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Number of items: 70.
A
Aguilà, M;
Bevilacqua, D;
McCulley, C;
Schwarz, N;
Athanasiou, D;
Kanuga, N;
Novoselov, SS;
... Cheetham, ME; + view all
(2014)
Hsp90 inhibition protects against inherited retinal degeneration.
Hum Mol Genet
, 23
(8)
pp. 2164-2175.
10.1093/hmg/ddt613.
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Asi, YT;
Simpson, JE;
Heath, PR;
Wharton, SB;
Lees, AJ;
Revesz, T;
Houlden, H;
(2014)
Alpha-synuclein mRNA expression in oligodendrocytes in MSA.
Glia
, 62
(6)
pp. 964-970.
10.1002/glia.22653.
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Aviles-Olmos, I;
Kefalopoulou, Z;
Tripoliti, E;
Candelario, J;
Akram, H;
Martinez-Torres, I;
Jahanshahi, M;
... Limousin, P; + view all
(2014)
Long-term outcome of subthalamic nucleus deep brain stimulation for Parkinson's disease using an MRI-guided and MRI-verified approach.
J Neurol Neurosurg Psychiatry
, 85
(12)
1419 - 1425.
10.1136/jnnp-2013-306907.
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B
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Baple, EL;
Maroofian, R;
Chioza, BA;
Izadi, M;
Cross, HE;
Al-Turki, S;
Barwick, K;
... Crosby, AH; + view all
(2014)
Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures.
The American Journal of Human Genetics
, 94
(1)
pp. 87-94.
10.1016/j.ajhg.2013.10.001.
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Bercsenyi, K;
Schmieg, N;
Bryson, JB;
Wallace, M;
Caccin, P;
Golding, M;
Zanotti, G;
... Schiavo, G; + view all
(2014)
Tetanus toxin entry. Nidogens are therapeutic targets for the prevention of tetanus.
Science
, 346
(6213)
1118 - 1123.
10.1126/science.1258138.
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Birsa, N;
Norkett, R;
Wauer, T;
Mevissen, TE;
Wu, HC;
Foltynie, T;
Bhatia, K;
... Kittler, JT; + view all
(2014)
Lysine 27 Ubiquitination of the Mitochondrial Transport Protein Miro Is Dependent on Serine 65 of the Parkin Ubiquitin Ligase.
J Biol Chem
, 289
(21)
pp. 14569-14582.
10.1074/jbc.M114.563031.
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Bodini, B;
Cercignani, M;
Toosy, A;
Stefano, ND;
Miller, DH;
Thompson, AJ;
Ciccarelli, O;
(2014)
A novel approach with "skeletonised MTR" measures tract-specific microstructural changes in early primary-progressive MS.
Human Brain Mapping
, 35
(2)
pp. 723-733.
10.1002/hbm.22196.
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Brady, S;
Squier, W;
Sewry, C;
Hanna, M;
Hilton-Jones, D;
Holton, JL;
(2014)
A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis.
BMJ Open
, 4
(4)
, Article e004552. 10.1136/bmjopen-2013-004552.
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Bryson, JB;
Machado, CB;
Crossley, M;
Stevenson, D;
Bros-Facer, V;
Burrone, J;
Greensmith, L;
(2014)
Optical control of muscle function by transplantation of stem cell-derived motor neurons in mice.
Science
, 344
(6179)
94 - 97.
10.1126/science.1248523.
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Bushby, K;
Finkel, R;
Wong, B;
Barohn, R;
Campbell, C;
Comi, GP;
Connolly, AM;
... McDonald, CM; + view all
(2014)
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Muscle and Nerve
, 50
(4)
pp. 477-487.
10.1002/mus.24332.
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C
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Cagnan, H;
Little, S;
Foltynie, T;
Limousin, P;
Zrinzo, L;
Hariz, M;
Cheeran, B;
... Brown, P; + view all
(2014)
The nature of tremor circuits in parkinsonian and essential tremor.
BRAIN
, 137
(12)
pp. 3223-3234.
10.1093/brain/awu250.
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Cereda, M;
Pozzoli, U;
Rot, G;
Juvan, P;
Schweitzer, A;
Clark, T;
Ule, J;
(2014)
RNAmotifs: prediction of multivalent RNA motifs that control alternative splicing.
Genome Biol
, 15
(1)
, Article R20. 10.1186/gb-2014-15-1-r20.
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Chataway, J;
Schuerer, N;
Alsanousi, A;
Chan, D;
MacManus, D;
Hunter, K;
Anderson, V;
... Nicholas, R; + view all
(2014)
Effect of high-dose simvastatin on brain atrophy and disability in secondary progressive multiple sclerosis (MS-STAT): a randomised, placebo-controlled, phase 2 trial.
Lancet
, 383
(9936)
pp. 2213-2221.
10.1016/S0140-6736(13)62242-4.
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Cortese, A;
Plagnol, V;
Brady, S;
Simone, R;
Lashley, T;
Acevedo-Arozena, A;
de Silva, R;
... Fratta, P; + view all
(2014)
Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy.
Neurobiology of Aging
, 35
(6)
pp. 1491-1498.
10.1016/j.neurobiolaging.2013.12.029.
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Cottenie, E;
Kochanski, A;
Jordanova, A;
Bansagi, B;
Zimon, M;
Horga, A;
Jaunmuktane, Z;
... Houlden, H; + view all
(2014)
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Am J Hum Genet
, 95
(5)
590 - 601.
10.1016/j.ajhg.2014.10.002.
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D
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Dihanich, S;
Civiero, L;
Manzoni, C;
Mamais, A;
Bandopadhyay, R;
Greggio, E;
Lewis, PA;
(2014)
GTP binding controls complex formation by the human ROCO protein MASL1.
FEBS J
, 281
(1)
pp. 261-274.
10.1111/febs.12593.
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F
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Foley, AR;
Pitceathly, RD;
He, J;
Kim, J;
Pearson, NM;
Muntoni, F;
Hanna, MG;
(2014)
Whole-genome sequencing and the clinician: a tale of two cities.
J Neurol Neurosurg Psychiatry
10.1136/jnnp-2013-306264.
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Fratta, P;
(2014)
Investigation of pathogenic mechanisms underlying motor neuron diseases.
Doctoral thesis , UCL (University College London).
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Fratta, P;
Collins, T;
Devoy, A;
Fisher, EMC;
Nethisinghe, S;
Giunti, P;
Hanna, MG;
... Sweeney, MG; + view all
(2014)
Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.
Neurobiology of Aging
, 35
(2)
443.e1-443.e3.
10.1016/j.neurobiolaging.2013.07.015.
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Fratta, P;
Nirmalananthan, N;
Masset, L;
Skorupinska, I;
Collins, T;
Cortese, A;
Pemble, S;
... Hanna, MG; + view all
(2014)
Correlation of clinical and molecular features in spinal bulbar muscular atrophy.
Neurology
, 82
(23)
pp. 2077-2084.
10.1212/WNL.0000000000000507.
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G
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Gang, Q;
Bettencourt, C;
Machado, P;
Hanna, MG;
Houlden, H;
(2014)
Sporadic inclusion body myositis: the genetic contributions to the pathogenesis.
Orphanet J Rare Dis
, 9
, Article 88. 10.1186/1750-1172-9-88.
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H
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Haefeli, J;
Freund, P;
Kramer, JLK;
Blum, J;
Curt, A;
Luechinger, R;
(2014)
Differences in cortical coding of heat evoked pain beyond the perceived intensity: An fMRI and EEG study.
Human Brain Mapping
, 35
(4)
1379 - 1389.
10.1002/hbm.22260.
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Henley, SMD;
Downey, LE;
Nicholas, JM;
Kinnunen, KM;
Golden, HL;
Buckley, A;
Mahoney, CJ;
(2014)
Degradation of cognitive timing mechanisms in behavioural variant frontotemporal dementia.
Neuropsychologia
, 65
(Decemb)
10.1016/j.neuropsychologia.2014.10.009.
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Horga, A;
Pitceathly, RD;
Blake, JC;
Woodward, CE;
Zapater, P;
Fratter, C;
Mudanohwo, EE;
... Reilly, MM; + view all
(2014)
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.
Brain
, 137
(Pt 12)
3200 - 3212.
10.1093/brain/awu279.
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Huppertz, I;
Attig, J;
D'Ambrogio, A;
Eastonb, L;
Sibley, CR;
Sugimoto, Y;
Tajnik, M;
... Ule, J; + view all
(2014)
iCLIP: Protein-RNA interactions at nucleotide resolution.
Methods
, 65
(3)
pp. 274-287.
10.1016/j.ymeth.2013.10.011.
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J
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Jahanshahi, M;
Torkamani, M;
Beigi, M;
Wilkinson, L;
Page, D;
Madeley, L;
Bhatia, K;
... Tisch, S; + view all
(2014)
Pallidal stimulation for primary generalised dystonia: effect on cognition, mood and quality of life.
J Neurol
, 261
(1)
pp. 164-173.
10.1007/s00415-013-7161-2.
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K
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Kadir, SN;
Goodman, DF;
Harris, KD;
(2014)
High-dimensional cluster analysis with the masked EM algorithm.
Neural Comput
, 26
(11)
2379 - 2394.
10.1162/NECO_a_00661.
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Kahan, J;
Urner, M;
Moran, R;
Flandin, G;
Marreiros, A;
Mancini, L;
White, M;
... Foltynie, T; + view all
(2014)
Resting state functional MRI in Parkinson's disease: the impact of deep brain stimulation on 'effective' connectivity.
Brain
, 137
(4)
pp. 1130-1144.
10.1093/brain/awu027.
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Kearney, H;
Rocca, M;
Valsasina, P;
Balk, L;
Sastre-Garriga, J;
Reinhardt, J;
Ruggieri, S;
... Chard, D; + view all
(2014)
Magnetic resonance imaging correlates of physical disability in relapse onset multiple sclerosis of long disease duration.
Mult Scler
, 20
(1)
pp. 72-80.
10.1177/1352458513492245.
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Kessaris, N;
Magno, L;
Rubin, AN;
Oliveira, MG;
(2014)
Genetic programs controlling cortical interneuron fate.
Curr Opin Neurobiol
, 26C
79 - 87.
10.1016/j.conb.2013.12.012.
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L
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Le Mouel, C;
Harris, KD;
Yger, P;
(2014)
Supervised learning with decision margins in pools of spiking neurons.
J Comput Neurosci
, 37
(2)
pp. 333-344.
10.1007/s10827-014-0505-9.
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Ling, H;
Kara, E;
Revesz, T;
Lees, AJ;
Plant, GT;
Martino, D;
Houlden, H;
... Holton, JL; + view all
(2014)
Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer.
Acta Neuropathol Commun
, 2
(1)
, Article 24. 10.1186/2051-5960-2-24.
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Llorente-Garcia, I;
Lenn, T;
Erhardt, H;
Harriman, OL;
Liu, L-N;
Robson, A;
Chiu, S-W;
... Leake, MC; + view all
(2014)
Single-molecule in vivo imaging of bacterial respiratory complexes indicates delocalized oxidative phosphorylation.
Biochimica et Biophysica Acta (BBA) - Bioenergetics
, 1837
(6)
pp. 811-824.
10.1016/j.bbabio.2014.01.020.
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M
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Ma, D;
Cardoso, MJ;
Modat, M;
Powell, N;
Wells, J;
Holmes, H;
Wiseman, F;
... Ourselin, S; + view all
(2014)
Automatic structural parcellation of mouse brain MRI using multi-atlas label fusion.
PLoS One
, 9
(1)
, Article e86576. 10.1371/journal.pone.0086576.
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Machado, PM;
Ahmed, M;
Brady, S;
Gang, Q;
Healy, E;
Morrow, JM;
Wallace, AC;
... Hanna, MG; + view all
(2014)
Ongoing developments in sporadic inclusion body myositis.
Curr Rheumatol Rep
, 16
(12)
, Article 477. 10.1007/s11926-014-0477-9.
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Mallik, S;
Samson, RS;
Wheeler-Kingshott, CA;
Miller, DH;
(2014)
Imaging outcomes for trials of remyelination in multiple sclerosis.
J Neurol Neurosurg Psychiatry
, 85
(12)
1396 - 1404.
10.1136/jnnp-2014-307650.
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Mamais, A;
Chia, R;
Beilina, A;
Hauser, DN;
Hall, C;
Lewis, PA;
Cookson, MR;
(2014)
Arsenite Stress Downregulates Phosphorylation and 14-3-3 Binding of Leucine-rich Repeat Kinase 2 (LRRK2) Promoting Self-Association and Cellular Redistribution.
J Biol Chem
, 289
(31)
pp. 21386-21400.
10.1074/jbc.M113.528463.
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Martins, M;
McCarthy, A;
Baxendale, R;
Guichard, S;
Magno, L;
Kessaris, N;
El-Bahrawy, M;
... Katan, M; + view all
(2014)
Tumor suppressor role of phospholipase C epsilon in Ras-triggered cancers.
Proceedings of the National Academy of Sciences
, 111
(11)
4239 - 4244.
10.1073/pnas.1311500111.
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Matthews, EL;
(2014)
The skeletal muscle channelopathies: phenotype, genotype and pathogenesis.
Doctoral thesis , UCL (University College London).
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Mencacci, NE;
Isaias, IU;
Reich, MM;
Ganos, C;
Plagnol, V;
Polke, JM;
Bras, J;
... on behalf of the International Parkinson’s Disease Genomics Cons; + view all
(2014)
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Brain
, 137
(9)
pp. 2480-2492.
10.1093/brain/awu179.
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Mizielinska, S;
Grönke, S;
Niccoli, T;
Ridler, CE;
Clayton, EL;
Devoy, A;
Moens, T;
... Isaacs, AM; + view all
(2014)
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.
Science
10.1126/science.1256800.
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Mok, KY;
Schneider, SA;
Trabzuni, D;
Stamelou, M;
Edwards, M;
Kasperaviciute, D;
Pickering-Brown, S;
... Bhatia, KP; + view all
(2014)
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.
Mov Disord
, 29
(2)
pp. 245-251.
10.1002/mds.25732.
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Montague, K;
Malik, B;
Gray, AL;
La Spada, AR;
Hanna, MG;
Szabadkai, G;
Greensmith, L;
(2014)
Endoplasmic reticulum stress in spinal and bulbar muscular atrophy: a potential target for therapy.
Brain
, 137
(7)
pp. 1894-1906.
10.1093/brain/awu114.
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Morrow, JM;
Sinclair, CD;
Fischmann, A;
Reilly, MM;
Hanna, MG;
Yousry, TA;
Thornton, JS;
(2014)
Reproducibility, and age, body-weight and gender dependency of candidate skeletal muscle MRI outcome measures in healthy volunteers.
European Radiology
, 24
(7)
pp. 1610-1620.
10.1007/s00330-014-3145-6.
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Moss, DJH;
Poulter, M;
Beck, J;
Hehir, J;
Polke, JM;
Campbell, T;
Adamson, G;
... Tabrizi, SJ; + view all
(2014)
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.
Neurology
, 82
(4)
pp. 292-299.
10.1212/WNL.0000000000000061.
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Muhlert, N;
Atzori, M;
De Vita, E;
Thomas, DL;
Samson, RS;
Wheeler-Kingshott, CA;
Geurts, JJ;
... Ciccarelli, O; + view all
(2014)
Memory in multiple sclerosis is linked to glutamate concentration in grey matter regions.
Journal of Neurology, Neurosurgery and Psychiatry
, 85
(8)
pp. 833-839.
10.1136/jnnp-2013-306662.
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N
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Nuttin, B;
Wu, H;
Mayberg, H;
Hariz, M;
Gabriëls, L;
Galert, T;
Merkel, R;
... Schlaepfer, T; + view all
(2014)
Consensus on guidelines for stereotactic neurosurgery for psychiatric disorders.
Journal of Neurology, Neurosurgery & Psychiatry
, 85
(9)
pp. 1003-1008.
10.1136/jnnp-2013-306580.
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P
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Parfitt, DA;
Aguila, M;
McCulley, CH;
Bevilacqua, D;
Mendes, HF;
Athanasiou, D;
Novoselov, SS;
... Cheetham, ME; + view all
(2014)
The heat-shock response co-inducer arimoclomol protects against retinal degeneration in rhodopsin retinitis pigmentosa.
Cell Death Dis
, 5
, Article e1236. 10.1038/cddis.2014.214.
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Parkinson, MH;
Patel, R;
Davagnanam, I;
Wood, NW;
Giunti, P;
(2014)
When the penny drops.
Pract Neurol
, 14
(6)
409 - 414.
10.1136/practneurol-2014-000859.
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Paterson, RW;
Schott, JM;
Zandi, MS;
Armstrong, R;
Vincent, A;
(2014)
Clinical relevance of positive voltage-gated potassium channel (VGKC)-complex antibodies: Experience from a tertiary referral centre.
Journal of Neurology, Neurosurgery and Psychiatry
, 85
(6)
625 - 630.
10.1136/jnnp-2013-305218.
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Paudel, R;
Kiely, A;
Li, A;
Lashley, T;
Bandopadhyay, R;
Hardy, J;
Jinnah, HA;
... Holton, JL; + view all
(2014)
Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions.
Acta Neuropathol Commun
, 2
(1)
, Article 159. 10.1186/s40478-014-0159-x.
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Pitceathly, RDS;
(2014)
Clinical and Molecular Genetic Studies in Mitochondrial Disease.
Doctoral thesis , UCL (University College London).
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Proukakis, C;
Shoaee, M;
Morris, J;
Brier, T;
Kara, E;
Sheerin, UM;
Charlesworth, G;
... Schapira, AH; + view all
(2014)
Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.
Mov Disord
, 29
(8)
060-1064.
10.1002/mds.25883.
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R
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Ricketts, T;
McGoldrick, P;
Fratta, P;
de Oliveira, HM;
Kent, R;
Phatak, V;
Brandner, S;
... Fisher, EM; + view all
(2014)
A nonsense mutation in mouse tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects.
PLoS One
, 9
(1)
, Article e85962. 10.1371/journal.pone.0085962.
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Ryan, NS;
Shakespeare, TJ;
Lehmann, M;
Keihaninejad, S;
Nicholas, JM;
Leung, KK;
Fox, NC;
(2014)
Motor features in posterior cortical atrophy and their imaging correlates.
Neurobiology of Aging
, 35
(12)
10.1016/j.neurobiolaging.2014.05.028.
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S
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Sadnicka, A;
Patani, B;
Saifee, TA;
Kassavetis, P;
Pareés, I;
Korlipara, P;
Bhatia, KP;
... Edwards, MJ; + view all
(2014)
Normal motor adaptation in cervical dystonia: a fundamental cerebellar computation is intact.
Cerebellum
, 13
(5)
558 - 567.
10.1007/s12311-014-0569-0.
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Sheerin, UM;
Schneider, SA;
Carr, L;
Deuschl, G;
Hopfner, F;
Stamelou, M;
Wood, NW;
(2014)
ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia.
Neurology
, 82
(12)
pp. 1065-1067.
10.1212/WNL.0000000000000254.
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Smethurst, P;
(2014)
Prion-like mechanisms of TDP-43 in ALS.
Doctoral thesis , University College London.
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Stamelou, M;
Charlesworth, G;
Cordivari, C;
Schneider, SA;
Kägi, G;
Sheerin, UM;
Rubio-Agusti, I;
... Bhatia, KP; + view all
(2014)
The phenotypic spectrum of DYT24 due to ANO3 mutations.
Mov Disord
, 29
(7)
pp. 928-934.
10.1002/mds.25802.
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T
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Tan, SV;
Z'graggen, WJ;
Boërio, D;
Rayan, DR;
Norwood, F;
Ruddy, D;
Howard, R;
... Bostock, H; + view all
(2014)
Chloride channels in myotonia congenita assessed by velocity recovery cycles.
Muscle & Nerve
, 49
(6)
pp. 845-857.
10.1002/mus.24069.
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Terenzio, M;
Golding, M;
Russell, MRG;
Wicher, KB;
Rosewell, I;
Spencer-Dene, B;
Ish-Horowicz, D;
(2014)
Bicaudal‐D1 regulates the intracellular sorting and signalling of neurotrophin receptors.
EMBO Journal
, 33
(14)
pp. 1582-1598.
10.15252/embj.201387579.
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Terenzio, M;
Golding, M;
Schiavo, G;
(2014)
siRNA screen of ES cell-derived motor neurons identifies novel regulators of tetanus toxin and neurotrophin receptor trafficking.
FRONTIERS IN CELLULAR NEUROSCIENCE
, 8
, Article ARTN 140. 10.3389/fnce1.2014.00140.
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Thomas, AC;
Williams, H;
Seto-Salvia, N;
Bacchelli, C;
Jenkins, D;
O'Sullivan, M;
Mengrelis, K;
... Stanier, PM; + view all
(2014)
Mutations in SNX14 cause a distinctive autosomal recessive cerebellar ataxia and intellectual disability syndrome.
The American Journal of Human Genetics
, 95
(5)
pp. 611-621.
10.1016/j.ajhg.2014.10.007.
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Toosy, AT;
Mason, DF;
Miller, DH;
(2014)
Optic neuritis.
The Lancet Neurology
, 13
(1)
pp. 83-99.
10.1016/S1474-4422(13)70259-X.
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Tsika, E;
Glauser, L;
Moser, R;
Fiser, A;
Daniel, G;
Sheerin, UM;
Lees, A;
... Moore, DJ; + view all
(2014)
Parkinson's Disease-Linked Mutations in VPS35 Induce Dopaminergic Neurodegeneration.
Hum Mol Genet
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