Browse by UCL Departments and Centres
Group by: Author | Type
Number of items: 217.
Article
Abela, L;
Kurian, MA;
(2018)
Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.
Journal of Inherited Metabolic Disease
, 41
(6)
pp. 1077-1091.
10.1007/s10545-018-0205-0.
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Adler, S;
Blackwood, M;
Northam, GB;
Gunny, R;
Hong, SJ;
Bernhardt, BC;
Bernasconi, A;
... Baldeweg, T; + view all
(2018)
Multimodal computational neocortical anatomy in pediatric hippocampal sclerosis.
Annals of Clinical and Translational Neurology
, 5
(10)
pp. 1200-1210.
10.1002/acn3.634.
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Adler, S;
Hong, S-J;
Liu, M;
Baldeweg, T;
Cross, JH;
Bernasconi, A;
Bernhardt, BC;
(2018)
Topographic principles of cortical fluid-attenuated inversion recovery signal in temporal lobe epilepsy.
Epilepsia
, 59
(3)
pp. 627-635.
10.1111/epi.14017.
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Aguti, S;
Malerba, A;
Zhou, H;
(2018)
The progress of AAV-mediated gene therapy in neuromuscular disorders.
Expert Opinion on Biological Therapy
, 18
(6)
pp. 681-693.
10.1080/14712598.2018.1479739.
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Amin, S;
Kingswood, JC;
Bolton, PF;
Elmslie, F;
Gale, DP;
Harland, C;
Johnson, SR;
... O'Callaghan, FJ; + view all
(2018)
The UK guidelines for management and surveillance of Tuberous Sclerosis Complex.
QJM: An International Journal of Medicine
, Article hcy215. 10.1093/qjmed/hcy215.
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Astrea, G;
Romano, A;
Angelini, C;
Antozzi, CG;
Barresi, R;
Battini, R;
Battisti, C;
... Santorelli, FM; + view all
(2018)
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Orphanet Journal of Rare Diseases
, 13
, Article 170. 10.1186/s13023-018-0863-x.
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Augustin, K;
Khabbush, A;
Williams, S;
Eaton, SJ;
Orford, M;
Cross, H;
Heales, SJ;
... Williams, R; + view all
(2018)
Mechanisms of action for the medium-chain triglyceride ketogenic diet in neurological and metabolic disorders.
The Lancet Neurology
, 17
(1)
pp. 84-93.
10.1016/S1474-4422(17)30408-8.
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Auvin, S;
Wirrell, E;
Donald, KA;
Berl, M;
Hartmann, H;
Valente, KD;
Van Bogaert, P;
... Wilmshurst, JM; + view all
(2018)
Systematic review of the screening, diagnosis, and management of ADHD in children with epilepsy. Consensus paper of the Task Force on Comorbidities of the ILAE Pediatric Commission.
Epilepsia
, 59
(10)
pp. 1867-1880.
10.1111/epi.14549.
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Baker, K;
Gordon, SL;
Melland, H;
Bumbak, F;
Scott, DJ;
Jiang, TJ;
Owen, D;
... Raymond, FL; + view all
(2018)
SYT1-associated neurodevelopmental disorder: a case series.
Brain
, 141
(9)
pp. 2576-2591.
10.1093/brain/awy209.
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Baldassari, S;
Picard, F;
Verbeek, NE;
van Kempen, M;
Brilstra, EH;
Lesca, G;
Conti, V;
... Baulac, S; + view all
(2018)
The landscape of epilepsy-related GATOR1 variants.
Genetics in Medicine
10.1038/s41436-018-0060-2.
(In press).
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Bangash, MA;
Alles, SRA;
Santana-Varela, S;
Millet, Q;
Sikandar, S;
de Clauser, L;
Ter Heegde, F;
... Wood, JN; + view all
(2018)
Distinct transcriptional responses of mouse sensory neurons in models of human chronic pain conditions.
Wellcome Open Research
, 3
, Article 78. 10.12688/wellcomeopenres.14641.1.
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Baud, MO;
Perneger, T;
Rácz, A;
Pensel, MC;
Elger, C;
Rydenhag, B;
Malmgren, K;
... Seeck, M; + view all
(2018)
European trends in epilepsy surgery.
Neurology
, 91
(2)
E96-E106.
10.1212/WNL.0000000000005776.
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Beslow, LA;
Dowling, MM;
Hassanein, SMA;
Lynch, JK;
Zafeiriou, D;
Sun, LR;
Kopyta, I;
... Lee, J; + view all
(2018)
Mortality After Pediatric Arterial Ischemic Stroke.
Pediatrics
, 141
(5)
, Article e20174146. 10.1542/peds.2017-4146.
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Bihlmeyer, NA;
Brody, JA;
Smith, AV;
Warren, HR;
Lin, H;
Isaacs, A;
Liu, C-T;
... Sotoodehnia, N; + view all
(2018)
ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.
Circulation: Genomic and Precision Medicine
, 11
(1)
, Article e001758. 10.1161/CIRCGEN.117.001758.
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Bishop, CA;
Ricotti, V;
Sinclair, CDJ;
Evans, MRB;
Butler, JW;
Morrow, JM;
Hanna, MG;
... Janiczek, RL; + view all
(2018)
Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy.
Frontiers in Neurology
, 9
, Article 9. 10.3389/fneur.2018.00009.
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Blencowe, N;
Glasbey, J;
Heywood, N;
Kasivisvanathan, V;
Lee, M;
Nepogodiev, D;
Wilkin, R;
... Williams, A; + view all
(2018)
Recognising contributions to work in research collaboratives: Guidelines for standardising reporting of authorship in collaborative research.
International Journal of Surgery
, 52
pp. 355-360.
10.1016/j.ijsu.2017.12.019.
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Bourke, JP;
Watson, G;
Muntoni, F;
Spinty, S;
Roper, H;
Guglieri, M;
Speed, C;
... DMD Heart Protection study group, .; + view all
(2018)
Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study.
BMJ Open
, 8
(12)
, Article e022572. 10.1136/bmjopen-2018-022572.
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Braun, KPJ;
Cross, JH;
(2018)
Pediatric epilepsy surgery: the earlier the better.
Expert Review of Neurotherapeutics
, 18
(4)
pp. 261-263.
10.1080/14737175.2018.1455503.
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Brown, KL;
Ridout, DA;
Pagel, C;
Lakhanpaul, M;
Kakat, S;
Banks, V;
Franklin, R;
... Wray, J; + view all
(2018)
Validation of the Brief Developmental Assessment in pre-school children with heart disease.
Cardiology in the Young
, 28
(4)
pp. 571-581.
10.1017/S1047951117002773.
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Buyse, GM;
Rummey, C;
Meier, T;
Leinonen, M;
Voit, T;
McDonald, CM;
Mayer, OH;
(2018)
Home-Based Monitoring of Pulmonary Function in Patients with Duchenne Muscular Dystroph.
Journal of Neuromuscular Diseases
, 5
(4)
pp. 419-430.
10.3233/JND-180338.
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Catapano, F;
Domingos, J;
Perry, M;
Ricotti, V;
Phillips, L;
Servais, L;
Seferian, A;
... Muntoni, F; + view all
(2018)
Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients.
Epigenomics
, 10
(7)
pp. 875-889.
10.2217/epi-2018-0022.
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Cearns, MD;
Hettige, S;
De Coppi, P;
Thompson, DNP;
(2018)
Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach.
Journal of Neurosurgery: Pediatrics
, 22
(5)
pp. 467-599.
10.3171/2018.5.PEDS17582.
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Cossu, G;
Birchall, M;
Brown, T;
De Coppi, P;
Culme-Seymour, E;
Gibbon, S;
Hitchcock, J;
... Wilson, JGS; + view all
(2018)
Lancet Commission: Stem Cells and Regenerative Medicine.
The Lancet
, 391
(10123)
pp. 883-910.
10.1016/S0140-6736(17)31366-1.
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Cox, SE;
ELLINS, EA;
Marealle, AI;
Newton, C;
Soka, D;
Sasi, P;
di Tanna, GL;
... Kirkham, F; + view all
(2018)
Ready-to-use food supplement +/- arginine & citrulline with daily chloroquine in Tanzanian children with sickle cell disease: a double blind random order cross-over trial.
The Lancet Haematology
, 5
(4)
e147-e160.
10.1016/S2352-3026(18)30020-6.
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D'Arco, F;
Alves, CA;
Raybaud, C;
Chong, WKK;
Ishak, GE;
Ramji, S;
Grima, M;
... Ganesan, V; + view all
(2018)
Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations.
American Journal of Neuroradiology
, 39
(11)
pp. 2126-2131.
10.3174/ajnr.A5823.
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D'Arco, F;
O'Hare, P;
Dashti, F;
Lassaletta, A;
Loka, T;
Tabori, U;
Talenti, G;
... Laughlin, S; + view all
(2018)
Volumetric assessment of tumor size changes in pediatric low-grade gliomas: feasibility and comparison with linear measurements.
Neuroradiology
, 60
(4)
pp. 427-436.
10.1007/s00234-018-1979-3.
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de Vries, PJ;
Belousova, E;
Benedik, MP;
Carter, T;
Cottin, V;
Curatolo, P;
Dahlin, M;
... Jansen, AC; + view all
(2018)
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.
Orphanet Journal of Rare Diseases
, 13
(1)
, Article 157. 10.1186/s13023-018-0901-8.
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Devinsky, O;
Patel, AD;
Cross, JH;
Villanueva, V;
Wirrell, EC;
Privitera, M;
Greenwood, SM;
... Zuberi, SM; + view all
(2018)
Effect of Cannabidiol on Drop Seizures in the Lennox-Gastaut Syndrome.
New England Journal of Medicine
, 378
(20)
pp. 1888-1897.
10.1056/NEJMoa1714631.
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Dlamini, N;
Shah-Basak, P;
Leung, J;
Kirkham, F;
Shroff, M;
Kassner, A;
Robertson, A;
... Logan, W; + view all
(2018)
Breath-Hold Blood Oxygen Level-Dependent MRI: A Tool for the Assessment of Cerebrovascular Reserve in Children with Moyamoya Disease.
American Journal of Neuroradiology
, 39
(9)
pp. 1717-1723.
10.3174/ajnr.A5739.
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Domenger, C;
Allais, M;
François, V;
Léger, A;
Lecomte, E;
Montus, M;
Servais, L;
... Le Guiner, C; + view all
(2018)
RNA-Seq Analysis of an Antisense Sequence Optimized for Exon Skipping in Duchenne Patients Reveals No Off-Target Effect.
Molecular Therapy: Nucleic Acids
, 10
pp. 277-291.
10.1016/j.omtn.2017.12.008.
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Domingos, J;
Ricotti, V;
Martinez, AE;
Muntoni, F;
(2018)
Severe persistent injection site reactions after subcutaneous 2'-O-methyl phosphorothioate oligonucleotide therapy for Duchenne muscular dystrophy.
Neuromuscular Disorders
, 28
(2)
pp. 176-177.
10.1016/j.nmd.2017.11.015.
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Downes, M;
Berg, C;
Kirkham, FJ;
Kischkel, L;
McMurray, I;
de Haan, M;
(2018)
Task utility and norms for the Preschool Executive Task Assessment (PETA).
Child Neuropsychology
, 24
(6)
pp. 784-798.
10.1080/09297049.2017.1333092.
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Downes, M;
de Haan, M;
O'Leary, T;
Telfer, PT;
Kirkham, FJ;
(2018)
Temperament in preschool children with sickle cell anaemia.
Archives of Disease in Childhood
10.1136/archdischild-2018-315054.
(In press).
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Downes, M;
Kelly, D;
Day, K;
Marlow, N;
de Haan, M;
(2018)
Visual attention control differences in 12-month-old preterm infants.
Infant Behavior and Development
, 50
pp. 180-188.
10.1016/j.infbeh.2018.01.002.
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Downes, M;
Kirkham, FJ;
Telfer, PT;
De Haan, M;
(2018)
Altered Neurophysiological Processing of Auditory Attention in Preschool Children With Sickle Cell Disease.
Journal of Pediatric Psychology
, 43
(8)
pp. 856-869.
10.1093/jpepsy/jsx115.
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Downes, M;
Kirkham, FJ;
Telfer, PT;
de Haan, M;
(2018)
Assessment of Executive Functions in Preschool Children With Sickle Cell Anemia.
Journal of the International Neuropsychological Society
, 24
(9)
, Article Special Issue. 10.1017/S1355617718000255.
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Dragoumi, P;
O'Callaghan, F;
Zafeiriou, DI;
(2018)
Diagnosis of tuberous sclerosis complex in the fetus.
European Journal of Paediatric Neurology
, 22
(6)
pp. 1027-1034.
10.1016/j.ejpn.2018.08.005.
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Dulal, S;
Liégeois, F;
Osrin, D;
Kuczynski, A;
Manandhar, D;
Shrestha, B;
Sen, A;
... Audrey, P; + view all
(2018)
Does antenatal micronutrient supplementation improve children’s cognitive function? Evidence from the follow-up of a double-blind randomised controlled trial in Nepal.
BMJ Global Health
, 3
(1)
, Article e000527. 10.1136/bmjgh-2017-000527.
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Eldar, E;
Roth, C;
Dayan, P;
Dolan, RJ;
(2018)
Decodability of Reward Learning Signals Predicts Mood Fluctuations.
Current Biology
, 28
(9)
1433-1439.e7.
10.1016/j.cub.2018.03.038.
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Elfeky, RA;
Furtado-Silva, JM;
Chiesa, R;
Rao, K;
Amrolia, P;
Lucchini, G;
Gilmour, K;
... Veys, P; + view all
(2018)
One hundred percent survival after transplantation of 34 patients with Wiskott-Aldrich syndrome over 20 years.
[Letter].
Journal of Allergy and Clinical Immunology
, 142
(5)
1654-1656.e7.
10.1016/j.jaci.2018.06.042.
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Elfeky, RA;
Furtado-Silva, JM;
Chiesa, R;
Rao, K;
Lucchini, G;
Amrolia, P;
Worth, A;
... Veys, P; + view all
(2018)
Umbilical cord blood transplantation without in vivo T-cell depletion for children with MHC class II deficiency.
Journal of Allergy and Clinical Immunology
, 141
(6)
2279-2282.e2.
10.1016/j.jaci.2017.10.051.
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Elward, RL;
Vargha-Khadem, F;
(2018)
Semantic Memory in Developmental Amnesia.
Neuroscience Letters
, 680
pp. 23-30.
10.1016/j.neulet.2018.04.040.
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Faramand, AM;
Barnes, N;
Harrison, S;
Gunny, R;
Jacques, T;
Tahir, MZ;
Varadkar, SM;
... Tisdall, MM; + view all
(2018)
Seizure and cognitive outcomes after resection of glioneuronal tumors in children.
Epilepsia
, 59
(1)
pp. 170-178.
10.1111/epi.13961.
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Farmery, JHR;
Smith, ML;
Lynch, AG;
Huissoon, A;
Furnell, A;
Mead, A;
Levine, AP;
... Tan, Y; + view all
(2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018).
Scientific Reports
, 8
, Article 13376. 10.1038/s41598-018-31524-0.
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Farmery, JHR;
Smith, ML;
NIHR BioResource - Rare Diseases, .;
Lynch, AG;
Mead, A;
Levine, AP;
Manzur, A;
... Huissoon, A; + view all
(2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
Scientific Reports
, 8
, Article 1300. 10.1038/s41598-017-14403-y.
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Finkel, RS;
Mercuri, E;
Meyer, OH;
Simonds, AK;
Schroth, MK;
Graham, RJ;
Kirschner, J;
... Sejersen, T; + view all
(2018)
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.
Neuromuscular Disorders
, 28
(3)
pp. 197-207.
10.1016/j.nmd.2017.11.004.
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Fisher, RS;
Cross, JH;
D Souza, C;
French, JA;
Haut, SR;
Higurashi, N;
Hirsch, E;
... Zuberi, SM; + view all
(2018)
Anleitung („instruction manual“) zur Anwendung der operationalen Klassifikation von Anfallsformen der ILAE 2017
// Instruction manual for the ILAE 2017 operational classification of seizure types.
Zeitschrift fur Epileptologie
, 31
(4)
pp. 282-295.
10.1007/s10309-018-0217-7.
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Fisher, RS;
Cross, JH;
French, JA;
Higurashi, N;
Hirsch, E;
Jansen, FE;
Lagae, L;
... Zuberi, SM; + view all
(2018)
Operationale Klassifikation der Anfallsformen durch die Internationale Liga gegen Epilepsie: Positionspapier der ILAE-Klassifikations- und Terminologiekommission // Operational classification of seizure types by the International League Against Epilepsy: position paper of the ILAE Commission for Classification and Terminology.
Zeitschrift fur Epileptologie
, 31
(4)
pp. 272-281.
10.1007/s10309-018-0216-8.
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Garavaglia, L;
Pagliano, E;
Baranello, G;
Pittaccio, S;
(2018)
Why orthotic devices could be of help in the management of Movement Disorders in the young.
Journal of NeuroEngineering and Rehabilitation
, 15
, Article 118. 10.1186/s12984-018-0466-8.
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Gibbard, CR;
Ren, J;
Skuse, DH;
Clayden, JD;
Clark, CA;
(2018)
Structural connectivity of the amygdala in young adults with autism spectrum disorder.
Human Brain Mapping
, 39
(3)
pp. 1270-1282.
10.1002/hbm.23915.
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Gopalan, V;
Rennie, A;
Robertson, F;
Kanagarajah, L;
Toolis, C;
Bhate, S;
Ganesan, V;
(2018)
Presentation, course, and outcome of postneonatal presentations of vein of Galen malformation: a large, single-institution case series.
Developmental Medicine & Child Neurology
, 60
(4)
pp. 424-429.
10.1111/dmcn.13676.
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Gordon, AL;
Nguyen, L;
Panton, A;
Mallick, AA;
Ganesan, V;
Wraige, E;
McKevitt, C;
(2018)
Self-reported needs after pediatric stroke.
European Journal of Paediatric Neurology
, 22
(5)
pp. 791-796.
10.1016/j.ejpn.2018.06.003.
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Gorman, KM;
Meyer, E;
Kurian, MA;
(2018)
Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.
[Review].
European Journal of Paediatric Neurology
, 22
(2)
pp. 245-256.
10.1016/j.ejpn.2017.11.009.
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Gregory, S;
Crawford, H;
Seunarine, K;
Leavitt, B;
Durr, A;
Roos, RAC;
Scahill, RI;
... Orth, M; + view all
(2018)
Natural biological variation of white matter microstructure is accentuated in Huntington's disease.
Human Brain Mapping
, 39
(9)
pp. 3516-3527.
10.1002/hbm.24191.
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Habib, AM;
Matsuyama, A;
Okorokov, AL;
Santana, S;
Bras, JT;
Aloisi, AM;
Emery, EC;
... Cox, JJ; + view all
(2018)
A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.
Brain
, 141
(2)
pp. 365-376.
10.1093/brain/awx326.
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Hales, PW;
Smith, V;
Dhanoa-Hayre, D;
O'Hare, P;
Mankad, K;
d'Arco, F;
Cooper, J;
... Clark, C; + view all
(2018)
Delineation of the visual pathway in paediatric optic pathway glioma patients using probabilistic tractography, and correlations with visual acuity.
NeuroImage: Clinical
, 17
pp. 541-548.
10.1016/j.nicl.2017.10.010.
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Hall, CL;
Davies, EB;
Andren, P;
Murphy, T;
Bennett, SD;
Brown, BJ;
Brown, S;
... Hollis, C; + view all
(2018)
Investigating a therapist-guided, parent-assisted remote digital behavioural intervention for tics in children and adolescents – ‘Online Remote Behavioural Intervention for Tics’ (ORBIT) Trial: protocol of an internal pilot study and single-blind randomised controlled trial.
BMJ Open
, 9
(1)
, Article e027583. 10.1136/bmjopen-2018-027583.
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Harkness, W;
(2018)
Presidential address 2017 William Harkness FRCS October 10th 2017 Denver, Co USA: 2017—annus mirabilis, a global view of neurosurgery for children.
Child's Nervous System
, 34
(10)
pp. 1817-1836.
10.1007/s00381-018-3931-6.
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Hayflick, SJ;
Kurian, MA;
Hogarth, P;
(2018)
Chapter 19 - Neurodegeneration with brain iron accumulation.
Handbook of Clinical Neurology
, 147
pp. 293-305.
10.1016/B978-0-444-63233-3.00019-1.
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Hiller, M;
Falzarano, MS;
Garcia-Jimenez, I;
Sardone, V;
Verheul, RC;
Popplewell, L;
Anthony, K;
... Spitali, P; + view all
(2018)
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures.
PLoS One
, 13
(10)
, Article e0204485. 10.1371/journal.pone.0204485.
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Hood, A;
Pulvers, K;
(2018)
Methodological and Statistical Challenges in the Study of How Anxiety and Stress Impair Working Memory Performance.
SAGE Research Methods Cases in Psychology
10.4135/9781526449153.
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Howard, J;
Slee, AE;
Skene, S;
Inusa, B;
Kawadler, J;
Downes, M;
Gavlak, J;
... Liossi, C; + view all
(2018)
Overnight auto-adjusting continuous airway pressure + standard care compared with standard care alone in the prevention of morbidity in sickle cell disease phase II (POMS2b): study protocol for a randomised controlled trial.
Trials
, 19
(1)
, Article 55. 10.1186/s13063-017-2419-0.
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Huang, J;
Mis, MA;
Tanaka, B;
Adi, T;
Estacion, M;
Liu, S;
Walker, S;
... Waxman, SG; + view all
(2018)
Atypical changes in DRG neuron excitability and complex pain phenotype associated with a Na(v)1.7 mutation that massively hyperpolarizes activation.
Scientific Reports
, 8
, Article 1811. 10.1038/s41598-018-20221-7.
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Hutchinson, JC;
Kang, X;
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Duan, D;
(2018)
Cardiac-Specific Expression of ΔH2-R15 Mini-Dystrophin Normalized All Electrocardiogram Abnormalities and the End-Diastolic Volume in a 23-Month-Old Mouse Model of Duchenne Dilated Cardiomyopathy.
Human Gene Therapy
, 29
(7)
pp. 737-748.
10.1089/hum.2017.144.
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Webb, EA;
Elliott, L;
Carlin, D;
Wilson, M;
Hall, K;
Netherton, J;
Reed, J;
... Wood, AG; + view all
(2018)
Quantitative MRI brain in congenital adrenal hyperplasia: in vivo assessment of the cognitive and structural impact of steroid hormones.
The Journal of Clinical Endocrinology & Metabolism
, 103
(4)
pp. 1330-1341.
10.1210/jc.2017-01481.
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West, TO;
Berthouze, L;
Halliday, DM;
Litvak, V;
Sharott, A;
Magill, PJ;
Farmer, SF;
(2018)
Propagation of Beta/Gamma Rhythms in the Cortico-Basal Ganglia Circuits of the Parkinsonian Rat.
Journal of Neurophysiology
, 119
(5)
pp. 1608-1628.
10.1152/jn.00629.2017.
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Willen, SM;
Cohen, R;
Rodeghier, M;
Kirkham, F;
Redline, SS;
Rosen, C;
Kirkby, J;
(2018)
Age is the only predictor of small decrease in lung function in children with sickle cell anemia.
American Journal of Hematology
, 93
(3)
pp. 408-415.
10.1002/ajh.25003.
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Willen, SM;
Rodeghier, M;
Strunk, RC;
Bacharier, LB;
Rosen, CL;
Kirkham, FJ;
DeBaun, MR;
(2018)
Aeroallergen sensitization predicts acute chest syndrome in children with sickle cell anaemia.
British Journal of Haematology
, 180
(4)
pp. 571-577.
10.1111/bjh.15076.
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Willoughby, J;
Duff-Farrier, C;
Desurkar, A;
Kurian, M;
Raghavan, A;
DDD Study;
Balasubramanian, M;
(2018)
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.
American Journal of Medical Genetics Part A
, 176
(5)
pp. 1049-1054.
10.1002/ajmg.a.38656.
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Wilson, BA;
Vargha-Khadem, F;
Florschutz, G;
(2018)
Alexander's disease and the story of Louise.
Neuropsychological Rehabilitation
, 28
(2)
pp. 199-207.
10.1080/09602011.2016.1222945.
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Wray, J;
Brown, KL;
Ridout, D;
Lakhanpaul, M;
Smith, L;
Scarisbrick, A;
O'Curry, S;
(2018)
Development and preliminary testing of the Brief Developmental Assessment: an early recognition tool for children with heart disease.
Cardiology in the Young
, 28
(4)
pp. 582-591.
10.1017/S1047951117002918.
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Zagaglia, S;
Selch, C;
Nisevic, JR;
Mei, D;
Michalak, Z;
Hernandez-Hernandez, L;
Krithika, S;
... Sisodiya, SM; + view all
(2018)
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Neurology
, 91
e1-e11.
10.1212/WNL.0000000000006567.
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Zaharieva, IT;
Sarkozy, A;
Munot, P;
Manzur, A;
O'Grady, G;
Rendu, J;
Malfatti, E;
... Muntoni, F; + view all
(2018)
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Human Mutation
, 39
(12)
pp. 1980-1994.
10.1002/humu.23635.
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Zhou, H;
Muntoni, F;
(2018)
Morpholino-Mediated Exon Inclusion for SMA.
Exon Skipping and Inclusion Therapies
, 1828
pp. 467-477.
10.1007/978-1-4939-8651-4_29.
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Proceedings paper
Charalambous, T;
Prados Carrasco, F;
Tur Gomez, C;
Kanber, B;
Ourselin, S;
Chard, D;
Clayden, JD;
... Toosy, A; + view all
(2018)
Longitudinal Analysis Framework of DWI Data for Reconstructing Structural Brain Networks with Application to Multiple Sclerosis.
In: Kaden, E and Grussu, F and Ning, L and Tax, CMW and Veraart, J, (eds.)
Computational Diffusion MRI.
(pp. pp. 205-218).
Springer: Cham, Switzerland.
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Murdoch, R;
Kawadler, J;
Kirkham, F;
Shmueli, K;
(2018)
Investigating the effect of prior stroke on regional brain iron concentrations in children with sickle cell anaemia using MRI susceptibility mapping.
In:
Proceedings of the Joint Annual Meeting ISMRM-ESMRMB 2018. SMRT 27th Annual Meeting.
(pp. pp. 1-3).
: International Society for Magnetic Resonance in Medicine (ISMRM).
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Conference item
Kolbel, M;
Stotesbury, H;
Kawadler, J;
Howard, J;
Inusa, B;
Rees, D;
Chakravorty, S;
... Slee, A; + view all
(2018)
Does auto-adjusting positive airway pressure (APAP) aid memory and learning in children with sickle cell disease and sleep disordered-breathing?
Presented at: 58th Annual Scientific Meeting of the British-Society-for-Haematology, Liverpool, UK.
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Powell, E;
Prados Carrasco, F;
Brownlee, W;
Kanber, B;
Collorone, S;
Ourselin, S;
Ciccarelli, O;
... Wheeler-Kingshott, CAM; + view all
(2018)
A comparison of subnetwork classification methods.
Presented at: ISMRM 2018, Paris, France.
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Slee, A;
Stotesbury, H;
Kawadler, J;
Koelbel, M;
Chakravorty, S;
Pelidis, M;
Thein, SL;
... Kirkham, F; + view all
(2018)
Prevention of Morbidity in Sickle Cell Disease Phase 2 (POMS 2b pediatric): Improvement of Cognition in children with Sickle Cell Disease with Auto-adjusting Continuous Positive Airways Pressure: a single-blind, randomized, controlled phase II trial.
Presented at: 58th Annual Scientific Meeting of the British-Society-for-Haematology, Liverpool, UK.
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Smith, C;
Kawadler, J;
Kirkham, F;
Hogan, A;
Telfer, P;
Stotesbury, H;
(2018)
Residential proximity to major roads and cognitive function in asymptomatic children with Sickle Cell Anaemia: a longitudinal study.
Presented at: 58th Annual Scientific Meeting of the British-Society-for-Haematology, Liverpool, UK.
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Webb, K;
Butler, G;
Ciurtin, C;
Peckham, H;
Radziszewska, A;
Wedderburn, L;
Ioannou, J;
(2018)
Pubertal females produce an enhanced interferon-alpha anti-viral response compared to males, which is associated with X chromosome number, and not sex hormones.
Presented at: 57th European Society of Paediatric Endocrinology Congress (ESPE), Athens, Greece.
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Webb, K;
Butler, G;
Ciurtin, C;
Peckham, H;
Radziszewska, A;
Wedderburn, L;
Ioannou, J;
(2018)
Sex Differences in Autoimmune Disease: Testosterone is Associated with a Decrease in Expression of Key Anti-viral Genes During Puberty, Which may Decrease the Risk of Autoimmunity in Males.
Presented at: 57th European Society of Paediatric Endocrinology Congress (ESPE), Athens, Greece.
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Webb, K;
Butler, G;
Ciurtin, C;
Peckham, H;
Radziszewska, A;
Wedderburn, L;
Ioannou, Y;
(2018)
Juvenile systemic lupus erythematosus with a baseline high interferon signature associates with increased immune cell TLR7 expression and enhanced TLR7 dependent IFNα production.
Presented at: 57th European Society of Paediatric Endocrinology Congress (ESPE), Athens, Greece.
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Whitehead, K;
Laudiano-Dray, P;
Pressler, R;
Meek, J;
Fabrizi, L;
(2018)
Somatosensory-evoked delta brush activity in very pre-term infants.
Presented at: 31st International Congress of Clinical Neurophysiology (ICCN) of the IFCN, Washington, DC, USA.
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Poster
TAN, TJ;
Garcia Canadilla, P;
Bjinens, B;
Dejea, H;
Bonnin, A;
Tran, V;
Arthurs, O;
... Cook, A; + view all
(2018)
Using micro-CT and X-PCI to visualize coronary morphology and ventriculo-coronary arterial connections in the setting of Pulmonary Atresia with Intact Ventricular Septum.
Presented at: UK Medical Careers Conference 2018, London, UK.
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Thesis
Alves Nery, Fábio Rui;
(2018)
Development of an optimised non-invasive MRI method to measure renal perfusion in patients with impaired renal function.
Doctoral thesis (Ph.D), UCL (University College London).
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Bonthrone, Alexandra Faye;
(2018)
Brain Imaging Correlates of Developmental Coordination Disorder and Associated Impairments.
Doctoral thesis (Ph.D), UCL (University College London).
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Day, KL;
(2018)
The Development Of Executive Functions And Information Processing Speeds In Toddlers Born Preterm.
Doctoral thesis (Ph.D), UCL (University College London).
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Hood, Anna;
(2018)
Biological Interventions to Improve Cognition in Children with Sickle Cell Disease.
Doctoral thesis (Ph.D), Washington University in St. Louis.
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McTague, Amy;
(2018)
The Molecular Genetic Investigation of Epilepsy of Infancy with Migrating Focal Seizures.
Doctoral thesis (Ph.D), UCL (University College London).
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