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Number of items: 139.
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.
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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.
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Apps, JR;
Hutchinson, JC;
Arthurs, OJ;
Virasami, A;
Joshi, A;
Zeller-Plumhoff, B;
Moulding, D;
... Martinez-Barbera, JP; + view all
(2016)
Imaging Invasion: Micro-CT imaging of adamantinomatous craniopharyngioma highlights cell type specific spatial relationships of tissue invasion.
Acta Neuropathol Commun
, 4
(1)
, Article 57. 10.1186/s40478-016-0321-8.
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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).
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B
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Bakalis, S;
(2016)
Prediction Of Small-For-Gestational-Age Neonates At 30-34 Weeks' Gestation.
Doctoral thesis (PhD), UCL (University College London).
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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.
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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.
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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.
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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.
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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.
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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.
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Beniczky, S;
Neufeld, M;
Diehl, B;
Dobesberger, J;
Trinka, E;
Mameniskiene, R;
Rheims, S;
... Ryvlin, P; + view all
(2016)
Testing patients during seizures: A European consensus procedure developed by a joint taskforce of the ILAE - Commission on European Affairs and the European Epilepsy Monitoring Unit Association.
Epilepsia
, 57
(9)
pp. 1363-1368.
10.1111/epi.13472.
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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.
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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.
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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).
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Brown, APY;
(2016)
Intrinsic and Visually-Evoked Properties of Layer 2/3 Neurons in Mouse Primary Visual Cortex and Their Dependence on Sensory Experience.
Doctoral thesis , UCL (University College London).
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C
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Catapano, F;
Zaharieva, I;
Scoto, M;
Marrosu, E;
Morgan, J;
Muntoni, F;
Zhou, H;
(2016)
Altered Levels of MicroRNA-9,-206, and-132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy.
Molecular Therapy-Nucleic Acids
, 5
, Article e331. 10.1038/mtna.2016.47.
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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.
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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.
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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.
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Chari, A;
Hocking, KC;
Edlmann, E;
Turner, C;
Santarius, T;
Hutchinson, PJ;
Kolias, AG;
(2016)
Core Outcomes and Common Data Elements in Chronic Subdural Hematoma: A Systematic Review of the Literature Focusing on Baseline and Peri-Operative Care Data Elements.
Journal of Neurotrauma
, 33
(17)
pp. 1569-1575.
10.1089/neu.2015.4248.
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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.
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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.
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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.
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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.
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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.
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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.
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D
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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.
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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.
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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.
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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.
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Dowling, MM;
Kirkham, FJ;
(2016)
Stroke in sickle cell anaemia is more than stenosis and thrombosis: the role of anaemia and hyperemia in ischaemia.
[Editorial comment].
British Journal of Haematology
10.1111/bjh.14422.
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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).
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E
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Eve, M;
O'Keeffe, F;
Jhuty, S;
Ganesan, V;
Brown, G;
Murphy, T;
(2016)
Computerized Working-Memory Training for Children Following Arterial Ischemic Stroke: A Pilot Study With Long-Term Follow-Up.
Applied Neuropsychology: Child
, 5
(4)
pp. 273-282.
10.1080/21622965.2015.1055563.
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F
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Fabrizi, L;
Verriotis, M;
Williams, G;
Lee, A;
Meek, J;
Olhede, S;
Fitzgerald, M;
(2016)
Encoding of mechanical nociception differs in the adult and infant brain.
Scientific Reports
, 6
, Article 28642. 10.1038/srep28642.
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G
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Gaillard, M-C;
Puppo, F;
Roche, S;
Dion, C;
Campana, ES;
Mariot, V;
Chaix, C;
... Bartoli, M; + view all
(2016)
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
BMC Medical Genetics
, 17
(1)
, Article 66. 10.1186/s12881-016-0328-9.
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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.
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Gibbard, CR;
(2016)
Structural connectivity of the brain in autism spectrum disorder.
Doctoral thesis , UCL (University College London).
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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.
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H
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Haack, TB;
Ignatius, E;
Calvo-Garrido, J;
Iuso, A;
Isohanni, P;
Maffezzini, C;
Lönnqvist, T;
... Klopstock, T; + view all
(2016)
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia and Gaze Palsy.
American Journal of Human Genetics
, 99
(3)
pp. 735-743.
10.1016/j.ajhg.2016.06.026.
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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.
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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.
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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.
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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.
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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.
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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.
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Hood, A;
Rutlin, J;
Shimony, JS;
Grange, DK;
White, DA;
(2016)
Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria.
JIMD Reports
, 33
pp. 41-47.
10.1007/8904_2016_579.
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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.
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I
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Ingram, G;
Barwick, KE;
Hartley, L;
McEntagart, M;
Crosby, AH;
Llewelyn, G;
Morris, HR;
(2016)
Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis.
Practical Neurology
, 16
(3)
pp. 247-251.
10.1136/practneurol-2015-001307.
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J
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Janackova, S;
Boyd, S;
Yozawitz, E;
Tsuchida, T;
Lamblin, M-D;
Gueden, S;
Pressler, R;
(2016)
Electroencephalographic characteristics of epileptic seizures in preterm neonates.
Clinical Neurophysiology
, 127
(8)
pp. 2721-2727.
10.1016/j.clinph.2016.05.006.
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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.
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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.
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K
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Kalra, S;
Montanaro, F;
Denning, C;
(2016)
Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies?
Journal of Neuromuscular Diseases
, 3
(3)
pp. 309-332.
10.3233/JND-150133.
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Kawadler, JM;
Clayden, JD;
Clark, CA;
Kirkham, FJ;
(2016)
Intelligence quotient in paediatric sickle cell disease: a systematic review and meta-analysis.
Developmental Medicine & Child Neurology
, 58
(7)
pp. 672-679.
10.1111/dmcn.13113.
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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.
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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.
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Koffarnus, MN;
Johnson, MW;
Thompson-Lake, DGY;
Wesley, MJ;
Lohrenz, T;
Montague, PR;
Bickel, WK;
(2016)
Cocaine-Dependent Adults and Recreational Cocaine Users Are More Likely Than Controls to Choose Immediate Unsafe Sex Over Delayed Safer Sex.
Experimental And Clinical Psychopharmacology
, 24
(4)
pp. 297-304.
10.1037/pha0000080.
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Kurian, MA;
Dale, RC;
(2016)
Movement Disorders Presenting in Childhood.
CONTINUUM: Lifelong Learning in Neurology
, 22
(4)
pp. 1159-1185.
10.1212/CON.0000000000000367.
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L
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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.
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Le Moing, A-G;
Seferian, AM;
Moraux, A;
Annoussamy, M;
Dorveaux, E;
Gasnier, E;
Hogrel, J-Y;
... Servais, L; + view all
(2016)
A Movement Monitor Based on MagnetoInertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment.
PLoS One
, 11
(6)
, Article e0156696. 10.1371/journal.pone.0156696.
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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.
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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.
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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.
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LoMauro, A;
Aliverti, A;
Mastella, C;
Arnoldi, MT;
Banfi, P;
Baranello, G;
(2016)
Spontaneous Breathing Pattern as Respiratory Functional Outcome in Children with Spinal Muscular Atrophy (SMA).
PLoS One
, 11
(11)
, Article e0165818. 10.1371/journal.pone.0165818.
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Lopez, RJ;
Byrne, S;
Vukcevic, M;
Sekulic-Jablanovic, M;
Xu, L;
Brink, M;
Alamelu, J;
... Jungbluth, H; + view all
(2016)
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.
Science Signaling
, 9
(435)
, Article ra68. 10.1126/scisignal.aad9813.
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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.
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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.
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M
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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.
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Massey, AT;
Lerner, DK;
Holmes, GL;
Scott, RC;
Hernan, AE;
(2016)
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