Browse by UCL Departments and Centres
A
Abdalla, G;
Sanverdi, E;
Machado, PM;
Kwong, JSW;
Panovska-Griffiths, J;
Rojas-Garcia, A;
Yoneoka, D;
... Bisdas, S; + view all
(2018)
Role of diffusional kurtosis imaging in grading of brain gliomas: a protocol for systematic review and meta-analysis.
BMJ Open
, 8
(12)
, Article e025123. 10.1136/bmjopen-2018-025123.
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Agostini, F;
Ule, J;
Zagalak, JA;
(2018)
No way out: when RNA elements promote nuclear retention.
EMBO Journal
, 37
(6)
, Article e99123. 10.15252/embj.201899123.
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Akram, H;
Dayal, V;
Mahlknecht, P;
Georgiev, D;
Hyam, J;
Foltynie, T;
Limousin, P;
... Zrinzo, L; + view all
(2018)
Connectivity derived thalamic segmentation in deep brain stimulation for tremor.
NeuroImage: Clinical
, 18
pp. 130-142.
10.1016/j.nicl.2018.01.008.
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Al-Olabi, L;
Polubothu, S;
Dowsett, K;
Andrews, KA;
Stadnik, P;
Joseph, AP;
Knox, R;
... Kinsler, VA; + view all
(2018)
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
The Journal of Clinical Investigation
, 128
(4)
pp. 1496-1508.
10.1172/JCI98589.
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Alg, VS;
Ke, X;
Grieve, J;
Bonner, S;
Walsh, DC;
Bulters, D;
Kitchen, N;
... Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study, .; + view all
(2018)
Association of functional MMP-2 gene variant with intracranial aneurysms: case-control genetic association study and meta-analysis.
British Journal of Neurosurgery
, 32
(3)
pp. 255-259.
10.1080/02688697.2018.1427213.
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Altamura, C;
Lucchiari, S;
Sahbani, D;
Ulzi, G;
Comi, GP;
D'Ambrosio, P;
Petillo, R;
... Desaphy, J-F; + view all
(2018)
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel.
Human Mutation
, 39
(9)
pp. 1273-1283.
10.1002/humu.23581.
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Amior, N;
(2018)
Developing models to study the mechanisms of weakness and myotonia in Periodic Paralysis.
Doctoral thesis (Ph.D), UCL (University College London).
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Andreassi, C;
Crerar, H;
Riccio, A;
(2018)
Post-transcriptional Processing of mRNA in Neurons: The Vestiges of the RNA World Drive Transcriptome Diversity.
Frontiers in Molecular Neuroscience
, 11
, Article 304. 10.3389/fnmol.2018.00304.
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Attig, J;
Agostini, F;
Gooding, C;
Chakrabarti, AM;
Singh, A;
Haberman, N;
Zagalak, JA;
... Ule, J; + view all
(2018)
Heteromeric RNP Assembly at LINEs Controls Lineage-Specific RNA Processing.
Cell
, 174
(5)
1067-1081.e17.
10.1016/j.cell.2018.07.001.
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B
Balint, B;
Antelmi, E;
Mencacci, NE;
Batla, A;
Eriksson, SH;
Walker, MC;
Bronstein, AM;
(2018)
Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related disease.
Parkinsonism & Related Disorders
10.1016/j.parkreldis.2018.04.011.
(In press).
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Balint, B;
Vincent, A;
Meinck, H-M;
Irani, SR;
Bhatia, KP;
(2018)
Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology.
Brain
, 141
(1)
pp. 13-36.
10.1093/brain/awx189.
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Balint, B;
Wiethoff, S;
Martino, D;
Del Gamba, C;
Latorre, A;
Ganos, C;
Houlden, H;
(2018)
Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics.
Movement Disorders Clinical Practice
, 5
(3)
pp. 317-320.
10.1002/mdc3.12615.
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Bayle, ED;
Igoe, N;
Fish, PV;
(2018)
4‐cyano‐2‐methoxybenzenesulfonyl chloride.
Organic Syntheses
, 94
10.1002/0471264229.os094.15.
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Bennett, CL;
Dastidar, SG;
Ling, S-C;
Malik, B;
Ashe, T;
Wadhwa, M;
Miller, DB;
... La Spada, AR; + view all
(2018)
Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.
Acta Neuropathologica
, 136
(3)
pp. 425-443.
10.1007/s00401-018-1852-9.
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Berens, P;
Freeman, J;
Deneux, T;
Chenkov, N;
McColgan, T;
Speiser, A;
Macke, JH;
... Bethge, M; + view all
(2018)
Community-based benchmarking improves spike rate inference from two-photon calcium imaging data.
PLoS Computational Biology
, 14
(5)
, Article e1006157. 10.1371/journal.pcbi.1006157.
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Bertero, A;
Brown, S;
Madrigal, P;
Osnato, A;
Ortmann, D;
Yiangou, L;
Kadiwala, J;
... Vallier, L; + view all
(2018)
The SMAD2/3 interactome reveals that TGF beta controls m(6)A mRNA methylation in pluripotency.
Nature
, 555
(7695)
pp. 256-259.
10.1038/nature25784.
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Bishop, CA;
Ricotti, V;
Sinclair, CDJ;
Evans, MRB;
Butler, JW;
Morrow, JM;
Hanna, MG;
... Janiczek, RL; + view all
(2018)
Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy.
Frontiers in Neurology
, 9
, Article 9. 10.3389/fneur.2018.00009.
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Blauwendraat, C;
Bras, JM;
Nalls, MA;
Lewis, PA;
Hernandez, DG;
Singleton, AB;
International Parkinson's Disease Genomics Consortium;
(2018)
Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.
Movement Disorders
10.1002/mds.103.
(In press).
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Blauwendraat, C;
Kia, DA;
Pihlstrom, L;
Gan-Or, Z;
Lesage, S;
Gibbs, JR;
Ding, J;
... Wood, NW; + view all
(2018)
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
Neurobiology of Aging
, 64
159.e5-159.e8.
10.1016/j.neurobiolaging.2017.12.012.
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Blauwendraat, C;
Reed, X;
Kia, DA;
Gan-Or, Z;
Lesage, S;
Pihlstrøm, L;
Guerreiro, R;
... COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Ge; + view all
(2018)
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
JAMA Neurology
10.1001/jamaneurol.2018.1885.
(In press).
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Blazquez, L;
Emmett, W;
Faraway, R;
Pineda, JMB;
Bajew, S;
Gohr, A;
Haberman, N;
... Ule, J; + view all
(2018)
Exon Junction Complex Shapes the Transcriptome by Repressing Recursive Splicing.
Molecular Cell
, 72
(3)
496-509.e9.
10.1016/j.molcel.2018.09.033.
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Blomstedt, P;
Stenmark Persson, R;
Hariz, G-M;
Linder, J;
Fredricks, A;
Häggström, B;
Philipsson, J;
... Hariz, M; + view all
(2018)
Deep brain stimulation in the caudal zona incerta versus best medical treatment in patients with Parkinson's disease: a randomised blinded evaluation.
Journal of Neurology, Neurosurgery and Psychiatry
, 89
(7)
pp. 710-716.
10.1136/jnnp-2017-317219.
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Bourinaris, T;
Houlden, H;
(2018)
C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.
Movement Disorders Clinical Practice
, 5
(6)
pp. 575-585.
10.1002/mdc3.12677.
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Bourke, JP;
Bueser, T;
Quinlivan, R;
(2018)
Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X‐linked dilated cardiomyopathy.
Cochrane Database of Systematic Reviews
, 2018
(10)
, Article CD009068. 10.1002/14651858.CD009068.pub3.
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Bratkovič, T;
Modic, M;
Camargo Ortega, G;
Drukker, M;
Rogelj, B;
(2018)
Neuronal differentiation induces SNORD115 expression and is accompanied by post-transcriptional changes of serotonin receptor 2c mRNA.
Scientific Reports
, 8
(1)
, Article 5101. 10.1038/s41598-018-23293-7.
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Brownjohn, PW;
Smith, J;
Solanki, R;
Lohmann, E;
Houlden, H;
Hardy, J;
Dietmann, S;
(2018)
Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia.
Stem Cell Reports
, 10
(4)
pp. 1294-1307.
10.1016/j.stemcr.2018.03.003.
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Brownlee, WJ;
Miszkiel, KA;
Tur, C;
Barkhof, F;
Miller, DH;
Ciccarelli, O;
(2018)
Inclusion of optic nerve involvement in dissemination in space criteria for multiple sclerosis.
Neurology
, 91
(12)
e1130-e1134.
10.1212/WNL.0000000000006207.
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Brownstone, RM;
Chopek, JW;
(2018)
Reticulospinal Systems for Tuning Motor Commands.
Frontiers in Neural Circuits
, 12
, Article 30. 10.3389/fncir.2018.00030.
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Brownstone, RM;
Lancelin, C;
(2018)
Escape from homeostasis: spinal microcircuits and progression of amyotrophic lateral sclerosis.
J Neurophysiol
, 119
(5)
pp. 1782-1794.
10.1152/jn.00331.2017.
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Brunschwig, C;
Lawrence, N;
Taylor, D;
Abay, E;
Njoroge, M;
Basarab, GS;
Le Manach, C;
... Chibale, K; + view all
(2018)
UCT943, a next generation Plasmodium falciparum PI4K inhibitor preclinical candidate for the treatment of malaria.
Antimicrobial Agents and Chemotherapy
, 62
(9)
, Article e00012-18. 10.1128/AAC.00012-18.
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Bugai, A;
Quaresma, AJC;
Friedel, C;
Lenasi, V;
Sibley, C;
Kukanja, P;
Fujinaga, K;
... Barboric, M; + view all
(2018)
P-TEFb activation by RBM7 shapes a pro-survival transcriptional response to genotoxic stress.
bioRxiv: Cold Spring Harbor, NY, USA.
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Bugiardini, E;
Morrow, JM;
Shah, S;
Woods, CL;
Lynch, DS;
Pitmann, AM;
Reilly, MM;
... Yousry, TA; + view all
(2018)
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.
Frontiers in Neurology
, 9
, Article 456. 10.3389/fneur.2018.00456.
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C
Canhão, H;
Rodrigues, AM;
Gregório, MJ;
Dias, SS;
Gomes, JAM;
Santos, MJ;
Faustino, A;
... Silva, JA; + view all
(2018)
Common Evaluations of Disease Activity in Rheumatoid Arthritis Reach Discordant Classifications across Different Populations.
Frontiers in Medicine
, 5
, Article 40. 10.3389/fmed.2018.00040.
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Castellazzi, G;
Debernard, L;
Melzer, TR;
Dalrymple-Alford, JC;
D'Angelo, E;
Miller, DH;
Wheeler-Kingshott, CAM;
(2018)
Functional connectivity alternations reveal complex mechanisms based on clinical and radiological status in mild relapsing remitting multiple sclerosis.
Frontiers in Neurology
, 9
, Article 690. 10.3389/fneur.2018.00690.
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Chakrabarti, A;
Haberman, N;
Praznik, A;
Luscombe, N;
Ule, J;
(2018)
Data Science Issues in Understanding Protein-RNA Interactions.
Annual Review of Biomedical Data Science
, 1
pp. 235-261.
10.1146/annurev-biodatasci-080917-013525.
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Chatzopoulou, M;
Martínez, RF;
Willis, NJ;
Claridge, TDW;
Wilson, FX;
Wynne, GM;
Davies, SG;
(2018)
The Dimroth rearrangement as a probable cause for structural misassignments in imidazo[1,2-a]pyrimidines: A 15N-labelling study and an easy method for the determination of regiochemistry.
Tetrahedron
, 74
(38)
pp. 5280-5288.
10.1016/j.tet.2018.06.033.
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Chelban, V;
Vichayanrat, E;
Schottlaende, L;
Iodice, V;
Houlden, H;
(2018)
Autonomic Dysfunction in Genetic Forms of Synucleinopathies.
Movement Disorders
, 33
(3)
pp. 359-371.
10.1002/mds.27343.
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Chelban, V;
Wiethoff, S;
Fabian-Jessing, BK;
Haridy, NA;
Khan, A;
Efthymiou, S;
Becker, EBE;
... Houlden, H; + view all
(2018)
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Movement Disorders
, 33
(7)
pp. 1119-1129.
10.1002/mds.27334.
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Chen, J-C;
Macerollo, A;
Sadnicka, A;
Lu, M-K;
Tsai, C-H;
Korlipara, P;
Bhatia, K;
... Edwards, MJ; + view all
(2018)
Cervical dystonia: Normal auditory mismatch negativity and abnormal somatosensory mismatch negativity.
Clinical Neurophysiology
, 129
(9)
pp. 1947-1954.
10.1016/j.clinph.2018.05.028.
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Chopek, JW;
Nascimento, F;
Beato, M;
Brownstone, RM;
Zhang, Y;
(2018)
Sub-populations of Spinal V3 Interneurons Form Focal Modules of Layered Pre-motor Microcircuits.
Cell Reports
, 25
(1)
146-156.e3.
10.1016/j.celrep.2018.08.095.
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Choudry, TN;
Hilton-Jones, D;
Lennox, G;
Houlden, H;
(2018)
Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy.
Practical Neurology
, 18
(1)
pp. 52-56.
10.1136/practneurol-2017-001711.
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Clark, AJ;
Menendez, G;
AlQatari, M;
Patel, N;
Arstad, E;
Schiavo, G;
Koltzenburg, M;
(2018)
Functional imaging in microfluidic chambers reveal sensory neuron sensitivity is differentially regulated between neuronal regions.
PAIN
, 159
(7)
pp. 1413-1425.
10.1097/j.pain.0000000000001145.
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Clark, CN;
Golden, HL;
McCallion, O;
Nicholas, JM;
Cohen, MH;
Slattery, CF;
Paterson, RW;
... Warren, JD; + view all
(2018)
Music models aberrant rule decoding and reward valuation in dementia.
Social Cognitive and Affective Neuroscience
, 13
(2)
pp. 192-202.
10.1093/scan/nsx140.
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Coenen-Stass, AML;
Magen, I;
Brooks, T;
Ben-Dov, IZ;
Greensmith, L;
Hornstein, E;
Fratta, P;
(2018)
Evaluation of Methodologies for Microrna Biomarker Detection by Next Generation Sequencing.
RNA Biology
, 15
(8)
pp. 1133-1145.
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Coleman, J;
Jouannot, O;
Ramakrishnan, SK;
Zanetti, MN;
Wang, J;
Salpietro, V;
Houlden, H;
... Krishnakumar, SS; + view all
(2018)
PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.
Cell Reports
, 22
(3)
pp. 820-831.
10.1016/j.celrep.2017.12.056.
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Conlon, EG;
Fagegaltier, D;
Agius, P;
Davis-Porada, J;
Gregory, J;
Hubbard, I;
Kang, K;
... Manley, JL; + view all
(2018)
Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism.
eLife
, 7
, Article e37754. 10.7554/eLife.37754.
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Counsell, JR;
Karda, R;
Diaz, JA;
Carey, L;
Wiktorowicz, T;
Buckley, SMK;
Ameri, S;
... Howe, SJ; + view all
(2018)
Foamy Virus Vectors Transduce Visceral Organs and Hippocampal Structures following In Vivo Delivery to Neonatal Mice.
Molecular Therapy - Nucleic Acids
, 12
pp. 626-634.
10.1016/j.omtn.2018.07.006.
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Covill-Cooke, C;
Howden, JH;
Birsa, N;
Kittler, JT;
(2018)
Ubiquitination at the mitochondria in neuronal health and disease.
Neurochemistry International
, 117
pp. 55-64.
10.1016/j.neuint.2017.07.003.
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Crerar, Hamish;
(2018)
The axonal transcript Tp53inp2 mediates the development of the sympathetic nervous system.
Doctoral thesis (Ph.D), UCL (University College London).
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Cristante, E;
Liyanage, SE;
Sampson, RD;
Kalargyrou, A;
De Rossi, G;
Rizzi, M;
Hoke, J;
... Bainbridge, JWB; + view all
(2018)
Late neuroprogenitors contribute to normal retinal vascular development in aHif2a-dependent manner.
Development
, 145
(8)
, Article dev157511. 10.1242/dev.157511.
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D
D'Esposito, A;
Sweeney, P;
Ali, M;
Saleh, M;
Ramasawmy, R;
Roberts, T;
Agliardi, G;
... Walker-Samuel, S; + view all
(2018)
Computational fluid dynamics with imaging of cleared tissue and of in vivo perfusion predicts drug uptake and treatment responses in tumours.
Nature Biomedical Engineering
, 2
pp. 773-787.
10.1038/s41551-018-0306-y.
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da Cruz, L;
Fynes, K;
Georgiadis, O;
Kerby, J;
Luo, YH;
Ahmado, A;
Vernon, A;
... Coffey, PJ; + view all
(2018)
Phase 1 clinical study of an embryonic stem cell-derived retinal pigment epithelium patch in age-related macular degeneration.
Nature Biotechnology
, 36
(4)
pp. 328-337.
10.1038/nbt.4114.
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Dayal, V;
Grover, T;
Limousin, P;
Akram, H;
Cappon, D;
Candelario, J;
Salazar, M;
... Foltynie, T; + view all
(2018)
The Effect of Short Pulse Width Settings on the Therapeutic Window in Subthalamic Nucleus Deep Brain Stimulation for Parkinson's disease.
Journal of Parkinson's Disease
, 8
(2)
pp. 273-279.
10.3233/JPD-171272.
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Desikan, M;
Scalco, RS;
Manole, A;
Gardiner, A;
schapira, A;
Lachmann, R;
Houlden, H;
... Quinlivan, R; + view all
(2018)
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).
Neuromuscular Disorders
, 28
(4)
pp. 346-349.
10.1016/j.nmd.2018.01.002.
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Dipoppa, M;
Ranson, A;
Krumin, M;
Pachitariu, M;
Carandini, M;
Harris, KD;
(2018)
Vision and Locomotion Shape the Interactions between Neuron Types in Mouse Visual Cortex.
Neuron
, 98
(3)
602-615.e8.
10.1016/j.neuron.2018.03.037.
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Do, DV;
Strauss, B;
Cukuroglu, E;
Macaulay, I;
Wee, KB;
Hu, TX;
Igor, RDLM;
... Surani, MA; + view all
(2018)
SRSF3 maintains transcriptome integrity in oocytes by regulation of alternative splicing and transposable elements.
Cell Discovery
, 4
, Article 33. 10.1038/s41421-018-0032-3.
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Durigon, R;
Mitchell, AL;
Jones, AW;
Manole, A;
Mennuni, M;
Hirst, EM;
Houlden, H;
... Spinazzola, A; + view all
(2018)
LETM1 couples mitochondrial DNA metabolism and nutrient preference.
EMBO Molecular Medicine
, 10
(7)
10.15252/emmm.201708550.
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E
Efthymiou, S;
Salpietro, V;
Bettencourt, C;
Houlden, H;
(2018)
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A.
Journal of Pediatric Genetics
, 7
(3)
pp. 114-116.
10.1055/s-0038-1651526.
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Elmore, MRP;
Hohsfield, LA;
Kramar, EA;
Soreq, L;
Lee, RJ;
Pham, ST;
Najafi, AR;
... Green, KN; + view all
(2018)
Replacement of microglia in the aged brain reverses cognitive, synaptic, and neuronal deficits in mice.
Aging Cell
, 17
(6)
, Article e12832. 10.1111/acel.12832.
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Enge, TG;
Ecroyd, H;
Jolley, DF;
Yerbury, JJ;
Kalmar, B;
Dosseto, A;
(2018)
Assessment of metal concentrations in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis and its potential role in muscular denervation, with particular focus on muscle tissue.
Molecular and Cellular Neuroscience
, 88
pp. 319-329.
10.1016/j.mcn.2018.03.001.
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F
Failor, SW;
Ng, A;
Cheng, H-J;
(2018)
Monocular enucleation alters retinal waves in the surviving eye.
Neural Development
, 13
(1)
, Article 4. 10.1186/s13064-018-0101-1.
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Farmery, JHR;
Smith, ML;
Lynch, AG;
Huissoon, A;
Furnell, A;
Mead, A;
Levine, AP;
... Tan, Y; + view all
(2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018).
Scientific Reports
, 8
, Article 13376. 10.1038/s41598-018-31524-0.
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Farmery, JHR;
Smith, ML;
NIHR BioResource - Rare Diseases, .;
Lynch, AG;
Mead, A;
Levine, AP;
Manzur, A;
... Huissoon, A; + view all
(2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
Scientific Reports
, 8
, Article 1300. 10.1038/s41598-017-14403-y.
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Faulkner, M;
Hannan, S;
Aristovich, K;
Avery, J;
Holder, D;
(2018)
Feasibility of imaging evoked activity throughout the rat brain using electrical impedance tomography.
Neuroimage
, 178
pp. 1-10.
10.1016/j.neuroimage.2018.05.022.
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Faulkner, M;
Hannan, S;
Aristovich, KY;
Avery, J;
Holder, DS;
(2018)
Characterising the frequency response of impedance changes during evoked physiological activity in the rat brain.
Physiological Measurement
, 39
(3)
, Article 034007. 10.1088/1361-6579/aab01f.
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Faundez, V;
De Toma, I;
Bardoni, B;
Bartesaghi, R;
Nizetic, D;
de la Torre, R;
Cohen Kadosh, R;
... Strydom, A; + view all
(2018)
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RCT of Bumetanide in Hypokalaemic Periodic Paralysis (HypoPP) using abductor digiti minimi compound muscle action potential (CMAP) as an objective outcome measure.
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EPR2165: RCT assessing 2mg bumetanide as a therapeutic agent for a focal attack of weakness in Hypokalaemic Periodic Paralysis (HypoPP).
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Scalco, RS;
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Scalco, RS;
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(8)
pp. 2457-2474.
10.1093/brain/awy159.
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Wissel, BD; Dwivedi, AK; Merola, A; Chin, D; Jacob, C; Duker, AP; Vaughan, JE; ... Espay, AJ; + view all |