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
- 18 Article
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Characterising the genetic landscape of amyotrophic lateral sclerosis: a catalogue and assessment of over 1,000 published genetic variants
McCann, E. P., Grima, N., Fifita, J. A., Chan Moi Fat, S., Lehnert, K., Henden, L., Blair, I. P. & Williams, K. L., 7 Nov 2023, In: Journal of Neuromuscular Diseases. 10, 6, p. 1127-1141 15 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile2 Downloads (Pure) -
RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: considerations for biomarker discovery
Grima, N., Liu, S., Southwood, D., Henden, L., Smith, A., Lee, A., Rowe, D. B., D'Silva, S., Blair, I. P. & Williams, K. L., Dec 2023, In: Neuropathology and Applied Neurobiology. 49, 6, p. 1-16 16 p., e12943.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
Henden, L., Fearnley, L. G., Grima, N., McCann, E. P., Dobson-Stone, C., Fitzpatrick, L., Friend, K., Hobson, L., Chan Moi Fat, S., Rowe, D. B., D'Silva, S., Kwok, J. B., Halliday, G. M., Kiernan, M. C., Mazumder, S., Timmins, H. C., Zoing, M., Pamphlett, R., Adams, L., Bahlo, M., & 2 others, 5 May 2023, In: Science Advances. 9, 18, p. 1-15 16 p., eade2044.Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Citation (Scopus)14 Downloads (Pure) -
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 Sept 2022, In: Brain. 145, 9, p. 3108-3130 23 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile20 Citations (Scopus)11 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 AccessFile7 Citations (Scopus)9 Downloads (Pure)
Prizes
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Macquarie Neurodegeneration Meeting Best Student Oral Presentation
Grima, Natalie (Recipient), 16 Sept 2022
Prize