Research output per year
Research output per year
Personal profile
Research interests
Genetic, molecular and cellular studies in the familial motor neurone disorders including motor neuron disease (also known as amyotrophic lateral sclerosis - ALS +/- frontotemporal dimentia), spinal muscular atrophy and herediatry spastic paraplegia.
Research interests (short)
Genetic, molecular and cellular studies in the familial motor neurone disorders eg ALS.
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Education/Academic qualification
Doctor of Medicine, Axo-glial interactions, University of Otago
Award Date: 1 Jan 1997
Bachelor of Medicine and Bachelor of Surgery, University of Otago
Award Date: 1 Jan 1984
Keywords
- RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
- Motor Neuron Disease
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications
Iacoangeli, A., Dilliott, A. A., Al Khleifat, A., Andersen, P. M., Başak, N. A., Cooper-Knock, J., Corcia, P., Couratier, P., deCarvalho, M., Drory, V. E., Glass, J. D., Gotkine, M., Lerner, Y. M., Hardiman, O., Landers, J. E., McLaughlin, R. L., Pardina, J. S. M., Morrison, K., Pinto, S. & Povedano, M. & 13 others, , 13 Feb 2025, (E-pub ahead of print) In: Journal of neurology, neurosurgery, and psychiatry. jnnp-2024-335364.Research output: Contribution to journal › Article › peer-review
Open Access -
Towards a diagnostic test for sporadic ALS utilising deep learning and SNP microarrays
Hu, J., Pain, O., Al Khleifat, A., Shatunov, A., Andersen, P. M., Basak, N. A., Cooper-Knock, J., Corcia, P., Couratier, P., de Carvalho, M., Drory, V., Glass, J. D., Gotkine, M., Hardiman, O., Landers, J. E., McLaughlin, R., Mora Pardina, J. S., Morrison, K. E., Pinto, S. & Povedano, M. & 15 others, , 2025.Research output: Working paper/Preprint › Preprint
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Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data
Saez-Atienzar, S., Souza, C. D. S., Chia, R., Beal, S. N., Jones, A., van Vugt, J. J. F. A., van Rheenen, W., Iacoangeli, A., Shatunov, A., Al Khleifat, A., Opie-Martin, S., Raggi, F., Filosto, M., Piccinelli, S. C., Padovani, A., Gagliardi, S., Inghilleri, M., Ferlini, A., Vasta, R. & Calvo, A. & 12 others, , 13 Nov 2024, In: Cell genomics. 4, 11, p. 100679 100679.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons
Shum, C., Hedges, E. C., Allison, J., Lee, Y. B., Arias, N., Cocks, G., Chandran, S., Ruepp, M. D., Shaw, C. E. & Nishimura, A. L., 18 Jan 2024, In: Stem cell reports. 19, 2, p. 187-195 9 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Citations (Scopus) -
Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS
Project MinE ALS Sequencing Consortium, Jul 2024, In: Annals of Clinical and Translational Neurology. 11, 7, p. 1775-1786 12 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Citations (Scopus)
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Synaptic dysfunction in ALS-FUS
Vance, C. (Primary Investigator), Ruepp, M.-D. (Co-Investigator) & Shaw, C. (Co-Investigator)
MNDA Motor Neurone Disease Association
1/03/2025 → 29/02/2028
Project: Research
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SEPALS: SEPALS: Surface Electromyography as a tool to fast-track diagnosis and earmark effective therapies in Patients with Amyotrophic Lateral Sclerosis
Shaw, C. (Primary Investigator), Bashford, J. (Co-Investigator) & Iniesta, R. (Co-Investigator)
1/03/2025 → 28/02/2029
Project: Research
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Disrupted presynaptic proteostasis: a convergent pathomechanism for synaptopathy in frontotemporal dementia and amyotrophic lateral sclerosis.
Shaw, C. (Primary Investigator)
1/04/2023 → 31/03/2027
Project: Research
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UK DRI QQ2: UK Dementia Research Institute Centre Award QQ2
Ule, J. (Primary Investigator), Marzi, S. (Co-Investigator), Mizielinska, S. (Co-Investigator), Ruepp, M.-D. (Co-Investigator) & Shaw, C. (Co-Investigator)
UKDRI UK Dementia Research Institute
1/04/2023 → 31/03/2028
Project: Research
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Developing AAV gene therapy for Motor Neuron Disease
Lee, Y. (Primary Investigator) & Shaw, C. (Co-Investigator)
Motor Neurone Disease Association
1/02/2023 → 31/01/2026
Project: Research