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Number of items: 330.

A

Aartsma-Rus, A; Muntoni, F; (2013) 194th ENMC international workshop. 3rd ENMC workshop on exon skipping: Towards clinical application of antisense-mediated exon skipping for Duchenne muscular dystrophy 8-10 December 2012, Naarden, The Netherlands. NEUROMUSCULAR DISORDERS , 23 (11) pp. 934-944. 10.1016/j.nmd.2013.06.369.

Adlam, A-LR; de Haan, M; Hodges, JR; Patterson, K; (2013) Memory for action sequences in semantic dementia. NEUROPSYCHOLOGIA , 51 (8) pp. 1481-1487. 10.1016/j.neuropsychologia.2013.02.019.

Albouy, P; Schulze, K; Caclin, A; Tillmann, B; (2013) Does tonality boost short-term memory in congenital amusia? BRAIN RESEARCH , 1537 pp. 224-232. 10.1016/j.brainres.2013.09.003.

Alfred, T; Ben-Shlomo, Y; Cooper, R; Hardy, R; Deary, IJ; Elliott, J; Harris, SE; ... HALCyon Study Team, ; + view all (2013) Genetic variants influencing biomarkers of nutrition are not associated with cognitive capability in middle-aged and older adults. The Journal of Nutrition , 143 (5) 606 -612. 10.3945/jn.112.171520. Green open access
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Amin, S; Carter, M; Edwards, RJ; Pople, I; Aquilina, K; Merrifield, J; Osborne, JP; (2013) The outcome of surgical management of subependymal giant cell astrocytoma in tuberous sclerosis complex. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , 17 (1) pp. 36-44. 10.1016/j.ejpn.2012.10.005.

Amin, S; O'Callaghan, FJK; (2013) Glossal hamartoma in tuberous sclerosis. ARCHIVES OF DISEASE IN CHILDHOOD , 98 (2) p. 161. 10.1136/archdischild-2012-303036.

Andoniadou, CL; Martinez-Barbera, JP; (2013) Developmental mechanisms directing early anterior forebrain specification in vertebrates. CELLULAR AND MOLECULAR LIFE SCIENCES , 70 (20) pp. 3739-3752. 10.1007/s00018-013-1269-5.

Andoniadou, CL; Matsushima, D; Gharavy, SNM; Signore, M; Mackintosh, AI; Schaeffer, M; Gaston-Massuet, C; ... Martinez-Barbera, JP; + view all (2013) Sox2(+) Stem/Progenitor Cells in the Adult Mouse Pituitary Support Organ Homeostasis and Have Tumor-Inducing Potential. CELL STEM CELL , 13 (4) pp. 433-445. 10.1016/j.stem.2013.07.004.

Anthony, K; Ricotti, V; Guglieri, M; Servais, L; Voit, T; Bushby, K; Straub, V; ... Muntoni, F; + view all (2013) Assessing T cell-mediated immune response to dystrophin in the natural history of Duchenne muscular dystrophy. In: (Proceedings) 18th International Congress of the World-Muscle-Society (WMS). (pp. p. 843). PERGAMON-ELSEVIER SCIENCE LTD

Argyropoulos, GP; Kouvatsou, ZK; Pita, R; Vlaikidis, ND; Kimiskidis, VK; (2013) Processing lexical semantics and phonology in epilepsy. JOURNAL OF NEUROLINGUISTICS , 26 (1) pp. 149-159. 10.1016/j.jneuroling.2012.07.002.

Argyropoulos, GP; Muggleton, NG; (2013) Effects of Cerebellar Stimulation on Processing Semantic Associations. CEREBELLUM , 12 (1) pp. 83-96. 10.1007/s12311-012-0398-y.

Argyropoulos, GP; Muggleton, NG; (2013) Effects of cerebellar stimulation on processing semantic associations. Cerebellum (London, England) , 12 (1) pp. 83-96. 10.1007/s12311-012-0398-y.

Argyropoulos, GP; Tremblay, P; Small, SL; (2013) The neostriatum and response selection in overt sentence production: An fMRI study. NEUROIMAGE , 82 pp. 53-60. 10.1016/j.neuroimage.2013.05.064.

Arthurs, OJ; Bjorkum, AA; (2013) Safety in pediatric imaging: an update. ACTA RADIOLOGICA , 54 (9) pp. 983-990. 10.1177/0284185113477399.

Arthurs, OJ; Edwards, AD; Joubert, I; Graves, MJ; Set, PAK; Lomas, DJ; (2013) Interactive magnetic resonance imaging for paediatric vesicoureteric reflux (VUR). EUROPEAN JOURNAL OF RADIOLOGY , 82 (3) E112-E119. 10.1016/j.ejrad.2012.10.024.

Arthurs, OJ; Set, PAK; (2013) Response to letter by Park & Shin-Re: Comment on: Nutcracker and SMA syndrome: What is the normal SMA angle in children? [Eur J Radiol 81 (2012) e854-e861]. EUROPEAN JOURNAL OF RADIOLOGY , 82 (6) p. 1035. 10.1016/j.ejrad.2013.02.025.

Arthurs, OJ; Sury, M; (2013) Anaesthesia or sedation for paediatric MRI: advantages and disadvantages. CURRENT OPINION IN ANESTHESIOLOGY , 26 (4) pp. 489-494. 10.1097/ACO.0b013e3283620121.

Arthurs, OJ; Taylor, AM; Sebire, NJ; (2013) The less-invasive perinatal autopsy: Current status and future directions. Fetal and Maternal Medicine Review , 24 (2) pp. 45-59. 10.1017/S0965539513000065.

Arthurs, OJ; Thayyil, S; Wade, A; Chong, WK; Sebire, NJ; Taylor, AM; (2013) Normal ascent of the conus medullaris: a post-mortem foetal MRI study. JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE , 26 (7) pp. 697-702. 10.3109/14767058.2012.746307.

Assaf, Y; Alexander, DC; Jones, DK; Bizzi, A; Behrens, TEJ; Clark, CA; Cohen, Y; ... Poupon, C; + view all (2013) The CONNECT project: Combining macro- and micro-structure. NEUROIMAGE , 80 pp. 273-282. 10.1016/j.neuroimage.2013.05.055. Green open access
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B

Bailie, HC; Arthurs, OJ; Murray, MJ; Kelsall, AW; (2013) Weight-based determination of spinal canal depth for paediatric lumbar punctures. ARCHIVES OF DISEASE IN CHILDHOOD , 98 (11) pp. 877-880. 10.1136/archdischild-2013-303793.

Barba, C; Jacques, T; Kahane, P; Polster, T; Isnard, J; Leijten, FSS; Ozkara, C; ... Guerrini, R; + view all (2013) Epilepsy surgery in Neurofibromatosis Type 1. EPILEPSY RESEARCH , 105 (3) pp. 384-395. 10.1016/j.eplepsyres.2013.02.021.

Barba, C; Jacques, T; Kahane, P; Polster, T; Isnard, J; Leijten, FSS; Ozkara, C; ... Guerrini, R; + view all (2013) Epilepsy surgery in Neurofibromatosis Type 1. Epilepsy Research , 105 (3) pp. 384-395. 10.1016/j.eplepsyres.2013.02.021.

Bathelt, J; O'Reilly, H; Clayden, JD; Cross, JH; de Haan, M; (2013) Functional brain network organisation of children between 2 and 5 years derived from reconstructed activity of cortical sources of high-density EEG recordings. NEUROIMAGE , 82 pp. 595-604. 10.1016/j.neuroimage.2013.06.003.

Beaton, AE; Durnford, A; Heffer-Rahn, PE; Kirkham, F; Griffin, A; Gray, WP; (2013) Corrigendum to "Transsylvian selective amygdalohippocampectomy in children with hippocampal sclerosis: Seizure, intellectual and memory outcome" [Seizure 21 (2012) 699-705] (DOI:10.1016/j.seizure.2012.07.012). Seizure

Beaton, AE; Durnford, A; Heffer-Rahn, PE; Kirkham, F; Griffin, A; Gray, WP; (2013) Transsylvian selective amygdalohippocampectomy in children with hippocampal sclerosis: Seizure, intellectual and memory outcome (vol 21, pg 699, 2012). SEIZURE-EUROPEAN JOURNAL OF EPILEPSY , 22 (5) p. 411. 10.1016/j.seizure.2013.02.004.

Beggs, S; Salter, MW; (2013) The known knowns of microglia-neuronal signalling in neuropathic pain. Neurosci Lett , 557 Pt pp. 37-42. 10.1016/j.neulet.2013.08.037.

Bender, AC; Natola, H; Ndong, C; Holmes, GL; Scott, RC; Lenck-Santini, P-P; (2013) Focal Scn1a knockdown induces cognitive impairment without seizures. NEUROBIOLOGY OF DISEASE , 54 pp. 297-307. 10.1016/j.nbd.2012.12.021.

Beniczky, S; Aurlien, H; Brogger, JC; Fuglsang-Frederiksen, A; Martins-da-Silva, A; Trinka, E; Visser, G; ... Wolf, P; + view all (2013) Standardized Computer-based Organized Reporting of EEG: SCORE. EPILEPSIA , 54 (6) pp. 1112-1124. 10.1111/epi.12135.

Beniczky, S; Hirsch, LJ; Kaplan, PW; Pressler, R; Bauer, G; Aurlien, H; Brogger, JC; (2013) Unified EEG terminology and criteria for nonconvulsive status epilepticus. EPILEPSIA , 54 pp. 28-29. 10.1111/epi.12270.

Beran, D; Higuchi, M; (2013) Delivering Diabetes Care in the Philippines and Vietnam: Policy and Practice Issues. Asia-Pacific Journal of Public Health , 25 (1) 92 - 101. 10.1177/1010539511412177. Green open access
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Berndt, SI; Gustafsson, S; Maegi, R; Ganna, A; Wheeler, E; Feitosa, MF; Justice, AE; ... Ingelsson, E; + view all (2013) Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. NATURE GENETICS , 45 (5) 501-U69. 10.1038/ng.2606.

Berry, DJ; Hyppoenen, E; Cortina-Borja, M; (2013) Investigating the association of vitamin D seasonality on inflammatory and hemostatic markers. CHRONOBIOLOGY INTERNATIONAL , 30 (6) pp. 786-795. 10.3109/07420528.2013.765888.

Betcheva, ET; Yosifova, AG; Mushiroda, T; Kubo, M; Takahashi, A; Karachanak, SK; Zaharieva, IT; ... Nakamura, Y; + view all (2013) Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene. PSYCHIATRIC GENETICS , 23 (1) pp. 11-19. 10.1097/YPG.0b013e3283586343.

Bluebond-Langner, M; Beecham, E; Candy, B; Langner, R; Jones, L; (2013) Preferred place of death for children and young people with life-limiting and life-threatening conditions: a systematic review of the literature and recommendations for future inquiry and policy. Palliative Medicine , 27 (8) 705 -713. 10.1177/0269216313483186. Green open access
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Bluemcke, I; Thom, M; Aronica, E; Armstrong, DD; Bartolomei, F; Bernasconi, A; Bernasconi, N; ... Spreafico, R; + view all (2013) International consensus classification of hippocampal sclerosis in temporal lobe epilepsy: A Task Force report from the ILAE Commission on Diagnostic Methods. EPILEPSIA , 54 (7) pp. 1315-1329. 10.1111/epi.12220.

Blumcke, I; Cross, JH; Spreafico, R; (2013) The international consensus classification for hippocampal sclerosis: an important step towards accurate prognosis. LANCET NEUROLOGY , 12 (9) pp. 844-846. 10.1016/S1474-4422(13)70175-3.

Blümcke, I; Thom, M; Aronica, E; Armstrong, DD; Bartolomei, F; Bernasconi, A; Bernasconi, N; ... Spreafico, R; + view all (2013) International consensus classification of hippocampal sclerosis in temporal lobe epilepsy: A Task Force report from the ILAE Commission on Diagnostic Methods. Epilepsia , 54 (7) pp. 1315-1329. 10.1111/epi.12220.

Boldrin, L; Morgan, JE; (2013) Grafting of a single donor myofibre promotes hypertrophy in dystrophic mouse muscle. PLoS One , 8 (1) , Article e54599. 10.1371/journal.pone.0054599. Green open access
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Boldrin, L; Morgan, JE; (2013) Modulation of the host skeletal muscle niche for donor satellite cell grafting. Methods Mol Biol , 1035 pp. 179-190. 10.1007/978-1-62703-508-8_15.

Borrego, LM; Stocks, J; Almeida, I; Stanojevic, S; Antunes, J; Leiria-Pinto, P; Rosado-Pinto, JE; (2013) Bronchodilator responsiveness using spirometry in healthy and asthmatic preschool children. ARCHIVES OF DISEASE IN CHILDHOOD , 98 (2) pp. 112-117. 10.1136/archdischild-2012-301819.

Boylan, GB; Pressler, RM; (2013) Neonatal seizures: The journey so far. SEMINARS IN FETAL & NEONATAL MEDICINE , 18 (4) pp. 173-174. 10.1016/j.siny.2013.05.011.

Boylan, GB; Pressler, RM; (2013) Neonatal seizures: The journey so far. Seminars in Fetal and Neonatal Medicine , 18 (4) pp. 173-174. 10.1016/j.siny.2013.05.011.

Brennan, LC; Thia, LP; Hoo, A; Nguyen, T; Chudleigh, J; Lum, S; Wade, A; ... Stocks, J; + view all (2013) EVOLUTION OF LUNG FUNCTION DURING THE FIRST TWO YEARS OF LIFE IN INFANTS WITH CYSTIC FIBROSIS DIAGNOSED BY NEWBORN SCREENING. In: (Proceedings) Winter Meeting of the British-Thoracic-Society. (pp. A6-A7). BMJ PUBLISHING GROUP

Briggs, D; (2013) An investigation into sub-populations of satellite cells and myoblasts. Doctoral thesis , UCL (University College London).

Briggs, D; Morgan, JE; (2013) Recent progress in satellite cell/myoblast engraftment – relevance for therapy. FEBS Journal , 280 (17) pp. 4281-4293. 10.1111/febs.12273. Green open access
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Broucqsault, N; Morere, J; Gaillard, M-C; Dumonceaux, J; Torrents, J; Salort-Campana, E; De Paula, AM; ... Roche, S; + view all (2013) Dysregulation of 4q35-and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy. HUMAN MOLECULAR GENETICS , 22 (20) pp. 4206-4214. 10.1093/hmg/ddt272.

Brouwer-Brolsma, EM; Bischoff-Ferrari, HA; Bouillon, R; Feskens, EJM; Gallagher, CJ; Hypponen, E; Llewellyn, DJ; ... de Groot, LCPGM; + view all (2013) Vitamin D: do we get enough? A discussion between vitamin D experts in order to make a step towards the harmonisation of dietary reference intakes for vitamin D across Europe. OSTEOPOROSIS INTERNATIONAL , 24 (5) pp. 1567-1577. 10.1007/s00198-012-2231-3.

Brunklaus, A; Dorris, L; Ellis, R; Reavey, E; Lee, E; Forbes, G; Appleton, R; ... Zuberi, SM; + view all (2013) The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , 55 (2) pp. 154-161. 10.1111/dmcn.12030.

Bujarski, KA; Hirashima, F; Roberts, DW; Jobst, BC; Gilbert, KL; Roth, RM; Flashman, LA; ... Thadani, VM; + view all (2013) Long-term seizure, cognitive, and psychiatric outcome following trans-middle temporal gyms amygdalohippocampectomy and standard temporal lobectomy Clinical article. JOURNAL OF NEUROSURGERY , 119 (1) pp. 16-23. 10.3171/2013.3.JNS12714.

Burke, G; Hiscock, A; Klein, A; Niks, EH; Main, M; Manzur, AY; Ng, J; ... Robb, S; + view all (2013) Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscular Disorders , 23 (2) 170 - 175. 10.1016/j.nmd.2012.11.004. Green open access
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Burns, J; Menezes, M; Finkel, RS; Estilow, T; Moroni, I; Pagliano, E; Laura, M; ... Shy, ME; + view all (2013) Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM , 18 (2) pp. 177-180. 10.1111/jns5.12024.

Burns, J; Menezes, MP; Shy, R; Sanmaneechai, O; Laura, M; Muntoni, F; Estilow, T; ... Shy, ME; + view all (2013) DETERMINANTS OF BALANCE DEFICIT IN CHILDREN WITH CHARCOT-MARIE-TOOTH DISEASE. In: (Proceedings) Meeting of the Peripheral-Nerve-Society. (pp. p. 15). WILEY-BLACKWELL

Burns, J; Menezes, MP; Shy, R; Sanmaneechai, O; Laura, M; Muntoni, F; Estilow, T; ... Shy, ME; + view all (2013) TWO YEAR NATURAL HISTORY OF DISEASE PROGRESSION IN CHILDHOOD CHARCOT-MARIE-TOOTH DISEASE. In: (Proceedings) Meeting of the Peripheral-Nerve-Society. (pp. pp. 15-16). WILEY-BLACKWELL

C

Calhabeu, F; Hayashi, S; Morgan, JE; Relaix, F; Zammit, PS; (2013) Alveolar rhabdomyosarcoma-associated proteins PAX3/FOXO1A and PAX7/FOXO1A suppress the transcriptional activity of MyoD-target genes in muscle stem cells. ONCOGENE , 32 (5) pp. 651-662. 10.1038/onc.2012.73.

Carss, KJ; Stevens, E; Foley, AR; Cirak, S; Riemersma, M; Torelli, S; Hoischen, A; ... Muntoni, F; + view all (2013) Mutations in GDP-mannose pyrophosphorylase b cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. American Journal of Human Genetics , 93 (1) pp. 29-41. 10.1016/j.ajhg.2013.05.009.

Carss, KJ; Stevens, E; Foley, AR; Cirak, S; Riemersma, M; Torelli, S; Hoischen, A; ... Muntoni, F; + view all (2013) Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan. AMERICAN JOURNAL OF HUMAN GENETICS , 93 (1) pp. 29-41. 10.1016/j.ajhg.2013.05.009.

Caruso, N; Herberth, B; Bartoli, M; Puppo, F; Dumonceaux, J; Zimmermann, A; Denadai, S; ... Helmbacher, F; + view all (2013) Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy. PLOS GENETICS , 9 (6) 10.1371/journal.pgen.1003550.

Chudleigh, J; Hoo, A-F; Ahmed, D; Prasad, A; Sheehan, D; Francis, J; Buckingham, S; ... Stocks, J; + view all (2013) Positive parental attitudes to participating in research involving newborn screened infants with CF. JOURNAL OF CYSTIC FIBROSIS , 12 (3) pp. 234-240. 10.1016/j.jcf.2012.09.001.

Chung, AW; Thomas, DL; Ordidge, RJ; Clark, CA; (2013) Diffusion tensor parameters and principal eigenvector coherence: Relation to b-value intervals and field strength. MAGNETIC RESONANCE IMAGING , 31 (5) pp. 742-747. 10.1016/j.mri.2012.11.014.

Cirak, S; Foley, AR; Herrmann, R; Willer, T; Yau, S; Stevens, E; Torelli, S; ... Muntoni, F; + view all (2013) ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain , 136 (1) 269 -281. 10.1093/brain/aws312. Green open access
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Clayden, JD; (2013) Imaging connectivity: MRI and the structural networks of the brain. Funct Neurol , 28 (3) pp. 197-203. 10.11138/FNeur/2013.28.3.197.

Clayden, JD; Dayan, M; Clark, CA; (2013) Principal networks. PLoS One , 8 (4) , Article e60997. 10.1371/journal.pone.0060997. Green open access
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Cohen, JM; Wilson, R; Shah, P; Baxendale, HE; Brown, JS; (2013) Lack of cross-protection against invasive pneumonia caused by heterologous strains following murine Streptococcus pneumoniae nasopharyngeal colonisation despite whole cell ELISAs showing significant cross-reactive IgG. VACCINE , 31 (19) pp. 2328-2332. 10.1016/j.vaccine.2013.03.013.

Cohen, RT; Strunk, RC; Field, JJ; Rosen, CL; Kirkham, FJ; Redline, S; Stocks, J; ... DeBaun, MR; + view all (2013) Environmental Tobacco Smoke and Airway Obstruction in Children With Sickle Cell Anemia. CHEST , 144 (4) pp. 1323-1329. 10.1378/chest.12-1569.

Colombo, I; Scoto, M; Maggi, L; Manzur, A; Robb, S; Cullup, T; Phadke, R; ... Muntoni, F; + view all (2013) Clinical, morphological and molecular study of a large cohort of patients with congenital myopathies. JOURNAL OF NEUROLOGY , 260 S42-S43.

Cooper, JM; Gadian, DG; Jentschke, S; Goldman, A; Munoz, M; Pitts, G; Banks, T; ... Vargha-Khadem, F; + view all (2013) Neonatal Hypoxia, Hippocampal Atrophy, and Memory Impairment: Evidence of a Causal Sequence. Cereb Cortex 10.1093/cercor/bht332. (In press). Green open access
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Cooper, R; Pinto Pereira, SM; Power, C; Hyppönen, E; (2013) Parental obesity and risk factors for cardiovascular disease among their offspring in mid-life: findings from the 1958 British Birth Cohort Study. International Journal of Obesity , 37 (12) 1590 -1596. 10.1038/ijo.2013.40. Green open access
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Coppola, A; Tostevin, A; McTague, A; Pressler, RM; Cross, JH; Sisodiya, SM; (2013) Myoclonic Epilepsy in a Child With 17q22q23.1 Deletion. AMERICAN JOURNAL OF MEDICAL GENETICS PART A , 161 (8) pp. 2036-2039. 10.1002/ajmg.a.36010.

Counsell, J; Ferrer, V; Meng, J; Morgan, J; Muntoni, F; Danos, O; (2013) Development of a recombinogenic lentivirus for the delivery of full-length human dystrophin cDNA. In: (Proceedings) Conference of the British-Society-for-Gene-and-Cell-Therapy (BSGCT). (pp. A37-A38). MARY ANN LIEBERT INC

Cousminer, DL; Berry, DJ; Timpson, NJ; Ang, W; Thiering, E; Byrne, EM; Taal, HR; ... Widen, E; + view all (2013) Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. HUMAN MOLECULAR GENETICS , 22 (13) pp. 2735-2747. 10.1093/hmg/ddt104.

Cox, SE; Makani, J; Newton, CR; Prentice, AM; Kirkham, FJ; (2013) Hematological and Genetic Predictors of Daytime Hemoglobin Saturation in Tanzanian Children with and without Sickle Cell Anemia. ISRN Hematol , 2013 472909-. 10.1155/2013/472909. Gold open access

Crisp, S; Meyer, E; Gregory, A; Archer, H; Hayflick, S; Kurian, MA; de Silva, R; (2013) A RETT-LOOK-ALIKE WITH BRAIN IRON ACCUMULATION. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 84 (11) 10.1136/jnnp-2013-306573.38.

Croft, LJ; Rankin, PM; Liegeois, F; Banks, T; Cross, JH; Vargha-Khadem, F; Baldeweg, T; (2013) To speak, or not to speak? The feasibility of imaging overt speech in children with epilepsy. EPILEPSY RESEARCH , 107 (1-2) pp. 195-199. 10.1016/j.eplepsyres.2013.08.008.

Croft, LJ; Rankin, PM; Liégeois, F; Banks, T; Cross, JH; Vargha-Khadem, F; Baldeweg, T; (2013) To speak, or not to speak? The feasibility of imaging overt speech in children with epilepsy. Epilepsy Research , 107 (1-2) pp. 195-199. 10.1016/j.eplepsyres.2013.08.008.

Cross, JH; (2013) New Research With Diets and Epilepsy. JOURNAL OF CHILD NEUROLOGY , 28 (8) pp. 970-974. 10.1177/0883073813487593.

Cross, JH; (2013) Nodding syndrome-a challenge for African public health. LANCET NEUROLOGY , 12 (2) pp. 125-126. 10.1016/S1474-4422(12)70326-5.

Cross, JH; Arora, R; Heckemann, RA; Gunny, R; Chong, K; Carr, L; Baldeweg, T; ... Bockenhauer, D; + view all (2013) Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. Dev Med Child Neurol , 55 (9) 846 - 856. 10.1111/dmcn.12171. Green open access
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Cross, JH; Kluger, G; Lagae, L; (2013) Advancing the management of childhood epilepsies. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , 17 (4) pp. 334-347. 10.1016/j.ejpn.2013.02.003.

Cross, JH; Wait, S; Arzimanoglou, A; Beghi, E; Bennett, C; Lagae, L; Mifsud, J; ... Harvey, G; + view all (2013) Are we failing to provide adequate rescue medication to children at risk of prolonged convulsive seizures in schools? ARCHIVES OF DISEASE IN CHILDHOOD , 98 (10) 777-+. 10.1136/archdischild-2013-304089.

D

De Haan, M; (2013) Development of brain networks for visual social-emotional information processing in infancy. In: Legerstee, M and Haley, D and Bornstein, M, (eds.) The Developing Infant Mind: Integrating Biology and Experience. (pp. 123-145). Guilford Press: London.

Deeb, J; Pitt, MC; (2013) Stimulation single fibre EMG incorporated into an investigative strategy. [Lecture]. Presented at: Ninth international Congress "Improving the use of EMG in paediatrics", Downing College Cambridge.

Dlamini, N; Josifova, DJ; Paine, SML; Wraige, E; Pitt, M; Murphy, AJ; King, A; ... Jungbluth, H; + view all (2013) Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene. NEUROMUSCULAR DISORDERS , 23 (5) pp. 391-398. 10.1016/j.nmd.2013.02.001.

Dlamini, N; Josifova, DJ; Paine, SML; Wraige, E; Pitt, M; Murphy, AJ; King, A; ... Jungbluth, H; + view all (2013) Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene. Neuromuscular Disorders , 23 (5) pp. 391-398. 10.1016/j.nmd.2013.02.001.

Dlamini, N; Voermans, NC; Lillis, S; Stewart, K; Kamsteeg, E-J; Drost, G; Quinlivan, R; ... Jungbluth, H; + view all (2013) Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. NEUROMUSCULAR DISORDERS , 23 (7) pp. 540-548. 10.1016/j.nmd.2013.03.008.

Dlamini, N; Voermans, NC; Lillis, S; Stewart, K; Kamsteeg, EJ; Drost, G; Quinlivan, R; ... Jungbluth, H; + view all (2013) Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscular Disorders , 23 (7) pp. 540-548. 10.1016/j.nmd.2013.03.008.

Do, R; Willer, CJ; Schmidt, EM; Sengupta, S; Gao, C; Peloso, GM; Gustafsson, S; ... Kathiresan, S; + view all (2013) Common variants associated with plasma triglycerides and risk for coronary artery disease. NATURE GENETICS , 45 (11) 1345-+. 10.1038/ng.2795.

Dowling, MM; Hynan, LS; Lo, W; Licht, DJ; McClure, C; Yager, JY; Dlamini, N; ... International Paediatric Stroke Study Group, ; + view all (2013) International Paediatric Stroke Study: stroke associated with cardiac disorders. Int J Stroke , 8 Supp pp. 39-44. 10.1111/j.1747-4949.2012.00925.x.

Dyrby, TB; Sogaard, LV; Hall, MG; Ptito, M; Alexander, DC; (2013) Contrast and stability of the axon diameter index from microstructure imaging with diffusion MRI. Magn Reson Med , 70 (3) 711 - 721. 10.1002/mrm.24501. Green open access
file

de Milly, M-N; Alison, M; Arthurs, O; Vuillard, E; Oury, J-F; Elmaleh-Berges, M; Sebag, G; (2013) Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate? PRENATAL DIAGNOSIS , 33 (3) pp. 273-278. 10.1002/pd.4058.

E

Easter, A; Bye, A; Taborelli, E; Corfield, F; Schmidt, U; Treasure, J; Micali, N; (2013) Recognising the Symptoms: How Common Are Eating Disorders in Pregnancy? EUROPEAN EATING DISORDERS REVIEW , 21 (4) pp. 340-344. 10.1002/erv.2229.

Easter, A; Naumann, U; Northstone, K; Schmidt, U; Treasure, J; Micali, N; (2013) A Longitudinal Investigation of Nutrition and Dietary Patterns in Children of Mothers with Eating Disorders. JOURNAL OF PEDIATRICS , 163 (1) 173-U574. 10.1016/j.jpeds.2012.11.092.

Eaton, S; Hall, NJ; (2013) The potential of probiotics in the fight against necrotizing enterocolitis. EXPERT REVIEW OF GASTROENTEROLOGY & HEPATOLOGY , 7 (7) pp. 581-583. 10.1586/17474124.2013.827480.

Ellis, JA; Vroom, E; Muntoni, F; (2013) 195th ENMC International Workshop: Newborn screening for Duchenne muscular dystrophy 14-16th December, 2012, Naarden, The Netherlands. NEUROMUSCULAR DISORDERS , 23 (8) pp. 682-689. 10.1016/j.nmd.2013.05.008.

Eltze, CM; Chong, WK; Cox, T; Whitney, A; Cortina-Borja, M; Chin, RFM; Scott, RC; (2013) A population-based study of newly diagnosed epilepsy in infants. EPILEPSIA , 54 (3) pp. 437-445. 10.1111/epi.12046.

Elward, RL; Evans, LH; Wilding, EL; (2013) The role of working memory capacity in the control of recollection. CORTEX , 49 (6) pp. 1452-1462. 10.1016/j.cortex.2012.07.003.

Ettou, S; Humbrecht, C; Benet, B; Billot, K; d'Allard, D; Mariot, V; Goodhardt, M; ... Fontenay, M; + view all (2013) Epigenetic Control of NF-kappa B-Dependent FAS Gene Transcription during Progression of Myelodysplastic Syndromes. MOLECULAR CANCER RESEARCH , 11 (7) pp. 724-735. 10.1158/1541-7786.MCR-12-0607.

F

Fall, T; Hägg, S; Mägi, R; Ploner, A; Fischer, K; Horikoshi, M; Sarin, AP; ... European Network for Genetic and Genomic Epidemiology (ENGAGE) c, ; + view all (2013) The Role of Adiposity in Cardiometabolic Traits: A Mendelian Randomization Analysis. PLoS Med , 10 (6) , Article e1001474. 10.1371/journal.pmed.1001474. Green open access
file

Fawcett, K; Mehrabian, M; Liu, Y-T; Hamed, S; Elahi, E; Revesz, T; Koutsis, G; ... Houlden, H; + view all (2013) The frequency of spinocerebellar ataxia type 23 in a UK population. JOURNAL OF NEUROLOGY , 260 (3) pp. 856-859. 10.1007/s00415-012-6721-1.

Fawcett, K; Mehrabian, M; Liu, YT; Hamed, S; Elahi, E; Revesz, T; Koutsis, G; ... Houlden, H; + view all (2013) Erratum to: The frequency of spinocerebellar ataxia type 23 in a UK population. J Neurol , 260 (3) 860-. 10.1007/s00415-012-6791-0.

Fawcett, K; Mehrabian, M; Liu, YT; Hamed, S; Elahi, E; Revesz, T; Koutsis, G; ... Houlden, H; + view all (2013) The frequency of spinocerebellar ataxia type 23 in a UK population. Journal of Neurology , 260 (3) pp. 856-859. 10.1007/s00415-012-6721-1.

Feng, L; Scoto, M; Chambers, D; Phadke, R; Muntoni, F; Sewry, CA; (2013) The presence of developmental and fetal/neonatal myosin in neonatal human muscle. In: (Proceedings) 18th International Congress of the World-Muscle-Society (WMS). (pp. p. 793). PERGAMON-ELSEVIER SCIENCE LTD

Ferrini, F; Trang, T; Mattioli, T-AM; Laffray, S; Del'Guidice, T; Lorenzo, L-E; Castonguay, A; ... De Koninck, Y; + view all (2013) Morphine hyperalgesia gated through microglia-mediated disruption of neuronal Cl⁻ homeostasis. Nat Neurosci , 16 (2) pp. 183-192. 10.1038/nn.3295.

Fletcher, S; Meloni, PL; Johnsen, RD; Wong, BL; Muntoni, F; Wilton, SD; (2013) Antisense suppression of donor splice site mutations in the dystrophin gene transcript. Mol Genet Genomic Med , 1 (3) pp. 162-173. 10.1002/mgg3.19.

Foley, AR; Menezes, MP; Pandraud, A; Gonzalez, MA; Al-Odaib, A; Abrams, AJ; Sugano, K; ... Houlden, H; + view all (2013) Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain , 137 (1) , Article awt315. 10.1093/brain/awt315. Green open access
filefile

Foley, AR; Quijano-Roy, S; Collins, J; Straub, V; McCallum, M; Deconinck, N; Mercuri, E; ... Boennemann, CG; + view all (2013) Natural history of pulmonary function in collagen VI-related myopathies: An international study. In: (Proceedings) 18th International Congress of the World-Muscle-Society (WMS). (pp. pp. 741-742). PERGAMON-ELSEVIER SCIENCE LTD

Foley, AR; Quijano-Roy, S; Collins, J; Straub, V; McCallum, M; Deconinck, N; Mercuri, E; ... Boennemann, CG; + view all (2013) Natural history of pulmonary function in collagen VI-related myopathies. BRAIN , 136 pp. 3625-3633. 10.1093/brain/awt284.

Fong, CY; Osborne, JP; Edwards, SW; Hemingway, C; Hancock, E; Johnson, AL; Kennedy, CR; ... O'Callaghan, FJK; + view all (2013) An investigation into the relationship between vigabatrin, movement disorders, and brain magnetic resonance imaging abnormalities in children with infantile spasms. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , 55 (9) pp. 862-867. 10.1111/dmcn.12188.

Fosi, T; Boyd, S; De Haan, M; Clark, CA; Scott, RC; Neville, BG; (2013) THE TEMPORAL LOBE IN WEST SYNDROME (WS) SHOWS ABERRANT STRUCTURAL REMODELLING AND IS FUNCTIONALLY IMPAIRED: ELECTROPHYSIOLOGICAL AND QUANTITATIVE MAGNETIC RESONANCE IMAGING EVIDENCE. In: (Proceedings) 30th International Epilepsy Congress. (pp. p. 335). WILEY-BLACKWELL

Fosi, T; Lax-Pericall, MT; Scott, RC; Neville, BG; Aylett, SE; (2013) Methylphenidate treatment of attention deficit hyperactivity disorder in young people with learning disability and difficult-to-treat epilepsy: Evidence of clinical benefit. Epilepsia , 54 (12) pp. 2071-2081. 10.1111/epi.12399. Green open access
file

G

Ganesan, V; (2013) Outcome and rehabilitation after childhood stroke. Handb Clin Neurol , 112 pp. 1079-1083. 10.1016/B978-0-444-52910-7.00025-8.

Ganesan, V; Robertson, F; Berg, J; (2013) Neurovascular screening in hereditary haemorrhagic telangiectasia: dilemmas for the paediatric neuroscience community. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , 55 (5) pp. 405-407. 10.1111/j.1469-8749.2012.04425.x.

Garralda, ME; McConachie, H; Le Couteur, A; Sriranjan, S; Chakrabarti, I; Cirak, S; Guglieri, M; ... Muntoni, F; + view all (2013) Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy. Child Care Health Dev , 39 (3) 449 - 455. 10.1111/j.1365-2214.2012.01387.x. Green open access
file

Gavlak, JC; Stocks, J; Laverty, A; Fettes, E; Bucks, R; Sonnappa, S; Cooper, J; ... Kirkham, FJ; + view all (2013) The Young Everest Study: preliminary report of changes in sleep and cerebral blood flow velocity during slow ascent to altitude in unacclimatised children. Archives of Disease in Childhood , 98 (5) 356 -362. 10.1136/archdischild-2012-302512. Green open access
file

Gemmete, JJ; Davagnanam, I; Toma, AK; Brew, S; Ganesan, V; (2013) Arterial Ischemic Stroke in Children. NEUROIMAGING CLINICS OF NORTH AMERICA , 23 (4) 781-+. 10.1016/j.nic.2013.03.019.

Gibbard, CR; Seunarine, KK; Clayden, JD; Clark, CA; Ren, J; Skuse, DH; (2013) White matter microstructure correlates with autism trait severity in a combined clinical-control sample of high-functioning adults. NeuroImage: Clinical , 3 106 - 114. 10.1016/j.nicl.2013.07.007. Green open access
file

Grant, LR; O'Brien, SE; Burbidge, P; Haston, M; Zancolli, M; Cowell, L; Johnson, M; ... Goldblatt, D; + view all (2013) Comparative immunogenicity of 7 and 13-valent pneumococcal conjugate vaccines and the development of functional antibodies to cross-reactive serotypes. PLoS One , 8 (9) , Article e74906. 10.1371/journal.pone.0074906. Green open access
file

Grech-Sollars, M; Saunders, DE; Phipps, KP; Clayden, JD; Clark, CA; (2013) Response to "Reply to 'Survival analysis for apparent diffusion coefficient measures in children with embryonal brain tumors,' by Grech-Sollars et al". NEURO-ONCOLOGY , 15 (3) p. 268. 10.1093/neuonc/not017.

Grech-Sollars, M; Saunders, DE; Phipps, KP; Kaur, R; Clayden, JD; Clark, CA; (2013) CHALLENGES FOR THE FUNCTIONAL DIFFUSION MAP IN PAEDIATRIC BRAIN TUMOURS. PEDIATRIC BLOOD & CANCER , 60 p. 139.

Grech-Sollars, M; Saunders, DE; Phipps, KP; Kaur, R; Paine, SM; Jacques, TS; Clayden, JD; (2013) Challenges for the functional diffusion map in pediatric brain tumors. Neuro Oncol , 16 (3) pp. 449-456. 10.1093/neuonc/not197. Green open access
file

Guerreiro, R; Kara, E; Le Ber, I; Bras, J; Rohrer, JD; Taipa, R; Lashley, T; ... Houlden, H; + view all (2013) Genetic Analysis of Inherited Leukodystrophies Genotype-Phenotype Correlations in the CSF1R Gene. JAMA NEUROLOGY , 70 (7) pp. 875-882. 10.1001/jamaneurol.2013.698.

Gupta, VA; Ravenscroft, G; Shaheen, R; Todd, EJ; Swanson, LC; Shiina, M; Ogata, K; ... Beggs, AH; + view all (2013) Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. AMERICAN JOURNAL OF HUMAN GENETICS , 93 (6) pp. 1108-1117. 10.1016/j.ajhg.2013.10.020.

Gwer, S; Chengo, E; Newton, CRJC; Kirkham, FJ; (2013) Unexpected Relationship Between Tympanometry and Mortality in Children With Nontraumatic Coma. PEDIATRICS , 132 (3) E713-E717. 10.1542/peds.2012-3264.

Gwer, S; Sheward, V; Birch, A; Marchbanks, R; Idro, R; Newton, CR; Kirkham, FJ; ... Lim, M; + view all (2013) The tympanic membrane displacement analyser for monitoring intracranial pressure in children. CHILDS NERVOUS SYSTEM , 29 (6) pp. 927-933. 10.1007/s00381-013-2036-5.

Gwer, S; Sheward, V; Birch, A; Marchbanks, R; Idro, R; Newton, CR; Kirkham, FJ; ... Lim, M; + view all (2013) The tympanic membrane displacement analyser for monitoring intracranial pressure in children. Child's Nervous System , 29 (6) pp. 927-933. 10.1007/s00381-013-2036-5.

Gwer, SA; Idro, RI; Fegan, G; Chengo, EM; Mpoya, A; Kivaya, E; Crawley, J; ... Newton, CR; + view all (2013) Fosphenytoin for seizure prevention in childhood coma in Africa: A randomized clinical trial. JOURNAL OF CRITICAL CARE , 28 (6) pp. 1086-1092. 10.1016/j.jcrc.2013.09.001.

Gwer, SA; Idro, RI; Fegan, G; Chengo, EM; Mpoya, A; Kivaya, E; Crawley, J; ... Newton, CR; + view all (2013) Fosphenytoin for seizure prevention in childhood coma in Africa: A randomized clinical trial. Journal of Critical Care , 28 (6) pp. 1086-1092. 10.1016/j.jcrc.2013.09.001.

H

Haan, MD; (2013) Infant EEG and Event-Related Potentials. Psychology Press

Hales, P; Phipps, K; Kaur, R; Clark, C; (2013) A TWO-STAGE MODEL FOR IN VIVO ASSESSMENT OF BRAIN TUMOUR PERFUSION AND ABNORMAL VASCULAR STRUCTURE USING ARTERIAL SPIN LABELLING. PEDIATRIC BLOOD & CANCER , 60 pp. 138-139.

Hales, PW; Clark, CA; (2013) Combined arterial spin labeling and diffusion-weighted imaging for noninvasive estimation of capillary volume fraction and permeability-surface product in the human brain. JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM , 33 (1) pp. 67-75. 10.1038/jcbfm.2012.125.

Haliasos, N; Brew, S; Robertson, F; Hayward, R; Thompson, D; Chakraborty, A; (2013) Pre-operative embolisation of choroid plexus tumours in children. Part II. Observations on the effects on CSF production. Childs Nerv Syst , 29 (1) pp. 71-76. 10.1007/s00381-012-1913-7.

Haliasos, N; Brew, S; Robertson, F; Hayward, R; Thompson, D; Chakraborty, A; (2013) Preoperative embolisation of choroid plexus tumours in children: part I-does the reduction of perioperative blood loss affect the safety of subsequent surgery? Childs Nerv Syst , 29 (1) pp. 65-70. 10.1007/s00381-012-1912-8.

Hall, NJ; Eaton, S; Pierro, A; (2013) Necrotizing enterocolitis: Prevention, treatment, and outcome. JOURNAL OF PEDIATRIC SURGERY , 48 (12) pp. 2359-2367. 10.1016/j.jpedsurg.2013.08.006.

Hall, NJ; Wyatt, M; Curry, JI; Kiely, EM; (2013) A standardised investigative strategy prior to revisional oesophageal surgery in children: High incidence of unexpected findings. JOURNAL OF PEDIATRIC SURGERY , 48 (11) pp. 2241-2246. 10.1016/j.jpedsurg.2013.03.051.

Hammer, MB; Eleuch-Fayache, G; Schottlaender, LV; Nehdi, H; Gibbs, JR; Arepalli, SK; Chong, SB; ... Singleton, AB; + view all (2013) Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity. AMERICAN JOURNAL OF HUMAN GENETICS , 92 (2) pp. 245-251. 10.1016/j.ajhg.2012.12.012.

Hamurtekin, E; Fitzsimmons, BL; Shubayev, VI; Grafe, MR; Deumens, R; Yaksh, TL; Walker, SM; (2013) Evaluation of Spinal Toxicity and Long-term Spinal Reflex Function after Intrathecal Levobupivaciane in the Neonatal Rat. Anesthesiology , 119 (1) 142 - 155. 10.1097/ALN.0b013e31828fc7e7. Green open access
file

Hancock, EC; Cross, JH; (2013) Treatment of Lennox-Gastaut syndrome. COCHRANE DATABASE OF SYSTEMATIC REVIEWS (2) 10.1002/14651858.CD003277.pub3.

Hayflick, SJ; Kruer, MC; Gregory, A; Haack, TB; Kurian, MA; Houlden, HH; Anderson, J; ... Hogarth, P; + view all (2013) Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. BRAIN , 136 pp. 1708-1717. 10.1093/brain/awt095.

He, BJ; Nolte, G; Nagata, K; Takano, D; Yamazaki, T; Fujimaki, Y; Maeda, T; ... Horn, H; + view all (2013) Abstracts of Presentations at the International Conference on Basic and Clinical Multimodal Imaging (BaCI), a Joint Conference of the International Society for Neuroimaging in Psychiatry (ISNIP), the International Society for Functional Source Imaging (ISFSI), the International Society for Bioelectromagnetism (ISBEM), the International Society for Brain Electromagnetic Topography (ISBET), and the EEG and Clinical Neuroscience Society (ECNS), in Geneva, Switzerland, September 5-8, 2013. Presented at: UNSPECIFIED, United States.

He, WA; Berardi, E; Cardillo, VM; Acharyya, S; Aulino, P; Thomas-Ahner, J; Wang, J; ... Guttridge, DC; + view all (2013) NF-kappa B-mediated Pax7 dysregulation in the muscle microenvironment promotes cancer cachexia. JOURNAL OF CLINICAL INVESTIGATION , 123 (11) pp. 4821-4835. 10.1172/JCI68523.

Hernan, AE; Holmes, GL; Isaev, D; Scott, RC; Isaeva, E; (2013) Altered short-term plasticity in the prefrontal cortex after early life seizures. NEUROBIOLOGY OF DISEASE , 50 pp. 120-126. 10.1016/j.nbd.2012.10.007.

Hilbrink, EE; Sakkalou, E; Ellis-Davies, K; Fowler, NC; Gattis, M; (2013) Selective and faithful imitation at 12 and 15 months. DEVELOPMENTAL SCIENCE , 16 (6) pp. 828-840. 10.1111/desc.12070.

Hogan, AM; Telfer, PT; Kirkham, FJ; de Haan, M; (2013) Precursors of executive function in infants with sickle cell anemia. Journal of Child Neurology , 28 (10) 1197 -1202. 10.1177/0883073812453495. Green open access
file

Hollingworth, MA; Paine, SML; Latak, K; Ganapathi, A; Miller, K; Becherini, F; Cross, JH; ... Jacques, TS; + view all (2013) The balloon cell vascular niche: anatomical evidence of a stem cell-blood vessel relationship in epilepsy-associated malformations of cortical development. In: (Proceedings) 114th Meeting of the British-Neuropathological-Society / Symposium on Advances in Motor Neuron Diseases. (pp. pp. 32-33). WILEY-BLACKWELL

Horikoshi, M; Yaghootkar, H; Mook-Kanamori, DO; Sovio, U; Taal, HR; Hennig, BJ; Bradfield, JP; ... Freathy, RM; + view all (2013) New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. NATURE GENETICS , 45 (1) 76-U115. 10.1038/ng.2477.

Hughes, A; Lee, C; Kirkham, F; Durnford, AJ; (2013) Delayed extradural haemorrhage: a case for intracranial pressure monitoring in sedated children with traumatic brain injury within tertiary centres. BMJ Case Rep , 2013 10.1136/bcr-2012-007543.

Hughes, A; Lee, C; Kirkham, F; Durnford, AJ; (2013) Delayed extradural haemorrhage: a case for intracranial pressure monitoring in sedated children with traumatic brain injury within tertiary centres. BMJ case reports , 2013

Hyppoenen, E; Cavadino, A; Williams, D; Fraser, A; Vereczkey, A; Fraser, WD; Banhidy, F; ... Czeizel, AE; + view all (2013) Vitamin D and Pre-Eclampsia: Original Data, Systematic Review and Meta-Analysis. ANNALS OF NUTRITION AND METABOLISM , 63 (4) pp. 331-340. 10.1159/000358338.

I

Iro, MA; Kirkham, FJ; Macdonald, JHM; Tebruegge, M; Faust, SN; Patel, SV; (2013) VARICELLA ZOSTER VIRUS CENTRAL NERVOUS SYSTEM IMMUNE RECONSTITUTION INFLAMMATORY SYNDROME PRESENTING IN A CHILD. PEDIATRIC INFECTIOUS DISEASE JOURNAL , 32 (11) pp. 1283-1284. 10.1097/INF.0b013e31829aa4fc.

J

Jaffer, F; Reilly, MM; Quinlivan, R; Muntoni, F; Turner, C; Parton, M; Lunn, M; ... Hanna, MG; + view all (2013) EMERGENCY NEUROMUSCULAR ADMISSIONS ARE AVOIDABLE: A REGIONAL AUDIT OF UNPLANNED HOSPITAL ADMISSIONS OF NEUROMUSCULAR PATIENTS 2009-2011: FINAL RESULTS AND RECOMMENDATIONS. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 84 (11) 10.1136/jnnp-2013-306573.7.

Jeffery, KJ; Jovalekic, A; Verriotis, M; Hayman, R; (2013) Navigating in a three-dimensional world. Behavioral and Brain Sciences , 36 (5) 523 - 543. 10.1017/S0140525X12002476.

Jeffery, KJ; Jovalekic, A; Verriotis, M; Hayman, R; (2013) A framework for three-dimensional navigation research. BEHAVIORAL AND BRAIN SCIENCES , 36 (5) pp. 571-587. 10.1017/S0140525X13001556.

Jenks, KR; Lucas, MM; Duffy, BA; Robbins, AA; Gimi, B; Barry, JM; Scott, RC; (2013) Enrichment and Training Improve Cognition in Rats with Cortical Malformations. PLOS ONE , 8 (12) 10.1371/journal.pone.0084492.

Jette, N; Ali, A; Austin, JK; Birbeck, GL; de Boer, H; Braga, P; Cross, JH; ... Jacoby, A; + view all (2013) STIGMA IN EPILEPSY - AN INTERNATIONAL PERSPECTIVE. In: (Proceedings) 30th International Epilepsy Congress. (pp. pp. 12-13). WILEY-BLACKWELL

Joanne, P; Chourbagi, O; Hourde, C; Ferry, A; Butler-Browne, G; Vicart, P; Dumonceaux, J; (2013) Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. SKELETAL MUSCLE , 3 (ARTN 4) 10.1186/2044-5040-3-4.

Johnson, EK; Li, B; Yoon, JH; Flanigan, KM; Martin, PT; Ervasti, J; Montanaro, F; (2013) Identification of New Dystroglycan Complexes in Skeletal Muscle. PLOS ONE , 8 (8) 10.1371/journal.pone.0073224.

K

Kara, E; Schottlaender, L; Berardo, A; Reisin, R; Hehir, J; Hughes, D; Paudel, R; ... Houlden, H; + view all (2013) SPG11 sequencing in worldwide populations of familial and sporadic spastic paraplegia patients reveals frequent mutations and the common association of parkinsonian features. MOVEMENT DISORDERS , 28 S397-S397.

Kawadler, JM; Clayden, JD; Kirkham, FJ; Cox, TC; Saunders, DE; Clark, CA; (2013) Subcortical and cerebellar volumetric deficits in paediatric sickle cell anaemia. BRITISH JOURNAL OF HAEMATOLOGY , 163 (3) pp. 373-376. 10.1111/bjh.12496.

Kawadler, JM; Clayden, JD; Kirkham, FJ; Cox, TC; Saunders, DE; Clark, CA; (2013) Subcortical volumetric differences in children with sickle cell disease. BRITISH JOURNAL OF HAEMATOLOGY , 161 p. 3.

Kilburn-Toppin, F; Arthurs, OJ; Tasker, AD; Set, PAK; (2013) Detection of pulmonary nodules at paediatric CT: maximum intensity projections and axial source images are complementary. PEDIATRIC RADIOLOGY , 43 (7) pp. 820-826. 10.1007/s00247-012-2597-6.

Kirkby, J; Bonner, R; Lum, S; Bates, P; Morgan, V; Strunk, RC; Kirkham, F; ... Stocks, J; + view all (2013) Interpretation of pediatric lung function: Impact of ethnicity. Pediatric Pulmonology , 48 (1) pp. 20-26. 10.1002/ppul.22538.

Kirkham, FJ; (2013) Guidelines for the management of encephalitis in children. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , 55 (2) pp. 107-110. 10.1111/j.1469-8749.2012.04410.x.

Kirkham, FJ; Ashwal, S; (2013) Coma and brain death. Handb Clin Neurol , 111 pp. 43-61. 10.1016/B978-0-444-52891-9.00005-1.

Kleen, JK; Scott, RC; Holmes, GL; Roberts, DW; Rundle, MM; Testorf, M; Lenck-Santini, P-P; (2013) Hippocampal interictal epileptiform activity disrupts cognition in humans. NEUROLOGY , 81 (1) pp. 18-24. 10.1212/WNL.0b013e318297ee50.

Klein, A; Pitt, MC; McHugh, JC; Niks, EH; Sewry, CA; Phadke, R; Feng, L; ... Robb, SA; + view all (2013) DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children. NEUROMUSCULAR DISORDERS , 23 (11) pp. 883-891. 10.1016/j.nmd.2013.06.002.

Krueger, DA; Northrup, H; Northrup, H; Krueger, DA; Roberds, S; Smith, K; Sampson, J; ... Frost, MD; + view all (2013) Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. PEDIATRIC NEUROLOGY , 49 (4) pp. 255-265. 10.1016/j.pediatrneurol.2013.08.002.

Kuan, V; Martineau, AR; Griffiths, CJ; Hyppönen, E; Walton, R; (2013) DHCR7 mutations linked to higher vitamin D status allowed early human migration to Northern latitudes. BMC Evolutionary Biology , 13 , Article 144. 10.1186/1471-2148-13-144. Green open access
filefile

Kurian, MA; (2013) What is the role of dopamine in childhood neurological disorders? DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , 55 (6) pp. 493-494. 10.1111/dmcn.12130.

Kurian, MA; (2013) What is the role of dopamine in childhood neurological disorders? Developmental Medicine and Child Neurology , 55 (6) pp. 493-494. 10.1111/dmcn.12130.

Kurian, MA; Hayflick, SJ; (2013) Pantothenate Kinase-Associated Neurodegeneration (PKAN) and PLA2G6-Associated Neurodegeneration (PLAN): Review of Two Major Neurodegeneration with Brain Iron Accumulation (NBIA) Phenotypes. METAL RELATED NEURODEGENERATIVE DISEASE , 110 pp. 49-71. 10.1016/B978-0-12-410502-7.00003-X.

L

L'Esperance, VS; Cox, SE; Simpson, D; Gill, C; Makani, J; Soka, D; Mgaya, J; ... Clough, GF; + view all (2013) Peripheral vascular response to inspiratory breath hold in paediatric homozygous sickle cell disease. EXPERIMENTAL PHYSIOLOGY , 98 (1) pp. 49-56. 10.1113/expphysiol.2011.064055.

Lambers, M; Goldenberg, NA; Kenet, G; Kirkham, FJ; Manner, D; Bernard, T; Mesters, RM; ... Nowak-Goettl, U; + view all (2013) Role of Reduced ADAMTS13 in Arterial Ischemic Stroke: A Pediatric Cohort Study. ANNALS OF NEUROLOGY , 73 (1) pp. 58-64. 10.1002/ana.23735.

Lee, J; (2013) The management of low back pain. Nurs Times , 109 (51) pp. 10-11.

Lee, J; Gupta, S; Price, C; Baranowski, AP; (2013) Low back and radicular pain: a pathway for care developed by the British Pain Society. BRITISH JOURNAL OF ANAESTHESIA , 111 (1) pp. 112-120. 10.1093/bja/aet172.

Liegeois, FJ; Mahony, K; Connelly, A; Pigdon, L; Tournier, J-D; Morgan, AT; (2013) Pediatric traumatic brain injury: Language outcomes and their relationship to the arcuate fasciculus. BRAIN AND LANGUAGE , 127 (3) pp. 388-398. 10.1016/j.bandl.2013.05.003.

Liégeois, F; Tournier, JD; Pigdon, L; Connelly, A; Morgan, AT; (2013) Corticobulbar tract changes as predictors of dysarthria in childhood brain injury. Neurology , 80 (10) 926 - 932. 10.1212/WNL.0b013e3182840c6d. Green open access
file

Liégeois, FJ; Mahony, K; Connelly, A; Tournier, J-D; Pigdon, L; Morgan, AT; (2013) Pediatric traumatic brain injury: Language outcomes and their relationship to the arcuate fasciculus. Brain and Language , 127 (3) 388 - 398. 10.1016/j.bandl.2013.05.003. Green open access
file

Loseth, S; Voermans, NC; Torbergsen, T; Lillis, S; Jonsrud, C; Lindal, S; Kamsteeg, E-J; ... Jungbluth, H; + view all (2013) A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. JOURNAL OF NEUROLOGY , 260 (6) pp. 1504-1510. 10.1007/s00415-012-6817-7.

Lum, S; Stocks, J; Stanojevic, S; Wade, A; Robinson, P; Gustafsson, P; Brown, M; ... Sonnappa, S; + view all (2013) Age and height dependence of lung clearance index and functional residual capacity. EUROPEAN RESPIRATORY JOURNAL , 41 (6) pp. 1371-1377. 10.1183/09031936.00005512.

M

Maddock, J; Berry, D; Geoffroy, MC; Power, C; Hyppoenen, E; (2013) VITAMIN D AND COMMON MENTAL DISORDERS IN MID-LIFE: CROSS-SECTIONAL AND PROSPECTIVE FINDINGS. ANNALS OF NUTRITION AND METABOLISM , 63 p. 850.

Maddock, J; Berry, DJ; Geoffroy, M-C; Power, C; Hyppoenen, E; (2013) Vitamin D and common mental disorders in mid-life: Cross-sectional and prospective findings. CLINICAL NUTRITION , 32 (5) pp. 758-764. 10.1016/j.clnu.2013.01.006.

Maddock, J; Geoffroy, MC; Power, C; Hyppoenen, E; (2013) 25-HYDROXYVITAMIN D AND COGNITIVE PERFORMANCE IN MID-LIFE. ANNALS OF NUTRITION AND METABOLISM , 63 p. 849.

Maggi, L; Scoto, M; Cirak, S; Robb, SA; Klein, A; Lillis, S; Cullup, T; ... Muntoni, F; + view all (2013) Congenital myopathies - Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. NEUROMUSCULAR DISORDERS , 23 (3) pp. 195-205. 10.1016/j.nmd.2013.01.004.

Mahjneh, I; Lochmueller, H; Muntoni, F; Abicht, A; (2013) DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy. NEUROMUSCULAR DISORDERS , 23 (1) pp. 36-42. 10.1016/j.nmd.2012.06.355.

Mallick, AA; Ganesan, V; Kirkham, FJ; Fallon, P; Hedderly, T; McShane, MA; Parker, AP; ... O' Callaghan, FJ; + view all (2013) The Presenting Features of Arterial Ischaemic Stroke in a Population-Based Cohort. In: (Proceedings) 42nd Annual Meeting of the Child-Neurology-Society. (pp. S131-S132). WILEY-BLACKWELL

Mallick, AA; Ganesan, V; Kirkham, FJ; Fallon, P; Hedderly, T; McShane, MA; Parker, AP; ... O'Callaghan, FJ; + view all (2013) Quality of Life One Year after Arterial Ischaemic Stroke in a Population-Based Cohort. In: (Proceedings) 42nd Annual Meeting of the Child-Neurology-Society. (pp. S185-S186). WILEY-BLACKWELL

Mallick, AA; Ganesan, V; Kirkham, FJ; Fallon, P; Hedderly, T; McShane, T; Parker, AP; ... O'Callaghan, FJ; + view all (2013) The Prevalence of Risk Factors for Childhood Arterial Ischaemic Stroke in a Population-Based Cohort. INTERNATIONAL JOURNAL OF STROKE , 8 p. 54.

Mallick, AA; Ganesan, V; Kirkham, FJ; Fallon, P; Hedderly, T; McShane, T; Parker, AP; ... O'Callaghan, FJ; + view all (2013) The Epidemiology of Childhood Stroke in Southern England. INTERNATIONAL JOURNAL OF STROKE , 8 p. 6.

Mallick, AA; Ganesan, V; Kirkham, FJ; Fallon, P; Hedderly, T; McShane, T; Parker, AP; ... O'Callaghan, FJ; + view all (2013) The Epidemiology of Childhood Stroke in Southern England: A Prospective Study using Multiple Sources of Case Ascertainment. In: (Proceedings) American-Heart-Association/American-Stroke-Association International Stroke Conference / Nursing Symposium. LIPPINCOTT WILLIAMS & WILKINS

Maniega, SM; Hernandez, MCV; Royle, NA; Aribisala, BS; Murray, C; Gow, AJ; Clayden, JD; ... Wardlaw, JM; + view all (2013) Multiparametric MR imaging shows that increased water mobility is the predominant abnormality in brain white matter hyperintensities. CEREBROVASCULAR DISEASES , 35 pp. 230-231.

Manunta, MDI; McAnulty, RJ; McDowell, A; Jin, J; Ridout, D; Fleming, J; Bottoms, SE; ... Hart, SL; + view all (2013) Airway Deposition of Nebulized Gene Delivery Nanocomplexes Monitored by Radioimaging Agents. In: (pp. pp. 471-480). AMER THORACIC SOC

Manunta, MDI; McAnulty, RJ; McDowell, A; Jin, J; Ridout, D; Fleming, J; Bottoms, SE; ... Hart, SL; + view all (2013) Airway Deposition of Nebulized Gene Delivery Nanocomplexes Monitored by Radioimaging Agents. AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY , 49 (3) pp. 471-480. 10.1165/rcmb.2013-0030OC.

Martinos, MM; Yoong, M; Patil, S; Chong, WK; Mardari, R; Chin, RF; Neville, BG; ... Scott, RC; + view all (2013) Early developmental outcomes in children following convulsive status epilepticus: a longitudinal study. Epilepsia , 54 (6) 1012 - 1019. 10.1111/epi.12136. Green open access
file

Mayhew, AG; Cano, SJ; Scott, E; Eagle, M; Bushby, K; Manzur, A; Muntoni, F; (2013) Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , 55 (11) pp. 1046-1052. 10.1111/dmcn.12220.

Mazzone, E; Bianco, F; Main, M; van den Bauwe, M; Ash, M; de Vries, R; Fagoaga Mata, J; ... Mercuri, E; + view all (2013) Six minute walk test in type III spinal muscular atrophy: A 12 month longitudinal study. NEUROMUSCULAR DISORDERS , 23 (8) pp. 624-628. 10.1016/j.nmd.2013.06.001.

McCormack, P; Woods, S; Aartsma-Rus, A; Hagger, L; Herczegfalvi, A; Heslop, E; Irwin, J; ... Ferlini, A; + view all (2013) Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational. PLoS Curr , 5 10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec. Green open access
file

McTague, A; Appleton, R; Avula, S; Cross, JH; King, MD; Jacques, TS; Bhate, S; ... Kneen, R; + view all (2013) Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. BRAIN , 136 pp. 1578-1591. 10.1093/brain/awt073.

McTague, A; Cross, JH; (2013) Treatment of Epileptic Encephalopathies. CNS DRUGS , 27 (3) pp. 175-184. 10.1007/s40263-013-0041-6.

Meng, J; Asfahani, R; Chun, S; Muntoni, F; Morgan, J; (2013) Human skeletal muscle-derived AC133+cells form functional satellite cells after intramuscular transplantation into immunodeficient host mice. In: (Proceedings) Conference of the British-Society-for-Gene-and-Cell-Therapy (BSGCT). (pp. A31-A31). MARY ANN LIEBERT INC

Mercuri, E; Muntoni, F; (2013) Muscular dystrophies. LANCET , 381 (9869) pp. 845-860. 10.1016/S0140-6736(12)61897-2.

Mercuri, E; Muntoni, F; (2013) Muscular dystrophy: new challenges and review of the current clinical trials. CURRENT OPINION IN PEDIATRICS , 25 (6) pp. 701-707. 10.1097/MOP.0b013e328365ace5.

Mitrpant, C; Porensky, P; Zhou, H; Price, L; Muntoni, F; Fletcher, S; Wilton, SD; (2013) Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy. PLoS One , 8 (4) , Article e62114. 10.1371/journal.pone.0062114. Green open access
file

Mitrpant, C; Porensky, PN; Zhou, H; Price, L; Muntoni, F; Fletcher, S; Wilton, SD; (2013) Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing. In: (Proceedings) 18th International Congress of the World-Muscle-Society (WMS). (pp. p. 771). PERGAMON-ELSEVIER SCIENCE LTD

Moledina, S; Pandya, B; Bartsota, M; Mortensen, KH; McMillan, M; Quyam, S; Taylor, AM; ... Muthurangu, V; + view all (2013) Prognostic Significance of Cardiac Magnetic Resonance Imaging in Children With Pulmonary Hypertension. CIRCULATION-CARDIOVASCULAR IMAGING , 6 (3) pp. 407-414. 10.1161/CIRCIMAGING.112.000082.

Morgan, AT; Masterton, R; Pigdon, L; Connelly, A; Liegeois, FJ; (2013) Functional magnetic resonance imaging of chronic dysarthric speech after childhood brain injury: reliance on a left-hemisphere compensatory network. BRAIN , 136 pp. 646-657. 10.1093/brain/aws355.

N

Nguyen, TT; Thia, LP; Hoo, AF; Bush, A; Aurora, P; Wade, A; Chudleigh, J; ... on behalf of the London Cystic Fibrosis Collaboration (LCFC), ; + view all (2013) Evolution of lung function during the first year of life in newborn screened cystic fibrosis infants. Thorax 10.1136/thoraxjnl-2013-204023. Green open access
filefile

Nguyen, TTD; Hoo, AF; Lum, S; Wade, A; Thia, LP; Stocks, J; (2013) New reference equations to improve interpretation of infant lung function. Pediatric Pulmonology , 48 (4) pp. 370-380. 10.1002/ppul.22656.

Northrup, H; Krueger, DA; Northrup, H; Krueger, DA; Roberds, S; Smith, K; Sampson, J; ... Frost, MD; + view all (2013) Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. PEDIATRIC NEUROLOGY , 49 (4) pp. 243-254. 10.1016/j.pediatrneurol.2013.08.001.

Nunes, VD; Sawyer, L; Neilson, J; Sarri, G; Cross, JH; (2013) Profile of lacosamide and its role in the long-term treatment of epilepsy: a perspective from the updated NICE guideline. NEUROPSYCHIATRIC DISEASE AND TREATMENT , 9 pp. 467-476. 10.2147/NDT.S32081. Gold open access

Nussey, C; Pistrang, N; Murphy, T; (2013) How does psychoeducation help? A review of the effects of providing information about Tourette syndrome and attention-deficit/hyperactivity disorder. CHILD CARE HEALTH AND DEVELOPMENT , 39 (5) pp. 617-627. 10.1111/cch.12039.

O

O'Keeffe, F; Liégeois, F; Eve, M; Ganesan, V; King, J; Murphy, T; (2013) Neuropsychological and neurobehavioral outcome following childhood arterial ischemic stroke: Attention deficits, emotional dysregulation, and executive dysfunction. Child Neuropsychol 10.1080/09297049.2013.832740. Green open access
file

O'Reilly, MA; Sakkalou, E; Bathelt, J; de Haan, M; Salt, A; Dale, N; (2013) EEG ALPHA RESPONSE TO EMOTIONAL VOCALIZATIONS IS RELATED TO SOCIAL ABILITIES IN INFANTS WITH VISUAL IMPAIRMENT. In: (Proceedings) 53rd Annual Meeting of the Society-for-Psychophysiological-Research. (pp. S50-S50). WILEY-BLACKWELL

Oates, EC; Rosser, AM; Hafezparast, M; Lek, M; Scoto, M; Greensmith, L; Auer-Grumbach, M; ... North, KN; + view all (2013) Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP). In: (Proceedings) 18th International Congress of the World-Muscle-Society (WMS). (pp. p. 798). PERGAMON-ELSEVIER SCIENCE LTD

Oates, EC; Rossor, AM; Hafezparast, M; Gonzalez, M; Speziani, F; MacArthur, DG; Lek, M; ... Reilly, MM; + view all (2013) Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia. AMERICAN JOURNAL OF HUMAN GENETICS , 92 (6) pp. 965-973. 10.1016/j.ajhg.2013.04.018.

P

Paco, S; Kalko, SG; Jou, C; Rodriguez, MA; Corbera, J; Muntoni, F; Feng, L; ... Jimenez-Mallebrera, C; + view all (2013) Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets. PLOS ONE , 8 (10) 10.1371/journal.pone.0077430.

Paco, S; Kalko, SG; Jou, C; Rodriguez, MA; Cusi, V; Corbera, J; Torner, F; ... Jimenez-Mallebrera, C; + view all (2013) Gene expression profiling identifies molecular pathways associated with collagen VI deficiency. In: (Proceedings) 18th International Congress of the World-Muscle-Society (WMS). (pp. p. 743). PERGAMON-ELSEVIER SCIENCE LTD

Pahs, G; Rankin, P; Cross, JH; Croft, L; Vargha-Khadem, F; Baldeweg, T; (2013) ASYMMETRY OF PLANUM TEMPORALE PREDICTS LANGUAGE LATERALIZATION IN CHILDREN WITH LEFT-SIDED SYMPTOMATIC FOCAL EPILEPSY. EPILEPSIA , 54 p. 305.

Pahs, G; Rankin, P; Helen Cross, J; Croft, L; Northam, GB; Liegeois, F; Greenway, S; ... Baldeweg, T; + view all (2013) Asymmetry of planum temporale constrains interhemispheric language plasticity in children with focal epilepsy. Brain , 136 (10) pp. 3163-3175. 10.1093/brain/awt225. Green open access
file

Paine, SML; Bell, DNR; Melchionda, V; Tan, J; Weereratne, C; Harrison, S; Vargha-Khadem, F; ... Jacques, TS; + view all (2013) Patterns of hippocampal sclerosis in children. In: (Proceedings) 114th Meeting of the British-Neuropathological-Society / Symposium on Advances in Motor Neuron Diseases. (pp. pp. 42-43). WILEY-BLACKWELL

Pandya, B; Quail, MA; Cullen, S; (2013) Clinical issues and outcomes in adults following repair of tetralogy of fallot. Curr Treat Options Cardiovasc Med , 15 (5) pp. 602-614. 10.1007/s11936-013-0264-3.

Pane, M; Scalise, R; Berardinelli, A; D'Angelo, G; Ricotti, V; Alfieri, P; Moroni, I; ... Mercuri, E; + view all (2013) Early neurodevelopmental assessment in Duchenne muscular dystrophy. NEUROMUSCULAR DISORDERS , 23 (6) pp. 451-455. 10.1016/j.nmd.2013.02.012.

Pane, M; Scalise, R; Berardinelli, A; D'Angelo, G; Ricotti, V; Alfieri, P; Moroni, I; ... Mercuri, E; + view all (2013) Early neurodevelopmental assessment in Duchenne muscular dystrophy. Neuromuscular Disorders , 23 (6) pp. 451-455. 10.1016/j.nmd.2013.02.012.

Pang, D; Thompson, D; (2013) Embryology, classification and surgical management of bony malformations of the craniovertebral junction. In: Di Rocco, C and Akalan, N, (eds.) Pediatric Craniovertebral Junction Diseases Surgical Management of Craniovertebral Junction Diseases in Children. (pp. 19-110). Springer

Peall, K; Smith, DJ; Kurian, M; Wardle, M; Waite, A; Hedderly, T; Lin, J; ... Morris, H; + view all (2013) Are psychiatric symptoms a core phenotype of myoclonus dystonia syndrome caused by sgce mutations? J Neurol Neurosurg Psychiatry , 84 (9) , Article e1. 10.1136/jnnp-2013-306103.24.

Peall, KJ; Lumsden, D; Kneen, R; Madhu, R; Peake, D; Gibbon, F; Lewis, H; ... Kurian, MA; + view all (2013) NKX2.1 case series: Novel mutations and additional clinical characteristics. In: (pp. S256-S257). WILEY-BLACKWELL

Peall, KJ; Smith, DJ; Kurian, MA; Wardle, M; Waite, AJ; Hedderly, T; Lin, J-P; ... Morris, HR; + view all (2013) SGCE mutations cause psychiatric disorders: clinical and genetic characterization. BRAIN , 136 pp. 294-303. 10.1093/brain/aws308.

Peall, KJ; Smith, DJ; Kurian, MA; Wardle, M; Waite, AJ; Hedderly, T; Lin, JP; ... Morris, HR; + view all (2013) SGCE mutations cause psychiatric disorders: Clinical and genetic characterization. Brain , 136 (1) pp. 294-303. 10.1093/brain/aws308.

Penton, CM; Thomas-Ahner, JM; Johnson, EK; McAllister, C; Montanaro, F; (2013) Muscle Side Population Cells from Dystrophic or Injured Muscle Adopt a Fibro-Adipogenic Fate. PLOS ONE , 8 (1) 10.1371/journal.pone.0054553.

Perry, LD; Robertson, F; Ganesan, V; (2013) Screening for Cerebrovascular Disease in Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II): An Evidence-Based Proposal. PEDIATRIC NEUROLOGY , 48 (4) pp. 294-298. 10.1016/j.pediatrneurol.2012.12.010.

Pitceathly, RDS; Rahman, S; Wedatilake, Y; Polke, JM; Cirak, S; Foley, AR; Sailer, A; ... Hanna, MG; + view all (2013) NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease. CELL REPORTS , 3 (6) pp. 1795-1805. 10.1016/j.celrep.2013.05.005.

Pitceathly, RDS; Rahman, S; Wedatilake, Y; Polke, JM; Cirak, S; Foley, AR; Sailer, A; ... Hanna, MG; + view all (2013) NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease (vol 3, pg 1795, 2013). CELL REPORTS , 4 (2) p. 402. 10.1016/j.celrep.2013.06.032. Gold open access

Pitceathly, RDS; Rahman, S; Wedatilake, Y; Polke, JM; Cirak, S; Foley, AR; Sailer, A; ... Hanna, MG; + view all (2013) NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease. Cell Reports , 3 (6) pp. 1795-1805. 10.1016/j.celrep.2013.05.005.

Pitceathly, RDS; Taanman, J-W; Rahman, S; Meunier, B; Sadowski, M; Cirak, S; Hargreaves, I; ... Hanna, MG; + view all (2013) COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood. JAMA NEUROLOGY , 70 (12) pp. 1556-1561. 10.1001/jamaneurol.2013.3242.

Pitt, M; (2013) Update in electromyography. Curr Opin Pediatr , 25 (6) pp. 676-681. 10.1097/MOP.0000000000000023.

Pitt, MC; (2013) EMG in investigation of obstetric brachial plexus palsy. [Lecture]. Presented at: One-day workshop on the management of obstetric brachial plexus palsy, Ghent, Belgium.

Pitt, MC; (2013) EMG in the PICU – clinical and neurophysiological perspective. [Lecture]. Presented at: Ninth international paediatric EMG Congress "Improving the use of EMG in paediatrics", Downing College, Cambridge.

Pitt, MC; (2013) Is my myopathy the same as your myopathy? Two nations separated by a common language. [Lecture]. Presented at: Ninth international paediatric EMG Congress "Improving the use of EMG in paediatrics", Downing College Cambridge.

Pitt, MC; (2013) Teaching the next generation-the Great Ormond Street EMG teaching archive. [Lecture]. Presented at: Ninth international paediatric Congress "Improving the use of EMG in paediatrics ", Downing College, Cambridge.

Pitt, MC; (2013) An algorithm for the safety of costal diaphragm electromyography derived from ultrasound. Muscle Nerve , 48 (6) pp. 996-997. 10.1002/mus.23962.

Poduri, A; Heinzen, EL; Chitsazzadeh, V; Lasorsa, FM; Elhosary, PC; LaCoursiere, CM; Martin, E; ... Walsh, CA; + view all (2013) SLC25A22 Is a Novel Gene for Migrating Partial Seizures in Infancy. ANNALS OF NEUROLOGY , 74 (6) pp. 873-882. 10.1002/ana.23998.

Poduri, A; Heinzen, EL; Chitsazzadeh, V; Lasorsa, FM; Elhosary, PC; Lacoursiere, CM; Martin, E; ... Walsh, CA; + view all (2013) SLC25A22 is a novel gene for migrating partial seizures in infancy. Annals of Neurology , 74 (6) pp. 873-882. 10.1002/ana.23998.

Pressler, R; Auvin, S; (2013) Comparison of brain maturation among species: an example in translational research suggesting the possible use of bumetanide in newborn. FRONTIERS IN NEUROLOGY , 4 (ARTN 36) 10.3389/fneur.2013.00036.

Pressler, RM; Mangum, B; (2013) Newly emerging therapies for neonatal seizures. SEMINARS IN FETAL & NEONATAL MEDICINE , 18 (4) pp. 216-223. 10.1016/j.siny.2013.04.005.

Probert, R; Saunders, DE; Ganesan, V; (2013) Reversible cerebral vasoconstriction syndrome: rare or underrecognized in children? DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , 55 (4) pp. 385-389. 10.1111/j.1469-8749.2012.04433.x.

Pryde, K; Walker, WT; Hollingsworth, C; Haywood, P; Baird, J; Hussey, M; Freeman, A; ... Faust, SN; + view all (2013) Stroke in paediatric pneumococcal meningitis: a cross-sectional population-based study. ARCHIVES OF DISEASE IN CHILDHOOD , 98 (8) pp. 647-649. 10.1136/archdischild-2013-304243.

Q

Quattrocelli, M; Crippa, S; Montecchiani, C; Camps, J; Cornaglia, AI; Boldrin, L; Morgan, J; ... Sampaolesi, M; + view all (2013) Long-Term miR-669a Therapy Alleviates Chronic Dilated Cardiomyopathy in Dystrophic Mice. JOURNAL OF THE AMERICAN HEART ASSOCIATION , 2 (4) 10.1161/JAHA.113.000284.

Quinlivan, R; Mitsuahashi, S; Sewry, C; Cirak, S; Aoyama, C; Mooore, D; Abbs, S; ... Straub, V; + view all (2013) Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype. NEUROMUSCULAR DISORDERS , 23 (7) pp. 549-556. 10.1016/j.nmd.2013.04.002.

Quinlivan, R; Mitsuahashi, S; Sewry, C; Cirak, S; Aoyama, C; Mooore, D; Abbs, S; ... Straub, V; + view all (2013) Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype. Neuromuscular Disorders , 23 (7) pp. 549-556. 10.1016/j.nmd.2013.04.002.

Quinn, CT; McKinstry, RC; Dowling, MM; Ball, WS; Kraut, MA; Casella, JF; Dlamini, N; ... DeBaun, MR; + view all (2013) Acute Silent Cerebral Ischemic Events in Children With Sickle Cell Anemia. JAMA NEUROLOGY , 70 (1) pp. 58-65. 10.1001/jamaneurol.2013.576.

Quinn, CT; Robert, CM; Dowling, MM; Ball, WS; Kraut, MA; Casella, JF; Dlamini, N; ... DeBaun, MR; + view all (2013) Acute silent cerebral ischemic events in children with sickle cell anemia. Archives of Neurology , 70 (1) pp. 58-65. 10.1001/jamaneurol.2013.576.

R

Randall, JC; Winkler, TW; Kutalik, Z; Berndt, SI; Jackson, AU; Monda, KL; Kilpeläinen, TO; ... Heid, IM; + view all (2013) Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits. PLoS Genetics , 9 (6) , Article e1003500. 10.1371/journal.pgen.1003500. Green open access
file

Ranpura, A; Isaacs, E; Edmonds, C; Rogers, M; Lanigan, J; Singhal, A; Clayden, J; ... Butterworth, B; + view all (2013) Developmental trajectories of grey and white matter in dyscalculia. Trends in Neuroscience and Education , 2 (2) pp. 56-64. 10.1016/j.tine.2013.06.007.

Raval, MV; Hall, NJ; Pierro, A; Moss, RL; (2013) Evidence-based prevention and surgical treatment of necrotizing enterocolitis-A review of randomized controlled trials. SEMINARS IN PEDIATRIC SURGERY , 22 (2) pp. 117-121. 10.1053/j.sempedsurg.2013.01.009.

Ravenscroft, G; Miyatake, S; Lehtokari, V-L; Todd, EJ; Vomauen, P; Yau, KS; Hayashi, YK; ... laing, NG; + view all (2013) Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy. AMERICAN JOURNAL OF HUMAN GENETICS , 93 (1) pp. 6-18. 10.1016/j.ajhg.2013.05.004.

Reza, M; Laval, SH; Counsell, J; Muntoni, F; Morgan, J; Lochmuller, H; (2013) Optimised dystrophin mini-constructs for gene delivery. In: (Proceedings) 18th International Congress of the World-Muscle-Society (WMS). (pp. pp. 838-839). PERGAMON-ELSEVIER SCIENCE LTD

Richard, GR; Titiz, A; Tyler, A; Holmes, GL; Scott, RC; Lenck-Santini, P-P; (2013) Speed Modulation of Hippocampal Theta Frequency Correlates With Spatial Memory Performance. HIPPOCAMPUS , 23 (12) pp. 1269-1279. 10.1002/hipo.22164.

Ricotti, V; Ridout, DA; Mercuri, E; Quinlivan, R; Robb, SA; Manzur, AY; Muntoni, F; (2013) DYSTROPHINOPATHY: FUNCTIONAL EVALUATION AND ORGAN INVOLVMENT. In: (Proceedings) 18th International Congress of the World-Muscle-Society (WMS). (pp. p. 748). PERGAMON-ELSEVIER SCIENCE LTD

Ricotti, V; Ridout, DA; Muntoni, F; (2013) Steroids in Duchenne muscular dystrophy. NEUROMUSCULAR DISORDERS , 23 (8) pp. 696-697. 10.1016/j.nmd.2013.06.373.

Ricotti, V; Ridout, DA; Muntoni, F; (2013) Steroids in Duchenne muscular dystrophy. Neuromuscular Disorders , 23 (8) pp. 696-697. 10.1016/j.nmd.2013.06.373.

Ricotti, V; Ridout, DA; Scott, E; Quinlivan, R; Robb, SA; Manzur, AY; Muntoni, F; (2013) Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 84 (6) pp. 698-705. 10.1136/jnnp-2012-303902.

Ricotti, V; Ridout, DA; Scott, E; Quinlivan, R; Robb, SA; Manzur, AY; Muntoni, F; (2013) Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. Journal of Neurology, Neurosurgery and Psychiatry , 84 (6) pp. 698-705. 10.1136/jnnp-2012-303902.

Ricotti, V; Scoto, M; Mandy, W; Entwistle, K; Robb, A; Pane, M; Mercuri, E; ... Muntoni, F; + view all (2013) Neuropsychiatric comorbidities in Duchenne Muscular Dystrophy. In: (Proceedings) 18th International Congress of the World-Muscle-Society (WMS). (pp. pp. 752-753). PERGAMON-ELSEVIER SCIENCE LTD

Robbins, AA; Fox, SE; Holmes, GL; Scott, RC; Barry, JM; (2013) Short duration waveforms recorded extracellularly from freely moving rats are representative of axonal activity. FRONTIERS IN NEURAL CIRCUITS , 7 (UNSP 181) 10.3389/fncir.2013.00181.

Roberts, TC; Godfrey, C; McClorey, G; Vader, P; Briggs, D; Gardiner, C; Aoki, Y; ... Wood, MJA; + view all (2013) Extracellular microRNAs are dynamic non-vesicular biomarkers of muscle turnover. NUCLEIC ACIDS RESEARCH , 41 (20) pp. 9500-9513. 10.1093/nar/gkt724.

Roebuck, DJ; Smith, G; Pitt, M; Harper, J; Barnacle, AM; (2013) The nerve lesions following sclerotherapy with sodium tetradecylsulfate in children with venous malformations. Journal of radiology , In pre

Rokach, O; Ullrich, ND; Rausch, M; Mouly, V; Zhou, H; Muntoni, F; Zorzato, F; (2013) Establishment of a human skeletal muscle-derived cell line: biochemical, cellular and electrophysiological characterization. BIOCHEMICAL JOURNAL , 455 pp. 169-177. 10.1042/BJ20130698.

Rossor, AM; Oates, EC; Hafezparast, M; Cottenie, E; Houlden, H; Scoto, M; Foley, R;