Browse by UCL people
Group by: Type | Date
Number of items: 9.
Article
Forsythe, E;
Kenny, J;
Bacchelli, C;
Beales, PL;
(2018)
Managing Bardet-Biedl Syndrome-Now and in the Future.
Frontiers in Pediatrics
, 6
, Article 23. 10.3389/fped.2018.00023.
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Franko, E;
Wehner, T;
Joly, O;
Lowe, J;
Porter, MC;
Kenny, J;
Thompson, A;
... Mead, S; + view all
(2016)
Quantitative EEG parameters correlate with the progression of human prion diseases.
Journal of Neurology, Neurosurgery & Psychiatry
, 87
(10)
pp. 1061-1067.
10.1136/jnnp-2016-313501.
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Kenny, J;
Bacchelli, C;
Forsythe, E;
Beales, P;
(2017)
Toward personalized medicine in Bardet-Biedl syndrome.
Personalized Medicine
10.2217/pme-2017-0019.
(In press).
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Kenny, J;
Woollacott, I;
Koriath, C;
Hosszu, L;
Adamson, G;
Rudge, P;
Rossor, MN;
... Mead, S; + view all
(2017)
A novel prion protein variant in a patient with semantic dementia.
[Letter].
Journal of Neurology Neurosurgery and Psychiatry
, 2017
(88)
pp. 890-892.
10.1136/jnnp-2017-315577.
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Koriath, C;
(2018)
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
Molecular Psychiatry
10.1038/s41380-018-0224-0.
(In press).
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Mead, S;
Burnell, M;
Lowe, J;
Thompson, A;
Lukic, A;
Porter, MC;
Carswell, C;
... Collinge, J; + view all
(2016)
Clinical Trial Simulations Based on Genetic Stratification and the Natural History of a Functional Outcome Measure in Creutzfeldt-Jakob Disease.
JAMA Neurology
, 73
(4)
pp. 447-455.
10.1001/jamaneurol.2015.4885.
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Minikel, EV;
Vallabh, SM;
Orseth, MC;
Brandel, J-P;
Haïk, S;
Laplanche, J-L;
Zerr, I;
... Mead, S; + view all
(2019)
Age at onset in genetic prion disease and the design of preventive clinical trials.
Neurology
, 93
(2)
e125-e134.
10.1212/WNL.0000000000007745.
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Ryan, NS;
Nicholas, JM;
Weston, PSJ;
Liang, Y;
Lashley, T;
Guerreiro, R;
Adamson, G;
... Fox, NC; + view all
(2016)
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
LANCET NEUROLOGY
, 15
(13)
pp. 1326-1335.
10.1016/S1474-4422(16)30193-4.
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Thesis
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Kenny, Joanna;
(2019)
Genomics and Personalised Medicine: Diagnostics, Deep Phenotyping and Pharmacogenomics in Cohorts of Rare Disease Patients.
Doctoral thesis (Ph.D), UCL (University College London).
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