Research output per year
Research output per year
Project Details
| Status | Active |
|---|---|
| Effective start/end date | 1/01/22 → 31/12/26 |
Funding
- National Health & Medical Research Council NHMRC: A$214,024.00
- National Health & Medical Research Council NHMRC: A$314,024.00
- National Health & Medical Research Council NHMRC: A$314,024.00
- National Health & Medical Research Council NHMRC: A$314,024.00
- National Health & Medical Research Council NHMRC: A$128,740.00
Research output
- 2 Article
-
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 Access1 Citation (Scopus) -
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy
Folland, C., Johnsen, R., Gomez, A. B., Trajanoski, D., Davis, M. R., Moore, U., Straub, V., Barresi, R., Guglieri, M., Hayhurst, H., Schaefer, A. M., Laing, N. G., Lamont, P. J. & Ravenscroft, G., Dec 2022, In: Neuropathology and Applied Neurobiology. 48, 7, 10 p., e12846.Research output: Contribution to journal › Article › peer-review