Research output per year
Research output per year
Project Details
| Status | Finished |
|---|---|
| Effective start/end date | 1/01/11 → 31/12/16 |
Funding
- National Health & Medical Research Council NHMRC: A$841,030.00
-
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy
Cabrera-Serrano, M., Coote, D. J., Azmanov, DI., Goullee, H., Andersen, E., McLean, C., Davis, M., Ishimura, R., Stark, Z., Vallat, J. M., Komatsu, M., Kornberg, A., Ryan, M., Laing, N. G. & Ravenscroft, G., 1 Dec 2020, In: Journal of Medical Genetics. 57, 12, p. 835-842 8 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile13 Citations (Scopus)42 Downloads (Pure) -
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 Access12 Citations (Scopus) -
Bi-allelic mutations in MYL1 cause a severe congenital myopathy
Ravenscroft, G., Zaharieva, I. T., Bortolotti, C. A., Lambrughi, M., Pignataro, M., Borsari, M., Sewry, C. A., Phadke, R., Haliloglu, G., Ong, R., Goullée, H., Whyte, T., Consortium, U. K., Manzur, A., Talim, B., Kaya, U., Osborn, D. P. S., Forrest, A. R. R., Laing, N. G. & Muntoni, F., 15 Dec 2018, In: Human Molecular Genetics. 27, 24, p. 4263-4272 10 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile21 Citations (Scopus)189 Downloads (Pure)