| Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia A Cortese, R Simone, R Sullivan, J Vandrovcova, H Tariq, WY Yau, ... Nature genetics 51 (4), 649-658, 2019 | 484 | 2019 |
| Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis P Fratta, P Sivakumar, J Humphrey, K Lo, T Ricketts, H Oliveira, ... The EMBO journal 37 (11), e98684, 2018 | 172 | 2018 |
| Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia M Prudencio, J Humphrey, S Pickles, AL Brown, SE Hill, JM Kachergus, ... The Journal of clinical investigation 130 (11), 2020 | 170 | 2020 |
| Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’knockin mice A Devoy, B Kalmar, M Stewart, H Park, B Burke, SJ Noy, Y Redhead, ... Brain 140 (11), 2797-2805, 2017 | 131 | 2017 |
| Neuronal intranuclear inclusion disease is genetically heterogeneous Z Chen, W Yan Yau, Z Jaunmuktane, A Tucci, P Sivakumar, ... Annals of clinical and translational neurology 7 (9), 1716-1725, 2020 | 52 | 2020 |
| Genome‐Wide Association Study Identifies Risk Loci for Cluster Headache E O'Connor, C Fourier, C Ran, P Sivakumar, F Liesecke, L Southgate, ... Annals of Neurology 90 (2), 193-202, 2021 | 51 | 2021 |
| Cluster Headache Genomewide Association Study and Meta‐Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor BS Winsvold, AVE Harder, C Ran, MA Chalmer, MC Dalmasso, ... Annals of Neurology 94 (4), 713-726, 2023 | 28 | 2023 |
| Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population M Zanovello, K Ibáñez, AL Brown, P Sivakumar, A Bombaci, L Santos, ... Brain 146 (7), 2723-2729, 2023 | 18 | 2023 |
| TDP-43 mutations increase HNRNP A1-7B through gain of splicing function P Sivakumar, F De Giorgio, AM Ule, J Neeves, RR Nair, M Bentham, ... Brain 141 (12), e83-e83, 2018 | 10 | 2018 |
| Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia A Cortese, R Simone, R Sullivan, J Vandrovcova, H Tariq, WY Yau, ... Nature genetics 51 (5), 920, 2019 | 7 | 2019 |
| A recessive repeat expansion causes CANVAS and is a common cause of Late-Onset Ataxia A Cortese, H Houlden, M Reilly, S Zuchner, W Marques, P Fratta, ... MOVEMENT DISORDERS 34, S101-S101, 2019 | | 2019 |
| A recessive repeat expansion causes CANVAS and is a frequent cause of late-onset sensory ataxia A Cortese, R Simone, R Sullivan, J Vandrovcova, WY Yau, J Humphrey, ... EUROPEAN JOURNAL OF NEUROLOGY 26, 82-82, 2019 | | 2019 |
| A RECESSIVE PENTANUCLEOTIDE REPEAT EXPANSION CAUSES CANVAS AND LATEONSET SENSORY ATAXIA A Cortese, R Simone, R Sullivan, J Vandrovcova, H Tariq, WY Yan, ... JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM 24, S16-S16, 2019 | | 2019 |
| RNA processing dysfunction in TDP-ALS P Sivakumar UCL (University College London), 2018 | | 2018 |
| A missense mutation in the Low Complexity Domain of endogenous TDP43 induces gain of splicing function and neurodegeneration in the mouse H Oliveira, P Fratta, T Ricketts, P Sivakumar, K Lo, J Humphrey, ... EUROPEAN JOURNAL OF NEUROLOGY 25, 670-670, 2018 | | 2018 |
| Dissecting TDP-43 gain-and loss-of-function in neurodegeneration P Sivakumar, J Humphrey, K Lo, T Ricketts, H Oliveira, B Kalmar, E Wang, ... Neuromuscular Disorders 28, S26, 2018 | | 2018 |
| Investigating dysfunctional RNA processing in TDP-43 mouse mutants P Sivakumar, J Humphrey, A Ule, C Bodo, W Emmett, T Ricketts, ... Neuromuscular Disorders 1 (27), S32, 2017 | | 2017 |
| Investigating dysfunctional RNA processing in TDP-43 mouse mutants P Sivakumar, A Gromadzka, C Bodo, J Humphrey, W Emmett, T Ricketts, ... NEUROMUSCULAR DISORDERS 26, S31-S31, 2016 | | 2016 |
