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Number of items: 80.
A
Ahmed, R;
Guerreiro, R;
Rohrer, JD;
Guven, G;
Rossor, MN;
Hardy, J;
Fox, NC;
(2013)
A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.
Journal of the Neurological Sciences
, 332
(1-2)
pp. 141-144.
10.1016/j.jns.2013.06.007.
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Akhtar, S;
Grizenkova, J;
Wenborn, A;
Hummerich, H;
Fernandez de Marco, M;
Brandner, S;
Collinge, J;
(2013)
Sod1 deficiency reduces incubation time in mouse models of prion disease.
PLoS One
, 8
(1)
, Article e54454. 10.1371/journal.pone.0054454.
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Andrews, KA;
Modat, M;
Macdonald, KE;
Yeatman, T;
Cardoso, MJ;
Leung, KK;
Barnes, J;
... Lifestyle Flagship Study of Ageing; + view all
(2013)
Atrophy rates in asymptomatic amyloidosis: implications for Alzheimer prevention trials.
PLoS One
, 8
(3)
, Article e58816. 10.1371/journal.pone.0058816.
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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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Asante, EA;
Linehan, JM;
Smidak, M;
Tomlinson, A;
Grimshaw, A;
Jeelani, A;
Jakubcova, T;
... Collinge, J; + view all
(2013)
Inherited Prion Disease A117V Is Not Simply a Proteinopathy but Produces Prions Transmissible to Transgenic Mice Expressing Homologous Prion Protein.
PLoS Pathog
, 9
(9)
, Article e1003643. 10.1371/journal.ppat.1003643.
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B
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Barnes, J;
Carmichael, OT;
Leung, KK;
Schwarz, C;
Ridgway, GR;
Bartlett, JW;
Malone, IB;
... Alzheimer's Disease Neuroimaging Initiative, The; + view all
(2013)
Vascular and Alzheimer's disease markers independently predict brain atrophy rate in Alzheimer's Disease Neuroimaging Initiative controls.
Neurobiology of Aging
, 34
(8)
1996 - 2002.
10.1016/j.neurobiolaging.2013.02.003.
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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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Boccardi, Marina;
Bocchetta, Martina;
Barkhof, Frederik;
Bauer, Corinna;
Blair, Melanie;
Boutet, Claire;
Burton, Emma;
... Frisoni, Giovanni; + view all
(2013)
P4–372: Validation of the EADC‐ADNI Harmonized Protocol for Manual Hippocampal Segmentation: Preliminary Results.
Presented at: AAIC 2013, Boston, USA.
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Boccardi, Marina;
Bocchetta, Martina;
Nishikawa, Masami;
Ganzola, Rossana;
Grothe, Michel;
Wolf, Dominik;
Duchesne, Simon;
... Frisoni, Giovanni; + view all
(2013)
P4–345: Providing standardized labels of the EADC‐ADNI Harmonized Hippocampal Protocol for automated algorithm training.
Presented at: AAIC 2013, Boston, USA.
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Boccardi, Marina;
Robitaille, Nicolas;
Valdivia, Fernando;
Bocchetta, Martina;
Bauer, Corinna;
Blair, Melanie;
Burton, Emma;
... Frisoni, Giovanni; + view all
(2013)
P2–156: Training for manual hippocampal segmentation based on the EADC‐ADNI harmonized protocol.
Presented at: AAIC 2013, Boston, USA.
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Boccardi, Marina;
Robitaille, Nicolas;
Valdivia, Fernando;
Bocchetta, Martina;
Bauer, Corinna;
Blair, Melanie;
Burton, Emma;
... Frisoni, Giovanni; + view all
(2013)
IC‐P‐099: Training for manual hippocampal segmentation based on the EADC‐ADNI harmonized protocol.
Presented at: AAIC 2013, Boston, USA.
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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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C
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Cash, DM;
Ridgway, GR;
Liang, Y;
Ryan, NS;
Kinnunen, KM;
Yeatman, T;
Malone, IB;
... On behalf of the Dominantly Inherited Alzheimer Network (DIAN), .; + view all
(2013)
The pattern of atrophy in familial Alzheimer disease: Volumetric MRI results from the DIAN study.
Neurology
, 81
(16)
pp. 1425-1433.
10.1212/WNL.0b013e3182a841c6.
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Clark, CN;
Warren, JD;
(2013)
A hypnic hypothesis of Alzheimer's Disease.
Neurodegenerative Diseases
, 12
(4)
10.1159/000350060.
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Crutch, SJ;
Troche, J;
Reilly, J;
Ridgway, GR;
(2013)
Abstract conceptual feature ratings: the role of emotion, magnitude, and other cognitive domains in the organization of abstract conceptual knowledge.
Frontiers in Human Neuroscience
, 7
, Article 186. 10.3389/fnhum.2013.00186.
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D
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Doherty, KM;
Hardy, J;
(2013)
Parkin disease and the Lewy body conundrum.
Movement Disorders
, 28
(6)
pp. 702-704.
10.1002/mds.25486.
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Douglas, I;
Evans, S;
Rawlins, MD;
Smeeth, L;
Tabrizi, SJ;
Wexler, NS;
(2013)
Juvenile Huntington's disease: a population-based study using the General Practice Research Database.
BMJ Open
, 3
(4)
, Article e002085. 10.1136/bmjopen-2012-002085.
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Duchesne, Simon;
Valdivia, Fernando;
Robitaille, Nicolas;
Valdivia, Abiel;
Apostolova, Liana;
Bocchetta, Martina;
Ganzola, Rossana;
... Frisoni, Giovanni; + view all
(2013)
P2–168: Manual segmentation certification platform for the EADC‐ADNI harmonized protocol for the hippocampal volumetry project.
Presented at: AAIC 2013, Boston, USA.
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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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Fletcher, PD;
Downey, LE;
Agustus, JL;
Hailstone, JC;
Tyndall, MH;
Cifelli, A;
Schott, JM;
... Warren, JD; + view all
(2013)
Agnosia for accents in primary progressive aphasia.
Neuropsychologia
, 51
(9)
pp. 1709-1715.
10.1016/j.neuropsychologia.2013.05.013.
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Fletcher, PD;
Downey, LE;
Witoonpanich, P;
Warren, JD;
(2013)
The brain basis of musicophilia: evidence from frontotemporal lobar degeneration.
Front Psychol
, 4
, Article 347. 10.3389/fpsyg.2013.00347.
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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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Forabosco, P;
Ramasamy, A;
Trabzuni, D;
Walker, R;
Smith, C;
Bras, J;
Levine, AP;
... Ryten, M; + view all
(2013)
Insights into TREM2 biology by network analysis of human brain gene expression data.
Neurobiol Aging
, 34
(12)
pp. 2699-2714.
10.1016/j.neurobiolaging.2013.05.001.
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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;
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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G
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Gill, ON;
Spencer, Y;
Richard-Loendt, A;
Kelly, C;
Dabaghian, R;
Boyes, L;
Linehan, J;
... Brandner, S; + view all
(2013)
Prevalent abnormal prion protein in human appendixes after bovine spongiform encephalopathy epizootic: large scale survey.
BMJ
, 347
, Article f5675. 10.1136/bmj.f5675.
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Guerreiro, R;
Bilgic, B;
Guven, G;
Brás, J;
Rohrer, J;
Lohmann, E;
Hanagasi, H;
... Emre, M; + view all
(2013)
A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family.
Neurobiology of Aging
, 34
(12)
2890.e1-2890.e5.
10.1016/j.neurobiolaging.2013.06.005.
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H
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Hoang Duc, AK;
Modat, M;
Leung, KK;
Cardoso, MJ;
Barnes, J;
Kadir, T;
Ourselin, S;
(2013)
Using manifold learning for atlas selection in multi-atlas segmentation.
PLoS One
, 8
(8)
, Article e70059. 10.1371/journal.pone.0070059.
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Hölttä, M;
Hansson, O;
Andreasson, U;
Hertze, J;
Minthon, L;
Nägga, K;
Andreasen, N;
... Blennow, K; + view all
(2013)
Evaluating Amyloid-β Oligomers in Cerebrospinal Fluid as a Biomarker for Alzheimer's Disease.
PLoS One
, 8
(6)
, Article e66381. 10.1371/journal.pone.0066381.
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J
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Jorge Cardoso, M;
Leung, K;
Modat, M;
Keihaninejad, S;
Cash, D;
Barnes, J;
Fox, NC;
... Alzheimer’s Disease Neuroimaging Initiative; + view all
(2013)
STEPS: Similarity and Truth Estimation for Propagated Segmentations and its application to hippocampal segmentation and brain parcelation.
Med Image Anal
, 17
(6)
671 - 684.
10.1016/j.media.2013.02.006.
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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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Kasperaviciute, D;
Catarino, CB;
Matarin, M;
Leu, C;
Novy, J;
Tostevin, A;
Leal, B;
... Sisodiya, SM; + view all
(2013)
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Brain: A Journal of Neurology
, 136
(10)
pp. 3140-3150.
10.1093/brain/awt233.
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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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L
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Lashley, T;
Hardy, J;
Isaacs, AM;
(2013)
RANTing about C9orf72.
Neuron
, 77
(4)
597 - 598.
10.1016/j.neuron.2013.02.009.
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Lashley, T;
Rohrer, JD;
Mahoney, C;
Gordon, E;
Beck, J;
Mead, S;
Warren, J;
... Revesz, T; + view all
(2013)
A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.
Neuropathology and Applied Neurobiology
, 40
(4)
pp. 502-513.
10.1111/nan.12100.
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Leung, KK;
Bartlett, JW;
Barnes, J;
Manning, EN;
Ourselin, S;
Fox, NC;
(2013)
Cerebral atrophy in mild cognitive impairment and Alzheimer disease: rates and acceleration.
Neurology
, 80
(7)
648 - 654.
10.1212/WNL.0b013e318281ccd3.
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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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Lorenzi, Marco;
Bocchetta, Martina;
Ayache, Nicholas;
Pennec, Xavier;
Frisoni, Giovanni;
(2013)
IC‐P‐079: Conversion to MCI in healthy individuals with abnormal CSF beta‐amyloid 42 levels is associated with specific longitudinal morphological changes of the brain.
Presented at: AAIC 2013, Boston, USA.
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Lorenzi, Marco;
Bocchetta, Martina;
Ayache, Nicholas;
Pennec, Xavier;
Frisoni, Giovanni;
(2013)
P3–118: Conversion to MCI in healthy individuals with abnormal CSF Aβ42 levels is associated with specific longitudinal morphological changes of the brain.
Presented at: AAIC 2013, Boston, USA.
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M
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Macdonald, KE;
Bartlett, JW;
Leung, KK;
Ourselin, S;
Barnes, J;
ADNI investigators;
(2013)
The value of hippocampal and temporal horn volumes and rates of change in predicting future conversion to AD.
Alzheimer Dis Assoc Disord
, 27
(2)
168 - 173.
10.1097/WAD.0b013e318260a79a.
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Mahoney, CJ;
Downey, LE;
Beck, J;
Liang, Y;
Mead, S;
Perry, RJ;
Warren, JD;
(2013)
The Presenilin 1 P264L Mutation Presenting as non-Fluent/Agrammatic Primary Progressive Aphasia.
Journal of Alzheimer’s Disease
, 36
pp. 239-243.
10.3233/JAD-122092.
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Malone, IB;
Cash, D;
Ridgway, GR;
MacManus, DG;
Ourselin, S;
Fox, NC;
Schott, JM;
(2013)
MIRIAD--Public release of a multiple time point Alzheimer's MR imaging dataset.
Neuroimage
, 70
33 - 36.
10.1016/j.neuroimage.2012.12.044.
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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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Massey, LA;
Jäger, HR;
Paviour, DC;
O'Sullivan, SS;
Ling, H;
Williams, DR;
Kallis, C;
... Micallef, C; + view all
(2013)
The midbrain to pons ratio: a simple and specific MRI sign of progressive supranuclear palsy.
Neurology
, 80
(20)
1856 - 1861.
10.1212/WNL.0b013e318292a2d2.
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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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Meredith, JE;
Sankaranarayanan, S;
Guss, V;
Lanzetti, AJ;
Berisha, F;
Neely, RJ;
Slemmon, JR;
... Albright, CF; + view all
(2013)
Characterization of Novel CSF Tau and ptau Biomarkers for Alzheimer's Disease.
PLoS One
, 8
(10)
, Article e76523. 10.1371/journal.pone.0076523.
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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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Mok, KYB;
(2013)
Genetics of Neurodegenerative Disease -- A Genome-Wide Approach.
Doctoral thesis , UCL (University College London).
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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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Noyce, AJ;
Bestwick, JP;
Silveira-Moriyama, L;
Hawkes, CH;
Knowles, CH;
Hardy, J;
Giovannoni, G;
... Schrag, A; + view all
(2013)
PREDICT-PD: Identifying risk of Parkinson's disease in the community: methods and baseline results.
Journal of Neurology, Neurosurgery and Psychiatry
, 85
(1)
pp. 31-37.
10.1136/jnnp-2013-305420.
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O
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Osellame, LD;
Rahim, AA;
Hargreaves, IP;
Gegg, ME;
Richard-Londt, A;
Brandner, S;
Waddington, SN;
... Duchen, MR; + view all
(2013)
Mitochondria and quality control defects in a mouse model of Gaucher Disease-links to Parkinson's Disease.
Cell Metabolism
, 17
(6)
pp. 941-953.
10.1016/j.cmet.2013.04.014.
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P
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Pichler, I;
Del Greco, MF;
Gogele, M;
Lill, CM;
Bertram, L;
Do, CB;
Eriksson, N;
... Minelli, C; + view all
(2013)
Serum iron levels and the risk of Parkinson disease: a Mendelian randomization study.
PLoS.Med.
, 10
(6)
, Article e1001462. 10.1371/journal.pmed.1001462.
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R
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Ramasamy, A;
Trabzuni, D;
Gibbs, JR;
Dillman, A;
Hernandez, DG;
Arepalli, S;
Walker, R;
... Weale, ME; + view all
(2013)
Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies.
Nucleic Acids Research
, 41
(7)
, Article e88. 10.1093/nar/gkt069.
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Rohrer, JD;
Beck, J;
Plagnol, V;
Gordon, E;
Lashley, T;
Revesz, T;
Janssen, JC;
... Schott, JM; + view all
(2013)
Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia.
J Neurol Neurosurg Psychiatry
, 84
(12)
pp. 1411-1412.
10.1136/jnnp-2013-306116.
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Rohrer, JD;
Caso, F;
Mahoney, C;
Henry, M;
Rosen, HJ;
Rabinovici, G;
Rossor, MN;
... Gorno-Tempini, ML; + view all
(2013)
Patterns of longitudinal brain atrophy in the logopenic variant of primary progressive aphasia.
Brain and Language
, 127
(2)
121 - 126.
10.1016/j.bandl.2012.12.008.
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Ryan, NS;
Fox, NC;
(2013)
Reply: Implications of presymptomatic change in thalamus and caudate in Alzheimer's disease.
Brain: A Journal of Neurology
, 136
(11)
, Article e259. 10.1093/brain/awt168.
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