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Article

Aharoni, S; Barwick, KES; Straussberg, R; Harlalka, GV; Nevo, Y; Chioza, BA; McEntagart, MM; ... Crosby, AH; + view all (2016) Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. BMC Medical Genetics , 17 , Article 82. 10.1186/s12881-016-0343-x. Green open access
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Alameddine, HS; Morgan, JE; (2016) Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Inflammation and Fibrosis of Skeletal Muscles. Journal of Neuromuscular Diseases , 3 (4) pp. 455-473. 10.3233/JND-160183. Green open access
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Apps, JR; Hutchinson, JC; Arthurs, OJ; Virasami, A; Joshi, A; Zeller-Plumhoff, B; Moulding, D; ... Martinez-Barbera, JP; + view all (2016) Imaging Invasion: Micro-CT imaging of adamantinomatous craniopharyngioma highlights cell type specific spatial relationships of tissue invasion. Acta Neuropathol Commun , 4 (1) , Article 57. 10.1186/s40478-016-0321-8. Green open access
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Balestrini, S; Milh, M; Castiglioni, C; Lüthy, K; Finelli, MJ; Verstreken, P; Cardon, A; ... Sisodiya, SM; + view all (2016) TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology , 87 (1) pp. 77-85. 10.1212/WNL.0000000000002807. Green open access
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Bali, A; Cross, H; Lakhanpaul, M; Hargreaves, D; Cowman, J; Power, M; Dunkley, C; (2016) Integrated care for childhood epilepsy: ongoing challenges and lessons for other long-term conditions. Archives of Disease in Childhood , 101 pp. 1057-1062. 10.1136/archdischild-2015-309794. Green open access
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Barral, S; Kurian, MA; (2016) Utility of Induced Pluripotent Stem Cells for the Study and Treatment of Genetic Diseases: Focus on Childhood Neurological Disorders. Frontiers in Molecular Neuroscience , 9 (ARTN 78) 10.3389/fnmol.2016.00078. Green open access
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Barras, CD; Asadi, H; Baldeweg, T; Mancini, L; Yousry, TA; Bisdas, S; (2016) Functional magnetic resonance imaging in clinical practice: State of the art and science. Australian Family Physician , 45 (11) pp. 798-803.

Bathelt, J; De Haan, M; Salt, A; Dale, NJ; (2016) Executive abilities in children with congenital visual impairment in mid-childhood. Child Neuropsychology , 24 (2) pp. 184-202. 10.1080/09297049.2016.1240158. Green open access
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Beclin, C; Follert, P; Stappers, E; Barral, S; Nathalie, C; de Chevigny, A; Magnone, V; ... Cremer, H; + view all (2016) miR-200 family controls late steps of postnatal forebrain neurogenesis via Zeb2 inhibition. SCIENTIFIC REPORTS , 6 , Article 357. 10.1038/srep35729. Green open access
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Beniczky, S; Neufeld, M; Diehl, B; Dobesberger, J; Trinka, E; Mameniskiene, R; Rheims, S; ... Ryvlin, P; + view all (2016) Testing patients during seizures: A European consensus procedure developed by a joint taskforce of the ILAE - Commission on European Affairs and the European Epilepsy Monitoring Unit Association. Epilepsia , 57 (9) pp. 1363-1368. 10.1111/epi.13472. Green open access
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Blumberg, BJ; Flynn, SP; Barriere, SJ; Mouchati, PR; Scott, RC; Holmes, GL; Barry, JM; (2016) Efficacy of nonselective optogenetic control of the medial septum over hippocampal oscillations: the influence of speed and implications for cognitive enhancement. Physiological Reports , 4 (23) , Article e13048. 10.14814/phy2.13048. Green open access
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Boldt, K; Van Reeuwijk, J; Lu, Q; Koutroumpas, K; Nguyen, TM; Texier, Y; Van Beersum, SE; ... UK10K Rare Diseases Group, ; + view all (2016) An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nature Communications , 7 , Article 11491. 10.1038/ncomms11491. Green open access
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Booth, RDL; Happé, FGE; (2016) Evidence of Reduced Global Processing in Autism Spectrum Disorder. Journal of Autism and Developmental Disorders 10.1007/s10803-016-2724-6. (In press). Green open access
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Catapano, F; Zaharieva, I; Scoto, M; Marrosu, E; Morgan, J; Muntoni, F; Zhou, H; (2016) Altered Levels of MicroRNA-9,-206, and-132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy. Molecular Therapy-Nucleic Acids , 5 , Article e331. 10.1038/mtna.2016.47. Green open access
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Centeno, M; Tierney, TM; Perani, S; Shamshiri, EA; StPier, K; Wilkinson, C; Konn, D; ... Carmichael, D; + view all (2016) Optimising EEG-fMRI for Localisation of Focal Epilepsy in Children. PLoS One 10.1371/journal.pone.0149048. Green open access
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Chang, FC; Westenberger, A; Dale, RC; Smith, M; Pall, HS; Perez-Dueñas, B; Grattan-Smith, P; ... Fung, VS; + view all (2016) Phenotypic insights into ADCY5-associated disease. Movement Disorders , 31 (7) pp. 1033-1040. 10.1002/mds.26598. Green open access
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Chang, P-S; Walker, SM; Fitzgerald, M; (2016) Differential Suppression of Spontaneous and Noxious-evoked Somatosensory Cortical Activity by Isoflurane in the Neonatal Rat. Anesthesiology , 124 (4) pp. 885-898. 10.1097/ALN.0000000000001017. Green open access
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Chari, A; Hocking, KC; Edlmann, E; Turner, C; Santarius, T; Hutchinson, PJ; Kolias, AG; (2016) Core Outcomes and Common Data Elements in Chronic Subdural Hematoma: A Systematic Review of the Literature Focusing on Baseline and Peri-Operative Care Data Elements. Journal of Neurotrauma , 33 (17) pp. 1569-1575. 10.1089/neu.2015.4248. Green open access
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Clark, DJ; Chakraborty, A; Roebuck, DJ; Thompson, DNP; (2016) Ultrasound guided placement of the distal catheter in paediatric ventriculoatrial shunts—an appraisal of efficacy and complications. Child's Nervous System , 32 (7) pp. 1219-1225. 10.1007/s00381-016-3120-4. Green open access
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Clayden, JD; Nagy, Z; Weiskopf, N; Alexander, DC; Clark, CA; (2016) Microstructural parameter estimation in vivo using diffusion MRI and structured prior information. Magnetic Resonance in Medicine , 75 (4) pp. 1787-1796. 10.1002/mrm.25723. Green open access
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Coenen-Stass, AM; Betts, CA; Lee, YF; Mäger, I; Turunen, MP; El Andaloussi, S; Morgan, JE; ... Roberts, TC; + view all (2016) Selective release of muscle-specific, extracellular microRNAs during myogenic differentiation. Human Molecular Genetics , 25 (18) pp. 3960-3974. 10.1093/hmg/ddw237. Green open access
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Cohen, RT; Rodeghier, M; Kirkham, FJ; Rosen, CL; Kirkby, J; DeBaun, MR; Strunk, RC; (2016) Exhaled nitric oxide: Not associated with asthma, symptoms, or spirometry in children with sickle cell anemia. Journal of Allergy and Clinical Immunology , 138 (5) 1338-1343.e4. 10.1016/j.jaci.2016.06.043. Green open access
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Cohen, RT; Strunk, RC; Rodeghier, M; Rosen, CL; Kirkham, FJ; Kirkby, J; DeBaun, MR; (2016) Pattern of Lung Function Is Not Associated with Prior or Future Morbidity in Children with Sickle Cell Anemia. Annals of the American Thoracic Society , 13 (8) pp. 1314-1323. 10.1513/AnnalsATS.201510-706OC. Green open access
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Cornett, KM; Menezes, MP; Bray, P; Halaki, M; Shy, RR; Yum, SW; Estilow, T; ... Inherited Neuropathies Consortium, ; + view all (2016) Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease. JAMA Neurology , 73 (6) pp. 645-651. 10.1001/jamaneurol.2016.0171. Green open access
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De Sanctis, R; Coratti, G; Pasternak, A; Montes, J; Pane, M; Mazzone, ES; Young, SD; ... Mercuri, E; + view all (2016) Developmental milestones in type I spinal muscular atrophy. Neuromuscular Disorders , 26 (11) pp. 754-759. 10.1016/j.nmd.2016.10.002. Green open access
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DeBaun, MR; Kirkham, FJ; (2016) Central nervous system complications and management in sickle cell disease. Blood , 127 (7) pp. 829-838. 10.1182/blood-2015-09-618579. Green open access
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DeBaun, MR; Kirkham, FJ; (2016) New option for primary stroke prevention in sickle cell anaemia. The Lancet , 387 (10019) pp. 626-627. 10.1016/S0140-6736(15)01130-7. Green open access
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Deligianni, F; Carmichael, DW; Zhang, GH; Clark, CA; Clayden, JD; (2016) NODDI and Tensor-Based Microstructural Indices as Predictors of Functional Connectivity. PLOS One , 11 (4) , Article e0153404. 10.1371/journal.pone.0153404. Green open access
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Dowling, MM; Kirkham, FJ; (2016) Stroke in sickle cell anaemia is more than stenosis and thrombosis: the role of anaemia and hyperemia in ischaemia. [Editorial comment]. British Journal of Haematology 10.1111/bjh.14422. Green open access
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Eve, M; O'Keeffe, F; Jhuty, S; Ganesan, V; Brown, G; Murphy, T; (2016) Computerized Working-Memory Training for Children Following Arterial Ischemic Stroke: A Pilot Study With Long-Term Follow-Up. Applied Neuropsychology: Child , 5 (4) pp. 273-282. 10.1080/21622965.2015.1055563. Green open access
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Fabrizi, L; Verriotis, M; Williams, G; Lee, A; Meek, J; Olhede, S; Fitzgerald, M; (2016) Encoding of mechanical nociception differs in the adult and infant brain. Scientific Reports , 6 , Article 28642. 10.1038/srep28642. Green open access
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Gaillard, M-C; Puppo, F; Roche, S; Dion, C; Campana, ES; Mariot, V; Chaix, C; ... Bartoli, M; + view all (2016) Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report. BMC Medical Genetics , 17 (1) , Article 66. 10.1186/s12881-016-0328-9. Green open access
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Geva, S; Cooper, JM; Gadian, DG; Mishkin, M; Vargha-Khadem, F; (2016) Impairment on a self-ordered working memory task in patients with early-acquired hippocampal atrophy. Developmental Cognitive Neuroscience , 20 pp. 12-22. 10.1016/j.dcn.2016.06.001. Green open access
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Glennon, JM; Weiss-Croft, L; Harrison, S; Cross, JH; Boyd, SG; Baldeweg, T; (2016) Interictal epileptiform discharges have an independent association with cognitive impairment in children with lesional epilepsy. Epilepsia , 57 (9) pp. 1436-1442. 10.1111/epi.13479. Green open access
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Haack, TB; Ignatius, E; Calvo-Garrido, J; Iuso, A; Isohanni, P; Maffezzini, C; Lönnqvist, T; ... Klopstock, T; + view all (2016) Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia and Gaze Palsy. American Journal of Human Genetics , 99 (3) pp. 735-743. 10.1016/j.ajhg.2016.06.026. Green open access
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Hales, PW; Kirkham, FJ; Clark, CA; (2016) A general model to calculate the spin-lattice (T1) relaxation time of blood, accounting for haematocrit, oxygen saturation and magnetic field strength. Journal of Cerebral Blood Flow & Metabolism , 36 (2) pp. 370-374. 10.1177/0271678X15605856. Green open access
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Hall, MG; Clark, CA; (2016) Diffusion in hierarchical systems: A simulation study in models of healthy and diseased muscle tissue. Magnetic Resonance in Medicine , 78 (3) pp. 1187-1198. 10.1002/mrm.26469. Green open access
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Hammond, SM; Hazell, G; Shabanpoor, F; Saleh, AF; Bowerman, M; Sleigh, JN; Meijboom, KE; ... Wood, MJ; + view all (2016) Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy. Proceedings of the National Academy of Sciences of the United States of America , 113 (39) pp. 10962-10967. 10.1073/pnas.1605731113. Green open access
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Heywood, WE; Bliss, E; Mills, P; Yuzugulen, J; Carreno, G; Clayton, PT; Muntoni, F; ... Grunewald, S; + view all (2016) Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation. Molecular Genetics and Metabolism Reports , 7 pp. 55-62. 10.1016/j.ymgmr.2016.03.002. Green open access
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Hildebrand, ME; Xu, J; Dedek, A; Li, Y; Sengar, AS; Beggs, S; Lombroso, PJ; (2016) Potentiation of Synaptic GluN2B NMDAR Currents by Fyn Kinase Is Gated through BDNF-Mediated Disinhibition in Spinal Pain Processing. Cell Reports , 17 (10) pp. 2753-2765. 10.1016/j.celrep.2016.11.024. Green open access
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Hill, CM; Baya, A; Gavlak, J; Carroll, A; Heathcote, K; Dimitriou, D; L'Esperance, V; ... Hogan, AM; + view all (2016) Adaptation to Life in the High Andes: Nocturnal Oxyhemoglobin Saturation in Early Development. Sleep , 39 (5) pp. 1001-1008. 10.5665/sleep.5740. Green open access
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Hood, A; Rutlin, J; Shimony, JS; Grange, DK; White, DA; (2016) Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria. JIMD Reports , 33 pp. 41-47. 10.1007/8904_2016_579. Green open access
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Horga, A; Tomaselli, PJ; Gonzalez, MA; Laurà, M; Muntoni, F; Manzur, AY; Hanna, MG; ... Reilly, MM; + view all (2016) SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. Neurology , 87 (15) pp. 1607-1612. 10.1212/WNL.0000000000003212. Green open access
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Ingram, G; Barwick, KE; Hartley, L; McEntagart, M; Crosby, AH; Llewelyn, G; Morris, HR; (2016) Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. Practical Neurology , 16 (3) pp. 247-251. 10.1136/practneurol-2015-001307. Green open access
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Janackova, S; Boyd, S; Yozawitz, E; Tsuchida, T; Lamblin, M-D; Gueden, S; Pressler, R; (2016) Electroencephalographic characteristics of epileptic seizures in preterm neonates. Clinical Neurophysiology , 127 (8) pp. 2721-2727. 10.1016/j.clinph.2016.05.006. Green open access
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Janghra, N; Morgan, JE; Sewry, CA; Wilson, FX; Davies, KE; Muntoni, F; Tinsley, J; (2016) Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies. PLoS One , 11 (3) , Article e0150818. 10.1371/journal.pone.0150818. Green open access
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Jungbluth, H; Dowling, JJ; Ferreiro, A; Muntoni, F; (2016) 217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016. Neuromuscular Disorders , 26 (9) pp. 624-633. 10.1016/j.nmd.2016.06.001. Green open access
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Kalra, S; Montanaro, F; Denning, C; (2016) Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies? Journal of Neuromuscular Diseases , 3 (3) pp. 309-332. 10.3233/JND-150133. Green open access
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Kawadler, JM; Clayden, JD; Clark, CA; Kirkham, FJ; (2016) Intelligence quotient in paediatric sickle cell disease: a systematic review and meta-analysis. Developmental Medicine & Child Neurology , 58 (7) pp. 672-679. 10.1111/dmcn.13113. Green open access
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Kinsler, VA; Polubothu, S; Calonje, JE; Chong, WK; Thompson, D; Jacques, TS; Morrogh, D; (2016) Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanoma. Acta Neuropathologica , 133 (2) pp. 329-331. 10.1007/s00401-016-1651-0. Green open access
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Koffarnus, MN; Johnson, MW; Thompson-Lake, DGY; Wesley, MJ; Lohrenz, T; Montague, PR; Bickel, WK; (2016) Cocaine-Dependent Adults and Recreational Cocaine Users Are More Likely Than Controls to Choose Immediate Unsafe Sex Over Delayed Safer Sex. Experimental And Clinical Psychopharmacology , 24 (4) pp. 297-304. 10.1037/pha0000080. Green open access
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Kurian, MA; Dale, RC; (2016) Movement Disorders Presenting in Childhood. CONTINUUM: Lifelong Learning in Neurology , 22 (4) pp. 1159-1185. 10.1212/CON.0000000000000367. Green open access
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L'Esperance, VS; Ekong, T; Cox, SE; Makani, J; Newton, CR; Soka, D; Komba, A; ... Hill, CM; + view all (2016) Nocturnal haemoglobin oxygen desaturation in urban and rural East African paediatric cohorts with and without sickle cell anaemia: a cross-sectional study. Archives of Disease in Childhood , 101 (4) pp. 352-355. 10.1136/archdischild-2014-306468. Green open access
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Le Moing, A-G; Seferian, AM; Moraux, A; Annoussamy, M; Dorveaux, E; Gasnier, E; Hogrel, J-Y; ... Servais, L; + view all (2016) A Movement Monitor Based on MagnetoInertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment. PLoS One , 11 (6) , Article e0156696. 10.1371/journal.pone.0156696. Green open access
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Lee, YN; Frugoni, F; Dobbs, K; Tirosh, I; Du, L; Ververs, FA; Ru, H; ... Notarangelo, LD; + view all (2016) Characterization of T and B cell repertoire diversity in patients with RAG deficiency. Sci Immunol , 1 (6) 10.1126/sciimmunol.aah6109. Green open access
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Liegeois, FJ; Butler, J; Morgan, AT; Clayden, JD; Clark, CA; (2016) Anatomy and lateralization of the human corticobulbar tracts: an fMRI-guided tractography study. Brain Structure and Function , 221 (6) pp. 3337-3345. 10.1007/s00429-015-1104-x. Green open access
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Liegeois, FJ; Hildebrand, MS; Bonthrone, A; Turner, SJ; Scheffer, IE; Bahlo, M; Connelly, A; (2016) Early neuroimaging markers of FOXP2 intragenic deletion. Scientific Reports , 6 , Article ARTN 351. 10.1038/srep35192. Green open access
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LoMauro, A; Aliverti, A; Mastella, C; Arnoldi, MT; Banfi, P; Baranello, G; (2016) Spontaneous Breathing Pattern as Respiratory Functional Outcome in Children with Spinal Muscular Atrophy (SMA). PLoS One , 11 (11) , Article e0165818. 10.1371/journal.pone.0165818. Green open access
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Lopez, RJ; Byrne, S; Vukcevic, M; Sekulic-Jablanovic, M; Xu, L; Brink, M; Alamelu, J; ... Jungbluth, H; + view all (2016) An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities. Science Signaling , 9 (435) , Article ra68. 10.1126/scisignal.aad9813. Green open access
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Lorio, S; Fresard, S; Adaszewski, S; Kherif, F; Chowdhury, R; Frackowiak, RS; Ashburner, J; ... Draganski, B; + view all (2016) New tissue priors for improved automated classification of subcortical brain structures on MRI. Neuroimage , 130 pp. 157-166. 10.1016/j.neuroimage.2016.01.062. Green open access
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Lorio, S; Kherif, F; Ruef, A; Melie-Garcia, L; Frackowiak, R; Ashburner, J; Helms, G; ... Draganski, B; + view all (2016) Neurobiological origin of spurious brain morphological changes: A quantitative MRI study. Human Brain Mapping , 37 (5) pp. 1801-1815. 10.1002/hbm.23137. Green open access
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Mallick, AA; Ganesan, V; Kirkham, FJ; Fallon, P; Hedderly, T; McShane, T; Parker, AP; ... O'Callaghan, FJ; + view all (2016) Outcome and recurrence one year after paediatric arterial ischaemic stroke in a population-based cohort. Annals of Neurology , 79 (5) pp. 784-793. 10.1002/ana.24626.

Massey, AT; Lerner, DK; Holmes, GL; Scott, RC; Hernan, AE; (2016) ACTH Prevents Deficits in Fear Extinction Associated with Early Life Seizures. Frontiers in Neurology , 7 , Article 65. 10.3389/fneur.2016.00065. Green open access
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Mathieson, S; Rennie, J; Livingstone, V; Temko, A; Low, E; Pressler, RM; Boylan, GB; (2016) In-depth performance analysis of an EEG based neonatal seizure detection algorithm. Clinical Neurophysiology , 127 (5) pp. 2246-2256. 10.1016/j.clinph.2016.01.026. Green open access
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Mathieson, SR; Livingstone, V; Low, E; Pressler, R; Rennie, JM; Boylan, GB; (2016) Phenobarbital reduces EEG amplitude and propagation of neonatal seizures but does not alter performance of automated seizure detection. Clinical Neurophysiology , 127 (10) pp. 3343-3350. 10.1016/j.clinph.2016.07.007. Green open access
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McCrea, N; Saunders, D; Bagkeris, E; Chitre, M; Ganesan, V; (2016) Diagnosis of vertebral artery dissection in childhood posterior circulation arterial ischaemic stroke. Developmental Medicine and Child Neurology , 58 (1) pp. 63-69. 10.1111/dmcn.12945. Green open access
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McDonald, CM; Meier, T; Voit, T; Schara, U; Straathof, CSM; D'Angelo, MG; Bernert, G; ... DELOS Study Group, ; + view all (2016) Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy. Neuromuscular Disorders , 26 (8) pp. 473-480. 10.1016/j.nmd.2016.05.008. Green open access
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Mencacci, NE; Kamsteeg, EJ; Nakashima, K; R'Bibo, L; Lynch, DS; Balint, B; Willemsen, MA; ... Bhatia, KP; + view all (2016) De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. The American Journal of Human Genetics , 98 (4) pp. 763-771. 10.1016/j.ajhg.2016.02.015. Green open access
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Menezes, MP; Rahman, S; Bhattacharya, K; Clark, D; Christodoulou, J; Ellaway, C; Farrar, M; ... Ouvrier, R; + view all (2016) Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease. Mitochondrion , 30 pp. 162-167. 10.1016/j.mito.2016.07.014. Green open access
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Meng, J; Counsell, JR; Reza, M; Laval, SH; Danos, O; Thrasher, A; Lochmüller, H; ... Morgan, JE; + view all (2016) Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy. Scientific Reports , 6 , Article 19750. 10.1038/srep19750. Green open access
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Mercuri, E; Coratti, G; Messina, S; Ricotti, V; Baranello, G; D'Amico, A; Pera, MC; ... Pane, M; + view all (2016) Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy. PLoS ONE , 11 (8) , Article e0160195. 10.1371/journal.pone.0160195. Green open access
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Mercuri, E; Signorovitch, JE; Swallow, E; Song, J; Ward, SJ; Pane, M; Mazzone, E; ... Reha, A; + view all (2016) Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy. Neuromuscular Disorders , 26 (9) pp. 576-583. 10.1016/j.nmd.2016.05.016. Green open access
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Montaldo, P; Addison, S; Oliveira, V; Lally, PJ; Taylor, AM; Sebire, NJ; Thayyil, S; (2016) Quantification of maceration changes using post mortem MRI in fetuses. BMC Medical Imaging , 16 , Article 34. 10.1186/s12880-016-0137-9. Green open access
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Morgan, A; Bonthrone, A; Liégeois, FJ; (2016) Brain basis of childhood speech and language disorders: are we closer to clinically meaningful MRI markers? Current Opinion in Pediatrics , 28 (6) pp. 725-730. 10.1097/MOP.0000000000000420. Green open access
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Mouthaan, BE; Rados, M; Barsi, P; Boon, P; Carmichael, DW; Carrette, E; Craiu, D; ... E-PILEPSY consortium, .; + view all (2016) Current use of imaging and electromagnetic source localization procedures in epilepsy surgery centers across Europe. Epilepsia , 57 (5) pp. 770-776. 10.1111/epi.13347. Green open access
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Moutsiana, C; de Haas, B; Papageorgiou, A; van Dijk, JA; Balraj, A; Greenwood, JA; Schwarzkopf, DS; (2016) Cortical idiosyncrasies predict the perception of object size. Nature Communications , 7 , Article 12110. 10.1038/ncomms12110. Green open access
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Ngoh, A; Bras, J; Guerreiro, R; Meyer, E; McTague, A; Dawson, E; Mankad, K; ... Kurian, MA; + view all (2016) RARS2 mutations in a sibship with infantile spasms. Epilepsia , 57 (5) e97-e102. 10.1111/epi.13358. Green open access
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Norman, W; Jawad, N; Jones, R; Taylor, AM; Arthurs, OJ; (2016) Perinatal and paediatric post-mortem magnetic resonance imaging (PMMR): sequences and technique. British Journal of Radiology , 89 (1062) , Article 20151028. 10.1259/bjr.20151028. Green open access
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O'Callaghan, FJ; Edwards, SW; Alber, FD; Hancock, E; Johnson, AL; Kennedy, CR; Likeman, M; ... Osborne, JP; + view all (2016) Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial. Lancet Neurology , 16 (1) pp. 33-42. 10.1016/S1474-4422(16)30294-0. Green open access
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O'Grady, GL; Lek, M; Lamande, SR; Waddell, L; Oates, EC; Punetha, J; Ghaoui, R; ... North, K; + view all (2016) Diagnosis and aetiology of congenital muscular dystrophy: we are halfway there. Annals of Neurology , 80 (1) pp. 101-111. 10.1002/ana.24687. Green open access
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Opladen, T; Cortès-Saladelafont, E; Mastrangelo, M; Horvath, G; Pons, R; Lopez-Laso, E; Fernández-Ramos, JA; ... Garcia-Cazorla, À; + view all (2016) The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders. Molecular Genetics and Metabolism Reports , 9 pp. 61-66. 10.1016/j.ymgmr.2016.09.006. Green open access
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Orth, M; Gregory, S; Scahill, RI; Mayer, ISM; Minkova, L; Kloeppel, S; Seunarine, KK; ... Tabrizi, SJ; + view all (2016) Natural variation in sensory-motor white matter organization influences manifestations of Huntington's disease. Human Brain Mapping , 37 (12) pp. 4615-4628. 10.1002/hbm.23332. Green open access
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Papandreou, A; McTague, A; Trump, N; Ambegaonkar, G; Ngoh, A; Meyer, E; Scott, RH; (2016) GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. Developmental Medicine and Child Neurology , 58 (4) pp. 416-420. 10.1111/dmcn.12976. Green open access
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Papandreou, A; Schneider, RB; Augustine, EF; Ng, J; Mankad, K; Meyer, E; McTague, A; ... Kurian, MA; + view all (2016) Delineation of the movement disorders associated with FOXG1 mutations. Neurology , 86 (19) pp. 1794-1800. 10.1212/WNL.0000000000002585. Green open access
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Peccate, C; Mollard, A; Le Hir, M; Julien, L; McClorey, G; Jarmin, S; Le Heron, A; ... Lorain, S; + view all (2016) Antisense pre-treatment increases gene therapy efficacy in dystrophic muscles. Human Molecular Genetics , 25 (16) pp. 3555-3563. 10.1093/hmg/ddw201. Green open access
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Perry, MM; Muntoni, F; (2016) Noncoding RNAs and Duchenne muscular dystrophy. Epigenomics , 8 (11) pp. 1527-1537. 10.2217/epi-2016-0088. Green open access
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Prins, BP; Abbasi, A; Wong, A; Vaez, A; Nolte, I; Franceschini, N; Stuart, PE; ... Alizadeh, BZ; + view all (2016) Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study. PLoS Medicine , 13 (6) , Article e1001976. 10.1371/journal.pmed.1001976. Green open access
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Redelsperger, F; Raddi, N; Bacquin, A; Vernochet, C; Mariot, V; Gache, V; Blanchard-Gutton, N; ... Heidmann, T; + view all (2016) Genetic Evidence That Captured Retroviral Envelope syncytins Contribute to Myoblast Fusion and Muscle Sexual Dimorphism in Mice. PLoS Genetics , 12 (9) , Article e1006289. 10.1371/journal.pgen.1006289. Green open access
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Ricotti, V; Evans, MRB; Sinclair, CDJ; Butler, JW; Ridout, DA; Hogrel, J-Y; Emira, A; ... Thornton, JS; + view all (2016) Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials. PLOS ONE , 11 (9) 10.1371/journal.pone.0162542. Green open access
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Ricotti, V; Spinty, S; Roper, H; Hughes, I; Tejura, B; Robinson, N; Layton, G; ... Tinsley, J; + view all (2016) Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy. PLoS One , 11 (4) , Article e0152840. 10.1371/journal.pone.0152840. Green open access
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Rodríguez Cruz, PM; Belaya, K; Basiri, K; Sedghi, M; Farrugia, ME; Holton, JL; Liu, WW; ... Beeson, D; + view all (2016) Clinical features of the myasthenic syndrome arising from mutations in GMPPB. Journal of Neurology, Neurosurgery & Psychiatry , 87 (8) pp. 802-809. 10.1136/jnnp-2016-313163. Green open access
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Salman, RA-S; Kitchen, N; Thomson, J; Ganesan, V; Mallucci, C; Radatz, M; (2016) Top ten research priorities for brain and spine cavernous malformations. [Letter]. The Lancet Neurology , 15 (4) pp. 354-355. 10.1016/S1474-4422(16)00039-9. Green open access
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Schartner, V; Romero, NB; Donkervoort, S; Treves, S; Munot, P; Pierson, TM; Dabaj, I; ... Laporte, J; + view all (2016) Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta Neuropathologica , 133 (4) pp. 517-533. 10.1007/s00401-016-1656-8. Green open access
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Scott, RC; (2016) Network science for the identification of novel therapeutic targets in epilepsy. F1000Res , 5 , Article 893. 10.12688/f1000research.8214.1. Green open access
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Scott, RC; Tuchman, R; (2016) Epilepsy and autism spectrum disorders Relatively related. Neurology , 87 (2) pp. 130-131. 10.1212/WNL.0000000000002852. Green open access
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Scotton, C; Bovolenta, M; Schwartz, E; Falzarano, MS; Martoni, E; Passarelli, C; Armaroli, A; ... Ferlini, A; + view all (2016) Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy. Journal of Cell Science , 129 (8) pp. 1671-1684. 10.1242/jcs.175927. Green open access
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Seunarine, KK; Clayden, JD; Jentschke, S; Muñoz, M; Cooper, JM; Chadwick, MJ; Banks, T; ... Clark, CA; + view all (2016) Sexual Dimorphism in White Matter Developmental Trajectories Using Tract-Based Spatial Statistics. Brain Connectivity , 6 (1) pp. 37-47. 10.1089/brain.2015.0340. Green open access
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Shelmerdine, SC; Lynch, JO; Langan, D; Arthurs, OJ; (2016) Presentation to publication: proportion of abstracts published for ESPR, SPR and IPR. Pediatric Radiology , 46 (10) pp. 1371-1377. 10.1007/s00247-016-3653-4. Green open access
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Sintusek, P; Catapano, F; Angkathunkayul, N; Marrosu, E; Parson, SH; Morgan, JE; Muntoni, F; (2016) Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment. PLOS One , 11 (5) , Article e0155032. 10.1371/journal.pone.0155032. Green open access
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Smith, M; Kurian, MA; (2016) The medical management of cerebral palsy. Paediatrics and Child Health , 26 (9) pp. 378-382. 10.1016/j.paed.2016.04.013. Green open access
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Szunyogova, E; Zhou, H; Maxwell, GK; Powis, RA; Francesco, M; Gillingwater, TH; Parson, SH; (2016) Survival Motor Neuron (SMN) protein is required for normal mouse liver development. SCIENTIFIC REPORTS , 6 (ARTN 346) 10.1038/srep34635. Green open access
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Thorley, M; Duguez, S; Mazza, EMC; Valsoni, S; Bigot, A; Mamchaoui, K; Harmon, B; ... Duddy, W; + view all (2016) Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines. Skeletal Muscle , 6 (1) , Article 43. 10.1186/s13395-016-0115-5. Green open access
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Tierney, TM; Weiss-Croft, LJ; Centeno, M; Shamshiri, EA; Perani, S; Baldeweg, T; Clark, CA; (2016) FIACH: A biophysical model for automatic retrospective noise control in fMRI. Neuroimage , 124 (Pt A) pp. 1009-1020. 10.1016/j.neuroimage.2015.09.034. Green open access
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Tinuper, P; Bisulli, F; Cross, JH; Hesdorffer, D; Kahane, P; Nobili, L; Provini, F; ... Ottman, R; + view all (2016) Definition and diagnostic criteria of sleep-related hypermotor epilepsy. Neurology , 86 (19) pp. 1834-1842. 10.1212/WNL.0000000000002666. Green open access
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Trump, N; McTague, A; Brittain, H; Papandreou, A; Meyer, E; Ngoh, A; Palmer, R; ... Scott, RH; + view all (2016) Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. Journal of Medical Genetics , 53 (5) pp. 310-317. 10.1136/jmedgenet-2015-103263. Green open access
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Tur, C; Eshaghi, A; Jenkins, TM; Prados, F; Clayden, JD; Ourselin, S; Altmann, DR; ... Toosy, AT; + view all (2016) Longitudinal changes in structural cortical networks after clinically isolated syndrome. European Journal of Neurology , 23 (S2) , Article O1122. 10.1111/ene.13091. Green open access
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Tuschl, K; Meyer, E; Valdivia, LE; Zhao, N; Dadswell, C; Abdul-Sada, A; Hung, CY; ... Wilson, SW; + view all (2016) Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nature Communications , 7 , Article 11601. 10.1038/ncomms11601. Green open access
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Verriotis, M; Chang, P; Fitzgerald, M; Fabrizi, L; (2016) The development of the nociceptive brain. Neuroscience , 338 pp. 207-219. 10.1016/j.neuroscience.2016.07.026. Green open access
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Verriotis, M; Fabrizi, L; Lee, A; Cooper, RJ; Fitzgerald, M; Meek, J; (2016) Mapping cortical responses to somatosensory stimuli in human infants with simultaneous near-infrared spectroscopy and event-related potential recording. eNeuro 10.1523/ENEURO.0026-16.2016. Green open access
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Vezyroglou, K; Cross, JH; (2016) Targeted Treatment in Childhood Epilepsy Syndromes. Current Treatment Options in Neurology , 18 (6) , Article 29. 10.1007/s11940-016-0407-4. Green open access
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Wadsworth, I; Jaki, T; Sills, GJ; Appleton, R; Cross, JH; Marson, AG; Martland, T; ... Hampson, LV; + view all (2016) Clinical Drug Development in Epilepsy Revisited: A Proposal for a New Paradigm Streamlined Using Extrapolation. CNS DRUGS , 30 (11) pp. 1011-1017. 10.1007/s40263-016-0383-y. Green open access
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Walker, SM; Beggs, S; Baccei, ML; (2016) Persistent changes in peripheral and spinal nociceptive processing after early tissue injury. Experimental Neurology , 275 (Part 2) pp. 253-260. 10.1016/j.expneurol.2015.06.020. Green open access
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Walker, SM; Davidson, A; (2016) The big research question: who decides? Pediatric Anesthesia , 26 (9) pp. 862-863. 10.1111/pan.12963. Green open access
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Wallace, S; Guo, D-C; Regalado, E; Mellor-Crummey, L; Bamshad, M; Nickerson, DA; Dauser, R; ... Milewicz, DM; + view all (2016) Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension. Clinical Genetics , 90 (4) pp. 351-360. 10.1111/cge.12739. Green open access
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Weeke, LC; Boylan, GB; Pressler, RM; Hallberg, B; Blennow, M; Toet, MC; Groenendaal, F; ... NEonatal seizure treatment with Medication Off-patent (NEMO), .; + view all (2016) Role of EEG background activity, seizure burden and MRI in predicting neurodevelopmental outcome in full-term infants with hypoxic-ischaemic encephalopathy in the era of therapeutic hypothermia. European Journal of Paediatric Neurology , 20 (6) pp. 855-864. 10.1016/j.ejpn.2016.06.003. Green open access
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West, T; Farmer, S; Berthouze, L; Jha, A; Beudel, M; Foltynie, T; Limousin, P; ... Litvak, V; + view all (2016) The Parkinsonian Subthalamic Network: Measures of Power, Linear, and Non-linear Synchronization and their Relationship to L-DOPA Treatment and OFF State Motor Severity. Frontiers in Human Neuroscience , 10 , Article 517. 10.3389/fnhum.2016.00517. Green open access
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Yates, R; Edwards, K; King, J; Luzon, O; Evangeli, M; Stark, D; McFarlane, F; ... Murphy, T; + view all (2016) Habit reversal training and educational group treatments for children with tourette syndrome: A preliminary randomised controlled trial. Behaviour Research and Therapy , 80 pp. 43-50. 10.1016/j.brat.2016.03.003. Green open access
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Zhang, WB; Ross, PJ; Tu, Y; Wang, Y; Beggs, S; Sengar, AS; Ellis, J; (2016) Fyn Kinase regulates GluN2B subunit-dominant NMDA receptors in human induced pluripotent stem cell-derived neurons. Scientific Reports , 6 , Article 23837. 10.1038/srep23837. Green open access
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van Capelle, CI; van der Meijden, JC; van den Hout, JMP; Jaeken, J; Baethmann, M; Voit, T; Kroos, MA; ... van der Ploeg, AT; + view all (2016) Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet Journal of Rare Diseases , 11 , Article 65. 10.1186/s13023-016-0442-y. Green open access
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van der Harst, P; van Setten, J; Verweij, N; Vogler, G; Franke, L; Maurano, MT; Wang, X; ... de Bakker, PIW; + view all (2016) 52 Genetic Loci Influencing Myocardial Mass. Journal of the American College of Cardiology , 68 (13) pp. 1435-1448. 10.1016/j.jacc.2016.07.729. Green open access
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van der Hoorn, A; Yan, J-L; Larkin, TJ; Boonzaier, NR; Matys, T; Price, SJ; (2016) Posttreatment Apparent Diffusion Coefficient Changes in the Periresectional Area in Patients with Glioblastoma. World Neurosurgery , 92 pp. 159-165. 10.1016/j.wneu.2016.04.129. Green open access
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van der Louw, E; van den Hurk, D; Neal, E; Leiendecker, B; Fitzsimmon, G; Dority, L; Thompson, L; ... Cross, JH; + view all (2016) Ketogenic diet guidelines for infants with refractory epilepsy. European Journal of Paediatric Neurology , 20 (6) pp. 798-809. 10.1016/j.ejpn.2016.07.009. Green open access
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Book chapter

Kawadler, JM; Kirkham, FJ; (2016) Neurological Complications and MRI. In: Inusa, BPD, (ed.) Sickle Cell Disease - Pain and Common Chronic Complications. InTech: Rijeka, Croatia. Gold open access
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Proceedings paper

Thomas, DL; Nery, F; Gordon, I; Clark, CA; Ourselin, S; Golay, X; Atkinson, D; (2016) Reduction of motion artefacts in multi-shot 3D GRASE Arterial Spin Labelling using autofocus. In: Proceedings of the ISMRM 24th Annual Meeting & Exhibition. (pp. p. 2874). International Society for Magnetic Resonance in Medicine (ISMRM): Singapore.

Poster

Tur, C; Eshaghi, A; Jenkins, TM; Prados, F; Clayden, JD; Ourselin, S; Altmann, DR; ... Toosy, AT; + view all (2016) Longitudinal changes in structural cortical networks after clinically isolated syndrome. Presented at: 22nd Annual Meeting of the Organization for Human Brain Mapping, Geneva, Switzerland. Gold open access
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Thesis

Ayala Soriano, S; (2016) Characterisation of the optic radiations in children in health and disease. Doctoral thesis , UCL (University College London). Green open access
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Bakalis, S; (2016) Prediction Of Small-For-Gestational-Age Neonates At 30-34 Weeks' Gestation. Doctoral thesis (PhD), UCL (University College London). Green open access
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Brown, APY; (2016) Intrinsic and Visually-Evoked Properties of Layer 2/3 Neurons in Mouse Primary Visual Cortex and Their Dependence on Sensory Experience. Doctoral thesis , UCL (University College London). Green open access
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Downes, M; (2016) The development and assessment of executive functioning in preschool children with and without sickle cell anaemia. Doctoral thesis , UCL (University College London). Green open access
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Gibbard, CR; (2016) Structural connectivity of the brain in autism spectrum disorder. Doctoral thesis , UCL (University College London). Green open access
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Mathieson, SR; (2016) Neurophysiology Based Performance Analysis of a Novel Automated Seizure Detection Algorithm for Neonatal EEG. Doctoral thesis , UCL (University College London). Green open access
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May, L; (2016) Towards developing an outpatient assessment tool of LSL that incorporates clinical evaluation and the impact on patient and family in terms of Health Related Quality of Life. Doctoral thesis , UCL (University College London). Green open access
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Pujar, S; (2016) The status epilepticus in childhood outcomes study (STEPSOUT): long-term mortality, neurological, cognitive and neuroimaging outcomes. Doctoral thesis , UCL (University College London). Green open access
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Ricotti, V; (2016) Evolving natural history in Duchenne muscular dystrophy: implications for standard of care and experimental therapies. Doctoral thesis , UCL (University College London). Green open access
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Scerif, F; (2016) Identification of gene networks in childhood epilepsy: evidence from focal cortical dysplasia. Doctoral thesis , UCL (University College London). Green open access
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Su, MT; (2016) Functional and structural connectivity of reading networks in the adult brain. Doctoral thesis , UCL (University College London). Green open access
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This list was generated on Wed Apr 14 11:50:14 2021 BST.