Research output per year
Research output per year
Project Details
| Status | Finished |
|---|---|
| Effective start/end date | 11/01/21 → 31/12/23 |
Funding
- NHMRC National Health and Medical Research Council : A$1,935,967.00
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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
OPDM study group, Cortese, A., Cabrera-Serrano, M., Folland, C., Monahan, G., Scriba, C. K., Dofash, L., Johari, M., Mastaglia, F., Laing, N. G. & Ravenscroft, G., 27 Jul 2024, In: Nature Communications. 15, 15 p., 6327.Research output: Contribution to journal › Article › peer-review
Open Access -
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
Donkervoort, S., Locht, M. V. D., Ronchi, D., Reunert, J., McLean, C. A., Zaki, M., Orbach, R., de Winter, J. M., Conijn, S., Hoomoedt, D., Neto, O. L. A., Magri, F., Viaene, A. N., Foley, A. R., Gorokhova, S., Bolduc, V., Hu, Y., Acquaye, N., Napoli, L., Park, J. H., & 24 others, 3 Apr 2024, In: Science Translational Medicine. 16, 741, 13 p., eadg2841.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)