Browse by UCL Departments and Centres
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Group by: Author | Type
Number of items: 32.
A
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Alrashidi, H;
Eaton, S;
Heales, S;
(2021)
Biochemical characterization of proliferative and differentiated SH-SY5Y cell line as a model for Parkinson’s disease.
Neurochemistry International
(In press).
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Andersen, MS;
Bandres-Ciga, S;
Reynolds, RH;
Hardy, J;
Ryten, M;
Krohn, L;
Gan-Or, Z;
... Pihlstrøm, L; + view all
(2021)
Heritability enrichment implicates microglia in Parkinson's disease pathogenesis.
Annals of Neurology
10.1002/ana.26032.
(In press).
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B
Bosch i Ara, L;
Katugampola, H;
Dattani, MT;
(2021)
Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome.
Frontiers in Pediatrics
, 8
, Article 600962. 10.3389/fped.2020.600962.
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C
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Chia, R;
Sabir, MS;
Bandres-Ciga, S;
Saez-Atienzar, S;
Reynolds, RH;
Gustavsson, E;
Walton, RL;
... Scholz, SW; + view all
(2021)
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Nature Genetics
, 53
pp. 294-30353.
10.1038/s41588-021-00785-3.
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Counsell, JR;
De Brabandere, G;
Karda, R;
Moore, M;
Greco, A;
Bray, A;
Diaz, JA;
... Waddington, SN; + view all
(2021)
Re-structuring lentiviral vectors to express genomic RNA via cap-dependent translation.
Molecular Therapy - Methods and Clinical Development
, 20
pp. 357-365.
10.1016/j.omtm.2020.12.005.
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D
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Di Cicco, E;
Moran, C;
Visser, WE;
Nappi, A;
Schoenmakers, E;
Todd, P;
Lyons, G;
... Dentice, M; + view all
(2021)
Germline mutations in the thyroid hormone receptor alpha gene predispose to cutaneous tags and melanocytic nevi.
Thyroid
10.1089/thy.2020.0391.
(In press).
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Doykov, I;
Hällqvist, J;
Gilmour, KC;
Grandjean, L;
Mills, K;
Heywood, WE;
(2021)
‘The long tail of Covid-19’ - The detection of a prolonged inflammatory response after a SARS-CoV-2 infection in asymptomatic and mildly affected patients [version 2; peer review: 2 approved].
F1000Research
, 9
, Article 1349. 10.12688/f1000research.27287.2.
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G
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García-Ruiz, S;
Gil-Martínez, AL;
Cisterna, A;
Jurado-Ruiz, F;
Reynolds, RH;
NABEC (North America Brain Expression Consortium), .;
Cookson, MR;
... Botía, JA; + view all
(2021)
CoExp: A Web Tool for the Exploitation of Co-expression Networks.
Frontiers in Gentics
, 12
, Article 630187. 10.3389/fgene.2021.630187.
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Graham, C;
Hart, S;
(2021)
CRISPR/Cas9 gene editing therapies for cystic fibrosis.
Expert Opinion on Biological Therapy
10.1080/14712598.2021.1869208.
(In press).
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H
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Hammond, J;
Garner, I;
Hill, M;
Patch, C;
Hunter, A;
Searle, B;
Sanderson, SC;
(2021)
Animation or leaflet: Does it make a difference when educating young people about genome sequencing?
Patient Education and Counseling
10.1016/j.pec.2021.02.048.
(In press).
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I
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Iwan, K;
Clayton, R;
Mills, P;
Csanyi, B;
Gissen, P;
Mole, SE;
Palmer, DN;
... Heywood, WE; + view all
(2021)
Urine Proteomics Analysis of Patients with Neuronal Ceroid Lipofuscinoses.
iScience
, 4
(2)
, Article 102020. 10.1016/j.isci.2020.102020.
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J
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Jabbari, E;
Koga, S;
Valentino, R;
Reynolds, R;
Ferrari, R;
Tan, M;
Rowe, J;
... Morris, H; + view all
(2021)
Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study.
The Lancet Neurology
, 20
(2)
pp. 107-116.
10.1016/S1474-4422(20)30394-X.
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Jones, CL;
Degasperi, A;
Grandi, V;
Amarante, TD;
Genomics England Research Consortium, .;
Mitchell, TJ;
Nik-Zainal, S;
(2021)
Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma.
Scientific Reports
, 11
(1)
, Article 3962. 10.1038/s41598-021-83352-4.
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K
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Kia, DA;
Zhang, D;
Guelfi, S;
Manzoni, C;
Hubbard, L;
Reynolds, RH;
Botía, J;
... Botiá, JA; + view all
(2021)
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.
JAMA Neurology
10.1001/jamaneurol.2020.5257.
(In press).
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Kildisiute, G;
Kholosy, WM;
Young, MD;
Roberts, K;
Elmentaite, R;
van Hooff, SR;
Pacyna, CN;
... Behjati, S; + view all
(2021)
Tumor to normal single-cell mRNA comparisons reveal a pan-neuroblastoma cancer cell.
Science Advances
, 7
(6)
, Article eabd3311. 10.1126/sciadv.abd3311.
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Kılavuz, S;
Bulut, D;
Kor, D;
Şeker-Yılmaz, B;
Özcan, N;
Incecik, F;
Onan, B;
... Önenli-Mungan, N; + view all
(2021)
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.
Neuropediatrics
10.1055/s-0040-1722691.
(In press).
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L
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Lewis, C;
Hammond, J;
Klapwijk, JE;
Harding, E;
Lou, S;
Vogel, I;
Szepe, EJ;
... Riedijk, S; + view all
(2021)
Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: an international cross-sectional study with healthcare professionals.
Prenatal Diagnosis
10.1002/pd.5932.
(In press).
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M
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Martin, HC;
Gardner, EJ;
Samocha, KE;
Kaplanis, J;
Akawi, N;
Sifrim, A;
Eberhardt, RY;
... Davidson, R; + view all
(2021)
The contribution of X-linked coding variation to severe developmental disorders.
Nature Communications
, 12
(1)
, Article 627. 10.1038/s41467-020-20852-3.
(In press).
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Minnis, CJ;
Townsend, S;
Petschnigg, J;
Tinelli, E;
Bähler, J;
Russell, C;
Mole, SE;
(2021)
Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease.
Scientific Reports
, 11
, Article 6332. 10.1038/s41598-021-85471-4.
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P
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Perocheau, D;
Touramanidou, L;
Gurung, S;
Gissen, P;
Baruteau, J;
(2021)
Clinical applications for exosomes: are we there yet?
British Journal of Pharmacology
10.1111/bph.15432.
(In press).
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Persani, L;
Bonomi, M;
Cools, M;
Dattani, M;
Dunkel, L;
Gravholt, CH;
Juul, A;
(2021)
ENDO-ERN expert opinion on the differential diagnosis of pubertal delay.
Endocrine
10.1007/s12020-021-02626-z.
(In press).
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R
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Reynolds, Regina Hertfelder;
(2021)
Exploring the importance of cell-type-specific gene expression regulation and splicing in Parkinson’s disease.
Doctoral thesis (Ph.D), UCL (University College London).
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S
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Saez-Atienzar, S;
Bandres-Ciga, S;
Langston, RG;
Kim, JJ;
Choi, SW;
Reynolds, RH;
International ALS Genomics Consortium, ;
... Traynor, BJ; + view all
(2021)
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types.
Science Advances
, 7
(3)
, Article eabd9036. 10.1126/sciadv.abd9036.
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Shoemark, A;
Rubbo, B;
Legendre, M;
Fassad, MR;
Haarman, EG;
Best, S;
Bon, ICM;
... Lucas, JS; + view all
(2021)
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
European Respiratory Journal
10.1183/13993003.02359-2020.
(In press).
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Spicer, C;
Lu, C-H;
Catapano, F;
Scoto, M;
Zaharieva, I;
Malaspina, A;
Morgan, JE;
... Zhou, H; + view all
(2021)
The altered expression of neurofilament in mouse models and patients with spinal muscular atrophy.
Annals of Clinical and Translational Neurology
10.1002/acn3.51336.
(In press).
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Sánchez, JA;
Gil-Martinez, AL;
Cisterna, A;
García-Ruíz, S;
Gómez-Pascual, A;
Reynolds, RH;
Nalls, M;
... Botía, JA; + view all
(2021)
Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights.
Bioinformatics
10.1093/bioinformatics/btab175.
(In press).
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T
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Thomas, G;
Zarkali, A;
Ryten, M;
Shmueli, K;
Gil Martinez, A;
Leyland, L;
McColgan, P;
... Weil, R; + view all
(2021)
Regional brain iron and gene expression provide insights into neurodegeneration in Parkinson’s disease.
Brain
(In press).
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Tsyklauri, O;
Niederlova, V;
Forsythe, E;
Prasai, A;
Drobek, A;
Kasparek, P;
Sparks, K;
... Stepanek, O; + view all
(2021)
Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance.
EMBO Reports
, Article e50785. 10.15252/embr.202050785.
(In press).
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V
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Volz, E;
Hill, V;
McCrone, JT;
Price, A;
Jorgensen, D;
O'Toole, Á;
Southgate, J;
... Connor, TR; + view all
(2021)
Evaluating the Effects of SARS-CoV-2 Spike Mutation D614G on Transmissibility and Pathogenicity.
Cell
, 184
(1)
64-75.e11.
10.1016/j.cell.2020.11.020.
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W
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Wagstaff, LJ;
Gomez-Sanchez, JA;
Fazal, SV;
Otto, GW;
Kilpatrick, AM;
Michael, K;
Wong, LY;
... Jessen, KR; + view all
(2021)
Failures of nerve regeneration caused by aging or chronic denervation are rescued by restoring Schwann cell c-Jun.
eLife
, 10
, Article e62232. 10.7554/eLife.62232.
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Y
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Yutuc, E;
Dickson, AL;
Pacciarini, M;
Griffiths, L;
Baker, PRS;
Connell, L;
Öhman, A;
... Wang, Y; + view all
(2021)
Deep Mining of Oxysterols and Cholestenoic Acids in Human Plasma and Cerebrospinal Fluid: Quantification using Isotope Dilution Mass Spectrometry.
Analytica Chimica Acta
, Article 338259. 10.1016/j.aca.2021.338259.
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Ş
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Şeker Yilmaz, B;
KÖr, D;
Bulut, FD;
Kilavuz, S;
Ceylaner, S;
Önenlİ Mungan, HN;
(2021)
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.
Turkish journal of medical sciences
10.3906/sag-2001-72.
(In press).
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