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Prasanth Sivakumar

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Articles 10
Citations 521
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Recent Articles
1.
Winsvold B, Harder A, Ran C, Chalmer M, Dalmasso M, Ferkingstad E, et al.
Ann Neurol . 2023 Jul; 94(4):713-726. PMID: 37486023
Objective: The objective of this study was to aggregate data for the first genomewide association study meta-analysis of cluster headache, to identify genetic risk variants, and gain biological insights. Methods:...
2.
Zanovello M, Ibanez K, Brown A, Sivakumar P, Bombaci A, Santos L, et al.
Brain . 2023 Feb; 146(7):2723-2729. PMID: 36797998
CAG repeat expansions in exon 1 of the AR gene on the X chromosome cause spinal and bulbar muscular atrophy, a male-specific progressive neuromuscular disorder associated with a variety of...
3.
OConnor E, Fourier C, Ran C, Sivakumar P, Liesecke F, Southgate L, et al.
Ann Neurol . 2021 Jun; 90(2):193-202. PMID: 34184781
Objective: This study was undertaken to identify susceptibility loci for cluster headache and obtain insights into relevant disease pathways. Methods: We carried out a genome-wide association study, where 852 UK...
4.
Prudencio M, Humphrey J, Pickles S, Brown A, Hill S, Kachergus J, et al.
J Clin Invest . 2020 Aug; 130(11):6080-6092. PMID: 32790644
No treatment for frontotemporal dementia (FTD), the second most common type of early-onset dementia, is available, but therapeutics are being investigated to target the 2 main proteins associated with FTD...
5.
Chen Z, Yau W, Jaunmuktane Z, Tucci A, Sivakumar P, Gagliano Taliun S, et al.
Ann Clin Transl Neurol . 2020 Aug; 7(9):1716-1725. PMID: 32777174
Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological intranuclear eosinophilic inclusions. A CGG repeat expansion in NOTCH2NLC was recently identified to be associated with...
6.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau W, et al.
Nat Genet . 2019 Apr; 51(5):920. PMID: 31028356
In the version of this article initially published, the name of author Wai Yan Yau was misspelled. The error has been corrected in the HTML and PDF versions of the...
7.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau W, et al.
Nat Genet . 2019 Mar; 51(4):649-658. PMID: 30926972
Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive, or vestibular impairment; when in combination, it is also termed cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). We...
8.
Sivakumar P, De Giorgio F, Ule A, Neeves J, Nair R, Bentham M, et al.
Brain . 2018 Oct; 141(12):e83. PMID: 30364928
No abstract available.
9.
Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, et al.
EMBO J . 2018 May; 37(11). PMID: 29764981
TDP-43 (encoded by the gene ) is an RNA binding protein central to the pathogenesis of amyotrophic lateral sclerosis (ALS). However, how mutations trigger pathogenesis remains unknown. Here, we use...
10.
Devoy A, Kalmar B, Stewart M, Park H, Burke B, Noy S, et al.
Brain . 2017 Oct; 140(11):2797-2805. PMID: 29053787
Mutations in FUS are causative for amyotrophic lateral sclerosis with a dominant mode of inheritance. In trying to model FUS-amyotrophic lateral sclerosis (ALS) in mouse it is clear that FUS...