Research output per year
Research output per year
Personal profile
Biography
Natalie Grima was awarded a Bachelor of Science (Advanced) majoring in Biochemistry and Immunology from The University of Sydney in 2016. She completed her Honours year with the Children's Cancer Research Unit at Westmead Kids Research Institute where she examined how inherited genetic variants may cause cancer predisposition in children. Natalie joined the Macquarie University Centre for Motor Neuron Disease Research in 2018, working as a Research Assistant for The Genetics and Genomics Team led by Prof Ian Blair. In 2021, Natalie commenced her PhD studies with the Genomics and Bioinformatics Team and Genetics and Genomics Team.
Natalie's research is focused on identifying novel genomic and transcriptomic features of sporadic motor neuron disease (MND) using extensive and unique patient cohorts. Natalie is particularly interested in the role of alternative splicing and short tandem repeat expansions in MND pathogenesis.
Education/Academic qualification
Applied Medical Science, BSc (Adv) (Honours I), University of Sydney
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Research Outputs
- 135 Citations
- 7 h-index
- 15 Article
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Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord
Trist, B. G., Genoud, S., Roudeau, S., Rookyard, A., Abdeen, A., Cottam, V., Hare, D. J., White, M., Altvater, J., Fifita, J. A., Hogan, A., Grima, N., Blair, I. P., Kysenius, K., Crouch, P. J., Carmona, A., Rufin, Y., Claverol, S., Van Malderen, S., Falkenberg, G. & 10 others, , 14 Sep 2022, In: Brain. 145, 9, p. 3108-3130 23 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile7 Citations (Scopus)5 Downloads (Pure) -
Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration
Trist, B. G., Fifita, J. A., Hogan, A., Grima, N., Smith, B., Troakes, C., Vance, C., Shaw, C. E., Al-Sarraj, S., Blair, I. P. & Double, K. L., 25 Aug 2022, In: Acta Neuropathologica Communications. 10, p. 1-17 17 p., 122.Research output: Contribution to journal › Article › peer-review
Open AccessFile5 Downloads (Pure) -
NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk
Grima, N., Henden, L., Fearnley, L. G., Rowe, D. B., D'Silva, S., Pamphlett, R., Adams, L., Kiernan, M. C., Mazumder, S., Timmins, H. C., Zoing, M., Bahlo, M., Blair, I. P. & Williams, K. L., Aug 2022, In: Neurobiology of Aging. 116, p. 92-95 4 p.Research output: Contribution to journal › Article › peer-review
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Rare germline variants in childhood cancer patients suspected of genetic predisposition to cancer
Sylvester, D. E., Chen, Y., Grima, N., Saletta, F., Padhye, B., Bennetts, B., Wright, D., Krivanek, M., Graf, N., Zhou, L., Catchpoole, D., Kirk, J., Latchoumanin, O., Qiao, L., Ballinger, M., Thomas, D., Jamieson, R., Dalla-Pozza, L. & Byrne, J. A., Feb 2022, In: Genes, Chromosomes and Cancer. 61, 2, p. 81-93 13 p.Research output: Contribution to journal › Article › peer-review
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Simultaneous isolation of high-quality RNA and DNA from postmortem human central nervous system tissues for omics studies
Grima, N., Henden, L., Watson, O., Blair, I. P. & Williams, K. L., 29 Jan 2022, In: Journal of Neuropathology and Experimental Neurology. 81, 2, p. 135-145 11 p.Research output: Contribution to journal › Article › peer-review
Prizes
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FMHHS 6th EnCouRage Research Symposium Poster Prize (2nd place)
Grima, Natalie (Recipient), 27 Sep 2021
Prize
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Macquarie Neurodegeneration Meeting Best Student Oral Presentation
Grima, Natalie (Recipient), 16 Sep 2022
Prize