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Number of items: 44.
Article
Anthony, K;
Arechavala-Gomeza, V;
Ricotti, V;
Torelli, S;
Feng, L;
Janghra, N;
Tasca, G;
... Muntoni, F; + view all
(2014)
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping.
JAMA Neurology
, 71
(1)
32 - 40.
10.1001/jamaneurol.2013.4908.
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Anthony, K;
Arechavala-Gomeza, V;
Taylor, LE;
Vulin, A;
Kaminoh, Y;
Torelli, S;
Feng, L;
... Muntoni, F; + view all
(2014)
Dystrophin quantification: Biological and translational research implications.
Neurology
, 83
(22)
2062 - 2069.
10.1212/WNL.0000000000001025.
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Arthurs, OJ;
Graves, MJ;
Edwards, AD;
Joubert, I;
Set, PAK;
Lomas, DJ;
(2014)
Interactive neonatal gastrointestinal magnetic resonance imaging using fruit juice as an oral contrast media.
BMC Medical Imaging
, 14
(1)
33 - ?.
10.1186/1471-2342-14-33.
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Arthurs, OJ;
Thayyil, S;
Olsen, OE;
Addison, S;
Wade, A;
Jones, R;
Norman, W;
... Owens, CM; + view all
(2014)
Diagnostic accuracy of post-mortem MRI for thoracic abnormalities in fetuses and children.
European Radiology
, 24
(11)
pp. 2876-2884.
10.1007/s00330-014-3313-8.
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Baple, EL;
Maroofian, R;
Chioza, BA;
Izadi, M;
Cross, HE;
Al-Turki, S;
Barwick, K;
... Crosby, AH; + view all
(2014)
Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures.
The American Journal of Human Genetics
, 94
(1)
pp. 87-94.
10.1016/j.ajhg.2013.10.001.
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Botcharova, M;
Farmer, SF;
Berthouze, L;
(2014)
Markers of criticality in phase synchronization.
Front Syst Neurosci
, 8
, Article 176. 10.3389/fnsys.2014.00176.
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Bushby, K;
Finkel, R;
Wong, B;
Barohn, R;
Campbell, C;
Comi, GP;
Connolly, AM;
... McDonald, CM; + view all
(2014)
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Muscle and Nerve
, 50
(4)
pp. 477-487.
10.1002/mus.24332.
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Cole, TJ;
Pan, H;
Butler, GE;
(2014)
A mixed effects model to estimate timing and intensity of pubertal growth from height and secondary sexual characteristics.
Annals of Human Biology
, 41
(1)
76 - 83.
10.3109/03014460.2013.856472.
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Collins, CDE;
Hartley, JC;
Chakraborty, A;
Thompson, DNP;
(2014)
Long subcutaneous tunnelling reduces infection rates in paediatric external ventricular drains.
Child's Nervous System
, 30
(10)
pp. 1671-1678.
10.1007/s00381-014-2523-3.
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Cox, SE;
Makani, J;
Soka, D;
L'Esperence, VS;
Kija, E;
Dominguez-Salas, P;
Newton, CRJ;
... Kirkham, FJ; + view all
(2014)
Haptoglobin, alpha-thalassaemia and glucose-6-phosphate dehydrogenase polymorphisms and risk of abnormal transcranial Doppler among patients with sickle cell anaemia in Tanzania.
British Journal of Haematology
, 165
(5)
pp. 699-706.
10.1111/bjh.12791.
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Croft, LJ;
Baldeweg, T;
Sepeta, L;
Zimmaro, L;
Berl, MM;
Gaillard, WD;
(2014)
Vulnerability of the ventral language network in children with focal epilepsy.
Brain
, 137
(8)
pp. 2245-2257.
10.1093/brain/awu154.
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DeBaun, MR;
Gordon, M;
McKinstry, RC;
Noetzel, MJ;
White, DA;
Sarnaik, SA;
Meier, ER;
... Casella, JF; + view all
(2014)
Controlled Trial of Transfusions for Silent Cerebral Infarcts in Sickle Cell Anemia.
New England Journal of Medicine
, 371
pp. 699-710.
10.1056/NEJMoa1401731.
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Deligianni, F;
Centeno, M;
Carmichael, DW;
Clayden, JD;
(2014)
Relating resting-state fMRI and EEG whole-brain connectomes across frequency bands.
Front Neurosci
, 8
, Article 258 . 10.3389/fnins.2014.00258.
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Duffy, BA;
Chun, KP;
Ma, D;
Lythgoe, MF;
Scott, RC;
(2014)
Dexamethasone exacerbates cerebral edema and brain injury following lithium-pilocarpine induced status epilepticus.
Neurobiol Dis
, 63
pp. 229-236.
10.1016/j.nbd.2013.12.001.
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Foley, AR;
Pitceathly, RD;
He, J;
Kim, J;
Pearson, NM;
Muntoni, F;
Hanna, MG;
(2014)
Whole-genome sequencing and the clinician: a tale of two cities.
J Neurol Neurosurg Psychiatry
10.1136/jnnp-2013-306264.
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Hales, PW;
Kawadler, JM;
Aylett, SE;
Kirkham, FJ;
Clark, CA;
(2014)
Arterial spin labeling characterization of cerebral perfusion during normal maturation from late childhood into adulthood: normal 'reference range' values and their use in clinical studies.
Journal of Cerebral Blood Flow and Metabolism
, 34
(5)
pp. 776-784.
10.1038/jcbfm.2014.17.
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Hartley, C;
Taylor, TJ;
Kiss, IZ;
Farmer, SF;
Berthouze, L;
(2014)
Identification of criticality in neuronal avalanches: II. A theoretical and empirical investigation of the driven case.
Journal of Mathematical Neuroscience
, 4
, Article 9. 10.1186/2190-8567-4-9.
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Hobson, RP;
(2014)
The coherence of autism.
Autism
, 18
(1)
6 - 16.
10.1177/1362361313497538.
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Hoskote, A;
Burch, M;
(2014)
Peri-operative kidney injury and long-term chronic kidney disease following orthotopic heart transplantation in children.
Pediatric Nephrology
, 30
(6)
pp. 905-918.
10.1007/s00467-014-2878-4.
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Illingworth, MA;
Carr, LJ;
Kurian, MA;
Meyer, E;
Chong, WK;
Manzur, AY;
Younis, R;
... Hayflick, SJ; + view all
(2014)
PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.
Molecular Genetics and Metabolism
, 112
(2)
183 - 189.
10.1016/j.ymgme.2014.03.008.
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Karda, R;
Buckley, SM;
Mattar, CN;
Ng, J;
Massaro, G;
Hughes, MP;
Kurian, MA;
... Rahim, AA; + view all
(2014)
Perinatal systemic gene delivery using adeno-associated viral vectors.
Front Mol Neurosci
, 7
, Article 89. 10.3389/fnmol.2014.00089.
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Kurian, MA;
Jungbluth, H;
(2014)
Genetic disorders of thyroid metabolism and brain development.
Dev Med Child Neurol
, 56
(7)
pp. 627-634.
10.1111/dmcn.12445.
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Liégeois, F;
Mayes, A;
Morgan, A;
(2014)
Neural Correlates of Developmental Speech and Language Disorders: Evidence from Neuroimaging.
Curr Dev Disord Rep
, 1
(3)
215 - 227.
10.1007/s40474-014-0019-1.
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Logan, CV;
Szabadkai, G;
Sharpe, JA;
Parry, DA;
Torelli, S;
Childs, AM;
Kriek, M;
... Sheridan, E; + view all
(2014)
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Nature Genetics
, 46
(2)
pp. 188-193.
10.1038/ng.2851.
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Lohezic, M;
Teh, I;
Bollensdorff, C;
Peyronnet, Rémi ;
Hales, P;
Grau, V;
Kohl, P;
(2014)
Interrogation of living myocardium in multiple static deformation states with diffusion tensor and diffusion spectrum imaging.
Prog Biophys Mol Biol
, 115
(2-3)
pp. 213-225.
10.1016/j.pbiomolbio.2014.08.002.
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Lorio, S;
Lutti, A;
Kherif, F;
Ruef, A;
Dukart, J;
Chowdhury, R;
Frackowiak, RS;
... Draganski, B; + view all
(2014)
Disentangling in vivo the effects of iron content and atrophy on the ageing human brain.
Neuroimage
, 103C
280 - 289.
10.1016/j.neuroimage.2014.09.044.
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Mills, PB;
Camuzeaux, SS;
Footitt, EJ;
Mills, KA;
Gissen, P;
Fisher, L;
Das, KB;
... Clayton, PT; + view all
(2014)
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Brain
, 137
(5)
pp. 1350-1360.
10.1093/brain/awu051.
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Moraitis, E;
Ganesan, V;
(2014)
Childhood infections and trauma as risk factors for stroke.
Current Cardiology Reports
, 16
(9)
, Article 527. 10.1007/s11886-014-0527-y.
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Mullally, SL;
Vargha-Khadem, F;
Maguire, EA;
(2014)
Scene construction in developmental amnesia: An fMRI study.
Neuropsychologia
, 52
pp. 1-10.
10.1016/j.neuropsychologia.2013.11.001.
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Ng, J;
Heales, SJ;
Kurian, MA;
(2014)
Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders.
Pediatric Drugs
, 16
(4)
pp. 275-291.
10.1007/s40272-014-0079-z.
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Ng, J;
Zhen, J;
Meyer, E;
Erreger, K;
Li, Y;
Kakar, N;
Ahmad, J;
... Kurian, MA; + view all
(2014)
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
Brain
, 137
(4)
1107 - 1119.
10.1093/brain/awu022.
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Ngoh, A;
McTague, A;
Wentzensen, IM;
Meyer, E;
Applegate, C;
Kossoff, EH;
Batista, DA;
... Kurian, MA; + view all
(2014)
Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum.
Dev Med Child Neurol
, 56
(11)
1124 - 1128.
10.1111/dmcn.12450.
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Parker, CS;
Deligianni, F;
Cardoso, MJ;
Daga, P;
Modat, M;
Dayan, M;
Clark, CA;
... Clayden, JD; + view all
(2014)
Consensus between pipelines in structural brain networks.
PLoS One
, 9
(10)
, Article e111262. 10.1371/journal.pone.0111262.
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Rosen, CL;
Debaun, MR;
Strunk, RC;
Redline, S;
Seicean, S;
Craven, DI;
Gavlak, JCD;
... Kirkham, FJ; + view all
(2014)
Obstructive Sleep Apnea and Sickle Cell Anemia.
Pediatrics
, 134
(2)
pp. 273-281.
10.1542/peds.2013-4223.
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Rozkalne, A;
Adkin, C;
Meng, J;
Lapan, A;
Morgan, JE;
Gussoni, E;
(2014)
Mouse Regenerating Myofibers Detected as False-Positive Donor Myofibers with Anti-Human Spectrin.
Human Gene Therapy
, 25
(1)
73 - 81.
10.1089/hum.2013.126.
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Walker, SM;
(2014)
Neonatal pain.
Paediatric Anaesthesia
, 24
(1)
39 - 48.
10.1111/pan.12293.
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Walker, SM;
(2014)
Overview of neurodevelopment and pain research, possible treatment targets.
Best Practice and Research: Clinical Rheumatology
, 28
(2)
213 - 228.
10.1016/j.berh.2014.03.007.
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Thesis
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Croft, L;
(2014)
Neuroimaging investigations of language to aid paediatric neurosurgical decision making.
Doctoral thesis , UCL (University College London).
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Grech Sollars, M;
(2014)
Diffusion MRI for characterising childhood brain tumours.
Doctoral thesis , UCL (University College London).
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Nayyer, L;
(2014)
Design and Development of a Synthetic POSS-Nanocomposite Implant for Auricular Reconstruction.
Doctoral thesis , UCL (University College London).
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Sahni, H;
(2014)
The molecular regulation of T cell development and function (Sahni, , Trans.).
Doctoral thesis , UCL (University College London).
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Schoeler, NE;
(2014)
The genetic basis for response to the Ketogenic diet in drug-resistant epilepsy.
Doctoral thesis , UCL (University College London).
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Stevens, ESL;
(2014)
An Investigation of Alpha-Dystroglycan Glycosylation in the Dystroglycanopathies: Implications for Diagnosis, Therapy and the Study of Novel Causative Genes.
Doctoral thesis , UCL (University College London).
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Thornton, RC;
(2014)
Imaging brain networks in focal epilepsy: a prospective study of the clinical application of simultaneous EEG-fMRI in pre-surgical evaluation.
Doctoral thesis , UCL (University College London).
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