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
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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, , 17 Feb 2025, (E-pub ahead of print) In: Brain. 16 p.Research output: Contribution to journal › Article › peer-review
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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
1 Citation (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
7 Citations (Scopus)