UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Browse by UCL Departments and Centres

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Author | Type
Number of items: 202.

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

Botcharova, M; Farmer, SF; Berthouze, L; (2019) A maximum likelihood based technique for validating detrended fluctuation analysis (ML-DFA). (In press).

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
filefilefilefile

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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 10.1136/archdischild-2018-316749. (In press). Green open access
filefile

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
filefile

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
file

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
file

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
file

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
file

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
file

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
file

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
filefilefile

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

Jones, HF; Morales-Briceño, H; Barwick, K; Lewis, J; Sanchis-Juan, A; Raymond, FL; Stewart, K; ... Mohammad, SS; + view all (2019) Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation. [Letter]. Movement Disorders 10.1002/mds.27708. (In press).

Jungbluth, H; Muntoni, F; (2019) Therapeutic Aspects in Congenital Myopathies. Seminars in Pediatric Neurology , 29 pp. 71-82. 10.1016/j.spen.2019.01.004. Green open access
file

Kang, X; Cos Sanchez, T; Arthurs, OJ; Bevilacqua, E; Cannie, MM; Segers, V; Lecomte, S; ... Jani, JC; + view all (2019) Postmortem fetal imaging: prospective blinded comparison of two‐dimensional ultrasound with magnetic resonance imaging. Ultrasound in Obstetrics & Gynaecology , 54 (6) pp. 791-799. 10.1002/uog.20217. Green open access
file

Kang, X; Shelmerdine, SC; Hurtado, I; Bevilacqua, E; Hutchinson, C; Mandalia, U; Segers, V; ... Jani, JC; + view all (2019) Postmortem examination of human fetuses: a comparison of 2-dimensional ultrasound with invasive autopsy. Ultrasound in Obstetric and Gynecology , 53 (2) pp. 229-238. 10.1002/uog.18828. Green open access
file

Karda, R; Counsell, JR; Karbowniczek, K; Caproni, LJ; Tite, JP; Waddington, N; (2019) Production of lentiviral vectors using novel, enzymatically-produced, linear DNA vectors. Gene Therapy 10.1038/s41434-018-0056-1. (In press). Green open access
file

Katus, L; Hayes, N; Mason, L; Blasi, A; McCann, S; Darboe, M; de Haan, M; ... Elwell, C; + view all (2019) Implementing neuroimaging and eye tracking methods to assess neurocognitive development of young infants in low- and middle-income countries [version 2; peer review: 2 approved]. Gates Open Research , 3 , Article 1113. 10.12688/gatesopenres.12951.2. Green open access
file

Kawadler, JM; Slee, A; Stotesbury, H; Koelbel, M; Balfour, P; Saunders, DE; Rees, D; ... Liossi, C; + view all (2019) Index of Pain Experience in Sickle Cell Anaemia (IPESCA): development from daily pain diaries and initial findings from use with children and adults with sickle cell anaemia. British Journal of Haematology , 186 (2) pp. 360-363. 10.1111/bjh.15841. Green open access
filefile

Kija, EN; Saunders, DE; Munubhi, E; Darekar, A; Barker, S; Cox, TCS; Mango, M; ... Newton, CRJC; + view all (2019) Transcranial Doppler and Magnetic Resonance in Tanzanian Children With Sickle Cell Disease. Stroke , 50 (7) pp. 1719-1726. 10.1161/STROKEAHA.118.018920. Green open access
file

Kim, J; Lana, B; Torelli, S; Ryan, D; Catapano, F; Ala, P; Luft, C; ... Lin, Y-Y; + view all (2019) A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan. EMBO Reports , Article e47967. 10.15252/embr.201947967. (In press). Green open access
file

Krieger, TG; Moran, CM; Frangini, A; Visser, WE; Schoenmakers, E; Muntoni, F; Clark, CA; ... Livesey, FJ; + view all (2019) Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development. Proceedings of the National Academy of Sciences of the United States of America , 116 (45) pp. 22754-22763. 10.1073/pnas.1908762116. Green open access
file

Lagae, L; Sullivan, J; Knupp, K; Laux, L; Polster, T; Nikanorova, M; Devinsky, O; ... FAiRE DS Study Group, ; + view all (2019) Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial. The Lancet , 394 (10216) pp. 2243-2254. 10.1016/S0140-6736(19)32500-0. Green open access
file

Layard Horsfall, H; Chari, A; Huttunen, T; Simcock, C; D'Arco, F; Thompson, D; (2019) Whole spine MRI is not required in investigating uncomplicated paediatric lumbosacral lipoma. A retrospective single-institution review. Child's Nervous System , 35 (11) pp. 2163-2169. 10.1007/s00381-019-04373-z. Green open access
file

Lewis, C; Hutchinson, JC; Riddington, M; Hill, M; Arthurs, OJ; Fisher, J; Wade, A; ... Sebire, NJ; + view all (2019) Minimally invasive autopsy for fetuses and children based on a combination of post-mortem MRI and endoscopic examination: a feasibility study. Health Technology Assessment , 23 (46) 10.3310/hta23460. Green open access
file

Lewis, C; Riddington, M; Hill, M; Arthurs, OJ; Hutchinson, JC; Chitty, LS; Bevan, C; ... Sebire, NJ; + view all (2019) Availability of less invasive prenatal, perinatal and paediatric autopsy will improve uptake rates: a mixed‐methods study with bereaved parents. BJOG: An International Journal of Obstetrics & Gynaecology , 126 (6) pp. 745-753. 10.1111/1471-0528.15591. Green open access
file

Lewis, C; Riddington, M; Hill, M; Bevan, C; Fisher, J; Lyas, L; Chalmers, A; ... Sebire, N; + view all (2019) "The communication and support from the health professional is incredibly important": A qualitative study exploring the processes and practices that support parental decision-making about postmortem examination. Prenatal Diagnosis , 39 (13) pp. 1242-1253. 10.1002/pd.5575. Green open access
file

Li, C; Wang, S; Liu, P; Torheim, T; Boonzaier, NR; van Dijken, BR; Schönlieb, C-B; ... Price, SJ; + view all (2019) Decoding the Interdependence of Multiparametric Magnetic Resonance Imaging to Reveal Patient Subgroups Correlated with Survivals. Neoplasia , 21 (5) pp. 442-449. 10.1016/j.neo.2019.03.005. Green open access
file

Li, C; Wang, S; Serra, A; Torheim, T; Yan, J-L; Boonzaier, NR; Huang, Y; ... Price, SJ; + view all (2019) Multi-parametric and multi-regional histogram analysis of MRI: modality integration reveals imaging phenotypes of glioblastoma. European Radiology 10.1007/s00330-018-5984-z. (In press). Green open access
file

Li, C; Yan, JL; Torheim, T; McLean, MA; Boonzaier, NR; Zou, J; Huang, Y; ... Price, SJ; + view all (2019) Low perfusion compartments in glioblastoma quantified by advanced magnetic resonance imaging and correlated with patient survival. Radiotherapy and Oncology , 134 pp. 17-24. 10.1016/j.radonc.2019.01.008. Green open access
file

Liegeois, FJ; Mei, C; Pigdon, L; Lee, KJ; Stojanowski, B; Mackay, M; Morgan, A; (2019) Speech and language impairments after childhood arterial ischemic stroke: does hemisphere matter? Pediatric Neurology , 92 pp. 55-59. 10.1016/j.pediatrneurol.2018.11.006. Green open access
file

Liégeois, FJ; Turner, SJ; Mayes, A; Bonthrone, AF; Boys, A; Smith, L; Parry-Fielder, B; ... Morgan, AT; + view all (2019) Dorsal language stream anomalies in an inherited speech disorder. Brain , 142 (4) pp. 966-977. 10.1093/brain/awz018. Green open access
filefile

LoMauro, A; Mastella, C; Alberti, K; Masson, R; Aliverti, A; Baranello, G; (2019) Effect of Nusinersen on Respiratory Muscle Function in Different Subtypes of Type 1 Spinal Muscular Atrophy. American Journal of Respiratory and Critical Care Medicine , 200 (12) pp. 1547-1550. 10.1164/rccm.201906-1175LE. Green open access
file

Lorio, S; Tierney, TM; McDowell, A; Arthurs, OJ; Lutti, A; Weiskopf, N; Carmichael, DW; (2019) Flexible proton density (PD) mapping using multi-contrast variable flip angle (VFA) data. Neuroimage , 186 pp. 464-475. 10.1016/j.neuroimage.2018.11.023. (In press). Green open access
file

MacLennan, AH; Lewis, S; Moreno-De-Luca, A; Fahey, M; Leventer, RJ; McIntyre, S; Ben-Pazi, H; ... Gecz, J; + view all (2019) Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy. Journal of Child Neurology 10.1177/0883073819840449. (In press). Green open access
file

Maneas, E; Aughwane, R; Huynh, N; Xia, W; Ansari, R; Kuniyil Ajith Singh, M; Hutchinson, JC; ... Desjardins, AE; + view all (2019) Photoacoustic imaging of the human placental vasculature. Journal of Biophotonics , Article e201900167. 10.1002/jbio.201900167. (In press). Green open access
file

Marchet, S; Invernizzi, F; Blasevich, F; Bruno, V; Dusi, S; Venco, P; Fiorillo, C; ... Lamperti, C; + view all (2019) Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene. Mitochondrion , 47 pp. 24-29. 10.1016/j.mito.2019.04.002. Green open access
file

Marques, R; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... Nabbout, R; + view all (2019) The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases. Frontiers in Neurology , 10 , Article 1182. 10.3389/fneur.2019.01182. Green open access
file

Marques, R; Belousoye, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... Trollmann, R; + view all (2019) Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry. Frontiers in Neurology , 10 , Article 1144. 10.3389/fneur.2019.01144. Green open access
file

Martin-McGill, KJ; Lambert, B; Whiteley, VJ; Wood, S; Neal, EG; Simpson, ZR; Schoeler, NE; (2019) Understanding the core principles of a 'modified ketogenic diet': a UK and Ireland perspective. Journal of Human Nutrition and Dietetics , 32 (3) pp. 385-390. 10.1111/jhn.12637. Green open access
file

Martinos, MM; Pujar, S; O'Reilly, H; de Haan, M; Neville, BGR; Scott, RC; Chin, RFM; (2019) Intelligence and memory outcomes within 10 years of childhood convulsive status epilepticus. Epilepsy & Behavior , 95 pp. 18-25. 10.1016/j.yebeh.2019.03.039. Green open access
file

McCrea, N; Fullerton, HJ; Ganesan, V; (2019) Genetic and Environmental Associations With Pediatric Cerebral Arteriopathy Insights Into Disease Mechanisms. Stroke , 50 (2) pp. 257-265. 10.1161/STROKEAHA.118.020479. Green open access
file

McKevitt, C; Topor, M; Panton, A; Mallick, AA; Ganesan, V; Wraige, E; Gordon, A; (2019) Seeking normality: Parents' experiences of childhood stroke. Child: Care, Health and Development , 45 (1) pp. 89-95. 10.1111/cch.12622. Green open access
file

Mctague, A; (2019) Navigating the genetic landscape of childhood epilepsy: a new perspective? Developmental Medicine & Child Neurology , 61 (8) pp. 858-859. 10.1111/dmcn.14203. Green open access
file

Mee, H; Kolias, AG; Chari, A; Ercole, A; Lecky, F; Turner, C; Tudur-Smith, C; ... Hutchinson, PJ; + view all (2019) Pharmacological management of post-traumatic seizures in adults: current practice patterns in the UK and the Republic of Ireland. Acta Neurochirurgica , 161 (3) pp. 457-464. 10.1007/s00701-018-3683-9. Green open access
file

Meinke, P; Kerr, ARW; Czapiewski, R; de Las Heras, JI; Dixon, CR; Harris, E; Kölbel, H; ... Schirmer, EC; + view all (2019) A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism. EBioMedicine 10.1016/j.ebiom.2019.11.048. (In press). Green open access
file

Mendichovszky, I; Pullens, P; Dekkers, I; Nery, F; Bane, O; Pohlmann, A; de Boer, A; ... Sourbron, S; + view all (2019) Technical recommendations for clinical translation of renal MRI: a consensus project of the Cooperation in Science and Technology Action PARENCHIMA. Magnetic Resonance Materials in Physics, Biology and Medicine 10.1007/s10334-019-00784-w. (In press). Green open access
file

Mercuri, E; Bonnemann, CG; Muntoni, F; (2019) Muscular dystrophies. The Lancet , 394 (10213) pp. 2025-2038. 10.1016/S0140-6736(19)32910-1. Green open access
file

Misra, S; Peters, G; Barnes, E; Ardern-Holmes, S; Webster, R; Troedson, C; Mohammad, SS; ... Dale, RC; + view all (2019) Yield of comparative genomic hybridization microarray in pediatric neurology practice. Neurology Genetics , 5 (6) , Article e367. 10.1212/NXG.0000000000000367. Green open access
file

Mohan, M; Islim, AI; Rasul, FT; Rominiyi, O; deSouza, R-M; Poon, MTC; Jamjoom, AAB; ... British Neurosurgical Trainee Research Collaborative, .; + view all (2019) Subarachnoid haemorrhage with negative initial neurovascular imaging: a systematic review and meta-analysis. Acta Neurochirurgica 10.1007/s00701-019-04025-w. Green open access
file

Montes, J; Dunaway Young, S; Mazzone, ES; Pasternak, A; Glanzman, AM; Finkel, RS; Darras, BT; ... CS2 and CS12 Study Groups, .; + view all (2019) Nusinersen Improves Walking Distance and Reduces Fatigue in Later-Onset SMA. Muscle & Nerve , 60 (4) pp. 409-414. 10.1002/mus.26633. Green open access
file

Morgan, J; Butler-Browne, G; Muntoni, F; Patel, K; Skeletal Muscle Stem Cells Involvement in Pathology Study Group, ; (2019) 240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands. Neuromuscular Disorders , 29 (9) pp. 704-715. 10.1016/j.nmd.2019.07.003. Green open access
file

Moriarty, O; Tu, Y; Sengar, AS; Salter, MW; Beggs, S; Walker, SM; (2019) Priming of adult incision response by early life injury: neonatal microglial inhibition has persistent but sexually dimorphic effects in adult rats. Journal of Neuroscience , 39 (16) pp. 3081-3093. 10.1523/JNEUROSCI.1786-18.2019. Green open access
file

Muntoni, F; Desguerre, I; Guglieri, M; Osorio, AN; Kirschner, J; Tulinius, M; Buccella, F; ... Mercuri, E; + view all (2019) Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry. Journal of Comparative Effectiveness Research 10.2217/cer-2019-0086. (In press). Green open access
file

Muntoni, F; Domingos, J; Manzur, AY; Mayhew, A; Guglieri, M; UK NorthStar Network, .; Sajeev, G; ... Ward, SJ; + view all (2019) Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy. PLoS One , 14 (9) , Article e0221097. 10.1371/journal.pone.0221097. Green open access
file

Muntoni, F; Tejura, B; Spinty, S; Roper, H; Hughes, I; Layton, G; Davies, KE; ... Tinsley, J; + view all (2019) A Phase 1b Trial to Assess the Pharmacokinetics of Ezutromid in Pediatric Duchenne Muscular Dystrophy Patients on a Balanced Diet. Clinical Pharmacology in Drug Development , 8 (7) pp. 922-933. 10.1002/cpdd.642. Green open access
file

Nabbout, R; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... TOSCA Consortium and TOSCA Investigators, ; + view all (2019) Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study. Epilepsia Open , 4 (1) pp. 73-84. 10.1002/epi4.12286. Green open access
file

Nery, F; Buchanan, CE; Harteveld, AA; Odudu, A; Bane, O; Cox, EF; Derlin, K; ... Fernández-Seara, MA; + view all (2019) Consensus-based technical recommendations for clinical translation of renal ASL MRI. Magnetic Resonance Materials in Physics, Biology and Medicine 10.1007/s10334-019-00800-z. (In press). Green open access
file

Northam, GB; Morgan, AT; Fitzsimmons, S; Baldeweg, T; Liegeois, F; (2019) Corticobulbar Tract Injury, Oromotor Impairment and Language Plasticity in Adolescents Born Preterm. Frontiers in Human Neuroscience , 13 , Article 45. 10.3389/fnhum.2019.00045. Green open access
file

Nunes, ML; Yozawitz, EG; Zuberi, S; Mizrahi, EM; Cilio, MR; Moshé, SL; Plouin, P; ... Task Force on Neonatal Seizures, ILAE Commission on Classificati, ; + view all (2019) Neonatal seizures: Is there a relationship between ictal electroclinical features and etiology? A critical appraisal based on a systematic literature review. Epilepsia Open , 4 (1) pp. 10-29. 10.1002/epi4.12298. Green open access
file

O'Callaghan, F; (2019) Cannabis derived medicinal products in child neurology. Cannabis derived medicinal products in child neurology , 61 (6) p. 622. 10.1111/dmcn.14232. Green open access
file

Olson, HE; Demarest, ST; Pestana-Knight, EM; Swanson, LC; Iqbal, S; Lal, D; Leonard, H; ... Benke, TA; + view all (2019) Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. [Review]. Pediatric Neurology , 97 pp. 18-25. 10.1016/j.pediatrneurol.2019.02.015. Green open access
file

Omairi, S; Hau, K-L; Collins-Hooper, H; Scott, C; Vaiyapuri, S; Torelli, S; Montanaro, F; ... Patel, K; + view all (2019) Regulation of the dystrophin-associated glycoprotein complex composition by the metabolic properties of muscle fibres. Scientific Reports , 9 , Article 2770. 10.1038/s41598-019-39532-4. Green open access
file

Osborne, JP; Edwards, SW; Alber, FD; Hancock, E; Johnson, AL; Kennedy, CR; Likeman, M; ... O'Callaghan, FJK; + view all (2019) The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS). Epilepsia , 60 (9) pp. 1861-1869. 10.1111/epi.16305. Green open access
file

Palmer, AJR; Ayyar Gupta, V; Fernquest, S; Rombach, I; Dutton, SJ; Mansour, R; Wood, S; ... FAIT Study Group, ; + view all (2019) Arthroscopic hip surgery compared with physiotherapy and activity modification for the treatment of symptomatic femoroacetabular impingement: multicentre randomised controlled trial. BMJ , 364 , Article l185. 10.1136/bmj.l185. Green open access
file

Pellegrin, S; Munoz, FM; Padula, M; Heath, PT; Meller, L; Top, K; Wilmshurst, J; ... Pressler, RM; + view all (2019) Neonatal seizures: Case definition & guidelines for data collection, analysis, and presentation of immunization safety data. Vaccine , 37 (52) pp. 7596-7609. 10.1016/j.vaccine.2019.05.031. Green open access
file

Pera, MC; Coratti, G; Mazzone, ES; Montes, J; Scoto, M; De Sanctis, R; Main, M; ... iSMAC Consortium Group, .; + view all (2019) Revised Upper Limb Module for Spinal Muscular Atrophy: 12 month changes. Muscle Nerve , 59 (4) pp. 426-430. 10.1002/mus.26419. Green open access
file

Pereira, MR; Barbosa, F; de Haan, M; Ferreira-Santos, F; (2019) Understanding the Development of Face and Emotion Processing Under a Predictive Processing Framework. Developmental Psychology , 55 (9) pp. 1868-1881. 10.1037/dev0000706. Green open access
file

Pitkänen, A; Henshall, DC; Cross, JH; Guerrini, R; Jozwiak, S; Kokaia, M; Simonato, M; ... Mifsud, J; + view all (2019) Advancing research toward faster diagnosis, better treatment, and end of stigma in epilepsy. Epilepsia , 60 (7) pp. 1281-1292. 10.1111/epi.16091. Green open access
file

Pressler, RM; (2019) Neugeborenenanfälle. Zeitschrift fur Epileptologie , 32 (2) pp. 98-106. 10.1007/s10309-018-0244-4. Green open access
file

Ramantani, G; Schmitt, B; Plecko, B; Pressler, RM; Wohlrab, G; Klebermass-Schrehof, K; Hagmann, C; ... Boylan, GB; + view all (2019) Neonatal Seizures—Are We there Yet? Neuropediatrics , 50 (5) pp. 280-293. 10.1055/s-0039-1693149. Green open access
file

Rasul, FT; Matloob, SA; Haliasos, N; Jankovic, I; Boyd, S; Thompson, DNP; (2019) Intraoperative neurophysiological monitoring in paediatric Chiari surgery—help or hindrance? Child's Nervous System , 35 (10) pp. 1769-1776. 10.1007/s00381-019-04312-y. Green open access
file

Reilly, C; Atkinson, P; Memon, A; Jones, C; Dabydeen, L; Cross, JH; Das, KB; ... Scott, RC; + view all (2019) Autism, ADHD and parent-reported behavioural difficulties in young children with epilepsy. Seizure , 71 pp. 233-239. 10.1016/j.seizure.2019.08.003. Green open access
file

Reilly, C; Baldeweg, T; Stewart, N; Wadhwani, S; Jones, C; Helen Cross, J; Heyman, I; (2019) Do behavior and emotions improve after pediatric epilepsy surgery? A systematic review. Epilepsia , 60 (5) pp. 885-897. 10.1111/epi.14737. Green open access
file

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
file

Ricotti, V; Selby, V; Ridout, D; Domingos, J; Decostre, V; Mayhew, A; Eagle, M; ... Muntoni, F; + view all (2019) Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study. Neuromuscular Disorders , 29 (4) pp. 261-268. 10.1016/j.nmd.2019.02.002. Green open access
file

Rogers, HJ; Verhagen, MV; Shelmerdine, SC; Clark, CA; Hales, PW; (2019) An alternative approach to contrast-enhanced imaging: diffusion-weighted imaging and T1-weighted imaging identifies and quantifies necrosis in Wilms tumour. European Radiology 10.1007/s00330-018-5907-z. (In press). Green open access
file

Rosch, RE; Auksztulewicz, R; Leung, PD; Friston, KJ; Baldeweg, T; (2019) Selective Prefrontal Disinhibition in a Roving Auditory Oddball Paradigm Under N-Methyl-D-Aspartate Receptor Blockade. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging , 4 (2) pp. 140-150. 10.1016/j.bpsc.2018.07.003. Green open access
file

Sa, M; Singh, R; Pujar, S; D'Arco, F; Desai, N; Eltze, C; Hughes, E; ... Valentin, A; + view all (2019) Centromedian thalamic nuclei deep brain stimulation and Anakinra treatment for FIRES - Two different outcomes. European Journal of Paediatric Neurology , 23 (5) pp. 749-754. 10.1016/j.ejpn.2019.08.001. Green open access
file

Sacco, A; Ushakov, F; Thompson, D; Peebles, D; Pandya, P; De Coppi, P; Wimalasundera, R; ... Deprest, J; + view all (2019) Fetal surgery for open spina bifida. [Review]. The Obstetrician & Gynaecologist , 21 (4) pp. 271-282. 10.1111/tog.12603. Green open access
file

Salaets, T; Turner, MA; Short, M; Ward, RM; Hokuto, I; Ariagno, RL; Klein, A; ... Zeldis, S; + view all (2019) Development of a neonatal adverse event severity scale through a Delphi consensus approach. Archives of Disease in Childhood , 104 (12) pp. 1167-1173. 10.1136/archdischild-2019-317399. Green open access
file

Scheller, M; Garcia, S; Bathelt, J; de Haan, M; Petrini, K; (2019) Active touch facilitates object size perception in children but not adults: A multisensory event related potential study. Brain Research , 1723 , Article 146381. 10.1016/j.brainres.2019.146381. Green open access
file

Shelmerdine, S; Langan, D; Sebire, NJ; Arthurs, O; (2019) Diagnostic accuracy of perinatal post-mortem ultrasound (PMUS): a systematic review. BMJ Paediatr Open , 3 (1) , Article e000566. 10.1136/bmjpo-2019-000566. Green open access
file

Shelmerdine, SC; Arthurs, OJ; Gilpin, I; Norman, W; Jones, R; Taylor, AM; Sebire, NJ; (2019) Is traditional perinatal autopsy needed after detailed fetal ultrasound and post-mortem MRI? Prenatal Diagnosis , 39 (9) pp. 818-829. 10.1002/pd.5448. Green open access
file

Shelmerdine, SC; Ashworth, MT; Calder, AD; Muthialu, N; Arthurs, OJ; (2019) Micro-CT of tracheal stenosis in trisomy 21. Thorax , 74 (4) pp. 419-420. 10.1136/thoraxjnl-2018-212966. Green open access
file

Shelmerdine, SC; Chung, KL; Hutchinson, JC; Elliott, C; Sebire, NJ; Arthurs, OJ; (2019) Feasibility of Postmortem Imaging Assessment of Brain: Liver Volume Ratios with Pathological Validation. Fetal Diagnosis and Therapy 10.1159/000497158. (In press). Green open access
file

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
file

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
filefile

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
file

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
file

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
file

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
file

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
file

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
file

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 10.1038/s41430-018-0362-0. (In press). Green open access
file

Shirley, MK; Cole, TJ; Arthurs, OJ; Clark, CA; Wells, JCK; (2019) Developmental origins of variability in pelvic dimensions: Evidence from nulliparous South Asian women in the United Kingdom. American Journal of Human Biology , Article e23340. 10.1002/ajhb.23340. (In press). Green open access
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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
file

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

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
file

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
file

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
file

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
file

Thesis

Hutchinson, John Ciaran; (2019) Development of the minimally invasive paediatric & perinatal autopsy. Doctoral thesis (Ph.D), UCL (University College London). Green open access
file

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
file

Soskic, Sonja; (2019) Neuroimaging markers of motor function in children with cerebral palsy. Doctoral thesis (Ph.D), UCL (University College London).

This list was generated on Tue Apr 13 10:29:53 2021 BST.