Browse by UCL people
Group by: Type | Date
Number of items: 9.
Article
Bochukova, EG;
Lawler, K;
Croizier, S;
Keogh, JM;
Patel, N;
Strohbehn, G;
Lo, KK;
... Farooqi, IS; + view all
(2018)
A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome.
Cell Reports
, 22
(13)
pp. 3401-3408.
10.1016/j.celrep.2018.03.018.
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Cortese, A;
Simone, R;
Sullivan, R;
Vandrovcova, J;
Tariq, H;
Yan, YW;
Humphrey, J;
... Houlden, H; + view all
(2019)
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Nature Genetics
, 51
(4)
pp. 649-658.
10.1038/s41588-019-0372-4.
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Curtis, D;
Coelewij, L;
Liu, S-H;
Humphrey, J;
Mott, R;
(2018)
Weighted Burden Analysis of Exome-Sequenced Case-Control Sample Implicates Synaptic Genes in Schizophrenia Aetiology.
Behavior Genetics
, 48
(3)
pp. 198-208.
10.1007/s10519-018-9893-3.
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Devoy, A;
Kalmar, B;
Stewart, M;
Park, H;
Burke, B;
Noy, SJ;
Redhead, Y;
... Fisher, EMC; + view all
(2017)
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.
Brain
, 140
(11)
pp. 2797-2805.
10.1093/brain/awx248.
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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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Habib, AM;
Matsuyama, A;
Okorokov, AL;
Santana, S;
Bras, JT;
Aloisi, AM;
Emery, EC;
... Cox, JJ; + view all
(2018)
A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.
Brain
, 141
(2)
pp. 365-376.
10.1093/brain/awx326.
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Humphrey, J;
Emmett, W;
Fratta, P;
Isaacs, AM;
Plagnol, V;
(2017)
Quantitative analysis of cryptic splicing associated with TDP-43 depletion.
BMC Medical Genomics
, 10
(1)
, Article 38. 10.1186/s12920-017-0274-1.
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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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Thesis
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Humphrey, Jack;
(2019)
RNA dysregulation in models of frontotemporal dementia and amyotrophic lateral sclerosis.
Doctoral thesis (Ph.D), UCL (University College London).
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