Research output per year
Research output per year
Project Details
| Status | Finished |
|---|---|
| Effective start/end date | 1/01/17 → 31/12/21 |
Funding
- NHMRC National Health and Medical Research Council : A$838,845.00
-
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model
Dofash, L. N. H., Miles, L. B., Saito, Y., Rivas, E., Calcinotto, V., Oveissi, S., Serrano, R. J., Templin, R., Ramm, G., Rodger, A., Haywood, J., Ingley, E., Clayton, J. S., Taylor, R. L., Folland, C. L., Groth, D., Hock, D. H., Stroud, D. A., Gorokhova, S. & Donkervoort, S. & 21 others, , 1 May 2025, In: Brain. 148, 5, p. 1707-1722 16 p.Research output: Contribution to journal › Article › peer-review
3 Link opens in a new tab Citations (Scopus) -
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy
Mavillard, F., Servian-Morilla, E., Dofash, L., Rojas-Marcos, I., Folland, C., Monahan, G., Gutierrez-Gutierrez, G., Rivas, E., Hernández-Lain, A., Valladares, A., Cantero, G., Morales, J. M., Laing, N. G., Paradas, C., Ravenscroft, G. & Cabrera-Serrano, M., 1 Dec 2023, In: Brain. 146, 12, p. 5235-5248 14 p., awad256.Research output: Contribution to journal › Article › peer-review
8 Link opens in a new tab Citations (Scopus) -
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism
Dofash, L. N. H., Monahan, G., Servian-Morilla, E., Rivas, E., Faiz, F., Sullivan, P., Oates, E., Clayton, J., Taylor, R. L., Davis, M. R., Beilharz, T., Laing, N. G., Cabrera-Serrano, M. & Ravenscroft, G., 1 Apr 2023, In: Human Molecular Genetics. 32, 7, p. 1127-1136 10 p.Research output: Contribution to journal › Article › peer-review
15 Link opens in a new tab Citations (Scopus)