Browse by UCL people
Group by: Type | Date
Number of items: 121.
2024
Godoy-Corchuelo, Juan M;
Ali, Zeinab;
Brito Armas, Jose M;
Martins-Bach, Aurea B;
García-Toledo, Irene;
Fernández-Beltrán, Luis C;
López-Carbonero, Juan I;
... Corrochano, Silvia; + view all
(2024)
TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43.
Neurobiology of Disease
, 193
, Article 106437. 10.1016/j.nbd.2024.106437.
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Lana-Elola, Eva;
Aoidi, Rifdat;
Llorian, Miriam;
Gibbins, Dorota;
Buechsenschuetz, Callan;
Bussi, Claudio;
Flynn, Helen;
... Tybulewicz, Victor LJ; + view all
(2024)
Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome.
Science Translational Medicine
, 16
(731)
, Article eadd6883. 10.1126/scitranslmed.add6883.
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Milioto, Carmelo;
Carcolé, Mireia;
Giblin, Ashling;
Coneys, Rachel;
Attrebi, Olivia;
Ahmed, Mhoriam;
Harris, Samuel S;
... Isaacs, Adrian M; + view all
(2024)
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.
Nature Neuroscience
10.1038/s41593-024-01589-4.
(In press).
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2023
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Ali, Zeinab;
Godoy-Corchuelo, Juan M;
Martins-Bach, Aurea B;
Garcia-Toledo, Irene;
Fernández-Beltrán, Luis C;
Nair, Remya R;
Spring, Shoshana;
... Corrochano, Silvia; + view all
(2023)
Mutation in the FUS nuclear localisation signal domain causes neurodevelopmental and systemic metabolic alterations.
Disease Models & Mechanisms
, 16
(10)
, Article dmm050200. 10.1242/dmm.050200.
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Fisher, Elizabeth MC;
Greensmith, Linda;
Malaspina, Andrea;
Fratta, Pietro;
Hanna, Michael G;
Schiavo, Giampietro;
Isaacs, Adrian M;
... Arozena, Abraham Acevedo; + view all
(2023)
Opinion: more mouse models and more translation needed for ALS.
Molecular Neurodegeneration
, 18
(1)
, Article 30. 10.1186/s13024-023-00619-2.
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Muza, PM;
Bush, D;
Pérez-González, M;
Zouhair, I;
Cleverley, K;
Sopena, ML;
Aoidi, R;
... Chang, P; + view all
(2023)
Cognitive impairments in a Down syndrome model with abnormal hippocampal and prefrontal dynamics and cytoarchitecture.
iScience
, 26
(2)
, Article 106073. 10.1016/j.isci.2023.106073.
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Muza, PM;
Pérez, M;
Noy, S;
Kurosawa, M;
Katsouri, L;
Tybulewicz, VLJ;
Fisher, EMC;
(2023)
Affordable optical clearing and immunolabelling in mouse brain slices.
BMC research notes
, 16
(1)
, Article 246. 10.1186/s13104-023-06511-y.
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Redhead, Yushi;
Gibbins, Dorota;
Lana-Elola, Eva;
Watson-Scales, Sheona;
Dobson, Lisa;
Krause, Matthias;
Liu, Karen J;
... Tybulewicz, Victor LJ; + view all
(2023)
Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes.
Development
, 150
(8)
, Article dev201077. 10.1242/dev.201077.
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Serrano, ME;
Kim, E;
Siow, B;
Ma, D;
Rojo, L;
Simmons, C;
Hayward, D;
... Cash, D; + view all
(2023)
Investigating brain alterations in the Dp1Tyb mouse model of Down syndrome.
Neurobiology of Disease
, 188
, Article 106336. 10.1016/j.nbd.2023.106336.
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Sloan, Kourtney;
Thomas, Jared;
Blackwell, Matthew;
Voisard, Deanna;
Lana-Elola, Eva;
Watson-Scales, Sheona;
Roper, Daniel L;
... Roper, Randall J; + view all
(2023)
Genetic dissection of triplicated chromosome 21 orthologs yields varying skeletal traits in Down syndrome model mice.
Disease Models & Mechanisms
, 16
(4)
, Article dmm049927. 10.1242/dmm.049927.
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2022
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Brown, Anna-Leigh;
Wilkins, Oscar G;
Keuss, Matthew J;
Hill, Sarah E;
Zanovello, Matteo;
Lee, Weaverly Colleen;
Bampton, Alexander;
... Fratta, Pietro; + view all
(2022)
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Nature
, 603
pp. 131-137.
10.1038/s41586-022-04436-3.
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Cannavo, C;
Cleverley, K;
Maduro, C;
Mumford, P;
Moulding, D;
Fisher, EMC;
Wiseman, FK;
(2022)
Endosomal structure and APP biology are not altered in a preclinical mouse cellular model of Down syndrome.
PLoS ONE
, 17
(5)
, Article e0262558. 10.1371/journal.pone.0262558.
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Mumford, Paige;
Tosh, Justin;
Anderle, Silvia;
Wikberg, Eleni Gkanatsiou;
Lau, Gloria;
Noy, Sue;
Cleverley, Karen;
... Wiseman, Frances K; + view all
(2022)
Genetic mapping of APP and amyloid-β biology modulation by trisomy 21.
Journal of Neuroscience
, 42
(33)
pp. 6453-6468.
10.1523/JNEUROSCI.0521-22.2022.
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Roos, P;
Johannsen, P;
Lindquist, SG;
Brown, JM;
Waldemar, G;
Duno, M;
Nielsen, TT;
... Nielsen, JE; + view all
(2022)
Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.
Acta Neurologica Scandinavica
, 145
(5)
pp. 529-540.
10.1111/ane.13578.
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2021
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Birsa, N;
Ule, AM;
Garone, MG;
Tsang, B;
Mattedi, F;
Chong, PA;
Humphrey, J;
... Fratta, P; + view all
(2021)
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation.
Science Advances
, 7
(30)
, Article eabf8660. 10.1126/sciadv.abf8660.
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Cleverley, K;
Lee, WC;
Mumford, P;
Collins, T;
Rickman, M;
Cunningham, TJ;
Cleak, J;
... Fisher, EMC; + view all
(2021)
A novel knockout mouse for the small EDRK-rich factor 2 (Serf2) showing developmental and other deficits.
Mammalian Genome
10.1007/s00335-021-09864-6.
(In press).
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Devoy, A;
Price, G;
De Giorgio, F;
Bunton-Stasyshyn, R;
Thompson, D;
Gasco, S;
Allan, A;
... Cunningham, TJ; + view all
(2021)
Generation and analysis of innovative genomically humanized knockin SOD1, TARDBP (TDP-43), and FUS mouse models.
iScience
, 24
(12)
, Article 103463. 10.1016/j.isci.2021.103463.
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Dierssen, M;
Herault, Y;
Helguera, P;
Martinez de Lagran, M;
Vazquez, A;
Christian, B;
Carmona-Iragui, M;
... Bhattacharyya, A; + view all
(2021)
Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society.
Molecular Syndromology
10.1159/000514437.
(In press).
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Garone, MG;
Birsa, N;
Rosito, M;
Salaris, F;
Mochi, M;
de Turris, V;
Nair, RR;
... Rosa, A; + view all
(2021)
ALS-related FUS mutations alter axon growth in motoneurons and affect HuD/ELAVL4 and FMRP activity.
Communications Biology
, 4
, Article 1025. 10.1038/s42003-021-02538-8.
(In press).
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Kalisch-Smith, JI;
Ved, N;
Szumska, D;
Munro, J;
Troup, M;
Harris, SE;
Rodriguez-Caro, H;
... Sparrow, DB; + view all
(2021)
Maternal iron deficiency perturbs embryonic cardiovascular development in mice.
Nature Communications
, 12
, Article 3447. 10.1038/s41467-021-23660-5.
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Lana-Elola, E;
Cater, H;
Watson-Scales, S;
Greenaway, S;
Müller-Winkler, J;
Gibbins, D;
Nemes, M;
... Tybulewicz, VLJ; + view all
(2021)
Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of down syndrome-related phenotypes.
Disease Models & Mechanisms
10.1242/dmm.049157.
(In press).
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Mejia Maza, A;
Jarvis, S;
Lee, WC;
Cunningham, TJ;
Schiavo, G;
Secrier, M;
Fratta, P;
... Sudre, CH; + view all
(2021)
NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease.
Scientific Reports
, 11
(1)
, Article 12251. 10.1038/s41598-021-91094-6.
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Tosh, J;
Tybulewicz, V;
Fisher, EMC;
(2021)
Mouse models of aneuploidy to understand chromosome disorders.
Mammalian Genome
10.1007/s00335-021-09930-z.
(In press).
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Tosh, JL;
Rhymes, ER;
Mumford, P;
Whittaker, HT;
Pulford, LJ;
Noy, SJ;
Cleverley, K;
... Wiseman, FK; + view all
(2021)
Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models.
Scientific Reports
, 11
(1)
, Article 5736. 10.1038/s41598-021-85062-3.
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Toussaint, N;
Redhead, Y;
Vidal-García, M;
Lo Vercio, L;
Liu, W;
Fisher, EMC;
Hallgrímsson, B;
... Green, JBA; + view all
(2021)
A landmark-free morphometrics pipeline for high-resolution phenotyping: application to a mouse model of Down syndrome.
Development
, 148
(18)
, Article dev188631. 10.1242/dev.188631.
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Wu, Y;
Whittaker, HT;
Noy, S;
Cleverley, K;
Brault, V;
Herault, Y;
Fisher, EMC;
(2021)
The effects of Cstb duplication on APP/amyloid-β pathology and cathepsin B activity in a mouse model.
PLoS One
, 16
(7)
, Article e0242236. 10.1371/journal.pone.0242236.
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Yu, Y;
Payne, C;
Marina, N;
Korsak, A;
Southern, P;
Garcia-Prieto, A;
Christie, IN;
... Lythgoe, MF; + view all
(2021)
Remote and Selective Control of Astrocytes by Magnetomechanical Stimulation.
Advanced Science
, Article 2104194. 10.1002/advs.202104194.
(In press).
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2020
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Alić, I;
Goh, PA;
Murray, A;
Portelius, E;
Gkanatsiou, E;
Gough, G;
Mok, KY;
... Nižetić, D; + view all
(2020)
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain.
Molecular Psychiatry
10.1038/s41380-020-0806-5.
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Cannavo, C;
Tosh, J;
Fisher, EMC;
Wiseman, FK;
(2020)
Using mouse models to understand Alzheimer's disease mechanisms in the context of trisomy of chromosome 21.
In: Dierssen, M, (ed.)
Progress in Brain Research.
(pp. 181-208).
Elsevier: London, UK.
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Chang, P;
Bush, D;
Schorge, S;
Good, M;
Canonica, T;
Shing, N;
Noy, S;
... Fisher, EMC; + view all
(2020)
Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down Syndrome.
Cell Reports
, 30
(4)
1152-1163.e4.
10.1016/j.celrep.2019.12.065.
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Cunningham, TJ;
Fisher, E;
Fratta, P;
Gilthorpe, JD;
(2020)
DNA Editing for Amyotrophic Lateral Sclerosis: Leading Off First Base.
The CRISPR Journal
, 3
(2)
pp. 75-77.
10.1089/crispr.2020.29087.tcu.
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Hithersay, R;
Baksh, RA;
Startin, CM;
Wijeratne, P;
Hamburg, S;
Carter, B;
LonDownS Consortium;
(2020)
Optimal age and outcome measures for Alzheimer's disease prevention trials in people with Down syndrome.
Alzheimer's & Dementia
10.1002/alz.12222.
(In press).
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Humphrey, J;
Birsa, N;
Milioto, C;
McLaughlin, M;
Ule, AM;
Robaldo, D;
Eberle, AB;
... Fratta, P; + view all
(2020)
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.
Nucleic Acids Research
10.1093/nar/gkaa410.
(In press).
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Ma, D;
Cardoso, MJ;
Zuluaga, MA;
Modat, M;
Powell, NM;
Wiseman, FK;
Cleary, JO;
... Ourselin, SE; + view all
(2020)
Substantially thinner internal granular layer and reduced molecular layer surface in the cerebellar cortex of the Tc1 mouse model of down syndrome – a comprehensive morphometric analysis with active staining contrast-enhanced MRI.
NeuroImage
, 223
, Article 117271. 10.1016/j.neuroimage.2020.117271.
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Nair, RR;
Tibbit, C;
Thompson, D;
McLeod, R;
Nakhuda, A;
Simon, MM;
Baloh, RH;
... Cunningham, TJ; + view all
(2020)
Sizing, stabilising, and cloning repeat-expansions for gene targeting constructs.
Methods
10.1016/j.ymeth.2020.07.007.
(In press).
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Prudencio, M;
Humphrey, J;
Pickles, S;
Brown, A-L;
Hill, SE;
Kachergus, J;
Shi, J;
... Petrucelli, L; + view all
(2020)
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
Journal of Clinical Investigation
10.1172/JCI139741.
(In press).
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Rayon, T;
Stamataki, D;
Perez-Carrasco, R;
Garcia-Perez, L;
Barrington, C;
Melchionda, M;
Exelby, K;
... Briscoe, J; + view all
(2020)
Species-specific pace of development is associated with differences in protein stability.
Science
, 369
(6510)
, Article eaba7667. 10.1126/science.aba7667.
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Sleigh, J;
Tosolini, A;
Gordon, D;
Devoy, A;
Fratta, P;
Fisher, E;
Talbot, K;
(2020)
Mice carrying ALS mutant TDP-43, but not mutant FUS, display in vivo defects in axonal transport of signalling endosomes.
Cell Reports
, 30
(11)
pp. 3655-3662.
10.1016/j.celrep.2020.02.078.
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Startin, CM;
D'Souza, H;
Ball, G;
Hamburg, S;
Hithersay, R;
Hughes, KMO;
Massand, E;
... Strydom, A; + view all
(2020)
Health comorbidities and cognitive abilities across the lifespan in Down syndrome.
Journal of Neurodevelopmental Disorders
, 12
, Article 4. 10.1186/s11689-019-9306-9.
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Terenzio, M;
Di Pizio, A;
Rishal, I;
Marvaldi, L;
Di Matteo, P;
Kawaguchi, R;
Coppola, G;
... Fainzilber, M; + view all
(2020)
DYNLRB1 is essential for dynein mediated transport and neuronal survival.
Neurobiology of Disease
, 140
, Article 104816. 10.1016/j.nbd.2020.104816.
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Thomas, JR;
LaCombe, J;
Long, R;
Lana-Elola, E;
Watson-Scales, S;
Wallace, JM;
Fisher, EMC;
... Roper, RJ; + view all
(2020)
Interaction of sexual dimorphism and gene dosage imbalance in skeletal deficits associated with Down syndrome.
Bone
, Article 115367. 10.1016/j.bone.2020.115367.
(In press).
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Thomas, MSC;
Ojinaga Alfageme, O;
D'Souza, H;
Patkee, PA;
Rutherford, MA;
Mok, KY;
Hardy, J;
... LonDownS Consortium; + view all
(2020)
A multi-level developmental approach to exploring individual differences in Down syndrome: genes, brain, behaviour, and environment.
Research in Developmental Disabilities
, 104
, Article 103638. 10.1016/j.ridd.2020.103638.
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2019
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Ahlfors, H;
Anyanwu, N;
Pakanavicius, E;
Dinischiotu, N;
Lana-Elola, E;
Watson-Scales, S;
Tosh, J;
... Tybulewicz, VLJ; + view all
(2019)
Gene expression dysregulation domains are not a specific feature of Down syndrome.
Nature Communications
, 10
(1)
, Article 2489. 10.1038/s41467-019-10129-9.
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De Giorgio, F;
Maduro, C;
Fisher, EMC;
Acevedo-Arozena, A;
(2019)
Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis.
Disease Models & Mechanisms
, 12
(1)
, Article dmm037424. 10.1242/dmm.037424.
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Fisher, EMC;
Bannerman, DM;
(2019)
Mouse models of neurodegeneration: Know your question, know your mouse.
Science Translational Medicine
, 11
(493)
, Article eaaq1818. 10.1126/scitranslmed.aaq1818.
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Granno, S;
Nixon-Abell, J;
Berwick, DC;
Tosh, J;
Heaton, G;
Almudimeegh, S;
Nagda, Z;
... Harvey, K; + view all
(2019)
Downregulated Wnt/β-catenin signalling in the Down syndrome hippocampus.
Scientific Reports
, 9
(1)
, Article 7322. 10.1038/s41598-019-43820-4.
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Hithersay, R;
Startin, CM;
Hamburg, S;
Mok, KY;
Hardy, J;
Fisher, EMC;
Tybulewicz, VLJ;
... Strydom, A; + view all
(2019)
Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years.
JAMA Neurology
, 76
(2)
pp. 152-160.
10.1001/jamaneurol.2018.3616.
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Kunkle, BW;
Grenier-Boley, B;
Sims, R;
Bis, JC;
Damotte, V;
Naj, AC;
Boland, A;
... Pericak-Vance, MA; + view all
(2019)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Nature Genetics
, 51
pp. 414-430.
10.1038/s41588-019-0358-2.
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Leonenko, G;
Sims, R;
Shoai, M;
Frizzati, A;
Bossu, P;
Spalletta, G;
Fox, NC;
... Munger, R; + view all
(2019)
Polygenic risk and hazard scores for Alzheimer's disease prediction.
Annals of Clinical and Translational Neurology
, 6
(3)
pp. 456-465.
10.1002/acn3.716.
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Nair, RR;
Corrochano, S;
Gasco, S;
Tibbit, C;
Thompson, D;
Maduro, C;
Ali, Z;
... Fisher, EMC; + view all
(2019)
Uses for humanised mouse models in precision medicine for neurodegenerative disease.
Mammalian Genome
, 30
pp. 173-191.
10.1007/s00335-019-09807-2.
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Startin, CM;
Ashton, NJ;
Hamburg, S;
Hithersay, R;
Wiseman, FK;
Mok, KY;
Hardy, J;
... Strydom, A; + view all
(2019)
Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer's disease.
Alzheimer's Research & Therapy
, 11
, Article 26. 10.1186/s13195-019-0477-0.
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Startin, CM;
Hamburg, S;
Strydom, A;
Strydom, A;
Fisher, E;
Nizetic, D;
Hardy, J;
... Karmiloff-Smith, A; + view all
(2019)
Comparison of Receptive Verbal Abilities Assessed Using the KBIT-2 and BPVS3 in Adults With Down Syndrome.
Frontiers in Psychology
, 9
, Article 2730. 10.3389/fpsyg.2018.02730.
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Startin, CM;
Lowe, B;
Hamburg, S;
Hithersay, R;
Strydom, A;
Fisher, E;
Nizetic, D;
... Karmiloff-Smith, A; + view all
(2019)
Validating the Cognitive Scale for Down Syndrome (CS-DS) to Detect Longitudinal Cognitive Decline in Adults With Down Syndrome.
Frontiers in Psychiatry
, 10
, Article 158. 10.3389/fpsyt.2019.00158.
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Zhu, F;
Nair, RR;
Fisher, EMC;
Cunningham, TJ;
(2019)
Humanising the mouse genome piece by piece.
Nature Communications
, 10
, Article 1845. 10.1038/s41467-019-09716-7.
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2018
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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)
Translating molecular advances in Down syndrome and Fragile X syndrome into therapies.
European Neuropsychopharmacology
, 28
(6)
pp. 675-690.
10.1016/j.euroneuro.2018.03.006.
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Firth, NC;
Startin, CM;
Hithersay, R;
Hamburg, S;
Wijeratne, PA;
Mok, KY;
Hardy, J;
... Strydom, A; + view all
(2018)
Aging related cognitive changes associated with Alzheimer's disease in Down syndrome.
Annals of Clinical and Translational Neurology
, 5
(6)
pp. 741-751.
10.1002/acn3.571.
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Fratta, P;
Sivakumar, P;
Humphrey, J;
Lo, K;
Ricketts, T;
Oliveira, H;
Brito-Armas, JM;
... Acevedo-Arozena, A; + view all
(2018)
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
EMBO Journal
, 2018
, Article e98684. 10.15252/embj.201798684.
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Naert, G;
Ferré, V;
Keller, E;
Slender, A;
Gibbins, D;
Fisher, EM;
Tybulewicz, VL;
(2018)
In vivo and ex vivo analyses of amyloid toxicity in the Tc1 mouse model of Down syndrome.
Journal of Psychopharmacology
, 32
(2)
pp. 174-190.
10.1177/0269881117743484.
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Roos, P;
von Essen, MR;
Nielsen, TT;
Johannsen, P;
Stokholm, J;
Bie, AS;
Waldemar, G;
... Nielsen, JE; + view all
(2018)
Inflammatory markers of CHMP2B-mediated frontotemporal dementia.
Journal of Neuroimmunology
, 324
pp. 136-142.
10.1016/j.jneuroim.2018.08.009.
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Sivakumar, P;
De Giorgio, F;
Ule, AM;
Neeves, J;
Nair, RR;
Bentham, M;
Birsa, N;
... Fratta, P; + view all
(2018)
TDP-43 mutations increase HNRNP A1-7B through gain of splicing function.
[Letter].
Brain
, 141
(12)
e83.
10.1093/brain/awy260.
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Startin, CM;
Hamburg, S;
Hithersay, R;
Al-Janabi, T;
Mok, KY;
Hardy, J;
LonDownS Consortium, .;
(2018)
Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome.
Alzheimer's & Dementia
10.1016/j.jalz.2018.08.009.
(In press).
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