Browse by UCL people
Group by: Type | Date
Jump to: Article
Number of items: 17.
Article
Birkeland, Nina Asheim;
Carlsen, Viel Nyborg;
Gulati, Sasha;
Gustavsson, Emil K;
Aasly, Jan O;
(2022)
Deep brain stimulation in a Parkinson's disease patient with calcifications and a mutation in the SLC20A2 gene.
Parkinsonism & Related Disorders
, 98
pp. 88-90.
10.1016/j.parkreldis.2022.01.019.
|
|
Chelban, Viorica;
Pellerin, David;
Vijiaratnam, Nirosen;
Lee, Hamin;
Goh, Yen Yee;
Brown, Lauren;
Sambin, Sara;
... Houlden, Henry; + view all
(2025)
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.
Brain
, Article awaf134. 10.1093/brain/awaf134.
(In press).
|
 |
|
Chen, Z;
Gustavsson, EK;
Macpherson, H;
Anderson, C;
Clarkson, C;
Rocca, C;
Self, E;
... Ptáček, LJ; + view all
(2024)
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Movement Disorders
10.1002/mds.29704.
(In press).
|
|
Chen, Z;
Maroofian, R;
Başak, AN;
Shingavi, L;
Karakaya, M;
Efthymiou, S;
Gustavsson, EK;
... Sarraf, P; + view all
(2021)
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
European Journal of Neurology
, 28
(4)
pp. 1344-1355.
10.1111/ene.14649.
|
|
Chen, Zhongbo;
Alvarez Jerez, Pilar;
Anderson, Claire;
Paucar, Martin;
Lee, Jasmaine;
Nilsson, Daniel;
Macpherson, Hannah;
... Houlden, Henry; + view all
(2024)
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.
Movement Disorders
10.1002/mds.30077.
(In press).
|
 |
|
Chen, Zhongbo;
Tucci, Arianna;
Cipriani, Valentina;
Gustavsson, Emil K;
Ibañez, Kristina;
Reynolds, Regina H;
Zhang, David;
... Ryten, Mina; + view all
(2023)
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Brain
, 146
, Article awad009. 10.1093/brain/awad009.
|
|
Chen, Z;
Zhang, D;
Reynolds, RH;
Gustavsson, EK;
García-Ruiz, S;
D'Sa, K;
Fairbrother-Browne, A;
... Ryten, M; + view all
(2021)
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Nature Communications
, 12
, Article 2076. 10.1038/s41467-021-22262-5.
|
|
|
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.
|
|
García-Ruiz, Sonia;
Gustavsson, Emil K;
Zhang, David;
Reynolds, Regina H;
Chen, Zhongbo;
Fairbrother-Browne, Aine;
Gil-Martínez, Ana Luisa;
... Ryten, Mina; + view all
(2022)
IntroVerse: a comprehensive database of introns across human tissues.
Nucleic Acids Research
10.1093/nar/gkac1056.
(In press).
|
|
García-Ruiz, Sonia;
Reynolds, Regina Hertfelder;
Grant-Peters, Melissa;
Gustavsson, Emil Karl;
Fairbrother-Browne, Aine;
Chen, Zhongbo;
Brenton, Jonathan William;
(2023)
aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3.
GigaByte
, 2023
, Article gigabyte87. 10.46471/gigabyte.87.
|
|
Gustavsson, Emil K;
Follett, Jordan;
Trinh, Joanne;
Barodia, Sandeep K;
Real, Raquel;
Liu, Zhiyong;
Grant-Peters, Melissa;
... Farrer, Matthew J; + view all
(2024)
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
The Lancet Neurology
10.1016/S1474-4422(24)00121-2.
(In press).
|
|
Gustavsson, Emil K;
Zhang, David;
Reynolds, Regina H;
Garcia-Ruiz, Sonia;
Ryten, Mina;
(2022)
ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2.
Bioinformatics
10.1093/bioinformatics/btac409.
(In press).
|
|
Hartley, P;
Bonaldi, A;
Braun, R;
Aditya, JNHS;
Aicardi, S;
Alegre, L;
Chakraborty, A;
... Zuo, S; + view all
(2023)
SKA Science Data Challenge 2: analysis and results.
Monthly Notices of the Royal Astronomical Society
, 523
(2)
pp. 1967-1993.
10.1093/mnras/stad1375.
|
|
|
Krohn, Lynne;
Heilbron, Karl;
Blauwendraat, Cornelis;
Reynolds, Regina H;
Yu, Eric;
Senkevich, Konstantin;
Rudakou, Uladzislau;
... Gan-Or, Ziv; + view all
(2022)
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
Nature Communications
, 13
, Article 7496. 10.1038/s41467-022-34732-5.
|
|
Lai, D;
Alipanahi, B;
Fontanillas, P;
Schwantes-An, TH;
Aasly, J;
Alcalay, RN;
Beecham, GW;
... Wilson, CH; + view all
(2021)
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.
Annals of Neurology
, 90
(1)
pp. 76-88.
10.1002/ana.26094.
|
|
|
Laß, Joshua;
Thomsen, Mirja;
Borsche, Max;
Lüth, Theresa;
Prietzsche, Julia C;
Schaake, Susen;
Milovanović, Andona;
... Trinh, Joanne; + view all
(2025)
FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?
Brain
, Article awaf183. 10.1093/brain/awaf183.
(In press).
|
|
|
Zhang, Hao-Yu;
Minnis, Christopher;
Gustavsson, Emil;
Ryten, Mina;
Mole, Sara E;
(2024)
CLN3 transcript complexity revealed by long-read RNA sequencing analysis.
BMC Medical Genomics
, 17
, Article 244. 10.1186/s12920-024-02017-z.
|
|
