Novel genomic approaches to identify the missing genetics underlying skeletal muscle disease

Ravenscroft, Gina (Investigator 01)
Laing, Nigel (Investigator 04)

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

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

A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca²⁺-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy
Llansó, L., Ravenscroft, G., Aceituno, C., Gutiérrez, A., Parmar, J., Gallano, P., Caballero-Ávila, M., Carbayo, Á., Vesperinas, A., Collet, R., Blanco, R., Laing, N., Hove-Madsen, L., Gallardo, E. & Olivé, M., Feb 2025, In: Neuropathology and Applied Neurobiology. 51, 1, 14 p., e70000.
Research output: Contribution to journal › Article › peer-review
3 Link opens in a new tab Citations (Web of Science)
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Titin Research Consortium, Coppens, S., Deconinck, N., Sullivan, P., Smolnikov, A., Clayton, J. S., Griffin, K. R., Jones, K. J., Vilain, C. N., Kadhim, H., Bryen, S. J., Faiz, F., Waddell, L. B., Evesson, F. J., Bakshi, M., Pinner, J. R., Charlton, A., Brammah, S., Graf, N. S. & Krivanek, M. & 52 others, Tay, C. G., Foulds, N. C., Illingworth, M. A., Thomas, N. H., Ellard, S., Mazanti, I., Park, S. M., French, C. E., Brewster, J., Belteki, G., Hoodbhoy, S., Allinson, K., Krishnakumar, D., Baynam, G., Wood, B. M., Ward, M., Vijayakumar, K., Syed, A., Murugan, A., Majumdar, A., Scurr, I. J., Splitt, M. P., Moldovan, C., de Silva, D. C., Senanayake, K., Gardeitchik, T., Arens, Y., Cooper, S. T., Laing, N. G., Raymond, F. L., Jungbluth, H., Kamsteeg, E. J., Manzur, A., Corley, S. M., Ravenscroft, G., Wilkins, M. R., Cowley, M. J., Pinese, M., Ferreiro, A., Richard, I., Bönnemann, C. G., Donkervoort, S., Luk, H. M., Sampaio, H., Farrar, M. A., Mowat, D., Fitzsimons, R. B., Vuillerot, C., Phadke, R., Davis, M. R., Muntoni, F. & Oates, E. C., Apr 2025, In: Annals of Neurology. 97, 4, p. 611-628 18 p.
Research output: Contribution to journal › Article › peer-review

Open Access
4 Link opens in a new tab Citations (Scopus)
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model
Dofash, L. N. H., Miles, L. B., Saito, Y., Rivas, E., Calcinotto, V., Oveissi, S., Serrano, R. J., Templin, R., Ramm, G., Rodger, A., Haywood, J., Ingley, E., Clayton, J. S., Taylor, R. L., Folland, C. L., Groth, D., Hock, D. H., Stroud, D. A., Gorokhova, S. & Donkervoort, S. & 21 others, Bonnemann, C. G., Sud, M., Vannoy, G. E., Mangilog, B. E., Pais, L., O'Donnell-Luria, A., Madruga-Garrido, M., Scala, M., Fiorillo, C., Baratto, S., Traverso, M., Malfatti, E., Bruno, C., Zara, F., Paradas, C., Ogata, K., Nishino, I., Laing, N. G., Bryson-Richardson, R. J., Cabrera-Serrano, M. & Ravenscroft, G., 1 May 2025, In: Brain. 148, 5, p. 1707-1722 16 p.
Research output: Contribution to journal › Article › peer-review
3 Link opens in a new tab Citations (Scopus)

Novel genomic approaches to identify the missing genetics underlying skeletal muscle disease

Project Details

Funding

Research output

A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca2+-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model

A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca²⁺-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy