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Number of items: 182.

A

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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Alshaikh, NM; Martinez, JP; Pitt, MC; (2016) Perception of pain during electromyography in children: A prospective study. Muscle Nerve , 54 (3) pp. 422-426. 10.1002/mus.25069.

Alshaikh, NM; Martinez, JP; Pitt, MC; (2016) Reply. Muscle Nerve , 54 (4) 812-. 10.1002/mus.25165.

Amin, S; Lux, A; Calder, N; Laugharne, M; Osborne, J; O'Callaghan, F; (2016) CAUSES OF MORTALITY IN INDIVIDUALS WITH TUBEROUS SCLEROSIS COMPLEX (TSC). Presented at: Annual Meeting of the Association-of-British-Neurologists (ABN), Brighton, ENGLAND.

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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Argyropoulos, GP; (2016) The cerebellum, internal models and prediction in 'non-motor' aspects of language: A critical review. Brain and Language , 161 pp. 4-17. 10.1016/j.bandl.2015.08.003. Green open access
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Austin, PJ; Tsitsiou, E; Boardman, C; Jones, SW; Lindsay, MA; Adcock, IM; Chung, KF; (2016) Transcriptional profiling identifies the long noncoding RNA plasmacytoma variant translocation (PVT1) as a novel regulator of the asthmatic phenotype in human airway smooth muscle. Journal of Allergy and Clinical Immunology , 139 (3) pp. 780-789. 10.1016/j.jaci.2016.06.014. Green open access
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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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B

Bakalis, S; (2016) Prediction Of Small-For-Gestational-Age Neonates At 30-34 Weeks' Gestation. Doctoral thesis , UCL (University College London). 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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Barban, N; Jansen, R; de Vlaming, R; Vaez, A; Mandemakers, JJ; Tropf, FC; Shen, X; ... Mills, MC; + view all (2016) Genome-wide analysis identifies 12 loci influencing human reproductive behavior. Nature Genetics , 48 (12) pp. 1462-1472. 10.1038/ng.3698. 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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Batla, A; Tai, XY; Schottlaender, L; Erro, R; Balint, B; Bhatia, KP; (2016) Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes. Parkinsonism & Related Disorders , 37 pp. 1-10. 10.1016/j.parkreldis.2016.12.024. 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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Benedetti, S; Hoshiya, H; Uno, N; Ferrari, G; Kazuki, Y; Maffioletti, S; Casteels, T; ... Tedesco, FS; + view all (2016) Reversible immortalisation, human artificial chromosomes, and induced pluripotency: new gene and cell therapy technologies for Duchenne muscular dystrophy. Presented at: Spring Meeting on Clinician Scientists in Training, Royal Coll Phys, London, ENGLAND.

Berry, DJ; Dutton, J; Fraser, WD; Järvelin, MR; Hyppönen, E; (2016) Harmonization Study Between LC-MS/MS and Diasorin RIA for Measurement of 25-Hydroxyvitamin D Concentrations in a Large Population Survey. Journal of Clinical Laboratory Analysis 10.1002/jcla.22049. (In press). Green open access
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Bluebond-Langner, M; Hargrave, D; Henderson, EM; Langner, R; (2016) 'I have to live with the decisions I make': laying a foundation for decision making for children with life-limiting conditions and life-threatening illnesses. Archives of Disease in Childhood 10.1136/archdischild-2015-310345. (In press). 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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Brennan, L; Gavlak, J; Saunders, D; Kirkham, F; Kawadler, J; (2016) Magnetic resonance imaging measurements of the upper airway in sickle cell disease patients compared with age-matched healthy controls and association with sleep-disordered breathing. Presented at: 23rd Congress of the European-Sleep-Research-Society, Bologna, ITALY.

Bushby, K; Kirschner, J; Lu, X; Elfring, G; Kroger, H; Riebling, P; Ong, T; ... Muntoni, F; + view all (2016) Results of North Star Ambulatory Assessments (NSAA) in the Phase 3 Ataluren Confirmatory Trial in Patients with Nonsense Mutation Duchenne Muscular Dystrophy (ACT DMD). Presented at: 68th Annual Meeting of the American-Academy-of-Neurology (AAN), Vancouver, CANADA.

C

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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Charalambous, T; Tur, C; Clayden, JD; Prados, F; van Pavert, SHP; Chard, D; Miller, DH; ... Toosy, AT; + view all (2016) Changes in diffusion-based structural brain network in relapsing-remitting multiple sclerosis. Presented at: 32nd Congress of the European-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ECTRIMS), London, ENGLAND.

Chaudhary, UJ; Centeno, M; Thornton, RC; Rodionov, R; Vulliemoz, S; McEvoy, AW; Diehl, B; ... Lemieux, L; + view all (2016) Mapping human preictal and ictal haemodynamic networks using simultaneous intracranial EEG-fMRI. NeuroImage: Clinical , 11 pp. 486-493. 10.1016/j.nicl.2016.03.010. Green open access
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Cipolotti, L; Healy, C; Spano, B; Lecce, F; Biondo, F; Robinson, G; Chan, E; ... Bozzali, M; + view all (2016) Strategy and suppression impairments after right lateral prefrontal and orbito-frontal lesions. Brain , 139 (2) , Article e10. 10.1093/brain/awv269. 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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D

Darekar, A; Schreglmann, M; Joy, H; Gawne-Cain, M; Kirkham, F; Vollmer, B; (2016) Susceptibility-Weighted Magnetic Resonance Imaging (SWI) in Newborns with Hypoxic-Ischemic Encephalopathy. Presented at: UNSPECIFIED.

Day, E; Jones, L; Langner, R; Bluebond-Langner, M; (2016) Current understanding of decision-making in adolescents with cancer: A narrative systematic review. Palliative Medicine , 30 (10) pp. 920-934. 10.1177/0269216316648072. 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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Dlamini, N; Poublanc, J; Kirkham, F; Dirks, P; Logan, W; G, D; (2016) Cortical Thickness and Cerebrovascular Reactivity: Potential Biomarkers of Hypoperfusion Injury in Moyamoya. Presented at: 141st Annual Meeting of the American-Neurological-Association, Baltimore, MD.

Dlamini, N; deVeber, G; Armstrong, D; Kirkham, F; Logan, W; (2016) Predicting Ischemic Risk using Blood Oxygen Level Dependent (BOLD) MRI in Children with Steno-occlusive Arteriopathy. Presented at: 141st Annual Meeting of the American-Neurological-Association, Baltimore, MD.

Domingos, J; Eagle, M; Moraux, A; Butler, J; Decostre, V; Ridout, D; Mayhew, A; ... Muntoni, F; + view all (2016) Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials. Presented at: 21st International Congress of the World-Muscle-Society, Granada, SPAIN.

Domingos, J; Manzur, A; Ridout, D; Muntoni, F; (2016) The natural history of the North Star Ambulatory Assessment (NSAA) in patients with Duchenne muscular dystrophy with shippable mutations. Presented at: 21st International Congress of the World-Muscle-Society, Granada, SPAIN.

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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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).

de Haan, M; Johnson, MH; (2016) Human functional brain. In: Cicchetti, D, (ed.) Developmental Psychopathology 3rd edition. (pp. 197-213). Wiley: New Jersey.

E

Estilow, T; Glanzman, AM; Burns, J; Cornett, KMD; Menezes, MP; Shy, R; Moroni, I; ... Yum, SW; + view all (2016) IMPACT OF VISUAL INPUT ON BALANCE IN CHILDREN WITH CHARCOT-MARIE-TOOTH DISEASE. Presented at: Inflammatory Neuropathy Consortium and GBS 100 Centenary Symposium and Ceilidh, Univ Glasgow, Glasgow, SCOTLAND.

Estilow, T; Glanzman, AM; Burns, J; Cornett, KMD; Menezes, MP; Shy, R; Moroni, I; ... Yum, SW; + view all (2016) BALANCE IMPAIRMENT IN PEDIATRIC CHARCOT-MARIE-TOOTH-DISEASE. Presented at: Inflammatory Neuropathy Consortium and GBS 100 Centenary Symposium and Ceilidh, Univ Glasgow, Glasgow, SCOTLAND.

Estilow, T; Glanzman, AM; Burns, J; Cornett, KMD; Menezes, MP; Shy, R; Moroni, I; ... Yum, SW; + view all (2016) IMPACT OF FOOT ALIGNMENT IN PEDIATRIC CHARCOT-MARIE-TOOTH DISEASE. Presented at: Inflammatory Neuropathy Consortium and GBS 100 Centenary Symposium and Ceilidh, Univ Glasgow, Glasgow, SCOTLAND.

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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F

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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Ferrari, G; Hoshiya, H; Ragazzi, M; Casteels, T; Maffioletti, SM; Kazuki, Y; Muntoni, F; ... Tedesco, FS; + view all (2016) iPS cells and human artificial chromosomes: towards a genomic integration-free therapy for Duchenne muscular dystrophy. Presented at: Conference on Changing the Face of Modern Medicine - Stem Cells and Gene Therapy, Florence, ITALY.

Fiorillo, C; Astrea, G; Savarese, M; Cassandrini, D; Brisca, G; Trucco, F; Pedemonte, M; ... Italian Network on Congenital Myopathies, .; + view all (2016) MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Orphanet Journal of Rare Diseases , 11 , Article 91. 10.1186/s13023-016-0476-1. Green open access
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Flynn, MJ; Zammarchi, F; Tyrer, PC; Akarca, AU; Janghra, N; Britten, CE; Havenith, CEG; ... Hartley, JA; + view all (2016) ADCT-301, a Pyrrolobenzodiazepine (PBD) Dimer-Containing Antibody-Drug Conjugate (ADC) Targeting CD25-Expressing Hematological Malignancies. Molecular Cancer Therapeutics , 15 (11) pp. 2709-2721. 10.1158/1535-7163.MCT-16-0233. Green open access
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G

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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Green, RL; Simoes, FA; Reyes-Aldasoro, CC; Rossor, AM; Scoto, M; Barri, M; Greensmith, L; ... Hafezparast, M; + view all (2016) A DYNC1H1 MUTATION IN AUTOSOMAL DOMINANT SPINAL MUSCULAR ATROPHY SHOWS THE POTENTIAL OF PHARMACOLOGICAL INHIBITION OF HISTONE DEACETYLASE 6 AS A TREATMENT FOR DISEASE ASSOCIATED CELLULAR PHENOTYPES. Presented at: Inflammatory Neuropathy Consortium and GBS 100 Centenary Symposium and Ceilidh, Univ Glasgow, Glasgow, SCOTLAND.

H

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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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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Horikoshi, M; Beaumont, RN; Day, FR; Warrington, NM; Kooijman, MN; Fernandez-Tajes, J; Feenstra, B; ... Freathy, RM; + view all (2016) Genome-wide associations for birth weight and correlations with adult disease. Nature , 538 (7624) pp. 248-252. 10.1038/nature19806. Green open access
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Hughes, W; Kirkham, F; Sparrow, O; Shtaya, A; (2016) G121(P) Spontaneous haemorrhagic stroke and cerebral arteriovenous malformations and aneurysms in children. Presented at: UNSPECIFIED.

I

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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J

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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K

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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Kara, E; Tucci, A; Manzoni, C; Lynch, DS; Elpidorou, M; Bettencourt, C; Chelban, V; ... Houlden, H; + view all (2016) Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain , 139 (7) pp. 1904-1918. 10.1093/brain/aww111. Green open access
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Karda, R; Counsell, JR; Vink, CA; Perocheau, DP; Buckley, SMK; Ng, J; Waddington, SN; (2016) Transduction of the Central Nervous System with the LTR1 Lentiviral Backbone. Presented at: 19th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Washington, DC.

Karda, R; Perocheau, DP; Buckley, SMK; Delhove, JMKM; Hughes, M; Rahim, A; Johnson, MR; ... Waddington, SN; + view all (2016) Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors. Presented at: Annual Conference of the British-Society-for-Gene-and-Cell-Therapy, Univ Coll London, Inst Child Hlth, London, ENGLAND.

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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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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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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Kirkham, F; Vigevano, F; Wilken, B; Raspall-Chaure, M; Grebla, R; Roskell, N; Werner-Kiechle, T; (2016) G97 Seizure duration with and without rescue medication in a European survey of children who experience prolonged acute convulsive seizures. Presented at: UNSPECIFIED.

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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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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Loperfido, M; Jarmin, S; Dastidar, S; Di Matteo, M; Perini, I; Moore, M; Nair, N; ... Chuah, MK; + view all (2016) Transposons Expressing Full-Length Human Dystrophin Enable Genetic Correction of Dystrophic Mesoangioblasts and iPS-Derived Mesoangioblast-Like Cells. Presented at: 19th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Washington, DC.

Lopez, R; Byrne, S; Vukcevic, M; Sekulic-Jablanovic, M; Xu, L; Brink, M; Alamelu, J; ... Jungbluth, H; + view all (2016) A novel bleeding disorder associated with RYR1 mutations. Presented at: 21st International Congress of the World-Muscle-Society, Granada, SPAIN.

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.

Marks, S; Nery, F; Cutajar, M; Clark, C; Thomas, D; Gordon, I; (2016) Renal blood flow measurements by magnetic resonance imaging using arterial spin labelling as a novel non-invasive biomarker in paediatric renal transplant recipients. Presented at: UNSPECIFIED.

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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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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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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McLachlan, S; Giambartolomei, C; White, J; Charoen, P; Wong, A; Finan, C; Engmann, J; ... UCLEB Consortium, ; + view all (2016) Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans. PLoS One , 11 (6) , Article e0156914. 10.1371/journal.pone.0156914. 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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Mencacci, NE; Kamsteeg, EJ; R'Bibo, L; Lynch, D; Balint, B; Willemsen, M; Adams, M; ... Bhatia, K; + view all (2016) De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions. Presented at: 20th International Congress of Parkinson's Disease and Movement Disorders, Berlin, GERMANY.

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; Baranelle, G; D'amico, A; Pera, M; ... Pane, M; + view all (2016) Revised North Star ambulatory assessment for young boys with Duchenne muscular dystrophy. Presented at: 21st International Congress of the World-Muscle-Society, Granada, SPAIN.

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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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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Mowlem, FD; Skirrow, C; Reid, P; Maltezos, S; Nijjar, SK; Merwood, A; Barker, E; ... Asherson, P; + view all (2016) Validation of the Mind Excessively Wandering Scale and the Relationship of Mind Wandering to Impairment in Adult ADHD. J Atten Disord 10.1177/1087054716651927. (In press). Green open access
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Munot, P; Silwal, A; Sud, R; Manzur, A; Hanna, MG; Muntoni, F; Matthews, E; (2016) IMPROVING EARLY DIAGNOSIS IN CHILDREN WITH SKELETAL MUSCLE CHANNELOPATHIES. Presented at: Annual Meeting of the Muscle-Study-Group on Models of Neuromuscular Disease scross the Lifespan, Snowbird, UT.

Muntoni, F; (2016) CLINICAL TRIALS IN DUCHENNE MUSCULAR DYSTROPHY: WHERE ARE WE IN 2016? Presented at: Annual Meeting of the Muscle-Study-Group on Models of Neuromuscular Disease scross the Lifespan, Snowbird, UT.

Muntoni, F; Luo, X; Elfring, G; Kroger, H; Riebling, P; Ong, T; Spiegel, R; ... McDonald, C; + view all (2016) Results of North Star ambulatory assessments in the phase 3 ataluren confirmatory trial in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD). Presented at: 21st International Congress of the World-Muscle-Society, Granada, SPAIN.

Muntoni, F; Luo, X; Elfring, G; Kroger, H; Riebling, P; Ong, T; Spiegel, R; ... McDonald, C; + view all (2016) Results of North Star Ambulatory Assessments in the Phase 3 Ataluren Confirmatory Trial in Patients with Nonsense Mutation Duchenne Muscular Dystrophy (ACT DMD). Presented at: 141st Annual Meeting of the American-Neurological-Association, Baltimore, MD.

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Neri, M; Scotton, C; Gualandi, F; Wirth, B; Schols, L; Klockgether, T; Lochmuller, H; ... Ferlini, A; + view all (2016) Genetic landscapes in neuromuscular disorders: The influence of next-generation sequencing analysis. Presented at: 21st International Congress of the World-Muscle-Society, Granada, SPAIN.

Ng, J; Zhen, J; Erreger, K; Oien, NC; Mohammed, S; Linn, JP; Muntadas, J; ... Kurian, MA; + view all (2016) Novel mutations identified in dopamine transporter deficiency syndrome. Presented at: 20th International Congress of Parkinson's Disease and Movement Disorders, Berlin, GERMANY.

Ng, J; Zhen, J; Karda, R; Barral, S; Meyer, E; Suff, N; Massaro, G; ... Kurian, M; + view all (2016) Novel therapeutic approaches for childhood parkinsonism. Presented at: Annual Conference of the British-Society-for-Gene-and-Cell-Therapy, Univ Coll London, Inst Child Hlth, London, ENGLAND.

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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O'Leary, L; Sevinç, K; Papazoglou, IM; Tildy, B; Detillieux, K; Halayko, AJ; Chung, KF; (2016) Airway Smooth Muscle Inflammation Is Regulated by MicroRNA-145 in COPD. FEBS Letters , 590 (9) pp. 1324-1334. 10.1002/1873-3468.12168. 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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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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Patel, A; Gosk, M; Pitt, M; (2016) The effect of different low-frequency filters on concentric needle jitter in stimulated orbicularis oculi. Muscle Nerve , 54 (2) pp. 317-319. 10.1002/mus.25178.

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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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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Ramsey, D; Scoto, M; Mayhew, A; Main, M; Mazzone, E; Montes, J; Dunaway, S; ... Muntoni, F; + view all (2016) Revised Hammersmith scale for spinal muscular atrophy: Longitudinal changes over six and twelve months in a large international cohort. Presented at: 21st International Congress of the World-Muscle-Society, Granada, SPAIN.

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; (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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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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Sailer, A; Scholz, SW; Nalls, MA; Schulte, C; Federoff, M; Price, TR; Lees, A; ... European Multiple System Atrophy Study Group and the UK Multiple, ; + view all (2016) A genome-wide association study in multiple system atrophy. Neurology , 87 (15) pp. 1591-1598. 10.1212/WNL.0000000000003221. 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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Sardone, V; Ellis, M; Torelli, S; Feng, L; Chambers, D; Phadke, R; Sewry, C; ... Muntoni, F; + view all (2016) Optimizing dystrophin quantification in DMD and BMD patients: A new semi-automated acquisition and analysis method. Presented at: 21st International Congress of the World-Muscle-Society, Granada, SPAIN.

Scerif, F; (2016) Identification of gene networks in childhood epilepsy: evidence from focal cortical dysplasia. Doctoral thesis , UCL (University College London).

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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Schmidt, AF; Hingorani, AD; Jefferis, BJ; White, J; Groenwold, RH; Dudbridge, F; UCLEB Consortium, ; (2016) Comparison of variance estimators for meta-analysis of instrumental variable estimates. International Journal of Epidemiology 10.1093/ije/dyw123. (In press). Green open access
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Schottlaender, LV; Bettencourt, C; Kiely, AP; Chalasani, A; Neergheen, V; Holton, JL; Hargreaves, I; (2016) Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients. PLoS One , 11 (2) , Article e0149557. 10.1371/journal.pone.0149557. Green open access
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Scoto, M; Zhou, H; Thompson, D; Howell, K; Hong, Y; Imbrigiotta, N; Parson, S; ... Muntoni, F; + view all (2016) Exploring the microvascular abnormalities in a cohort of paediatric patients with spinal muscular atrophy. Presented at: 21st International Congress of the World-Muscle-Society, Granada, SPAIN.

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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Seferian, A; Gargaun, E; Grelet, M; Gasnier, E; Lilien, C; Gillabert, S; Duchene, D; ... Servais, L; + view all (2016) Longitudinal results of magneto-inertial motion analysis in Duchenne muscular dystrophy ambulant patients. Presented at: 21st International Congress of the World-Muscle-Society, Granada, SPAIN.

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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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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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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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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Torelli, S; Sarkozy, A; Mein, R; Yau, M; Hammans, S; Radunovic, A; Henderson, M; ... Barresi, R; + view all (2016) Mobility shift of beta-dystroglycan combined with reduced laminin alpha2 expression is a marker of genetic defects in the GMPPB gene. Presented at: 21st International Congress of the World-Muscle-Society, Granada, SPAIN.

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; Altmann, DR; Prados, F; Charalambous, T; Clayden, JD; ... Toosy, AT; + view all (2016) Structural cortical networks in optic neuritis (early CIS). Presented at: 32nd Congress of the European-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ECTRIMS), London, United Kingdom.

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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Tur, C; Eshaghi, A; Khaleeli, Z; Altmann, DR; Prados, F; Charalambous, T; Clayden, JD; ... Ciccarelli, O; + view all (2016) Longitudinal changes in structural cortical networks in early PPMS. Presented at: 32nd Congress of the European-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ECTRIMS), London, United Kingdom.

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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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 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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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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Wein, N; Simmons, TR; Gumienny, F; Yurkoski, J; Huang, N; Muntoni, F; Flanigan, KM; (2016) A Single Neonatal Delivery of an Exon 2 Directed AAV9.U7snRNA Vector Results in Long-Term Dystrophin Expression That Prevents Pathologic Features in the Dup2 Mouse. Presented at: 19th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Washington, DC.

Welby, E; Di Foggia, V; Lakowski, J; Budinger, D; Kruczek, K; Hubank, M; Gamm, DM; ... Sowden, JC; + view all (2016) Isolating and characterising human cone photoreceptors for cell therapy. Presented at: Conference on Changing the Face of Modern Medicine - Stem Cells and Gene Therapy, Florence, ITALY.

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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White, J; Sofat, R; Hemani, G; Shah, T; (2016) Plasma urate concentration and risk of coronary heart disease: a Mendelian randomisation analysis. The Lancet Diabetes and Endocrinology , 4 (4) pp. 327-336. 10.1016/S2213-8587(15)00386-1. Green open access
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Yan, J; van der Hoorn, A; Boonzaier, NR; Larkin, TJ; Matys, T; Price, SJ; (2016) CHARACTERIZATION AND IDENTIFICATION OF GLIOBLASTOMA PROGRESSION ON PREOPERATIVE MULTIMODAL MRI. Presented at: 12th Meeting of the European-Association-of-Neuro-Oncology, GERMANY.

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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This list was generated on Sun Mar 24 06:54:18 2019 GMT.