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Arianna Tucci
Arianna Tucci
Unknown affiliation
Verified email at ucl.ac.uk
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Year
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
7002021
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot Investigators
New England Journal of Medicine 385 (20), 1868-1880, 2021
3592021
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
AR Martin, E Williams, RE Foulger, S Leigh, LC Daugherty, O Niblock, ...
Nature genetics 51 (11), 1560-1565, 2019
3142019
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
E Kara, A Tucci, C Manzoni, DS Lynch, M Elpidorou, C Bettencourt, ...
Brain 139 (7), 1904-1918, 2016
2122016
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
E Dolzhenko, V Deshpande, F Schlesinger, P Krusche, R Petrovski, ...
Bioinformatics 35 (22), 4754-4756, 2019
2002019
Inhibition of NF-κB nuclear translocation via HO-1 activation underlies α-tocopheryl succinate toxicity
I Bellezza, A Tucci, F Galli, S Grottelli, AL Mierla, F Pilolli, A Minelli
The Journal of nutritional biochemistry 23 (12), 1583-1591, 2012
1942012
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
1832019
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course
N Setó‐Salvia, J Pagonabarraga, H Houlden, B Pascual‐Sedano, ...
Movement Disorders 27 (3), 393-399, 2012
1672012
Genetic variability at the PARK16 locus
A Tucci, MA Nalls, H Houlden, T Revesz, AB Singleton, NW Wood, ...
European Journal of Human Genetics 18 (12), 1356-1359, 2010
1122010
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset
KJ Billingsley, IA Barbosa, S Bandrés-Ciga, JP Quinn, VJ Bubb, ...
npj Parkinson's Disease 5 (1), 8, 2019
972019
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability
RH Reynolds, J Botía, MA Nalls, J Hardy, SA Gagliano Taliun, M Ryten
npj Parkinson's Disease 5 (1), 6, 2019
902019
Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 genomes project
G Wheway, HM Mitchison, Genomics England Research Consortium
Frontiers in genetics 10, 438269, 2019
892019
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
K Ibañez, J Polke, RT Hagelstrom, E Dolzhenko, D Pasko, ERA Thomas, ...
The Lancet Neurology 21 (3), 234-245, 2022
842022
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
D Steel, M Zech, C Zhao, KES Barwick, D Burke, D Demailly, KR Kumar, ...
Annals of neurology 88 (5), 867-877, 2020
782020
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation
V Chelban, MP Wilson, J Warman Chardon, J Vandrovcova, MN Zanetti, ...
Annals of Neurology 86 (2), 225-240, 2019
662019
Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis
R Dewan, R Chia, J Ding, RA Hickman, TD Stein, Y Abramzon, S Ahmed, ...
Neuron 109 (3), 448-460. e4, 2021
652021
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing
DS Lynch, G Koutsis, A Tucci, M Panas, M Baklou, M Breza, G Karadima, ...
European journal of human genetics 24 (6), 857-863, 2016
542016
The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism
LV Schottlaender, JM Polke, H Ling, ND MacDoanld, A Tucci, T Nanji, ...
Neurobiology of aging 36 (2), 1221. e1-1221. e6, 2015
502015
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice
AT Pagnamenta, P Heemeryck, HC Martin, C Bosc, L Peris, I Uszynski, ...
Human Molecular Genetics 28 (20), 3391-3405, 2019
482019
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
KR Schon, R Horvath, W Wei, C Calabrese, A Tucci, K Ibañez, T Ratnaike, ...
Bmj 375, 2021
462021
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