Personal profile
Education/Academic qualification
Doctor of Science, King's College London
Award Date: 1 Jan 2006
Master of Science, Imperial College London
Award Date: 1 Jan 2002
Master of Biochemistry, University of Oxford
Award Date: 1 Jan 2001
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):
-
SDG 3 Good Health and Well-being
-
SDG 11 Sustainable Cities and Communities
Fingerprint
- 1 Similar Profiles
Collaborations and top research areas from the last five years
-
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 : a journal of neurology. 145, 9, p. 3108-3130 23 p.Research output: Contribution to journal › Article › peer-review
Open Access62 Citations (Scopus) -
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., Al-Sarraj, S., Blair, I. P. & Double, K. L., Dec 2022, In: Acta Neuropathologica Communications. 10, 1, 122.Research output: Contribution to journal › Article › peer-review
Open Access39 Citations (Scopus) -
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay
Gotkine, M., de Majo, M., Wong, C. H., Topp, S. D., Michaelson-Cohen, R., Epsztejn-Litman, S., Eiges, R., Y, Y. L., Kanaan, M., Shaked, H. M., Alahmady, N., Vance, C., Newhouse, S. J., Breen, G., Nishimura, A. L., Shaw, C. E. & Smith, B. N., Oct 2021, In: Neurobiology of Aging. 106, p. 351.e1-351.e6Research output: Contribution to journal › Article › peer-review
5 Citations (Scopus) -
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis
Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N. & Silani, V. & 277 others, , Oct 2021, In: JAMA Neurology. 78, 10, p. 1236-1248 13 p.Research output: Contribution to journal › Article › peer-review
Open Access68 Citations (Scopus) -
Identification of a novel interaction of FUS and syntaphilin may explain synaptic and mitochondrial abnormalities caused by ALS mutations
Salam, S., Tacconelli, S., Smith, B., Mitchell, J., Glennon, E., Nikolaou, N., Houart, C. & Vance, C., 30 Jun 2021, In: Scientific Reports.Research output: Contribution to journal › Article › peer-review
Open Access24 Citations (Scopus)
-
Long-read RNA sequencing at the synapse in ALS-FUS
Clayton, E. (Primary Investigator) & Vance, C. (Co-Investigator)
MNDA Motor Neurone Disease Association
1/01/2026 → 31/08/2026
Project: Research
-
Synaptopathy- The patho-physiological role of FUS at the presynaptic terminal in ALS.
Clayton, E. (Primary Investigator) & Vance, C. (Co-Investigator)
MNDA Motor Neurone Disease Association
1/06/2025 → 30/11/2028
Project: Research
-
Nuclear to synaptic signalling dysregulation by Annexin A11 in ALS
Smith, B. (Primary Investigator), Mitchell, J. (Co-Investigator), Mizielinska, S. (Co-Investigator), Ruepp, M.-D. (Co-Investigator), Troakes, C. (Co-Investigator) & Vance, C. (Co-Investigator)
MNDA Motor Neurone Disease Association
1/04/2025 → 31/07/2026
Project: Research
-
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
-
AAV gene therapy for mutant FUS Amyotrophic Lateral Sclerosis
Lee, Y. (Primary Investigator), Ruepp, M.-D. (Co-Investigator), Shaw, C. (Co-Investigator) & Vance, C. (Co-Investigator)
1/10/2022 → 30/09/2024
Project: Research