Browse by UCL Departments and Centres
Group by: Author | Type
Number of items: 217.
A
Abela, L;
Kurian, MA;
(2018)
Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.
Journal of Inherited Metabolic Disease
, 41
(6)
pp. 1077-1091.
10.1007/s10545-018-0205-0.
|
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.
|
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.
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
B
Baker, K;
Gordon, SL;
Melland, H;
Bumbak, F;
Scott, DJ;
Jiang, TJ;
Owen, D;
... Raymond, FL; + view all
(2018)
SYT1-associated neurodevelopmental disorder: a case series.
Brain
, 141
(9)
pp. 2576-2591.
10.1093/brain/awy209.
|
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).
|
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.
|
Baud, MO;
Perneger, T;
Rácz, A;
Pensel, MC;
Elger, C;
Rydenhag, B;
Malmgren, K;
... Seeck, M; + view all
(2018)
European trends in epilepsy surgery.
Neurology
, 91
(2)
E96-E106.
10.1212/WNL.0000000000005776.
|
Beslow, LA;
Dowling, MM;
Hassanein, SMA;
Lynch, JK;
Zafeiriou, D;
Sun, LR;
Kopyta, I;
... Lee, J; + view all
(2018)
Mortality After Pediatric Arterial Ischemic Stroke.
Pediatrics
, 141
(5)
, Article e20174146. 10.1542/peds.2017-4146.
|
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.
|
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.
|
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.
|
Bonthrone, Alexandra Faye;
(2018)
Brain Imaging Correlates of Developmental Coordination Disorder and Associated Impairments.
Doctoral thesis (Ph.D), UCL (University College London).
|
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.
|
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.
|
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.
|
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.
|
C
Catapano, F;
Domingos, J;
Perry, M;
Ricotti, V;
Phillips, L;
Servais, L;
Seferian, A;
... Muntoni, F; + view all
(2018)
Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients.
Epigenomics
, 10
(7)
pp. 875-889.
10.2217/epi-2018-0022.
|
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.
|
Charalambous, T;
Prados Carrasco, F;
Tur Gomez, C;
Kanber, B;
Ourselin, S;
Chard, D;
Clayden, JD;
... Toosy, A; + view all
(2018)
Longitudinal Analysis Framework of DWI Data for Reconstructing Structural Brain Networks with Application to Multiple Sclerosis.
In: Kaden, E and Grussu, F and Ning, L and Tax, CMW and Veraart, J, (eds.)
Computational Diffusion MRI.
(pp. pp. 205-218).
Springer: Cham, Switzerland.
|
Cossu, G;
Birchall, M;
Brown, T;
De Coppi, P;
Culme-Seymour, E;
Gibbon, S;
Hitchcock, J;
... Wilson, JGS; + view all
(2018)
Lancet Commission: Stem Cells and Regenerative Medicine.
The Lancet
, 391
(10123)
pp. 883-910.
10.1016/S0140-6736(17)31366-1.
|
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.
|
D
D'Arco, F;
Alves, CA;
Raybaud, C;
Chong, WKK;
Ishak, GE;
Ramji, S;
Grima, M;
... Ganesan, V; + view all
(2018)
Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations.
American Journal of Neuroradiology
, 39
(11)
pp. 2126-2131.
10.3174/ajnr.A5823.
|
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.
|
Day, KL;
(2018)
The Development Of Executive Functions And Information Processing Speeds In Toddlers Born Preterm.
Doctoral thesis (Ph.D), UCL (University College London).
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
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.
|
E
Eldar, E;
Roth, C;
Dayan, P;
Dolan, RJ;
(2018)
Decodability of Reward Learning Signals Predicts Mood Fluctuations.
Current Biology
, 28
(9)
1433-1439.e7.
10.1016/j.cub.2018.03.038.
|
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.
|
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.
|
Elward, RL;
Vargha-Khadem, F;
(2018)
Semantic Memory in Developmental Amnesia.
Neuroscience Letters
, 680
pp. 23-30.
10.1016/j.neulet.2018.04.040.
|
F
Faramand, AM;
Barnes, N;
Harrison, S;
Gunny, R;
Jacques, T;
Tahir, MZ;
Varadkar, SM;
... Tisdall, MM; + view all
(2018)
Seizure and cognitive outcomes after resection of glioneuronal tumors in children.
Epilepsia
, 59
(1)
pp. 170-178.
10.1111/epi.13961.
|
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.
|
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.
|
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.
|
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.
|
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.
|
G
Garavaglia, L;
Pagliano, E;
Baranello, G;
Pittaccio, S;
(2018)
Why orthotic devices could be of help in the management of Movement Disorders in the young.
Journal of NeuroEngineering and Rehabilitation
, 15
, Article 118. 10.1186/s12984-018-0466-8.
|
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.
|
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.
|
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.
|
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.
|
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.
|
H
Habib, AM;
Matsuyama, A;
Okorokov, AL;
Santana, S;
Bras, JT;
Aloisi, AM;
Emery, EC;
... Cox, JJ; + view all
(2018)
A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.
Brain
, 141
(2)
pp. 365-376.
10.1093/brain/awx326.
|
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.
|
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.
|
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.
|
Hayflick, SJ;
Kurian, MA;
Hogarth, P;
(2018)
Chapter 19 - Neurodegeneration with brain iron accumulation.
Handbook of Clinical Neurology
, 147
pp. 293-305.
10.1016/B978-0-444-63233-3.00019-1.
|
Hiller, M;
Falzarano, MS;
Garcia-Jimenez, I;
Sardone, V;
Verheul, RC;
Popplewell, L;
Anthony, K;
... Spitali, P; + view all
(2018)
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures.
PLoS One
, 13
(10)
, Article e0204485. 10.1371/journal.pone.0204485.
|
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.
|
Hood, Anna;
(2018)
Biological Interventions to Improve Cognition in Children with Sickle Cell Disease.
Doctoral thesis (Ph.D), Washington University in St. Louis.
|
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.
|
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.
|
Hutchinson, JC;
Kang, X;
Shelmerdine, SC;
Segers, V;
Lombardi, CM;
Cannie, MM;
Sebire, NJ;
... Arthurs, OJ; + view all
(2018)
Postmortem microfocus computed tomography for early gestation fetuses: a validation study against conventional autopsy.
American Journal of Obstetrics and Gynecology
, 218
(4)
10.1016/j.ajog.2018.01.040.
|
I
IJsselstijn, H;
Breatnach, C;
Hoskote, A;
Greenough, A;
Patel, N;
Capolupo, I;
Morini, F;
... CDH EURO Consortium Group; + view all
(2018)
Defining outcomes following congenital diaphragmatic hernia using standardised clinical assessment and management plan (SCAMP) methodology within the CDH EURO consortium.
Pediatric Research
, 84
pp. 181-189.
10.1038/s41390-018-0063-3.
|
Ito, Y;
Carss, KJ;
Duarte, ST;
Hartley, T;
Keren, B;
Kurian, MA;
Marey, I;
... Revel-Vilk, S; + view all
(2018)
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
American Journal of Human Genetics
, 103
(1)
pp. 144-153.
10.1016/j.ajhg.2018.06.001.
|
J
Jacob, M;
Saunders, DE;
Kawadler, JM;
Mussa, B;
Murdoch, R;
Lapidaire, W;
Tluway, F;
... Kirkham, FJ; + view all
(2018)
Neuroimaging in patients with sickle cell anemia: capacity building in Africa.
Blood Advances
, 2
(Suppl 1)
pp. 26-29.
10.1182/bloodadvances.2018GS112714.
|
Jay, M;
Thomas, B;
Nandi, R;
Howard, RF;
(2018)
On the Difficulties of Studying Pain Management in Individuals with Developmental Delay.
[Letter].
Pain Medicine
, 19
(7)
pp. 1503-1504.
10.1093/pm/pny011.
|
Jayakar, P;
Jayakar, A;
Libenson, M;
Arzimanoglou, A;
Rydenhag, B;
Cross, JH;
Bhatia, S;
... Gaillard, WD; + view all
(2018)
Epilepsy surgery near or in eloquent cortex in children—Practice patterns and recommendations for minimizing and reporting deficits.
Epilepsia
, 59
(8)
pp. 1484-1491.
10.1111/epi.14510.
|
Jin, B;
Krishnan, B;
Adler, S;
Wagstyl, K;
Hu, W;
Jones, S;
Najm, I;
... Wang, ZI; + view all
(2018)
Automated detection of focal cortical dysplasia type II with surface-based magnetic resonance imaging postprocessing and machine learning.
Epilepsia
, 59
(5)
pp. 982-992.
10.1111/epi.14064.
|
Jones, C;
Atkinson, P;
Cross, JH;
Reilly, C;
(2018)
Knowledge of and attitudes towards epilepsy among teachers: A systematic review.
Epilepsy & Behavior
, 87
pp. 59-68.
10.1016/j.yebeh.2018.06.044.
|
Jones, L;
Laudiano-Dray, MP;
Whitehead, K;
Verriotis, M;
Meek, J;
Fitzgerald, M;
Fabrizi, L;
(2018)
EEG, behavioural and physiological recordings following a painful procedure in human neonates.
Scientific Data
, 5
, Article 180248. 10.1038/sdata.2018.248.
|
Jones, S;
Moreland, NJ;
Zancolli, M;
Raynes, J;
Loh, JMS;
Smeesters, PR;
Sriskandan, S;
... Goldblatt, D; + view all
(2018)
Development of an Opsonophagocytic Killing Assay for Group A Streptococcus.
Vaccine
, 36
(26)
pp. 3756-3763.
10.1016/j.vaccine.2018.05.056.
|
Jones, V;
Wykes, V;
Cohen, N;
Thompson, D;
Jacques, TS;
(2018)
The Pathology of Lumbosacral Lipomas: Macroscopic and Microscopic Disparity Have Implications for Embryogenesis and Mode of Clinical Deterioration.
Histopathology
, 72
(7)
pp. 1136-1144.
10.1111/his.13469.
|
Jordan, LC;
Williams, DOR;
Rodeghier, MJ;
Covert, B;
Ponisio, MR;
Casella, JF;
McKinstry, RC;
... DeBaun, MR; + view all
(2018)
Children with sickle cell anemia with normal TCD and without silent infarcts have a low incidence of new strokes.
American Journal of Hematology
, 93
(6)
pp. 760-768.
10.1002/ajh.25085.
|
Jungbluth, H;
Treves, S;
Zorzato, F;
Sarkozy, A;
Ochala, J;
Sewry, C;
Phadke, R;
... Muntoni, F; + view all
(2018)
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.
[Review].
Nature Reviews Neurology
, 14
(3)
pp. 151-167.
10.1038/nrneurol.2017.191.
|
K
Kalser, J;
Cross, JH;
(2018)
The epileptic encephalopathy jungle – from Dr West to the concepts of aetiology-related and developmental encephalopathies.
Current Opinion in Neurology
, 31
(2)
pp. 216-222.
10.1097/WCO.0000000000000535.
|
King, DR;
de Chastelaine, M;
Elward, RL;
Wang, TH;
Rugg, MD;
(2018)
Dissociation between the neural correlates of recollection and familiarity in the striatum and hippocampus: Across-study convergence.
Behavioural Brain Research
, 354
pp. 1-7.
10.1016/j.bbr.2017.07.031.
|
Kingswood, JC;
Belousova, E;
Benedik, MP;
Carter, T;
Cottin, V;
Curatolo, P;
Dahlin, M;
... TOSCA Consortium and TOSCA Investigators; + view all
(2018)
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.
Nephrology Dialysis Transplantation
, Article gfy063. 10.1093/ndt/gfy063.
|
Kirkham, FJ;
Kawadler, JM;
Clark, CA;
Hales, PW;
Cox, TS;
Barker, S;
(2018)
Cerebral perfusion characteristics show differences in younger vs. older children with sickle cell anaemia: results from a multiple inflow time arterial spin labelling study.
NMR in Biomedicine
, 31
(6)
10.1002/nbm.3915.
|
Kirkham, FJ;
Keylock, A;
Saunders, D;
(2018)
Stroke in childhood neurofibromatosis type 2.
Developmental Medicine and Child Neurology
, 60
(12)
pp. 1199-1200.
10.1111/dmcn.13965.
|
Kirkham, FJ;
Shmueli, K;
(2018)
Brain iron in sickle cell disease?
[Editorial comment].
Blood
, 132
(15)
pp. 1550-1552.
10.1182/blood-2018-08-867010.
|
Kirkham, FJ;
Zafeiriou, D;
Howe, D;
Czarpran, P;
Harris, A;
Gunny, R;
Vollmer, B;
(2018)
Fetal stroke and cerebrovascular disease: Advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins.
European Journal of Paediatric Neurology
, 22
(6)
pp. 989-1005.
10.1016/j.ejpn.2018.08.008.
|
Knowles, RL;
Oerton, J;
Cheetham, T;
Butler, G;
Cavanagh, C;
Tetlow, L;
Dezateux, C;
(2018)
Newborn Screening for Primary Congenital Hypothyroidism: Estimating Test Performance at Different TSH Thresholds.
Journal of Clinical Endocrinology and Metabolism
, 103
(10)
pp. 3720-3728.
10.1210/jc.2018-00658.
|
Kobulashvili, T;
Kuchukhidze, G;
Brigo, F;
Zimmermann, G;
Hoefler, J;
Leitinger, M;
Dobesberger, J;
... E-PILEPSY consortium, .; + view all
(2018)
Diagnostic and prognostic value of noninvasive long-term video-electroencephalographic monitoring in epilepsy surgery: A systematic review and meta-analysis from the E-PILEPSY consortium.
Epilepsia
, 59
(12)
pp. 2272-2283.
10.1111/epi.14598.
|
Koelble, K;
Cross, JH;
Becker, A;
Bluemcke, I;
(2018)
A web-based diagnostic reference centre for the European Reference Network "EpiCare": recommendations of the eNeuropathology working group.
Epileptic Disorders
, 20
(5)
pp. 339-345.
10.1684/epd.2018.1002.
|
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.
|
Kolias, AG;
Edlmann, E;
Thelin, EP;
Bulters, D;
Holton, P;
Suttner, N;
Owusu-Agyemang, K;
... British Neurosurgical Trainee Research Collaborative (BNTRC) and, .; + view all
(2018)
Dexamethasone for adult patients with a symptomatic chronic subdural haematoma (Dex-CSDH) trial: study protocol for a randomised controlled trial.
Trials
, 19
(1)
, Article 670. 10.1186/s13063-018-3050-4.
|
Kossoff, EH;
Zupec-Kania, BA;
Auvin, S;
Ballaban-Gil, KR;
Christina Bergqvist, AG;
Blackford, R;
Buchhalter, JR;
... Practice Committee of the Child Neurology Society, .; + view all
(2018)
Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group.
Epilepsia Open
, 3
(2)
pp. 175-192.
10.1002/epi4.12225.
|
L
Lakowski, J;
Welby, E;
Budinger, D;
Di Marco, F;
Di Foggia, V;
Bainbridge, JWB;
Wallace, K;
... Sowden, JC; + view all
(2018)
Isolation of Human Photoreceptor Precursors via a Cell Surface Marker Panel from Stem Cell-derived Retinal Organoids and Fetal Retinae.
Stem Cells
10.1002/stem.2775.
(In press).
|
Lamberink, HJ;
Boshuisen, K;
Otte, WM;
Geleijns, K;
Braun, KPJ;
TimeToStop Study Group, .;
(2018)
Individualized prediction of seizure relapse and outcomes following antiepileptic drug withdrawal after pediatric epilepsy surgery.
Epilepsia
, 59
(3)
e28-e33.
10.1111/epi.14020.
|
Lamberink, HJ;
Geleijns, K;
Otte, WM;
Arzimanoglou, A;
Cross, JH;
Korff, CM;
Ramantani, G;
(2018)
Why the TimeToStop trial failed to recruit: a survey on antiepileptic drug withdrawal after paediatric epilepsy surgery.
Epileptic Disorders
, 20
(5)
pp. 374-385.
10.1684/epd.2018.1003.
|
Lange, J;
Haslett, LJ;
Lloyd-Evans, E;
Pocock, JM;
Sands, MS;
Williams, BP;
Cooper, JD;
(2018)
Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis.
Acta Neuropathologica Communications
, 6
, Article 74. 10.1186/s40478-018-0575-4.
|
Lascelles, K;
Afridi, S;
Siddiqui, A;
Hemingway, C;
Ferner, R;
Ganesan, V;
(2018)
Cerebral vasculopathy in childhood neurofibromatosis type 2: cause for concern?
Developmental Medicine and Child Neurology
, 60
(12)
pp. 1285-1288.
10.1111/dmcn.13920.
|
Lecce, F;
Robertson, F;
Rennie, A;
Heuchan, A-M;
Lister, P;
Bhate, S;
Bhattacharya, J;
... Ganesan, V; + view all
(2018)
Cross-sectional study of a UK cohort of neonatal vein of Galen malformation.
Annals of Neurology
, 84
(4)
pp. 547-555.
10.1002/ana.25316.
|
Lewis, C;
Hill, M;
Arthurs, OJ;
Hutchinson, C;
Chitty, LS;
Sebire, N;
(2018)
Factors Affecting Uptake of Postmortem Examination in the Prenatal, Perinatal and Paediatric Setting; a Systematic Review.
BJOG: An International Journal of Obstetrics and Gynaecology
, 125
(2)
pp. 172-181.
10.1111/1471-0528.14600.
|
Lewis, C;
Hill, M;
Arthurs, OJ;
Hutchinson, JC;
Chitty, LS;
Sebire, N;
(2018)
Health professionals’ and coroners’ views on less invasive perinatal and paediatric autopsy: a qualitative study.
Archives of Disease in Childhood
, 103
(6)
pp. 572-578.
10.1136/archdischild-2017-314424.
|
Lewis, C;
Latif, Z;
Hill, M;
Riddington, M;
Lakhanpaul, M;
Arthurs, OJ;
Hutchinson, JC;
... Sebire, NJ; + view all
(2018)
"We might get a lot more families who will agree": Muslim and Jewish perspectives on less invasive perinatal and paediatric autopsy.
PLoS One
, 13
(8)
, Article e0202023. 10.1371/journal.pone.0202023.
|
Li, C;
Wang, S;
Yan, J-L;
Piper, RJ;
Liu, H;
Torheim, T;
Kim, H;
... Price, SJ; + view all
(2018)
Intratumoral Heterogeneity of Glioblastoma Infiltration Revealed by Joint Histogram Analysis of Diffusion Tensor Imaging.
Neurosurgery
, Article nyy388. 10.1093/neuros/nyy388.
(In press).
|
Lin, H;
van Setten, J;
Smith, AV;
Bihlmeyer, NA;
Warren, HR;
Brody, JA;
Radmanesh, F;
... Isaacs, A; + view all
(2018)
Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval.
Circulation: Genomic and Precision Medicine
, 11
(5)
, Article e002037. 10.1161/CIRCGEN.117.002037.
|
Lochmüller, H;
Evans, D;
Farwell, W;
Finkel, R;
Goemans, N;
de Lemus, M;
Matyushenko, V;
... Wilson, P; + view all
(2018)
Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients.
Journal of Neuromuscular Diseases
, 5
(2)
pp. 131-133.
10.3233/JND-180325.
|
LoMauro, A;
Banfi, P;
Mastella, C;
Alberti, K;
Baranello, G;
Aliverti, A;
(2018)
A New Method for Measuring Bell-Shaped Chest Induced by Impaired Ribcage Muscles in Spinal Muscular Atrophy Children.
Frontiers in Neurology
, 9
, Article 703. 10.3389/fneur.2018.00703.
|
M
Makani, J;
Tluway, F;
Makubi, A;
Soka, D;
Nkya, S;
Sangeda, R;
Mgaya, J;
... Mmbando, BP; + view all
(2018)
A ten year review of the sickle cell program in Muhimbili National Hospital, Tanzania.
BMC Hematology
, 18
(33)
10.1186/s12878-018-0125-0.
|
Marsollier, A-C;
Joubert, R;
Mariot, V;
Dumonceaux, J;
(2018)
Targeting the polyadenylation signal of pre-mRNA: a new gene silencing approach for Facioscapulohumeral dystrophy.
International Journal of Molecular Sciences
, 19
(5)
, Article 1347. 10.3390/ijms19051347.
|
Marti-Sanchez, L;
Ortigoza-Escobar, JD;
Darling, A;
Villaronga, M;
Baide, H;
Molero-Luis, M;
Batllori, M;
... Duenas, P; + view all
(2018)
Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.
Orphanet Journal of Rare Diseases
, 13
, Article 28. 10.1186/s13023-018-0758-x.
|
Matthews, E;
Hartley, L;
Sud, R;
Hanna, MG;
Muntoni, F;
Munot, P;
(2018)
Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy.
[Letter].
Journal of Neurology, Neurosurgery and Psychiatry
10.1136/jnnp-2017-317849.
|
McDowell, AR;
Shelmerdine, SC;
Carmichael, DW;
Arthurs, OJ;
(2018)
High resolution isotropic diffusion imaging in post-mortem neonates: a feasibility study.
[Rapid communication].
The British Journal of Radiology
, 91
(1092)
, Article 20180319. 10.1259/bjr.20180319.
|
McTague, A;
Martland, T;
Appleton, R;
(2018)
Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children.
Cochrane Database of Systematic Reviews
, 1
, Article CD001905. 10.1002/14651858.CD001905.pub3.
|
McTague, A;
Nair, U;
Malhotra, S;
Meyer, E;
Trump, N;
Gazina, EV;
Papandreou, A;
... Kurian, MA; + view all
(2018)
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
Neurology
, 90
(1)
e55-e66.
10.1212/WNL.0000000000004762.
|
McTague, Amy;
(2018)
The Molecular Genetic Investigation of Epilepsy of Infancy with Migrating Focal Seizures.
Doctoral thesis (Ph.D), UCL (University College London).
|
Meng, J;
Muntoni, F;
Morgan, J;
(2018)
CD133+cells derived from skeletal muscles of Duchenne muscular dystrophy patients have a compromised myogenic and muscle regenerative capability.
Stem Cell Research
, 30
pp. 43-52.
10.1016/j.scr.2018.05.004.
|
Mercuri, E;
Finkel, RS;
Muntoni, F;
Wirth, B;
Montes, J;
Main, M;
Mazzone, ES;
... SMA Care Group, .; + view all
(2018)
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Neuromuscular Disorders
, 28
(2)
pp. 103-115.
10.1016/j.nmd.2017.11.005.
|
Mitrasinovic, S;
Brown, APY;
Schaefer, AT;
Chang, SD;
Appelboom, G;
(2018)
Silicon Valley new focus on brain computer interface: hype or hope for new applications?
F1000Research
, 7
, Article 1327. 10.12688/f1000research.15726.1.
|
Montes, J;
McDermott, MP;
Mirek, E;
Mazzone, ES;
Main, M;
Glanzman, AM;
Duong, T;
... Mercuri, E; + view all
(2018)
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.
PLoS ONE
, 13
(6)
, Article e0199657. 10.1371/journal.pone.0199657.
|
Morgan, AT;
Murray, E;
Liégeois, FJ;
(2018)
Interventions for childhood apraxia of speech.
Cochrane Database of Systematic Reviews
, 2018
(5)
, Article CD006278. 10.1002/14651858.CD006278.pub3.
|
Morgan, AT;
Su, M;
Reilly, S;
Conti-Ramsden, G;
Connelly, A;
Liegeois, FJ;
(2018)
A Brain Marker for Developmental Speech Disorders.
The Journal of Pediatrics
, 198
pp. 234-239.
10.1016/j.jpeds.2018.02.043.
|
Morgan, JE;
Prola, A;
Mariot, V;
Pini, V;
Meng, J;
Hourde, C;
Dumonceaux, J;
... Bencze, M; + view all
(2018)
Necroptosis mediates myofibre death in dystrophin-deficient mice.
Nature Communications
, 9
, Article 3655. 10.1038/s41467-018-06057-9.
|
Morgan, JE;
Prola, A;
Mariot, V;
Pini, V;
Meng, J;
Hourde, C;
Dumonceaux, J;
... Bencze, M; + view all
(2018)
Publisher Correction: Necroptosis Mediates Myofibre Death in Dystrophin-deficient Mice.
[Corrigendum].
Nature Communications
, 9
(1)
, Article 4107. 10.1038/s41467-018-06636-w.
|
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).
|
Muschelli, J;
Gherman, A;
Fortin, J-P;
Avants, B;
Whitcher, B;
Clayden, JD;
Caffo, BS;
(2018)
Neuroconductor: an R platform for medical imaging analysis.
Biostatistics
, Article kxx068. 10.1093/biostatistics/kxx068.
(In press).
|
Myers, KA;
Lightfoot, P;
Patil, SG;
Cross, JH;
Scheffer, IE;
(2018)
Stiripentol efficacy and safety in Dravet syndrome: a 12-year observational study.
Developmental Medicine and Child Neurology
, 60
(6)
pp. 574-578.
10.1111/dmcn.13704.
|
N
Naeem, K;
Filippi, R;
Periche-Tomas, E;
Papageorgiou, A;
Bright, P;
(2018)
The Importance of Socioeconomic Status as a Modulator of the Bilingual Advantage in Cognitive Ability.
Frontiers in Psychology
, 9
, Article 1818. 10.3389/fpsyg.2018.01818.
|
Nery, F;
De Vita, E;
Clark, CA;
Gordon, I;
Thomas, DL;
(2018)
Robust kidney perfusion mapping in pediatric chronic kidney disease using single-shot 3D-GRASE ASL with optimized retrospective motion correction.
Magnetic Resonance in Medicine
10.1002/mrm.27614.
(In press).
|
Nery, F;
Gordon, I;
Thomas, DL;
(2018)
Non-Invasive Renal Perfusion Imaging Using Arterial Spin Labeling MRI: Challenges and Opportunities.
Diagnostics
, 8
(1)
, Article 2. 10.3390/diagnostics8010002.
|
Northam, GB;
Adler, S;
Eschmann, KCJ;
Chong, WK;
Cowan, FM;
Baldeweg, T;
(2018)
Developmental conduction aphasia after neonatal stroke.
Annals of Neurology
, 83
(4)
pp. 664-675.
10.1002/ana.25218.
|
O
O'Callaghan, FJK;
Edwards, SW;
Dietrich Alber, F;
Cortina Borja, M;
Hancock, E;
Johnson, AL;
Kennedy, CR;
... Osborne, JP; + view all
(2018)
Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial.
The Lancet Child & Adolescent Health
, 2
(10)
pp. 715-725.
10.1016/S2352-4642(18)30244-X.
|
O'Reilly, H;
Eltze, C;
Bennett, K;
Verhaert, K;
Webb, R;
Merrett, A;
Scott, RC;
... de Haan, M; + view all
(2018)
Cognitive outcomes following epilepsy in infancy: A longitudinal community-based study.
Epilepsia
, 59
(12)
pp. 2240-2248.
10.1111/epi.14589.
|
Odudu, A;
Nery, F;
Harteveld, AA;
Evans, RG;
Pendse, D;
Buchanan, CE;
Francis, ST;
(2018)
Arterial spin labelling MRI to measure renal perfusion: a systematic review and statement paper.
Nephrology Dialysis Transplantation
, 33
(suppl_2)
ii15-ii21.
10.1093/ndt/gfy180.
|
P
Pane, M;
Coratti, G;
Brogna, C;
Mazzone, ES;
Mayhew, A;
Fanelli, L;
Messina, S;
... Mercuri, E; + view all
(2018)
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.
PLoS One
, 13
(6)
, Article e0199223. 10.1371/journal.pone.0199223.
|
Papageorgiou, A;
Bright, P;
Periche Tomas, E;
Filippi, R;
(2018)
Evidence against a cognitive advantage in the older bilingual population.
Quarterly Journal of Experimental Psychology
, 72
(6)
pp. 1354-1363.
10.1177/1747021818796475.
|
Papandreou, A;
Rahman, S;
Fratter, C;
Ng, J;
Meyer, E;
Carr, LJ;
Champion, M;
... Kurian, MA; + view all
(2018)
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.
Journal of Inherited Metabolic Disease
, 41
(6)
pp. 1275-1283.
10.1007/s10545-018-0227-7.
|
Parker, C;
Clayden, J;
Cardoso, M;
Rodionov, R;
Duncan, J;
Scott, C;
Diehl, B;
(2018)
Structural and effective connectivity in focal epilepsy.
NeuroImage: Clinical
, 17
pp. 943-952.
10.1016/j.nicl.2017.12.020.
|
Pecheva, D;
Kelly, C;
Kimpton, J;
Bonthrone, A;
Batalle, D;
Zhang, H;
Counsell, SJ;
(2018)
Recent advances in diffusion neuroimaging: applications in the developing preterm brain.
F1000Research
, 7
, Article 1326. 10.12688/f1000research.15073.1.
|
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.
|
Prins, BP;
Mead, TJ;
Brody, JA;
Sveinbjornsson, G;
Ntalla, I;
Bihlmeyer, NA;
van den Berg, M;
... Jamshidi, Y; + view all
(2018)
Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.
Genome Biology
, 19
, Article 87. 10.1186/s13059-018-1457-6.
|
Prussien, KV;
Salihu, A;
Abdullahi, SU;
Galadanci, NA;
Bulama, K;
Belonwu, RO;
Kirkham, FJ;
... Compas, BE; + view all
(2018)
Associations of transcranial doppler velocity, age, and gender with cognitive function in children with sickle cell anemia in Nigeria.
Child Neuropsychology
, 25
(6)
pp. 705-720.
10.1080/09297049.2018.1526272.
|
Pujar, SS;
Martinos, MM;
Cortina-Borja, M;
Chong, WKK;
De Haan, M;
Gillberg, C;
Neville, BG;
... Chin, RF; + view all
(2018)
Long-term prognosis after childhood convulsive status epilepticus: a prospective cohort study.
The Lancet Child and Adolescent Health
, 2
(2)
pp. 103-111.
10.1016/S2352-4642(17)30174-8.
|
R
Ravenscroft, G;
Zaharieva, I;
Bortolotti, CA;
Lambrughi, M;
Pignataro, M;
Borsari, M;
Sewry, CA;
... Muntoni, F; + view all
(2018)
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Human Molecular Genetics
, 27
(24)
pp. 4263-4272.
10.1093/hmg/ddy320.
|
Reilly, C;
Atkinson, P;
Memon, A;
Jones, C;
Dabydeen, L;
Cross, JH;
Das, KB;
... Scott, RC; + view all
(2018)
Child and parental sleep in young children with epilepsy: A population-based case-control study.
Epilepsia Open
, 3
(3)
pp. 383-391.
10.1002/epi4.12241.
|
Reilly, C;
Atkinson, P;
Memon, A;
Jones, C;
Dabydeen, L;
Das, KB;
Cross, JH;
... Scott, RC; + view all
(2018)
Parenting stress and perceived stigma in mothers of young children with epilepsy: A case-control study.
Epilepsy & Behavior
, 89
pp. 112-117.
10.1016/j.yebeh.2018.10.016.
|
Rosch, RE;
Hunter, PR;
Baldeweg, T;
Friston, KJ;
Meyer, MP;
(2018)
Calcium imaging and dynamic causal modelling reveal brain-wide changes in effective connectivity and synaptic dynamics during epileptic seizures.
PLoS Computational Biology
, 14
(8)
, Article e1006375. 10.1371/journal.pcbi.1006375.
|
Rosch, RE;
Wright, S;
Cooray, G;
Papadopoulou, M;
Goyal, S;
Lim, M;
Vincent, A;
... Friston, KJ; + view all
(2018)
NMDA-receptor antibodies alter cortical microcircuit dynamics.
Proceedings of the National Academy of Sciences
, 115
(42)
E9916-E9925.
10.1073/pnas.1804846115.
|
Rouillon, J;
Lefebvre, T;
Denard, J;
Puy, V;
Daher, R;
Ausseil, J;
Zocevic, A;
... Svinartchouk, F; + view all
(2018)
High urinary ferritin reflects myoglobin iron evacuation in DMD patients.
Neuromuscular Disorders
, 28
(7)
pp. 564-571.
10.1016/j.nmd.2018.03.008.
|
Rudebeck, SR;
Shavel-Jessop, S;
Varadkar, S;
Owen, T;
Cross, JH;
Vargha-Khadem, F;
Baldeweg, T;
(2018)
Pre- and postsurgical cognitive trajectories and quantitative MRI changes in Rasmussen syndrome.
Epilepsia
, 59
(6)
pp. 1210-1219.
10.1111/epi.14192.
|
S
Sakkalou, E;
Sakki, H;
O'reilly, MA;
Salt, AT;
Dale, NJ;
(2018)
Parenting stress, anxiety, and depression in mothers with visually impaired infants: a cross‐sectional and longitudinal cohort analysis.
Developmental Medicine & Child Neurology
, 60
(3)
pp. 290-298.
10.1111/dmcn.13633.
|
Salter, CG;
Beijer, D;
Hardy, H;
Barwick, KES;
Bower, M;
Mademan, I;
De Jonghe, P;
... Crosby, AH; + view all
(2018)
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.
Neurology Genetics
, 4
(2)
, Article e222. 10.1212/NXG.0000000000000222.
|
Sardone, V;
Ellis, M;
Torelli, S;
Feng, L;
Chambers, D;
Eastwood, D;
Sewry, C;
... Muntoni, F; + view all
(2018)
A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples.
PLoS One
, 13
(3)
, Article e0194540. 10.1371/journal.pone.0194540.
|
Sarkozy, A;
Torelli, S;
Mein, R;
Henderson, M;
Phadke, R;
Feng, L;
Sewry, CA;
... Muntoni, F; + view all
(2018)
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
Journal of Neurology, Neurosurgery and Psychiatry
, 89
(7)
pp. 762-768.
10.1136/jnnp-2017-316956.
|
Schoeler, NE;
Leu, C;
Balestrini, S;
Mudge, JM;
Steward, CA;
Frankish, A;
Leung, M-A;
... Sisodiya, SM; + view all
(2018)
Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy.
Epilepsia
10.1111/epi.14516.
|
Scoto, M;
Finkel, R;
Mercuri, E;
Muntoni, F;
(2018)
Genetic therapies for inherited neuromuscular disorders.
The Lancet Child & Adolescent Health
, 2
(8)
pp. 600-609.
10.1016/S2352-4642(18)30140-8.
|
Selby, NM;
Blankestijn, PJ;
Boor, P;
Combe, C;
Eckardt, K-U;
Eikefjord, E;
Garcia-Fernandez, N;
... Sourbron, S; + view all
(2018)
Magnetic resonance imaging biomarkers for chronic kidney disease: a position paper from the European Cooperation in Science and Technology Action PARENCHIMA.
Nephrology Dialysis Transplantation
, 33
(suppl_2)
ii4-ii14.
10.1093/ndt/gfy152.
|
Shelmerdine, SC;
Hutchinson, JC;
Al-Sarraj, S;
Cary, N;
Dawson, T;
Plessis, DD;
Ince, PG;
... International Society of Forensic Radiology and Imaging, .; + view all
(2018)
British Neuropathological Society and International Society of Forensic Radiology and Imaging expert consensus statement for post mortem neurological imaging.
Neuropathology and Applied Neurobiology
, 44
(7)
pp. 663-672.
10.1111/nan.12482.
|
Shelmerdine, SC;
Hutchinson, JC;
Kang, X;
Suich, JD;
Ashworth, M;
Cannie, MM;
Segers, V;
... Arthurs, OJ; + view all
(2018)
Novel usage of microfocus computed tomography (micro-CT) for visualisation of human embryonic development-Implications for future non-invasive post-mortem investigation.
Prenatal Diagnosis
, 38
(7)
pp. 538-542.
10.1002/pd.5281.
|
Shelmerdine, SC;
Langan, D;
Hutchinson, JC;
Hickson, M;
Pawley, K;
Suich, J;
Palm, L;
... DRIFT Study Research group; + view all
(2018)
Chest radiographs versus CT for the detection of rib fractures in children (DRIFT): a diagnostic accuracy observational study.
The Lancet Child & Adolescent Health
, 2
(11)
pp. 802-811.
10.1016/S2352-4642(18)30274-8.
|
Shelmerdine, SC;
Main, C;
Hutchinson, JC;
Langan, D;
Sebire, NJ;
Arthurs, OJ;
(2018)
The use of whole body diffusion-weighted post-mortem magnetic resonance imaging in timing of perinatal deaths.
International Journal of Legal Medicine
10.1007/s00414-018-1906-5.
|
Shelmerdine, SC;
Simcock, IC;
Hutchinson, JC;
Aughwane, R;
Melbourne, A;
Nikitichev, DI;
Ong, J-L;
... Arthurs, OJ; + view all
(2018)
3D printing from microfocus computed tomography (micro-CT) in human specimens: education and future implications.
British Journal of Radiology
, 91
(1088)
, Article 20180306. 10.1259/bjr.20180306.
|
Sidlauskaite, E;
Gibson, JW;
Megson, IL;
Whitfield, PD;
Tovmasyan, A;
Batinic-Haberle, I;
Murphy, MP;
... Cobley, JN; + view all
(2018)
Mitochondrial ROS cause motor deficits induced by synaptic inactivity: Implications for synapse pruning.
Redox Biology
, 16
pp. 344-351.
10.1016/j.redox.2018.03.012.
|
Silveira-Moriyama, L;
Kovac, S;
Kurian, MA;
Houlden, H;
Lees, AJ;
Walker, MC;
Roze, E;
... Warner, TT; + view all
(2018)
Phenotypes, genotypes, and the management of paroxysmal movement disorders.
Development Medicine and Child Neurology
, 60
(6)
pp. 559-565.
10.1111/dmcn.13744.
|
Silwal, A;
Pitt, M;
Phadke, R;
Mankad, K;
Davison, JE;
Rossor, A;
DeVile, C;
... Munot, P; + view all
(2018)
Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.
Neuromuscular Disorders
, 28
(9)
pp. 757-765.
10.1016/j.nmd.2018.06.001.
|
Slatter, MA;
Rao, K;
Abd Hamid, IJ;
Nademi, Z;
Chiesa, R;
Elfeky, R;
Pearce, MS;
... Veys, P; + view all
(2018)
Treosulfan, Fludarabine Conditioning for HSCT in Children with Primary Immunodeficiency: UK Experience.
Biology of Blood and Marrow Transplantation
, 24
(3)
pp. 529-536.
10.1016/j.bbmt.2017.11.009.
|
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.
|
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.
|
Smith, Martin;
Kurian, Manju;
(2018)
Neurological gait disorders in childhood.
[Review].
Paediatrics and Child Health
, 28
(10)
pp. 454-458.
10.1016/j.paed.2018.07.006.
|
Spitali, P;
Hettne, K;
Tsonaka, R;
Charrout, M;
van den Bergen, J;
Koeks, Z;
Kan, HE;
... Aartsma-Rus, A; + view all
(2018)
Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies.
Journal of Cachexia, Sarcopenia and Muscle
, 9
(4)
pp. 715-726.
10.1002/jcsm.12304.
|
Stacey, A;
Toolis, C;
Ganesan, V;
(2018)
Rates and Risk Factors for Arterial Ischemic Stroke Recurrence in Children.
Stroke
, 49
(4)
pp. 842-847.
10.1161/STROKEAHA.117.020159.
|
Stone, TJ;
Keeley, A;
Virasami, A;
Harkness, W;
Tisdall, M;
Izquierdo Delgado, E;
Gutteridge, A;
... Jacques, TS; + view all
(2018)
Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours.
Acta Neuropathologica
, 135
(1)
pp. 115-129.
10.1007/s00401-017-1773-z.
|
Stotesbury, H;
Hales, P;
Kirkham, F;
(2018)
The promise of non-invasive cerebral hemodynamic assessment in Sickle Cell Anemia.
Neurology Journal
, 90
(13)
pp. 585-586.
10.1212/WNL.0000000000005236.
|
Stotesbury, H;
Kirkham, F;
Koelbel, M;
Balfour, P;
Clayden, J;
Sahota, S;
Sarkaria, S;
... Kawadler, J; + view all
(2018)
White Matter Integrity and Processing Speed in Sickle Cell Anemia.
Neurology
, 90
(23)
e2042-e2050.
10.1212/WNL.0000000000005644.
|
Strasser, L;
Downes, M;
Kung, J;
Cross, JH;
De Haan, M;
(2018)
Prevalence and risk factors for autism spectrum disorder in epilepsy: a systematic review and meta-analysis.
Developmental Medicine and Child Neurology
, 60
(1)
pp. 19-29.
10.1111/dmcn.13598.
|
Stricker, PA;
de Graaff, JC;
Vutskits, L;
Muhly, WT;
Xu, T;
Torborg, AM;
Jiang, Y;
... Pediatric Perioperative Outcomes Group, .; + view all
(2018)
Pediatric perioperative outcomes group: Defining core outcomes for pediatric anesthesia and perioperative medicine.
Pediatric Anesthesia
, 28
(4)
pp. 314-315.
10.1111/pan.13354.
|
Suman, M;
Sharpe, JA;
Bentham, RB;
Kotiadis, VN;
Menegollo, M;
Pignataro, V;
Molgó, J;
... Szabadkai, G; + view all
(2018)
Inositol Trisphosphate Receptor Mediated Ca2+ Signalling Stimulates Mitochondrial Function and Gene Expression in Core Myopathy Patients.
Human Molecular Genetics
, 27
(13)
pp. 2367-2382.
10.1093/hmg/ddy149.
|
T
TAN, TJ;
Garcia Canadilla, P;
Bjinens, B;
Dejea, H;
Bonnin, A;
Tran, V;
Arthurs, O;
... Cook, A; + view all
(2018)
Using micro-CT and X-PCI to visualize coronary morphology and ventriculo-coronary arterial connections in the setting of Pulmonary Atresia with Intact Ventricular Septum.
Presented at: UK Medical Careers Conference 2018, London, UK.
|
Tewari, S;
Renney, G;
Brewin, J;
Gardner, K;
Kirkham, F;
Inusa, B;
Barrett, JE;
... Reese, DC; + view all
(2018)
Proteomic analysis of plasma from children with sickle cell anemia and silent cerebral infarction.
Haematologica
, 103
(7)
pp. 1136-1142.
10.3324/haematol.2018.187815.
|
Tho-Calvi, S;
Thompson, D;
Saunders, D;
Agrawal, S;
Basu, A;
Chitre, M;
Chow, G;
... Ganesan, V; + view all
(2018)
Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya.
Neurology
, 90
(9)
e763-e767.
10.1212/WNL.0000000000005026.
|
Thyoka, M;
Adekunle, O;
Pilkington, C;
Walters, S;
Arthurs, OJ;
Humphries, P;
Johnson, K;
... Offiah, AC; + view all
(2018)
Introduction of a novel magnetic resonance imaging-based scoring system for assessing disease activity in children with juvenile dermatomyositis.
Rheumatology
, 57
(9)
pp. 1661-1668.
10.1093/rheumatology/key144.
|
Tierney, TM;
Holmes, N;
Meyer, SS;
Boto, E;
Roberts, G;
Leggett, J;
Buck, S;
... Barnes, GR; + view all
(2018)
Cognitive neuroscience using wearable magnetometer arrays: Non-invasive assessment of language function.
NeuroImage
, 181
pp. 513-520.
10.1016/j.neuroimage.2018.07.035.
|
Tiziano, FD;
Lomastro, R;
Abiusi, E;
Pasanisi, MB;
Di Pietro, L;
Fiori, S;
Baranello, G;
... Morandi, L; + view all
(2018)
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.
Journal of Medical Genetics
10.1136/jmedgenet-2018-105482.
(In press).
|
Toescu, SM;
Hales, PW;
Aquilina, K;
Clark, CA;
(2018)
Quantitative MRI in post-operative paediatric cerebellar mutism syndrome.
European Journal of Radiology
, 108
pp. 43-51.
10.1016/j.ejrad.2018.09.007.
|
Toescu, SM;
Hettige, S;
Phipps, K;
Smith, RJP;
Haffenden, V;
Clark, C;
Hayward, R;
... Aquilina, K; + view all
(2018)
Post-operative paediatric cerebellar mutism syndrome: time to move beyond structural MRI.
Child's Nervous System
, 34
(11)
pp. 2249-2257.
10.1007/s00381-018-3867-x.
|
Toescu, SM;
James, G;
Phipps, K;
Jeelani, O;
Thompson, D;
Hayward, R;
Aquilina, K;
(2018)
Intracranial Neoplasms in the First Year of Life: Results of a Third Cohort of Patients From a Single Institution.
Neurosurgery
, 84
(3)
pp. 636-646.
10.1093/neuros/nyy081.
|
Tur, C;
Eshaghi, A;
Altmann, DR;
Jenkins, TM;
Prados, F;
Grussu, F;
Charalambous, T;
... Toosy, AT; + view all
(2018)
Structural cortical network reorganization associated with early conversion to multiple sclerosis.
Scientific Reports
, 8
, Article 10715. 10.1038/s41598-018-29017-1.
|
Twomey, DM;
Wrigley, C;
Ahearne, C;
Murphy, R;
De Haan, M;
Marlow, N;
Murray, DM;
(2018)
Feasibility of using touch screen technology for early cognitive assessment in children.
Archives of Disease in Childhood
, 103
(9)
pp. 853-858.
10.1136/archdischild-2017-314010.
|
Tye, C;
Thomas, LE;
Sampson, JR;
Lewis, J;
O'Callaghan, F;
Yates, JRW;
Bolton, PF;
(2018)
Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?
Epilepsia Open
, 3
(2)
pp. 276-280.
10.1002/epi4.12111.
|
U
Ullmann, U;
D’Argenzio, L;
Mathur, S;
Whyte, T;
Quinlivan, R;
Longman, C;
Farrugia, ME;
... Muntoni, F; + view all
(2018)
ECEL1 gene related contractural syndrome: long-term follow-up and update on clinical and pathological aspects.
Neuromuscular Disorders
, 28
(9)
pp. 741-749.
10.1016/j.nmd.2018.05.012.
|
Unni, MNM;
Elfeky, R;
Rao, K;
Nademi, Z;
Chiesa, R;
Amrolia, P;
Skinner, R;
... Slatter, MA; + view all
(2018)
Non-posttransplant lymphoproliferative disorder malignancy after hematopoietic stem cell transplantation in patients with primary immunodeficiency: UK experience.
Journal of Allergy and Clinical Immunology
, 141
(6)
2319-2321.e1.
10.1016/j.jaci.2018.02.038.
|
Urciuolo, A;
Urbani, L;
Perin, S;
Maghsoudlou, PL;
Scottoni, F;
Gjinovci, A;
Collins-Hooper, H;
... De Coppi, P; + view all
(2018)
Decellularised skeletal muscles allow functional muscle regeneration by promoting host cell migration.
Scientific Reports
, 8
, Article 8398. 10.1038/s41598-018-26371-y.
|
V
van Setten, J;
Brody, JA;
Jamshidi, Y;
Swenson, BR;
Butler, AM;
Campbell, H;
Del Greco, FM;
... Sotoodehnia, N; + view all
(2018)
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.
Nature Communications
, 9
(1)
, Article 2904. 10.1038/s41467-018-04766-9.
|
Verbruggen, SW;
Kainz, B;
Shelmerdine, SC;
Arthurs, OJ;
Hajnal, JV;
Rutherford, MA;
Phillips, ATM;
(2018)
Altered biomechanical stimulation of the developing hip joint in presence of hip dysplasia risk factors.
Journal of Biomechanics
, 78
pp. 1-9.
10.1016/j.jbiomech.2018.07.016.
|
Verbruggen, SW;
Kainz, B;
Shelmerdine, SC;
Hajnal, JV;
Rutherford, MA;
Arthurs, OJ;
Phillips, ATM;
(2018)
Stresses and strains on the human fetal skeleton during development.
Interface
, 15
(138)
, Article 20170593. 10.1098/rsif.2017.0593.
|
Verity, C;
Winstone, AM;
Will, R;
Powell, A;
Baxter, P;
de Sousa, C;
Gissen, P;
... Zuberi, S; + view all
(2018)
Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies?
Archives of Disease in Childhood
10.1136/archdischild-2018-315458.
(In press).
|
Verriotis, M;
Jones, L;
Whitehead, K;
Laudiano-Dray, M;
Panayotidis, I;
Patel, H;
Meek, J;
... Fitzgerald, M; + view all
(2018)
The distribution of pain activity across the human neonatal brain is sex dependent.
NeuroImage
, 178
pp. 69-77.
10.1016/j.neuroimage.2018.05.030.
|
Vicari, S;
Piccini, G;
Mercuri, E;
Battini, R;
Chieffo, D;
Bulgheroni, S;
Pecini, C;
... Alfieri, P; + view all
(2018)
Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?
PLoS One
, 13
(1)
, Article e0191164. 10.1371/journal.pone.0191164.
|
Vigevano, F;
Kirkham, FJ;
Wilken, B;
Raspall-Chaure, M;
Grebla, R;
Lee, D;
Werner-Kiechle, T;
(2018)
Effect of rescue medication on seizure duration in non-institutionalized children with epilepsy.
European Journal of Paediatric Neurology
, 22
(1)
pp. 56-63.
10.1016/j.ejpn.2017.07.017.
|
Villaluz, MM;
Lomax, LB;
Jadhav, T;
Cross, JH;
Scheffer, IE;
(2018)
The ketogenic diet is effective for refractory epilepsy associated with acquired structural epileptic encephalopathy.
Developmental Medicine and Child Neurology
, 60
(7)
pp. 718-723.
10.1111/dmcn.13687.
|
W
Walker, SM;
Melbourne, A;
O'Reilly, H;
Beckmann, J;
Eaton-Rosen, Z;
Ourselin, S;
Marlow, N;
(2018)
Somatosensory function and pain in extremely preterm young adults from the UK EPICure cohort: sex-dependent differences and impact of neonatal surgery.
British Journal of Anaesthesia
10.1016/j.bja.2018.03.035.
(In press).
|
Walker, SM;
Moriarty, O;
Harrington, L;
Beggs, S;
(2018)
Opioid analgesia and the somatosensory memory of neonatal surgical injury in the adult rat.
British Journal of Anaesthesia
, 121
(1)
pp. 314-324.
10.1016/j.bja.2017.11.111.
|
Walker, SM;
O'Reilly, H;
Beckmann, J;
Marlow, N;
EPICure@19 Study Group, .;
(2018)
Conditioned pain modulation identifies altered sensitivity in extremely preterm young adult males and females.
British Journal of Anaesthesia
, 121
(3)
pp. 636-646.
10.1016/j.bja.2018.05.066.
|
Wasala, NB;
Shin, J-H;
Lai, Y;
Yue, Y;
Montanaro, F;
Duan, D;
(2018)
Cardiac-Specific Expression of ΔH2-R15 Mini-Dystrophin Normalized All Electrocardiogram Abnormalities and the End-Diastolic Volume in a 23-Month-Old Mouse Model of Duchenne Dilated Cardiomyopathy.
Human Gene Therapy
, 29
(7)
pp. 737-748.
10.1089/hum.2017.144.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
Z
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.
|
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.
|
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.
|