Project Details
| Status | Finished |
|---|---|
| Effective start/end date | 1/01/18 → 31/12/21 |
Funding
- NHMRC National Health and Medical Research Council : A$888,035.00
Research output
- 3 Article
-
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
Cabrera-Serrano, M., Caccavelli, L., Savarese, M., Vihola, A., Jokela, M., Johari, M., Capiod, T., Madrange, M., Bugiardini, E., Brady, S., Quinlivan, R., Merve, A., Scalco, R., Hilton-Jones, D., Houlden, H., Aydin, H. I., Ceylaner, S., Drewes, S., Vockley, J. & Taylor, R. L. & 18 others, , 1 Nov 2022, In: Brain : a journal of neurology. 145, 11, p. 3985-3998 14 p.Research output: Contribution to journal › Article › peer-review
Open Access22 Link opens in a new tab Citations (Scopus) -
Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel
Goullée, H., Taylor, R. L., Forrest, A. R. R., Laing, N. G., Ravenscroft, G. & Clayton, J. S., Dec 2021, In: Skeletal Muscle. 11, 1, 23.Research output: Contribution to journal › Article › peer-review
Open Access6 Link opens in a new tab Citations (Scopus) -
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Olivé, M., Engvall, M., Ravenscroft, G., Cabrera-Serrano, M., Jiao, H., Bortolotti, C. A., Pignataro, M., Lambrughi, M., Jiang, H., Forrest, A. R. R., Benseny-Cases, N., Hofbauer, S., Obinger, C., Battistuzzi, G., Bellei, M., Borsari, M., Di Rocco, G., Viola, H. M., Hool, L. C. & Cladera, J. & 24 others, , 1 Dec 2019, In: Nature Communications. 10, 1, 1396.Research output: Contribution to journal › Article › peer-review
Open Access21 Link opens in a new tab Citations (Scopus)