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Number of items: 78.
A
Ahmed, MM;
Dhanasekaran, AR;
Tong, S;
Wiseman, FK;
Fisher, EM;
Tybulewicz, VL;
Gardiner, KJ;
(2013)
Protein profiles in Tc1 mice implicate novel pathway perturbations in the Down syndrome brain.
Human Molecular Genetics
, 22
(9)
1709 -1724.
10.1093/hmg/ddt017.
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Alg, VS;
Sofat, R;
Houlden, H;
Werring, DJ;
(2013)
Genetic risk factors for intracranial aneurysms: a meta-analysis in more than 116,000 individuals.
Neurology
, 80
(23)
2154 - 2165.
10.1212/WNL.0b013e318295d751.
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Anantha, RW;
Alcivar, AL;
Ma, J;
Cai, H;
Simhadri, S;
Ule, J;
Konig, J;
(2013)
Requirement of Heterogeneous Nuclear Ribonucleoprotein C for BRCA Gene Expression and Homologous Recombination.
PLoS One
, 8
(4)
, Article e61368. 10.1371/journal.pone.0061368.
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Angeli, A;
Mencacci, NE;
Duran, R;
Aviles-Olmos, I;
Kefalopoulou, Z;
Candelario, J;
Rusbridge, S;
... Foltynie, T; + view all
(2013)
Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation.
Movement Disorders
, 28
(10)
pp. 1370-1375.
10.1002/mds.25535.
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Anstee, QM;
Knapp, S;
Maguire, EP;
Hosie, AM;
Thomas, P;
Mortensen, M;
Bhome, R;
... Thomas, HC; + view all
(2013)
Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition.
NATURE COMMUNICATIONS
, 4
(ARTN 281)
10.1038/ncomms3816.
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B
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Bartolome, F;
Wu, HC;
Burchell, VS;
Preza, E;
Wray, S;
Mahoney, CJ;
Fox, NC;
... Plun-Favreau, H; + view all
(2013)
Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels.
Neuron
, 78
(1)
57 - 64.
10.1016/j.neuron.2013.02.028.
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Batla, A;
Stamelou, M;
Mencacci, N;
Schapira, AH;
Bhatia, KP;
(2013)
Ropinirole monotherapy induced severe reversible dyskinesias in Parkinson's disease.
Mov Disord
, 28
(8)
1159 - 1160.
10.1002/mds.25318.
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Burchell, VS;
Nelson, DE;
Sanchez-Martinez, A;
Delgado-Camprubi, M;
Ivatt, RM;
Pogson, JH;
Randle, SJ;
... Plun-Favreau, H; + view all
(2013)
The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy.
Nature Neuroscience
, 16
(9)
pp. 1257-1265.
10.1038/nn.3489.
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Burge, JA;
Hanna, MG;
Schorge, S;
(2013)
Nongenomic actions of progesterone and 17β-estradiol on the chloride conductance of skeletal muscle.
Muscle & nerve
, 48
(4)
589 - 591.
10.1002/mus.23887.
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C
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Cagnan, H;
Brittain, JS;
Little, S;
Foltynie, T;
Limousin, P;
Zrinzo, L;
Hariz, M;
... Brown, P; + view all
(2013)
Phase dependent modulation of tremor amplitude in essential tremor through thalamic stimulation.
Brain
, 136
(10)
pp. 3062-3075.
10.1093/brain/awt239.
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Chittka, A;
(2013)
Differential Regulation of SC1/PRDM4 and PRMT5 mediated protein arginine methylation by the Nerve Growth Factor and the Epidermal Growth Factor in PC12 cells.
Neuroscience Letters
, 550
87- 92.
10.1016/j.neulet.2013.06.051.
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Ciccarelli, O;
Thomas, DL;
DeVita, E;
Wheeler-Kingshott, CAM;
Kachramanoglou, C;
Kapoor, R;
Leary, S;
... Thompson, AJ; + view all
(2013)
Low Myo‐inositol indicating astrocytic damage in a case series of neuromyelitis optica.
Annals of Neurology
, 74
(2)
pp. 301-305.
10.1002/ana.23909.
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Creeke, PI;
Farrell, RA;
(2013)
Clinical testing for neutralizing antibodies to interferon-β in multiple sclerosis.
Ther Adv Neurol Disord
, 6
(1)
3 - 17.
10.1177/1756285612469264.
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D
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Doherty, KM;
Davagnanam, I;
Molloy, S;
Silveira-Moriyama, L;
Lees, AJ;
(2013)
Pisa syndrome in Parkinson's disease: a mobile or fixed deformity?
Journal of Neurology, Neurosurgery & Psychiatry
, 84
(12)
1400 -1403.
10.1136/jnnp-2012-304700.
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Duran, R;
Mencacci, NE;
Angeli, AV;
Shoai, M;
Deas, E;
Houlden, H;
Mehta, A;
... Foltynie, T; + view all
(2013)
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
Movement Disorders
, 28
(2)
232 - 236.
10.1002/mds.25248.
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F
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Ferdinandusse, S;
Waterham, HR;
Heales, SJ;
Brown, GK;
Hargreaves, IP;
Taanman, JW;
Gunny, R;
... Rahman, S; + view all
(2013)
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Orphanet J Rare Dis
, 8
(1)
, Article 188. 10.1186/1750-1172-8-188.
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Foley, AR;
Menezes, MP;
Pandraud, A;
Gonzalez, MA;
Al-Odaib, A;
Abrams, AJ;
Sugano, K;
... Houlden, H; + view all
(2013)
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Brain
, 137
(1)
, Article awt315. 10.1093/brain/awt315.
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Fratta, P;
Charnock, J;
Collins, T;
Devoy, A;
Howard, R;
Malaspina, A;
Orrell, R;
... Fisher, EM; + view all
(2013)
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
, 85
pp. 506-508.
10.1136/jnnp-2013-306761.
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Fratta, P;
Hanna, MG;
Fisher, EM;
Sidle, K;
(2013)
An unusual presentation for SOD1-ALS: Isolated facial diplegia.
Muscle Nerve
, 48
(6)
pp. 994-995.
10.1002/mus.23958.
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Fratta, P;
Malik, B;
Gray, A;
La Spada, AR;
Hanna, MG;
Fisher, EM;
Greensmith, L;
(2013)
FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion.
Neurobiology of Aging
, 34
(5)
1516.e17 - 1516.e19.
10.1016/j.neurobiolaging.2012.09.008.
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Fratta, P;
Poulter, M;
Lashley, T;
Rohrer, JD;
Polke, JM;
Beck, J;
Ryan, N;
... Mead, S; + view all
(2013)
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.
Acta Neuropathologica
, 126
(3)
pp. 401-409.
10.1007/s00401-013-1147-0.
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Freund, P;
Curt, A;
Friston, K;
Thompson, A;
(2013)
Tracking changes following spinal cord injury: insights from neuroimaging.
Neuroscientist
, 19
(2)
116 - 128.
10.1177/1073858412449192.
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Freund, P;
Weiskopf, N;
Ashburner, J;
Wolf, K;
Sutter, R;
Altmann, DR;
Friston, K;
... Curt, A; + view all
(2013)
MRI investigation of the sensorimotor cortex and the corticospinal tract after acute spinal cord injury: a prospective longitudinal study.
Lancet Neurology
, 12
(9)
pp. 873-881.
10.1016/S1474-4422(13)70146-7.
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G
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Gnanapavan, S;
Grant, D;
Morant, S;
Furby, J;
Hayton, T;
Teunissen, CE;
Leoni, V;
... Giovannoni, G; + view all
(2013)
Biomarker Report from the Phase II Lamotrigine Trial in Secondary Progressive MS - Neurofilament as a Surrogate of Disease Progression.
PLoS One
, 8
(8)
, Article e70019. 10.1371/journal.pone.0070019.
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Gribble, SM;
Wiseman, FK;
Clayton, S;
Prigmore, E;
Langley, E;
Yang, F;
Maguire, S;
... Carter, NP; + view all
(2013)
Massively Parallel Sequencing Reveals the Complex Structure of an Irradiated Human Chromosome on a Mouse Background in the Tc1 Model of Down Syndrome.
PLOS ONE
, 8
(4)
, Article e60482. 10.1371/journal.pone.0060482.
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H
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Haas, MA;
Bell, D;
Slender, A;
Lana-Elola, E;
Watson-Scales, S;
Fisher, EMC;
Tybulewicz, VLJ;
(2013)
Alterations to Dendritic Spine Morphology, but Not Dendrite Patterning, of Cortical Projection Neurons in Tc1 and Ts1Rhr Mouse Models of Down Syndrome.
Plos One
, 8
(10)
, Article e78561. 10.1371/journal.pone.0078561.
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Horga, A;
Raja Rayan, DL;
Matthews, E;
Sud, R;
Fialho, D;
Durran, SC;
Burge, JA;
... Hanna, MG; + view all
(2013)
Prevalence study of genetically defined skeletal muscle channelopathies in England.
Neurology
, 80
(16)
1472 - 1475.
10.1212/WNL.0b013e31828cf8d0.
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K
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Kara, E;
Hardy, J;
Houlden, H;
(2013)
The pallidopyramidal syndromes: Nosology, aetiology and pathogenesis.
Current Opinion in Neurology
, 26
(4)
381 - 394.
10.1097/WCO.0b013e3283632e83.
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Kara, E;
Lewis, PA;
Ling, H;
Proukakis, C;
Houlden, H;
Hardy, J;
(2013)
α-Synuclein mutations cluster around a putative protein loop.
Neurosci Lett
, 546
67 - 70.
10.1016/j.neulet.2013.04.058.
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Kiely, AP;
Asi, YT;
Kara, E;
Limousin, P;
Ling, H;
Lewis, P;
Proukakis, C;
... Holton, JL; + view all
(2013)
α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?
Acta Neuropathologica
, 125
(5)
753 - 769.
10.1007/s00401-013-1096-7.
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Klebe, S;
Golmard, JL;
Nalls, MA;
Saad, M;
Singleton, AB;
Bras, JM;
Hardy, J;
... Wood, NW; + view all
(2013)
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.
Journal of Neurology, Neurosurgery and Psychiatry
, 84
(6)
666 - 673.
10.1136/jnnp-2012-304475.
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Kruer, MC;
Jepperson, T;
Dutta, S;
Steiner, RD;
Cottenie, E;
Sanford, L;
Merkens, M;
... Houlden, H; + view all
(2013)
Mutations in gamma adducin are associated with inherited cerebral palsy.
Ann Neurol
, 74
(6)
pp. 805-814.
10.1002/ana.23971.
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L
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Lee, YB;
Chen, HJ;
Peres, JN;
Gomez-Deza, J;
Attig, J;
Stalekar, M;
Troakes, C;
... Shaw, CE; + view all
(2013)
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic.
Cell Reports
, 5
(5)
pp. 1178-1186.
10.1016/j.celrep.2013.10.049.
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Li, A;
Paudel, R;
Johnson, R;
Courtney, R;
Lees, AJ;
Holton, JL;
Hardy, J;
... Houlden, H; + view all
(2013)
Pantothenate kinase-associated neurodegeneration is not a synucleinopathy.
Neuropathology and Applied Neurobiology
, 39
(2)
pp. 121-131.
10.1111/j.1365-2990.2012.01269.x.
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Liang, Y;
Gordon, E;
Rohrer, J;
Downey, L;
de Silva, R;
Jäger, HR;
Nicholas, J;
... Caine, D; + view all
(2013)
A cognitive chameleon: Lessons from a novel MAPT mutation case.
Neurocase
10.1080/13554794.2013.826697.
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Ling, H;
Kara, E;
Bandopadhyay, R;
Hardy, J;
Holton, J;
Xiromerisiou, G;
Lees, A;
... Revesz, T; + view all
(2013)
TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT.
Neurobiol Aging
, 34
(12)
2889.e5 - 2889.e9.
10.1016/j.neurobiolaging.2013.04.011.
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Liu, YT;
Hersheson, J;
Plagnol, V;
Fawcett, K;
Duberley, KE;
Preza, E;
Hargreaves, IP;
... Houlden, H; + view all
(2013)
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2013-306483.
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Lu, C;
(2013)
Developing Blood-Based Biomarkers of Disease Progression in Amyotrophic Lateral Sclerosis.
Doctoral thesis (Ph.D), UCL (University College London).
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M
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Machado, P;
Brady, S;
Hanna, MG;
(2013)
Update in inclusion body myositis.
Curr Opin Rheumatol
, 25
(6)
763 - 771.
10.1097/01.bor.0000434671.77891.9a.
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Mamais, A;
Raja, M;
Manzoni, C;
Dihanich, S;
Lees, A;
Moore, D;
Lewis, PA;
(2013)
Divergent α-synuclein solubility and aggregation properties in G2019S LRRK2 Parkinson's disease brains with Lewy Body pathology compared to idiopathic cases.
Neurobiol Dis
, 58
pp. 183-190.
10.1016/j.nbd.2013.05.017.
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Manzoni, C;
Lewis, PA;
(2013)
Dysfunction of the autophagy/lysosomal degradation pathway is a shared feature of the genetic synucleinopathies.
The FASEB Journal
, 27
(9)
3424 - 3429.
10.1096/fj.12-223842.
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Manzoni, C;
Mamais, A;
Dihanich, S;
Abeti, R;
Soutar, MP;
Plun-Favreau, H;
Giunti, P;
... Lewis, PA; + view all
(2013)
Inhibition of LRRK2 kinase activity stimulates macroautophagy.
Biochim Biophys Acta
, 1833
(12)
pp. 2900-2910.
10.1016/j.bbamcr.2013.07.020.
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Manzoni, C;
Mamais, A;
Dihanich, S;
McGoldrick, P;
Devine, MJ;
Zerle, J;
Kara, E;
... Lewis, PA; + view all
(2013)
Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation.
Biochemical and Biophysical Research Communications
, 441
(4)
pp. 862-866.
10.1016/j.bbrc.2013.10.159.
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Martino, D;
Stamelou, M;
Bhatia, KP;
(2013)
The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician.
Journal of Neurology, Neurosurgery and Psychiatry
, 84
(6)
650 -656.
10.1136/jnnp-2012-302532.
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McNeill, A;
Wu, RM;
Tzen, KY;
Aguiar, PC;
Arbelo, JM;
Barone, P;
Bhatia, K;
... Schapira, AH; + view all
(2013)
Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis.
PLOS ONE
, 8
(7)
, Article e69190. 10.1371/journal.pone.0069190.
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Mead, S;
Gandhi, S;
Beck, J;
Caine, D;
Gallujipali, D;
Carswell, C;
Hyare, H;
... Collinge, J; + view all
(2013)
A Novel Prion Disease Presenting with Diarrhea and Autonomic Neuropathy.
New England Journal of Medicine
, 369
(20)
1904- 1914.
10.1056/NEJMoa1214747.
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Miquel, M;
Spampinato, U;
Latxague, C;
Aviles-Olmos, I;
Bader, B;
Bertram, K;
Bhatia, K;
... Tison, F; + view all
(2013)
Short and Long Term Outcome of Bilateral Pallidal Stimulation in Chorea-Acanthocytosis.
PLoS One
, 8
(11)
, Article e79241. 10.1371/journal.pone.0079241.
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Mizielinska, S;
Lashley, T;
Norona, FE;
Clayton, EL;
Ridler, CE;
Fratta, P;
Isaacs, AM;
(2013)
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.
Acta Neuropathologica
, 126
(6)
845- 857.
10.1007/s00401-013-1200-z.
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Morrow, JM;
Matthews, E;
Raja Rayan, DL;
Fischmann, A;
Sinclair, CD;
Reilly, MM;
Thornton, JS;
... Yousry, TA; + view all
(2013)
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.
Neuromuscular Disorders
, 23
(8)
pp. 637-646.
10.1016/j.nmd.2013.05.001.
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Murphy, SM;
Ernst, D;
Wei, Y;
Laurà, M;
Liu, YT;
Polke, J;
Blake, J;
... Reilly, MM; + view all
(2013)
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.
Neurology
, 80
(23)
2106 - 2111.
10.1212/WNL.0b013e318295d789.
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N
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Nalini, A;
Pandraud, A;
Mok, K;
Houlden, H;
(2013)
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.
Journal of the Neurological Sciences
, 334
(1-2)
119 - 122.
10.1016/j.jns.2013.08.003.
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Novoselov, SS;
Mustill, WJ;
Gray, AL;
Dick, JR;
Kanuga, N;
Kalmar, B;
Greensmith, L;
(2013)
Molecular Chaperone Mediated Late-Stage Neuroprotection in the SOD1(G93A) Mouse Model of Amyotrophic Lateral Sclerosis.
PLoS One
, 8
(8)
, Article e73944. 10.1371/journal.pone.0073944.
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P
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Proukakis, C;
Houlden, H;
Schapira, AH;
(2013)
Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data.
Movement Disorders
10.1002/mds.25502.
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R
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Rossant, C;
Harris, KD;
(2013)
Hardware-accelerated interactive data visualization for neuroscience in Python.
Front Neuroinform
, 7
, Article 36. 10.3389/fninf.2013.00036.
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S
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Schiavo, G;
Greensmith, L;
Hafezparast, M;
Fisher, EM;
(2013)
Cytoplasmic dynein heavy chain: the servant of many masters.
Trends Neurosci
, 36
(11)
pp. 641-651.
10.1016/j.tins.2013.08.001.
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Schwingenschuh, P;
Saifee, TA;
Katschnig-Winter, P;
Reilly, MM;
Lunn, MP;
Manji, H;
Aguirregomozcorta, M;
... Edwards, MJ; + view all
(2013)
Cerebellar learning distinguishes inflammatory neuropathy with and without tremor.
Neurology
, 80
(20)
1867 - 1873.
10.1212/WNL.0b013e318292a2b8.
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Seth, JH;
Panicker, JN;
Fowler, CJ;
Dowson, C;
Khan, MS;
Dasgupta, P;
Sahai, A;
(2013)
Botulinum toxin-A for the treatment of overactive bladder: UK contributions.
Journal of Clinical Urology
, 6
(2)
77 - 83.
10.1177/2051415812473096.
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Sethi, V;
Muhlert, N;
Ron, M;
Golay, X;
Wheeler-Kingshott, CA;
Miller, DH;
Chard, DT;
(2013)
MS Cortical Lesions on DIR: Not Quite What They Seem?
PLoS One
, 8
(11)
, Article e78879. 10.1371/journal.pone.0078879.
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Sharp, SI;
Hu, Y;
Weymer, JF;
Rizig, M;
McQuillin, A;
Hunt, SP;
Gurling, HM;
(2013)
The effect of clozapine on mRNA expression for genes encoding G protein-coupled receptors and the protein components of clathrin-mediated endocytosis.
Psychiatr Genet
, 23
(4)
153 - 162.
10.1097/YPG.0b013e32835fe51d.
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Soreq, L;
Bergman, H;
Israel, Z;
Soreq, H;
(2013)
Deep brain stimulation modulates nonsense-mediated RNA decay in Parkinson’s patients leukocytes.
BMC Genomics
, 14
, Article 478. 10.1186/1471-2164-14-478.
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Stamelou, M;
Adams, M;
Davagnanam, I;
Batla, A;
Sheerin, U;
Talbot, K;
Bhatia, KP;
(2013)
Progressive ataxia and palatal tremor associated with dense pontine calcification: A unique case.
Mov Disord
, 28
(8)
pp. 1155-1157.
10.1002/mds.25310.
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Stamelou, M;
Hoeglinger, GU;
(2013)
Atypical parkinsonism: An Update.
Current Opinion in Neurology
, 26
(4)
401 - 405.
10.1097/WCO.0b013e3283632da6.
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Stamelou, M;
Schneider, SA;
Batla, A;
Bhatia, KP;
Lai, SC;
Yeh, T-H;
Lu, C-S;
... Houlden, H; + view all
(2013)
Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes?
Movement Disorders
, 28
(10)
1325 - 1329.
10.1002/mds.25490.
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Steadman, D;
(2013)
Novel routes towards antibiotics using organocatalytic and biocatalytic approaches.
Doctoral thesis , UCL (University College London).
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T
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Tomlinson, SE;
Rajakulendran, S;
Tan, SV;
Graves, TD;
Bamiou, DE;
Labrum, RW;
Burke, D;
... Hanna, MG; + view all
(2013)
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
J Neurol Neurosurg Psychiatry
, 84
(10)
1107 - 1112.
10.1136/jnnp-2012-304131.
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Trabzuni, D;
Ryten, M;
Emmett, W;
Ramasamy, A;
Lackner, KJ;
Zeller, T;
Walker, R;
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