Research output per year
Research output per year
Project Details
| Status | Finished |
|---|---|
| Effective start/end date | 1/01/17 → 31/07/22 |
Funding
- NHMRC National Health and Medical Research Council : A$425,048.00
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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) -
A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease
Malfatti, E., Catchpool, T., Nouioua, S., Sihem, H., Fournier, E., Carlier, R. Y., Cardone, N., Davis, M. R., Laing, N. G., Sternberg, D. & Ravenscroft, G., Feb 2022, In: Neuropathology and Applied Neurobiology. 48, 1, e12743.Research output: Contribution to journal › Review article › peer-review
8 Citations (Scopus) -
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 Access8 Citations (Scopus)