Concepedia
Statistics
Publications
10
Citations
1.4K
H-Index
Active since
2017
Affiliations
University College London(Current)
National Hospital for Neurology and Neurosurgery
University of Helsinki
University of Oxford
Sorbonne Université
Prasanth Sivakumar is an author at University College London specializing in life sciences, genetics, and genomics.
Publications per year
2017–2023
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Andrea Cortese, Roberto Simone, Roisin Sullivan et al. · Nature Genetics · 2019 · 581 citations · Full text
Life Sciences, Neurology, Neurogenetics +9
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia
Mercedes Prudencio, Jack Humphrey, Sarah Pickles et al. · Journal of Clinical Investigation · 2020 · 257 citations · Full text
Life Sciences, Neurology, Neuroscience +12
Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis
Pietro Fratta, Prasanth Sivakumar, Jack Humphrey et al. · The EMBO Journal · 2018 · 187 citations · Full text
Life Sciences, Genetics, Neurology +17
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice
Anny Devoy, Bernadett Kalmár, Michelle Stewart et al. · Brain · 2017 · 122 citations · Full text
Life Sciences, Neurology, Neuroscience +17
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Carles Hernandéz-Ferrer, Davide Piscia, Enzo Cohen et al. · European Journal of Human Genetics · 2021 · 74 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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