Research output per year
Research output per year
Project Details
| Status | Active |
|---|---|
| Effective start/end date | 11/01/21 → 31/12/23 |
Funding
- National Health & Medical Research Council NHMRC: A$1,935,967.00
-
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., 20 Mar 2023, In: Human Molecular Genetics. 32, 7, p. 1127-1136 10 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset
Mansur, A., Joseph, R., Kim, E. S., Jean-Beltran, P. M., Udeshi, N. D., Pearce, C., Jiang, H., Iwase, R., Milev, M. P., Almousa, H. A., McNamara, E., Widrick, J., Perez, C., Ravenscroft, G., Sacher, M., Cole, P. A., Carr, S. A. & Gupta, V. A., 19 Jul 2023, In: eLife. 12, 33 p., e81966.Research output: Contribution to journal › Article › peer-review
Open Access -
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
Weihl, C. C., Topf, A., Bengoechea, R., Duff, J., Charlton, R., Garcia, S. K., Dominguez-Gonzalez, C., Alsaman, A., Hernandez-Lain, A., Franco, L. V., Ponce Sanchez, M. E., Beecroft, S. J., Goullee, H., Daw, J., Bhadra, A., True, H., Inoue, M., Findlay, A. R., Laing, N., Olive, M., & 2 others, Jan 2023, In: Acta Neuropathologica. 145, 1, p. 127-143 17 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Citations (Scopus)