet, G; Clausnizer, H; ... Nowak-Göttl, U; + view all (2019) Recurrent stroke: the role of thrombophilia in a large international pediatric stroke population. Haematologica , 104 (8) pp. 1676-1681. 10.3324/haematol.2018.211433. Green open access
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Dion, C; Roche, S; Laberthonnière, C; Broucqsault, N; Mariot, V; Xue, S; Gurzau, AD; ... Magdinier, F; + view all (2019) SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite. Nucleic Acids Research , 47 (6) pp. 2822-2839. 10.1093/nar/gkz005. Green open access
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Downes, M; de Haan, M; Telfer, PT; Kirkham, FJ; (2019) The Role of Family Functioning in the Development of Executive Functions in Preschool Children with Sickle Cell Anemia. Developmental Neuropsychology , 44 (6) pp. 452-467. 10.1080/87565641.2019.1660779. Green open access
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Downes, M; Kirkham, FJ; Berg, C; Telfer, P; De Haan, M; (2019) Executive performance on the preschool executive task assessment in children with sickle cell anemia and matched controls. Child Neuropsychology , 25 (2) pp. 278-285. 10.1080/09297049.2018.1491962. Green open access
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Edlmann, E; Thelin, EP; Caldwell, K; Turner, C; Whitfield, P; Bulters, D; Holton, P; ... Dex-CSDH trial collaborative and BNTRC collaborative.; + view all (2019) Dex-CSDH randomised, placebo-controlled trial of dexamethasone for chronic subdural haematoma: report of the internal pilot phase. Scientific Reports , 9 (1) , Article 5885. 10.1038/s41598-019-42087-z. Green open access
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Elbaz, M; Ruiz, A; Eckhardt, J; Pelczar, P; Muntoni, F; Boncompagni, S; Treves, S; (2019) Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres. Human Molecular Genetics , 28 (11) pp. 1872-1884. 10.1093/hmg/ddz025. Green open access
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Eleftheriou, D; Moraitis, E; Hong, Y; Turmaine, M; Venturini, C; Ganesan, V; Breuer, J; ... Brogan, P; + view all (2019) Microparticle-mediated VZV propagation and endothelial activation: Mechanism of VZV vasculopathy. Neurology 10.1212/WNL.0000000000008885. (In press). Green open access
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Elfeky, R; Shah, RM; Unni, MN; Ottaviano, G; Rao, K; Chiesa, R; Amrolia, P; ... Veys, P; + view all (2019) New graft manipulation strategies improved outcome of mismatched stem cell transplantation in children with primary immunodeficiencies. Journal of Allergy and Clinical Immunology , 144 (1) pp. 280-293. 10.1016/j.jaci.2019.01.030. Green open access
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Elward, RL; Dzieciol, AM; Vargha-Khadem, F; (2019) Little evidence for fast mapping in adults with developmental amnesia. Cognitive Neuroscience , 10 (4) pp. 215-217. 10.1080/17588928.2019.1593123. Green open access
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Farrell, AT; Panepinto, J; Carroll, CP; Darbari, DS; Desai, AA; King, AA; Adams, RJ; ... Zempsky, WT; + view all (2019) End points for sickle cell disease clinical trials: patient-reported outcomes, pain, and the brain. Blood Advances , 3 (23) pp. 3982-4001. 10.1182/bloodadvances.2019000882. Green open access
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Ferrini, A; Stevens, MM; Sattler, S; Rosenthal, N; (2019) Toward Regeneration of the Heart: Bioengineering Strategies for Immunomodulation. Frontiers in Cardiovascular Medicine , 6 , Article 26. 10.3389/fcvm.2019.00026. Green open access
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Flower, M; Lomeikaite, V; Ciosi, M; Cumming, S; Morales, F; Lo, K; Hensman Moss, D; ... Tabrizi, SJ; + view all (2019) MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1. Brain , 142 (7) pp. 1876-1886. 10.1093/brain/awz115. Green open access
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Foley, E; Cross, JH; Thai, NJ; Walsh, AR; Bill, P; Furlong, P; Wood, AG; ... Seri, S; + view all (2019) MEG Assessment of Expressive Language in Children Evaluated for Epilepsy Surgery. Brain Topography 10.1007/s10548-019-00703-1. (In press). Green open access
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Fullerton, HJ; Ganesan, V; Jordan, LC; Kirton, A; Mackay, MT; Steinlin, M; (2019) Building a Career as a Pediatric Stroke Neurologist. Stroke , 50 (10) e287-e289. 10.1161/STROKEAHA.119.026187. Green open access
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Gagunashvili, AN; Ocaka, L; Kelberman, D; Munot, P; Bacchelli, C; Beales, PL; Ganesan, V; (2019) Novel missense variants in the RNF213 gene from a European family with Moyamoya disease. Human Genome Variation , 6 , Article 35. 10.1038/s41439-019-0066-6. Green open access
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Gerli, MFM; Moyle, LA; Benedetti, S; Ferrari, G; Ucuncu, E; Ragazzi, M; Constantinou, C; ... Tedesco, FS; + view all (2019) Combined Notch and PDGF Signaling Enhances Migration and Expression of Stem Cell Markers while Inducing Perivascular Cell Features in Muscle Satellite Cells. Stem Cell Reports , 12 (3) pp. 461-473. 10.1016/j.stemcr.2019.01.007. Green open access
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Gerstl, L; Badura, K; Heinen, F; Weinberger, R; Peraud, A; Dorn, F; Bonfert, MV; ... O'Callaghan, FJ; + view all (2019) Childhood haemorrhagic stroke: a 7-year single-centre experience. Archives of Disease in Childhood , 104 (12) pp. 1198-1202. 10.1136/archdischild-2018-316749. Green open access
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Goergen, SK; Alibrahim, E; Govender, N; Stanislavsky, A; Abel, C; Prystupa, S; Collett, J; ... Arthurs, OJ; + view all (2019) Diagnostic assessment of foetal brain malformations with intra-uterine MRI versus perinatal post-mortem MRI. Neuroradiology 10.1007/s00234-019-02218-9. (In press). Green open access
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Goh, V; National Institute for Health Research Clinical Research Network, .; Royal College of Radiologists' Academic Committee, .; (2019) The National Institute for Health Research: making an impact in imaging research. Clinical Radiology , 74 (3) pp. 242-246. 10.1016/j.crad.2018.11.012. Green open access
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Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; ... Kurian, MA; + view all (2019) Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. American Journal of Human Genetics , 104 (5) pp. 948-956. 10.1016/j.ajhg.2019.03.005. Green open access
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Graham, RJ; Muntoni, F; Hughes, I; Yum, SW; Kuntz, NL; Yang, ML; Byrne, BJ; ... Beggs, AH; + view all (2019) Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Archives of Disease in Childhood 10.1136/archdischild-2019-317910. (In press). Green open access
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Greenfield, K; Holley, S; Schoth, DE; Harrop, E; Howard, R; Bayliss, J; Brook, L; ... Liossi, C; + view all (2019) Barriers and facilitators experienced by patients, carers and healthcare professionals when managing symptoms in infants, children and young people at end-of-life: a mixed methods systematic review protocol. BMJ Open , 9 (7) , Article e030566. 10.1136/bmjopen-2019-030566. Green open access
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Gregory, A; Lotia, M; Jeong, SY; Fox, R; Zhen, D; Sanford, L; Hamada, J; ... Hayflick, SJ; + view all (2019) Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). Molecular Genetics & Genomic Medicine , Article e736. 10.1002/mgg3.736. (In press). Green open access
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Groeschel, S; Holmstroem, L; Northam, G; Tournier, J-D; Baldeweg, T; Latal, B; Caflisch, J; (2019) Motor Abilities in Adolescents Born Preterm Are Associated With Microstructure of the Corpus Callosum. Frontiers in Neurology , 10 (367) 10.3389/fneur.2019.00367. Green open access
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Guilliams, KP; Kirkham, FJ; Holzhauer, S; Pavlakis, S; Philbrook, B; Amlie-Lefond, C; Noetzel, MJ; ... Dowling, MM; + view all (2019) Arteriopathy Influences Pediatric Ischemic Stroke Presentation, but Sickle Cell Disease Influences Stroke Management. Stroke , 50 (5) pp. 1089-1094. 10.1161/STROKEAHA.118.022800. Green open access
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Habib, A; Okorokov, A; Hill, M; Bras, J; Lee, M-C; Li, S; Gossage, S; ... Cox, J; + view all (2019) Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity. British Journal of Anaesthesia , 123 (2) e249-e253. 10.1016/j.bja.2019.02.019. Green open access
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Hafner, P; Phadke, R; Manzur, A; Smitha, R; Jaiser, S; Schutz, P; Sewry, C; ... Pitt, M; + view all (2019) Electromyography and muscle biopsy in paediatric neuromuscular disorders – Evaluation of current practice and literature review. Neuromuscular Disorders , 29 (1) pp. 14-20. 10.1016/j.nmd.2018.10.003. Green open access
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Hales, PW; d'Arco, F; Cooper, J; Pfeuffer, J; Hargrave, D; Mankad, K; Clark, C; (2019) Arterial spin labelling and diffusion-weighted imaging in paediatric brain tumours. Neuroimage: Clinical , 22 , Article 101696. 10.1016/j.nicl.2019.101696. Green open access
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Hargreaves, DS; Arora, S; Viveiro, C; Hale, DR; Ward, JL; Sherlaw-Johnson, C; Viner, RM; ... Cross, JH; + view all (2019) Association of quality of paediatric epilepsy care with mortality and unplanned hospital admissions among children and young people with epilepsy in England: a national longitudinal data linkage study. The Lancet Child & Adolescent Health , 3 (9) pp. 627-635. 10.1016/S2352-4642(19)30201-9. Green open access
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Hasan, S; Chari, A; Ganau, M; Uff, C; (2019) Defining New Research Questions and Protocols in the Field of Traumatic Brain Injury through Public Engagement: Preliminary Results and Review of the Literature. Emergency Medicine International , 2019 , Article 9101235. 10.1155/2019/9101235. Green open access
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Hawks, Z; Hood, AM; Lerman-Sinkoff, DB; Shimony, JS; Rutlin, J; Lagoni, D; Grange, DK; (2019) White and gray matter brain development in children and young adults with phenylketonuria. Neuroimage: Clinical , 23 , Article 101916. 10.1016/j.nicl.2019.101916. Green open access
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Haworth, S; Shapland, CY; Hayward, C; Prins, BP; Felix, JF; Medina-Gomez, C; Rivadeneira, F; ... St Pourcain, B; + view all (2019) Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nature Communications , 10 , Article 357. 10.1038/s41467-018-07863-x. Green open access
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Hedberg-Oldfors, C; Abramsson, A; Osborn, DPS; Danielsson, O; Fazlinezhad, A; Nilipour, Y; Hübbert, L; ... Jamshidi, Y; + view all (2019) Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24. Human Molecular Genetics , 28 (11) pp. 1919-1929. 10.1093/hmg/ddz032. Green open access
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Hirtz, D; Kirkham, FJ; (2019) Sickle Cell Disease and Stroke. Pediatric Neurology , 95 pp. 34-41. 10.1016/j.pediatrneurol.2019.02.018. Green open access
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Hood, AM; King, AA; Fields, ME; Ford, AL; Guilliams, KP; Hulbert, ML; Lee, J-M; (2019) Higher executive abilities following a blood transfusion in children and young adults with sickle cell disease. Pediatric Blood & Cancer , 66 (10) , Article e27899. 10.1002/pbc.27899. Green open access
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Horsfall, HL; Mohan, M; Devi, BI; Adeleye, AO; Shukla, DP; Bhat, D; Khan, M; ... Kolias, AG; + view all (2019) Hinge/floating craniotomy as an alternative technique for cerebral decompression: a scoping review. Neurosurgical Review 10.1007/s10143-019-01180-7. (In press). Green open access
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Howard, J; Lee, SA; Inusa, B; Cheng, MYE; Bavenjit, C; Reading, IC; Wakeford, SA; ... Liossi, C; + view all (2019) Prevention of Morbidity in Sickle Cell Disease (POMS2a)-overnight auto-adjusting continuous positive airway pressure compared with nocturnal oxygen therapy: a randomised crossover pilot study examining patient preference and safety in adults and children. Trials , 20 (1) , Article 442. 10.1186/s13063-019-3461-x. Green open access
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Hutchinson, C; Shelmerdine, SC; Lewis, C; Parmenter, J; Simcock, IC; Ward, L; Ashworth, MT; ... Sebire, NJ; + view all (2019) Minimally invasive perinatal and pediatric autopsy with laparoscopically assisted tissue sampling: feasibility and experience of the MinImAL procedure. Ultrasound in Obstetrics & Gynecology , 54 (5) pp. 661-669. 10.1002/uog.20211. Green open access
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Jacob, M; Saunders, DE; Sangeda, RZ; Ahmed, M; Tutuba, H; Kussaga, F; Musa, B; ... Kirkham, FJ; + view all (2019) Cerebral Infarcts and Vasculopathy in Tanzanian Children With Sickle Cell Anemia. Pediatric Neurology 10.1016/j.pediatrneurol.2019.12.008. (In press). Green open access
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Jansen, AC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; D'Amato, L; ... Trollmann, R; + view all (2019) Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study. Frontiers in Neurology , 10 , Article 821. 10.3389/fneur.2019.00821. Green open access
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Jansen, AC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... Trollmann, R; + view all (2019) Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex. Frontiers in Neurology , 10 , Article 705. 10.3389/fneur.2019.00705. Green open access
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Jones, C; Atkinson, P; Memon, A; Dabydeen, L; Das, KB; Cross, JH; Gillberg, C; ... Reilly, C; + view all (2019) Experiences and needs of parents of young children with active epilepsy: A population-based study. Epilepsy & Behavior , 90 pp. 37-44. 10.1016/j.yebeh.2018.10.031. Green open access
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Reilly, C; Grant, M; Bennett, S; Murphy, T; Heyman, I; (2019) Review: Physical exercise in Tourette syndrome – a systematic review. Child and Adolescent Mental Health , 24 (1) pp. 3-11. 10.1111/camh.12263. Green open access
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Shelmerdine, SC; Davendralingam, N; Palm, L; Minden, T; Cary, N; Sebire, NJ; Arthurs, OJ; (2019) Diagnostic Accuracy of Postmortem CT of Children: A Retrospective Single-Center Study. American Journal of Roentgenology , 212 (6) pp. 1335-1347. 10.2214/AJR.18.20534.

Shelmerdine, SC; Gerrard, CY; Rao, P; Lynch, M; Kroll, J; Martin, D; Miller, E; ... Arthurs, OJ; + view all (2019) Joint European Society of Paediatric Radiology (ESPR) and International Society for Forensic Radiology and Imaging (ISFRI) guidelines: paediatric postmortem computed tomography imaging protocol. Pediatric Radiology 10.1007/s00247-018-04340-x. (In press). Green open access
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Shelmerdine, SC; Hickson, M; Sebire, NJ; Arthurs, OJ; (2019) Post-Mortem Magnetic Resonance Imaging Appearances of Feticide in Perinatal Deaths. Fetal Diagnosis and Therapy , 45 (4) pp. 221-229. 10.1159/000488940. Green open access
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Shelmerdine, SC; Klein, W; Arthurs, OJ; (2019) Neonatal Autopsy: A 21st Century Approach? [Letter]. Neonatology , 115 (3) pp. 275-276. 10.1159/000495912. Green open access
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Shelmerdine, SC; Langan, D; Mandalia, U; Sebire, NJ; Arthurs, OJ; (2019) Maceration determines diagnostic yield of fetal and neonatal whole body post‐mortem ultrasound. Prenatal Diagnosis 10.1002/pd.5615. (In press). Green open access
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Shelmerdine, SC; Sebire, NJ; Arthurs, OJ; (2019) Perinatal post mortem ultrasound (PMUS): a practical approach. Insights Imaging , 10 (1) , Article 35. 10.1186/s13244-019-0723-9. Green open access
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Shelmerdine, SC; Sebire, NJ; Arthurs, OJ; (2019) Perinatal post-mortem ultrasound (PMUS): radiological-pathological correlation. Insights Imaging , 10 , Article 81. 10.1186/s13244-019-0762-2. Green open access
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Shelmerdine, SC; Singh, M; Norman, W; Jones, R; Sebire, NJ; Arthurs, OJ; (2019) Automated data extraction and report analysis in computer-aided radiology audit: practice implications from post-mortem paediatric imaging. Clinical Radiology , 74 (9) 733.e11-733.e18. 10.1016/j.crad.2019.04.021. Green open access
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Shelmerdine, SC; Singh, M; Simcock, I; Calder, AD; Ashworth, M; Beleza, A; Sebire, NJ; (2019) Characterization of Bardet–Biedl syndrome by postmortem microfocus computed tomography (micro‐CT). [Letter]. Ultrasound in Obstetrics & Gynecology , 53 (1) pp. 132-134. 10.1002/uog.19190. Green open access
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Shirley, M; Arthurs, O; Seunarine, K; Cole, T; Eaton, SJ; Williams, J; Clark, C; (2019) Metabolic rate of major organs and tissues in young adult South Asian women. European Journal of Clinical Nutrition , 73 pp. 1164-1171. 10.1038/s41430-018-0362-0. Green open access
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Signorelli, M; Ayoglu, B; Johansson, C; Lochmüller, H; Straub, V; Muntoni, F; Niks, E; ... Spitali, P; + view all (2019) Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12517. (In press). Green open access
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Skirrow, C; Cross, JH; Owens, R; Weiss-Croft, L; Martin-Sanfilippo, P; Banks, T; Shah, E; ... Baldeweg, T; + view all (2019) Determinants of IQ outcome after focal epilepsy surgery in childhood: A longitudinal case-control neuroimaging study. Epilepsia , 60 (5) pp. 872-884. 10.1111/epi.14707. Green open access
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Soul, JS; Pressler, R; Allen, M; Boylan, G; Rabe, H; Portman, R; Hardy, P; ... International Neonatal Consortium, .; + view all (2019) Recommendations for the design of therapeutic trials for neonatal seizures. Pediatr Research 10.1038/s41390-018-0242-2. (In press). Green open access
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Spaull, R; McPherson, B; Gialeli, A; Clayton, A; Uney, J; Heep, A; Cordero-Llana, Ó; (2019) Exosomes populate the cerebrospinal fluid of preterm infants with post-haemorrhagic hydrocephalus. International Journal of Developmental Neuroscience , 73 (1) pp. 59-65. 10.1016/j.ijdevneu.2019.01.004. Green open access
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Stewart, J-AT; Willen, SM; Cohen, R; Rodeghier, M; Kirkham, F; Redline, SS; Rosen, C; ... DeBaun, MR; + view all (2019) BMI percentile is an independent predictor of increase in lung function in children with sickle cell anemia. American Journal of Hematology , 94 (5) E136-E138. 10.1002/ajh.25433. Green open access
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Stotesbury, H; Kawadler, JM; Hales, PW; Saunders, DE; Clark, CA; Kirkham, FJ; (2019) Vascular Instability and Neurological Morbidity in Sickle Cell Disease: An Integrative Framework. Frontiers in Neurology , 10 , Article 871. 10.3389/fneur.2019.00871. Green open access
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Surana, S; Kumar, R; Pitt, M; Hafner, P; Mclellan, A; Davidson, J; Prabakhar, P; ... Wright, S; + view all (2019) Acquired neuromyotonia in children with CASPR2 and LGI1 antibodies. Developmental Medicine & Child Neurology , 61 (1) pp. 1344-1347. 10.1111/dmcn.14179. Green open access
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The European Institute for Biomedical Imaging Research (EIBIR); (2019) Strategic research agenda for biomedical imaging. Insights into Imaging , 10- , Article 7. 10.1186/s13244-019-0684-z. Green open access
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Tur, C; Grussu, F; Prados Carrasco, F; Charalambous, T; Collorone, S; Kanber, B; Cawley, N; ... Ciccarelli, O; + view all (2019) A multi-shell multi-tissue diffusion study of brain connectivity in early multiple sclerosis. Multiple Sclerosis Journal 10.1177/1352458519845105. (In press). Green open access
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van der Louw, E; Aldaz, V; Harvey, J; Roan, M; van den Hurk, D; Cross, JH; Auvin, S; (2019) Optimal clinical management of children receiving ketogenic parenteral nutrition: a clinical practice guide. Developmental Medicine and Child Neurology 10.1111/dmcn.14306. (In press). Green open access
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Van Dijken, BRJ; Van Laar, PJ; Li, C; Yan, J-L; Boonzaier, NR; Price, SJ; Van der Hoorn, A; (2019) Ventricle contact is associated with lower survival and increased peritumoral perfusion in glioblastoma. Journal of Neurosurgery , 131 (3) pp. 717-723. 10.3171/2018.5.JNS18340. Green open access
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van Setten, J; Verweij, N; Mbarek, H; Niemeijer, MN; Trompet, S; Arking, DE; Brody, JA; ... Isaacs, A; + view all (2019) Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits. European Journal of Human Genetics 10.1038/s41431-018-0295-z. (In press). Green open access
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Verhaart, IEC; Johnson, A; Thakrar, S; Vroom, E; De Angelis, F; Muntoni, F; Aartsma-Rus, AM; (2019) Muscle biopsies in clinical trials for Duchenne muscular dystrophy - Patients' and caregivers' perspective. Neuromuscular Disorders 10.1016/j.nmd.2019.06.004. (In press). Green open access
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Vincent, AE; White, K; Davey, T; Philips, J; Ogden, RT; Lawess, C; Warren, C; ... Picard, M; + view all (2019) Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network. Cell Reports , 26 (4) 996-1009.e4. 10.1016/j.celrep.2019.01.010. Green open access
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Walker, S; (2019) Early life pain—effects in the adult. Current Opinion in Physiology , 11 pp. 16-24. 10.1016/j.cophys.2019.04.011. Green open access
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Walker, SM; (2019) Long-term effects of neonatal pain. Seminars in Fetal and Neonatal Medicine , 24 (4) , Article 101005. 10.1016/j.siny.2019.04.005. Green open access
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Wang, H; Kaçar Bayram, A; Sprute, R; Ozdemir, O; Cooper, E; Pergande, M; Efthymiou, S; ... Cirak, S; + view all (2019) Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking. Frontiers in Neuroscience , 13 , Article 974. 10.3389/fnins.2019.00974. Green open access
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Wedderburn, LR; Webb, K; Peckham, H; Radziszewska, A; Menon, M; Oliveri, P; Simpson, F; ... Ioannou, Y; + view all (2019) Sex and Pubertal Differences in the Type 1 Interferon Pathway Associate With Both X Chromosome Number and Serum Sex Hormone Concentration. Frontiers in Immunology , 9 , Article 3167. 10.3389/fimmu.2018.03167. Green open access
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Wei, W; Tuna, S; Keogh, MJ; Smith, KR; Aitman, TJ; Beales, PL; Bennett, DL; ... Chinnery, PF; + view all (2019) Germline selection shapes human mitochondrial DNA diversity. Science , 364 (6442) , Article eaau6520. 10.1126/science.aau6520. Green open access
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Wilke, M; Baldeweg, T; (2019) A multidimensional artefact-reduction approach to increase robustness of first-level fMRI analyses: Censoring vs. interpolating. Journal of Neuroscience Methods , 318 pp. 56-68. 10.1016/j.jneumeth.2019.02.008. Green open access
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Yan, J-L; Li, C; Boonzaier, NR; Fountain, DM; Larkin, TJ; Matys, T; van der Hoorn, A; (2019) Multimodal MRI characteristics of the glioblastoma infiltration beyond contrast enhancement. Therapeutic Advances in Neurological Disorders , 12 pp. 1-10. 10.1177/1756286419844664. Green open access
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Yang, Y; van der Klaauw, AA; Zhu, L; Cacciottolo, TM; He, Y; Stadler, LKJ; Wang, C; ... Zhang, W; + view all (2019) Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis. Nature Communications , 10 , Article 1718. 10.1038/s41467-019-08737-6. Green open access
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Zwi-Dantsis, L; Wang, B; Marijon, C; Zonetti, S; Ferrini, A; Massi, L; Stuckey, DJ; ... Stevens, MM; + view all (2019) Remote Magnetic Nanoparticle Manipulation Enables the Dynamic Patterning of Cardiac Tissues. Advanced Materials , Article e1904598. 10.1002/adma.201904598. (In press). Green open access
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Book chapter

Radic, J; Pressler, R; Cross, JH; (2019) Benign Familial Neonatal Epilepsy (BFNE). In: Shorvon, Simon and Guerrini, Renzo and Schachter, Steven and Trinka, Eugen, (eds.) The Causes of Epilepsy: Common and Uncommon Causes in Adults and Children, Second Edition. (pp. 143-153). Cambridge University Press Green open access
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Proceedings paper

De Roever, I; Vezyroglou, A; Hebden, P; Thornton, R; Worley, A; Alves, M; Dean, E; ... Tachtsidis, I; + view all (2019) A new multichannel broadband NIRS system for quantitative monitoring of brain hemodynamics and metabolism during seizures. In: Dehghani, H and Wabnitz, H, (eds.) Diffuse Optical Spectroscopy and Imaging VII. SPIE: Munich, Germany. Green open access
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Murdoch, R; Kawadler, J; Kirkham, F; Shmueli, K; (2019) MRI susceptibility mapping suggests elevated brain iron in sickle cell anaemia. In: Proceedings of the ISMRM 27th Annual Meeting & Exhibition. SMRT 28th Annual Meeting. (pp. pp. 1-3). International Society for Magnetic Resonance in Medicine (ISMRM) Green open access
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Murdoch, R; Stotesbury, H; Kawadler, J; Kirkham, F; Shmueli, K; (2019) MRI susceptibility mapping shows decreased venous oxygen saturation in sickle cell anaemia. In: Proceedings of the ISMRM 27th Annual Meeting & Exhibition. SMRT 28th Annual Meeting. (pp. pp. 1-3). International Society for Magnetic Resonance in Medicine (ISMRM) Green open access
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Powell, E; Prados, F; Chard, D; Toosy, A; Clayden, JD; Wheeler-Kingshott, CGAM; (2019) Edge Weights and Network Properties in Multiple Sclerosis. In: Frangi, Alejandro and Alberola-Lopez, Carlos, (eds.) Proceedings of the 21st International Conference on Medical Image Computing and Computer-Assisted Intervention (MICCAI 2018). (pp. pp. 281-291). Springer: Cham, Switzerland. Green open access
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Smith, C; Shelmerdine, S; Arthurs, O; Baskaran, I; Sebire, N; Mohamedally, D; (2019) HoloLens for medical imaging using post-mortem fetal micro-CT data. In: Proceedings of the European Society of Radiology, ECR 2019. European Society of Radiology, ECR 2019 Green open access
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Conference item

Crosby, LE; Real, FJ; Cruse, B; Davis, D; Klein, M; McTate, E; Hood, AM; ... Quinn, CT; + view all (2019) An Immersive Virtual Reality Curriculum for Pediatric Providers on Shared Decision Making for Hydroxyurea. Presented at: 61st ASH Annual Meeting, Orlando, FL, USA. Green open access
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deVeber, G; Kirkham, F; Brandao, LR; Sträter, R; Kenet, G; Kausch, M; Stoll, M; ... Nowak-Göttl, U; + view all (2019) Recurrent Pediatric Stroke: The Role of Thrombophilia in a Large International Pediatric Stroke Population. Presented at: 63rd Annual Meeting of the Society of Thrombosis and Haemostasis Research, Berlin, Germany. Green open access
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Hood, A; (2019) Interventions to Improve Cognitive Outcomes. Presented at: 6th Annual Sickle Cell Patient & Family Symposium, Plano, TX, USA. Green open access
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Hood, A; Nwankwo, C; Kidwell, K; Joffe, N; McTate, E; Crosby, L; (2019) Self-Management Intervention Improves Behavioral Activation in Adolescents and Young Adults with Sickle Cell Disease. Presented at: Society of Pediatric Psychology Annual Conference 2019, New Orleans, LA, USA. Green open access
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Hood, AM; Johnson, Y; Nwankwo, C; Shook, LM; Hildenbrand, AK; King, AA; Smith-Whitley, K; ... Crosby, LE; + view all (2019) Clinical Practice Patterns for Hydroxyurea Initiation in Young Children with Sickle Cell Disease. Presented at: 61st ASH Annual Meeting, Orlando, FL, USA. Green open access
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Jain, D; Ganesan, K; Sahota, S; Darbari, DS; Krishnamurti, L; Kirkham, FJ; (2019) Transcranial Doppler Screening in Children with Sickle Cell Anemia Is Feasible in Central India and Reveals High Risk of Stroke. Presented at: 61st ASH Annual Meeting, Orlando (FL), USA. Green open access
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Poster

Hood, A; Crosby, L; Lebensburger, J; Madan-Swain, A; Rumble, D; Trost, Z; (2019) Older female children experience poorer quality of life when levels of perceived racial bias are high. Presented at: 14th Annual Academy of Sickle Cell and Thalassaemia conference (ASCAT 2019), London, UK. Green open access
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Thesis

Hutchinson, John Ciaran; (2019) Development of the minimally invasive paediatric & perinatal autopsy. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Pini, Veronica; (2019) Development of a CRISPR-based gene therapy approach to correct duplications causing Duchenne Muscular Dystrophy. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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This list was generated on Mon Apr 15 00:50:23 2024 BST.